CleftGeneDB-Search

Gene: ALDH1A2

Basic information

Tag	Content
Uniprot ID	O94788; B3KY52; B4DZR2; F5H2Y9; H0YM00; Q2PJS6; Q8NHQ4; Q9UBR8; Q9UFY0;
Entrez ID	8854
Genbank protein ID	BAA34787.1; BAA34786.1; BAA34785.1; BAG54714.1; ABC40749.1; CAB53740.2; AAH30589.1; BAG64174.1;
Genbank nucleotide ID	NM_003888.3; NM_170696.2; NM_001206897.1; NM_170697.2;
Ensembl protein ID	ENSP00000249750; ENSP00000438296; ENSP00000309623; ENSP00000453408;
Ensembl nucleotide ID	ENSG00000128918
Gene name	Retinal dehydrogenase 2
Gene symbol	ALDH1A2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Converts retinaldehyde to retinoic acid (PubMed:29240402). Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal. Displays complete lack of activity with citral (By similarity).
Sequence	MTSSKIEMPG EVKADPAALM ASLHLLPSPT PNLEIKYTKI FINNEWQNSE SGRVFPVYNP 60 ATGEQVCEVQ EADKADIDKA VQAARLAFSL GSVWRRMDAS ERGRLLDKLA DLVERDRAVL 120 ATMESLNGGK PFLQAFYVDL QGVIKTFRYY AGWADKIHGM TIPVDGDYFT FTRHEPIGVC 180 GQIIPWNFPL LMFAWKIAPA LCCGNTVVIK PAEQTPLSAL YMGALIKEAG FPPGVINILP 240 GYGPTAGAAI ASHIGIDKIA FTGSTEVGKL IQEAAGRSNL KRVTLELGGK SPNIIFADAD 300 LDYAVEQAHQ GVFFNQGQCC TAGSRIFVEE SIYEEFVRRS VERAKRRVVG SPFDPTTEQG 360 PQIDKKQYNK ILELIQSGVA EGAKLECGGK GLGRKGFFIE PTVFSNVTDD MRIAKEEIFG 420 PVQEILRFKT MDEVIERANN SDFGLVAAVF TNDINKALTV SSAMQAGTVW INCYNALNAQ 480 SPFGGFKMSG NGREMGEFGL REYSEVKTVT VKIPQKNS 518

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
4X2Q
6ALJ
6B5G
6B5H
6B5I
4X2Q
6ALJ
6B5G
6B5H

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ALDH1A2	478319	F1PGT3		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ALDH1A2	102181689	A0A452G5H4		Capra hircus	Prediction	More>>
1:1 ortholog	ALDH1A2	100054550	F7CVL4		Equus caballus	Prediction	More>>
1:1 ortholog	ALDH1A2	8854	O94788		Homo sapiens	Prediction	More>>
1:1 ortholog	Aldh1a2	19378	Q62148	CPO,CLO	Mus musculus	Publication	More>>
1:1 ortholog	ALDH1A2		A0A2I3SDX9		Pan troglodytes	Prediction	More>>
1:1 ortholog	ALDH1A2		I3LK62		Sus scrofa	Prediction	More>>
1:1 ortholog	ALDH1A2		G1TCP3		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Aldh1a2	116676	Q63639		Rattus norvegicus	Prediction	More>>
1:1 ortholog	aldh1a2		Q90Y03		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs748211403	p.Thr2Ile	missense variant	-	NC_000015.10:g.58065646G>A	ExAC,TOPMed,gnomAD
rs748211403	p.Thr2Asn	missense variant	-	NC_000015.10:g.58065646G>T	ExAC,TOPMed,gnomAD
rs748211403	p.Thr2Ser	missense variant	-	NC_000015.10:g.58065646G>C	ExAC,TOPMed,gnomAD
rs755121953	p.Lys5Arg	missense variant	-	NC_000015.10:g.58065637T>C	ExAC,gnomAD
rs781296259	p.Lys5Gln	missense variant	-	NC_000015.10:g.58065638T>G	ExAC,gnomAD
rs1249825935	p.Lys5Asn	missense variant	-	NC_000015.10:g.58065636C>G	TOPMed
rs1045263673	p.Ile6Val	missense variant	-	NC_000015.10:g.58065635T>C	TOPMed
rs780158113	p.Ile6Met	missense variant	-	NC_000015.10:g.58065633T>C	ExAC,gnomAD
rs747209920	p.Ile6Thr	missense variant	-	NC_000015.10:g.58065634A>G	ExAC,gnomAD
rs1045263673	p.Ile6Leu	missense variant	-	NC_000015.10:g.58065635T>G	TOPMed
rs757014180	p.Glu7Asp	missense variant	-	NC_000015.10:g.58065630C>G	ExAC,TOPMed,gnomAD
rs1415604433	p.Glu7Gln	missense variant	-	NC_000015.10:g.58065632C>G	gnomAD
rs757014180	p.Glu7Asp	missense variant	-	NC_000015.10:g.58065630C>A	ExAC,TOPMed,gnomAD
rs1166600393	p.Met8Ile	missense variant	-	NC_000015.10:g.58065627C>A	TOPMed,gnomAD
rs1257189989	p.Met8Leu	missense variant	-	NC_000015.10:g.58065629T>G	TOPMed
rs764117031	p.Gly10Ser	missense variant	-	NC_000015.10:g.58065623C>T	ExAC,TOPMed,gnomAD
rs764117031	p.Gly10Cys	missense variant	-	NC_000015.10:g.58065623C>A	ExAC,TOPMed,gnomAD
rs1489047660	p.Glu11Lys	missense variant	-	NC_000015.10:g.58065620C>T	gnomAD
rs1255219992	p.Ala14Thr	missense variant	-	NC_000015.10:g.58065611C>T	TOPMed,gnomAD
rs1442727463	p.Asp15Val	missense variant	-	NC_000015.10:g.58065607T>A	gnomAD
rs1193963238	p.Pro16Thr	missense variant	-	NC_000015.10:g.58065605G>T	gnomAD
rs773998771	p.Pro16Arg	missense variant	-	NC_000015.10:g.58065604G>C	ExAC,gnomAD
rs143084397	p.Ala17Thr	missense variant	-	NC_000015.10:g.58065602C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763303520	p.Ala17Asp	missense variant	-	NC_000015.10:g.58065601G>T	ExAC,gnomAD
rs1283761840	p.Ala18Thr	missense variant	-	NC_000015.10:g.58065599C>T	gnomAD
NCI-TCGA novel	p.Ala18Asp	missense variant	-	NC_000015.10:g.58065598G>T	NCI-TCGA
rs1283761840	p.Ala18Thr	missense variant	-	NC_000015.10:g.58065599C>T	NCI-TCGA Cosmic
rs1203328488	p.Met20Ile	missense variant	-	NC_000015.10:g.58065591C>T	gnomAD
rs770263415	p.Met20Val	missense variant	-	NC_000015.10:g.58065593T>C	ExAC,gnomAD
rs1271855514	p.Met20Thr	missense variant	-	NC_000015.10:g.58065592A>G	TOPMed
rs1361224225	p.Ala21Thr	missense variant	-	NC_000015.10:g.58065590C>T	gnomAD
COSM1373758	p.Ala21Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58065589G>A	NCI-TCGA Cosmic
COSM1301257	p.Ser22Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58065586G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu23Arg	missense variant	-	NC_000015.10:g.58065583A>C	NCI-TCGA
rs1170764419	p.His24Tyr	missense variant	-	NC_000015.10:g.58065581G>A	gnomAD
NCI-TCGA novel	p.His24Arg	missense variant	-	NC_000015.10:g.58065580T>C	NCI-TCGA
rs924003291	p.His24Gln	missense variant	-	NC_000015.10:g.58065579G>T	TOPMed,gnomAD
COSM963326	p.His24Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58065580T>A	NCI-TCGA Cosmic
COSM458993	p.Leu25Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58065578G>C	NCI-TCGA Cosmic
rs758609064	p.Pro27Leu	missense variant	-	NC_000015.10:g.58065571G>A	ExAC,gnomAD
rs780321286	p.Pro27Ser	missense variant	-	NC_000015.10:g.58065572G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser28Pro	missense variant	-	NC_000015.10:g.58065569A>G	NCI-TCGA
rs777754039	p.Ser28Leu	missense variant	-	NC_000015.10:g.58065568G>A	ExAC,TOPMed,gnomAD
rs1457260160	p.Pro29Ser	missense variant	-	NC_000015.10:g.58065566G>A	gnomAD
rs767371211	p.Thr30Met	missense variant	-	NC_000015.10:g.58065562G>A	ExAC,gnomAD
rs767371211	p.Thr30Lys	missense variant	-	NC_000015.10:g.58065562G>T	ExAC,gnomAD
rs754445947	p.Asn32Asp	missense variant	-	NC_000015.10:g.58065557T>C	ExAC,gnomAD
rs1218450951	p.Lys36Thr	missense variant	-	NC_000015.10:g.58065544T>G	TOPMed
NCI-TCGA novel	p.Tyr37Cys	missense variant	-	NC_000015.10:g.58065541T>C	NCI-TCGA
rs1446777333	p.Lys39Arg	missense variant	-	NC_000015.10:g.58065535T>C	TOPMed,gnomAD
rs759685447	p.Ile40Val	missense variant	-	NC_000015.10:g.58014281T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile40Asn	missense variant	-	NC_000015.10:g.58014280A>T	NCI-TCGA
rs145131555	p.Ile40Met	missense variant	-	NC_000015.10:g.58014279G>C	ESP,ExAC,TOPMed,gnomAD
rs763124360	p.Ile42Met	missense variant	-	NC_000015.10:g.58014273T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn44Asp	missense variant	-	NC_000015.10:g.58014269T>C	NCI-TCGA
rs200134664	p.Trp46Ter	stop gained	-	NC_000015.10:g.58014262C>T	1000Genomes
rs200488880	p.Asn48Ser	missense variant	-	NC_000015.10:g.58014256T>C	1000Genomes
rs1312901295	p.Asn48Lys	missense variant	-	NC_000015.10:g.58014255G>C	TOPMed
rs34266719	p.Glu50Gly	missense variant	-	NC_000015.10:g.58014250T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs775336823	p.Ser51Gly	missense variant	-	NC_000015.10:g.58014248T>C	ExAC,gnomAD
rs772060439	p.Gly52Glu	missense variant	-	NC_000015.10:g.58014244C>T	ExAC,TOPMed,gnomAD
rs772060439	p.Gly52Ala	missense variant	-	NC_000015.10:g.58014244C>G	ExAC,TOPMed,gnomAD
rs535828709	p.Arg53Gly	missense variant	-	NC_000015.10:g.58014242T>C	1000Genomes,ExAC,gnomAD
rs756828101	p.Val54Met	missense variant	-	NC_000015.10:g.58014239C>T	ExAC,gnomAD
rs1272947714	p.Val54Glu	missense variant	-	NC_000015.10:g.58014238A>T	TOPMed,gnomAD
rs1232623688	p.Phe55Leu	missense variant	-	NC_000015.10:g.58014234G>C	gnomAD
rs777495771	p.Pro56His	missense variant	-	NC_000015.10:g.58014232G>T	ExAC,gnomAD
rs748847450	p.Pro56Ala	missense variant	-	NC_000015.10:g.58014233G>C	ExAC,gnomAD
rs753181767	p.Tyr58His	missense variant	-	NC_000015.10:g.58014227A>G	ExAC,gnomAD
rs141412807	p.Tyr58Cys	missense variant	-	NC_000015.10:g.58014226T>C	ESP,ExAC,TOPMed,gnomAD
rs755590270	p.Pro60Ala	missense variant	-	NC_000015.10:g.58014221G>C	ExAC,gnomAD
rs751657419	p.Ala61Ser	missense variant	-	NC_000015.10:g.58014218C>A	ExAC,gnomAD
COSM265984	p.Ala61Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58014218C>T	NCI-TCGA Cosmic
rs1477421032	p.Thr62Ser	missense variant	-	NC_000015.10:g.58014215T>A	gnomAD
rs1182096588	p.Glu64Ter	stop gained	-	NC_000015.10:g.58014209C>A	TOPMed
rs1377673621	p.Val66Leu	missense variant	-	NC_000015.10:g.58014203C>A	gnomAD
rs1476631656	p.Glu68Lys	missense variant	-	NC_000015.10:g.58014197C>T	gnomAD
rs566949896	p.Val69Leu	missense variant	-	NC_000015.10:g.58014194C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs763114869	p.Gln70Glu	missense variant	-	NC_000015.10:g.58014191G>C	ExAC,gnomAD
rs1395149803	p.Gln70His	missense variant	-	NC_000015.10:g.58014189T>G	TOPMed
NCI-TCGA novel	p.Gln70Arg	missense variant	-	NC_000015.10:g.58014190T>C	NCI-TCGA
rs1395149803	p.Gln70His	missense variant	-	NC_000015.10:g.58014189T>A	TOPMed
rs1407708924	p.Glu71Asp	missense variant	-	NC_000015.10:g.58014186T>G	TOPMed
rs1448452625	p.Asp73Gly	missense variant	-	NC_000015.10:g.58014181T>C	gnomAD
NCI-TCGA novel	p.Asp73His	missense variant	-	NC_000015.10:g.58014182C>G	NCI-TCGA
rs1385633545	p.Ala75Thr	missense variant	-	NC_000015.10:g.58013998C>T	gnomAD
rs560518650	p.Ala75Val	missense variant	-	NC_000015.10:g.58013997G>A	1000Genomes,ExAC
rs1329820628	p.Ile77Val	missense variant	-	NC_000015.10:g.58013992T>C	gnomAD
rs1303613977	p.Asp78His	missense variant	-	NC_000015.10:g.58013989C>G	TOPMed
NCI-TCGA novel	p.Asp78Ter	frameshift	-	NC_000015.10:g.58013989_58013990insA	NCI-TCGA
rs750580688	p.Lys79Thr	missense variant	-	NC_000015.10:g.58013985T>G	ExAC,TOPMed,gnomAD
rs1345036913	p.Lys79Glu	missense variant	-	NC_000015.10:g.58013986T>C	TOPMed
rs1228433800	p.Val81Ala	missense variant	-	NC_000015.10:g.58013979A>G	gnomAD
rs1170772271	p.Arg85Gly	missense variant	-	NC_000015.10:g.58013968G>C	TOPMed,gnomAD
rs765361183	p.Arg85His	missense variant	-	NC_000015.10:g.58013967C>T	ExAC,TOPMed,gnomAD
rs1170772271	p.Arg85Cys	missense variant	-	NC_000015.10:g.58013968G>A	TOPMed,gnomAD
rs1162421156	p.Leu86Gln	missense variant	-	NC_000015.10:g.58013964A>T	gnomAD
rs1411441697	p.Leu86Val	missense variant	-	NC_000015.10:g.58013965G>C	gnomAD
rs867011265	p.Ala87Pro	missense variant	-	NC_000015.10:g.58013962C>G	TOPMed
rs1244899392	p.Ala87Gly	missense variant	-	NC_000015.10:g.58013961G>C	gnomAD
rs867011265	p.Ala87Thr	missense variant	-	NC_000015.10:g.58013962C>T	TOPMed
NCI-TCGA novel	p.Phe88Ile	missense variant	-	NC_000015.10:g.58013959A>T	NCI-TCGA
COSM278770	p.Phe88Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58013957G>T	NCI-TCGA Cosmic
rs754093862	p.Ser89Cys	missense variant	-	NC_000015.10:g.58013955G>C	ExAC,TOPMed,gnomAD
rs1176649097	p.Ser89Ala	missense variant	-	NC_000015.10:g.58013956A>C	TOPMed,gnomAD
rs1291691344	p.Trp94Gly	missense variant	-	NC_000015.10:g.58013941A>C	TOPMed
rs1490061237	p.Arg96Lys	missense variant	-	NC_000015.10:g.58013934C>T	TOPMed
NCI-TCGA novel	p.Met97Ile	missense variant	-	NC_000015.10:g.58013930C>T	NCI-TCGA
rs1206968500	p.Met97Leu	missense variant	-	NC_000015.10:g.58013932T>A	gnomAD
rs759343623	p.Asp98Gly	missense variant	-	NC_000015.10:g.58013928T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser100Ter	stop gained	-	NC_000015.10:g.58013922G>C	NCI-TCGA
rs1336810140	p.Glu101Gly	missense variant	-	NC_000015.10:g.58013919T>C	gnomAD
rs1196624385	p.Arg102Gly	missense variant	-	NC_000015.10:g.58013917T>C	TOPMed
rs769522277	p.Arg104His	missense variant	-	NC_000015.10:g.58013910C>T	gnomAD
rs1289349342	p.Arg104Cys	missense variant	-	NC_000015.10:g.58013911G>A	TOPMed,gnomAD
rs1459242358	p.Asp107Gly	missense variant	-	NC_000015.10:g.58013901T>C	TOPMed
rs770969577	p.Asp107Glu	missense variant	-	NC_000015.10:g.58013900A>C	ExAC,gnomAD
rs867232102	p.Asp107Asn	missense variant	-	NC_000015.10:g.58013902C>T	TOPMed,gnomAD
rs894115038	p.Leu109Phe	missense variant	-	NC_000015.10:g.58013896G>A	gnomAD
rs894115038	p.Leu109Ile	missense variant	-	NC_000015.10:g.58013896G>T	gnomAD
rs35365164	p.Ala110Val	missense variant	-	NC_000015.10:g.58013892G>A	1000Genomes,ExAC,gnomAD
rs1386834641	p.Asp111Glu	missense variant	-	NC_000015.10:g.58013888G>T	gnomAD
rs564494455	p.Asp111Ala	missense variant	-	NC_000015.10:g.58013889T>G	1000Genomes,ExAC,gnomAD
rs938424939	p.Asp111His	missense variant	-	NC_000015.10:g.58013890C>G	TOPMed,gnomAD
rs140453054	p.Leu112Phe	missense variant	-	NC_000015.10:g.58013885C>G	ESP,ExAC,TOPMed,gnomAD
rs747378369	p.Val113Leu	missense variant	-	NC_000015.10:g.58013884C>G	ExAC,TOPMed,gnomAD
rs780416747	p.Arg115Gln	missense variant	-	NC_000015.10:g.58013877C>T	ExAC,gnomAD
rs1179037754	p.Arg115Trp	missense variant	-	NC_000015.10:g.58013878G>A	gnomAD
rs369825779	p.Arg117Ser	missense variant	-	NC_000015.10:g.58013870C>A	ESP,ExAC,TOPMed,gnomAD
rs755530487	p.Ala118Glu	missense variant	-	NC_000015.10:g.58013868G>T	ExAC,gnomAD
rs757354436	p.Val119Phe	missense variant	-	NC_000015.10:g.58013866C>A	ExAC,gnomAD
rs1216607378	p.Leu120Val	missense variant	-	NC_000015.10:g.58013863G>C	gnomAD
COSM3502743	p.Leu120Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58013863G>A	NCI-TCGA Cosmic
rs924333526	p.Ala121Gly	missense variant	-	NC_000015.10:g.58013859G>C	gnomAD
rs754006072	p.Ala121Thr	missense variant	-	NC_000015.10:g.58013860C>T	ExAC,gnomAD
rs1193166675	p.Gly128Ser	missense variant	-	NC_000015.10:g.58010760C>T	gnomAD
rs1429505348	p.Lys130Asn	missense variant	-	NC_000015.10:g.58010752T>G	gnomAD
NCI-TCGA novel	p.Lys130Arg	missense variant	-	NC_000015.10:g.58010753T>C	NCI-TCGA
NCI-TCGA novel	p.Pro131Ser	missense variant	-	NC_000015.10:g.58010751G>A	NCI-TCGA
rs1180694453	p.Leu133Arg	missense variant	-	NC_000015.10:g.58010744A>C	gnomAD
rs1331946971	p.Leu133Met	missense variant	-	NC_000015.10:g.58010745G>T	TOPMed
rs368738169	p.Gln134Glu	missense variant	-	NC_000015.10:g.58010742G>C	ESP,ExAC,TOPMed,gnomAD
rs771486034	p.Ala135Val	missense variant	-	NC_000015.10:g.58010738G>A	ExAC,gnomAD
rs116319331	p.Tyr137Cys	missense variant	-	NC_000015.10:g.58010732T>C	1000Genomes,ExAC
rs1440144834	p.Tyr137His	missense variant	-	NC_000015.10:g.58010733A>G	TOPMed
NCI-TCGA novel	p.Tyr137MetPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.58010733A>-	NCI-TCGA
NCI-TCGA novel	p.Asp139Asn	missense variant	-	NC_000015.10:g.58010727C>T	NCI-TCGA
rs956393824	p.Gly142Ala	missense variant	-	NC_000015.10:g.58010717C>G	gnomAD
NCI-TCGA novel	p.Gly142Ser	missense variant	-	NC_000015.10:g.58010718C>T	NCI-TCGA
NCI-TCGA novel	p.Gly142Asp	missense variant	-	NC_000015.10:g.58010717C>T	NCI-TCGA
rs572439325	p.Val143Ile	missense variant	-	NC_000015.10:g.58010715C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1297458757	p.Ile144Val	missense variant	-	NC_000015.10:g.58010712T>C	gnomAD
rs1391591390	p.Ile144Met	missense variant	-	NC_000015.10:g.58010710G>C	gnomAD
COSM3502742	p.Lys145Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58010708T>A	NCI-TCGA Cosmic
rs1369606280	p.Thr146Ile	missense variant	-	NC_000015.10:g.58010705G>A	gnomAD
rs1394279385	p.Phe147Leu	missense variant	-	NC_000015.10:g.58010701A>C	gnomAD
rs201593015	p.Arg148Gln	missense variant	-	NC_000015.10:g.58010699C>T	ESP,ExAC,gnomAD
COSM963321	p.Arg148Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.58010700G>A	NCI-TCGA Cosmic
rs367782487	p.Tyr149Cys	missense variant	-	NC_000015.10:g.58010696T>C	ESP,ExAC
rs115875978	p.Ala151Thr	missense variant	-	NC_000015.10:g.58010691C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115875978	p.Ala151Ser	missense variant	-	NC_000015.10:g.58010691C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly152Cys	missense variant	-	NC_000015.10:g.58010688C>A	NCI-TCGA
NCI-TCGA novel	p.Gly152Ser	missense variant	-	NC_000015.10:g.58010688C>T	NCI-TCGA
NCI-TCGA novel	p.Trp153Leu	missense variant	-	NC_000015.10:g.58010684C>A	NCI-TCGA
rs78858944	p.Ala154Ser	missense variant	-	NC_000015.10:g.58010682C>A	ExAC,gnomAD
rs78858944	p.Ala154Thr	missense variant	-	NC_000015.10:g.58010682C>T	ExAC,gnomAD
COSM3887259	p.Asp155Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58010679C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly159Arg	missense variant	-	NC_000015.10:g.58010667C>G	NCI-TCGA
rs902141007	p.Thr161Ser	missense variant	-	NC_000015.10:g.58010660G>C	TOPMed,gnomAD
rs1186763851	p.Val164Ile	missense variant	-	NC_000015.10:g.58010652C>T	TOPMed
rs1205096946	p.Gly166Arg	missense variant	-	NC_000015.10:g.57995137C>T	TOPMed
rs761939819	p.Asp167Ala	missense variant	-	NC_000015.10:g.57995133T>G	ExAC,gnomAD
rs575040621	p.Asp167Asn	missense variant	-	NC_000015.10:g.57995134C>T	1000Genomes,ExAC,gnomAD
COSM3420477	p.Asp167Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995134C>A	NCI-TCGA Cosmic
rs1323369120	p.Thr170Ala	missense variant	-	NC_000015.10:g.57995125T>C	TOPMed,gnomAD
rs768890166	p.Phe171Leu	missense variant	-	NC_000015.10:g.57995122A>G	ExAC,TOPMed
rs1159614146	p.Thr172Arg	missense variant	-	NC_000015.10:g.57995118G>C	gnomAD
COSM3420476	p.Arg173Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995115C>A	NCI-TCGA Cosmic
COSM963318	p.Arg173Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995115C>T	NCI-TCGA Cosmic
rs1181706288	p.His174Arg	missense variant	-	NC_000015.10:g.57995112T>C	TOPMed
NCI-TCGA novel	p.Glu175Ter	stop gained	-	NC_000015.10:g.57995110C>A	NCI-TCGA
COSM3502741	p.Glu175Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995110C>T	NCI-TCGA Cosmic
rs780438722	p.Pro176Leu	missense variant	-	NC_000015.10:g.57995106G>A	ExAC,gnomAD
rs1243742183	p.Ile177Phe	missense variant	-	NC_000015.10:g.57995104T>A	TOPMed
rs148475880	p.Gly178Arg	missense variant	-	NC_000015.10:g.57995101C>T	ESP,TOPMed
NCI-TCGA novel	p.Gln182Arg	missense variant	-	NC_000015.10:g.57995088T>C	NCI-TCGA
rs777839828	p.Ile183Val	missense variant	-	NC_000015.10:g.57995086T>C	ExAC,gnomAD
COSM4055885	p.Ile183Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995086T>A	NCI-TCGA Cosmic
COSM3502740	p.Trp186Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.57993071C>T	NCI-TCGA Cosmic
rs1339185268	p.Phe188Cys	missense variant	-	NC_000015.10:g.57993066A>C	gnomAD
rs1271135399	p.Phe188Leu	missense variant	-	NC_000015.10:g.57993065G>T	gnomAD
rs1473481583	p.Met192Val	missense variant	-	NC_000015.10:g.57993055T>C	TOPMed
rs1163376031	p.Met192Ile	missense variant	-	NC_000015.10:g.57993053C>T	TOPMed
rs1389877799	p.Ile197Thr	missense variant	-	NC_000015.10:g.57993039A>G	TOPMed
rs754414994	p.Ala198Val	missense variant	-	NC_000015.10:g.57993036G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro199Leu	missense variant	-	NC_000015.10:g.57993033G>A	NCI-TCGA
rs746584588	p.Leu201Met	missense variant	-	NC_000015.10:g.57993028A>T	ExAC,gnomAD
rs779663083	p.Cys203Phe	missense variant	-	NC_000015.10:g.57993021C>A	ExAC,gnomAD
rs779663083	p.Cys203Tyr	missense variant	-	NC_000015.10:g.57993021C>T	ExAC,gnomAD
rs758095172	p.Gly204Asp	missense variant	-	NC_000015.10:g.57993018C>T	ExAC,gnomAD
COSM4055883	p.Gly204Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57993019C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn205Tyr	missense variant	-	NC_000015.10:g.57993016T>A	NCI-TCGA
rs750755375	p.Thr206Ala	missense variant	-	NC_000015.10:g.57993013T>C	ExAC,gnomAD
rs765478305	p.Val207Glu	missense variant	-	NC_000015.10:g.57993009A>T	ExAC,gnomAD
rs375479963	p.Glu213Gly	missense variant	-	NC_000015.10:g.57992991T>C	ESP,ExAC,TOPMed,gnomAD
rs757661279	p.Glu213Lys	missense variant	-	NC_000015.10:g.57992992C>T	ExAC,gnomAD
COSM700864	p.Glu213Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992992C>G	NCI-TCGA Cosmic
rs764730133	p.Ser218Thr	missense variant	-	NC_000015.10:g.57992976C>G	ExAC,gnomAD
rs764730133	p.Ser218Ile	missense variant	-	NC_000015.10:g.57992976C>A	ExAC,gnomAD
COSM1373754	p.Ser218Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992976C>T	NCI-TCGA Cosmic
rs760824618	p.Ala219Val	missense variant	-	NC_000015.10:g.57992973G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala219Glu	missense variant	-	NC_000015.10:g.57992973G>T	NCI-TCGA
rs1333049209	p.Leu220Phe	missense variant	-	NC_000015.10:g.57992971G>A	TOPMed
rs775761595	p.Met222Val	missense variant	-	NC_000015.10:g.57992965T>C	ExAC,TOPMed,gnomAD
COSM3502738	p.Gly223Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992962C>T	NCI-TCGA Cosmic
rs759794887	p.Ala224Asp	missense variant	-	NC_000015.10:g.57992958G>T	ExAC,gnomAD
rs767821847	p.Ala224Thr	missense variant	-	NC_000015.10:g.57992959C>T	ExAC,gnomAD
rs769420073	p.Leu225Val	missense variant	-	NC_000015.10:g.57992956G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu225Arg	missense variant	-	NC_000015.10:g.57992955A>C	NCI-TCGA
NCI-TCGA novel	p.Ile226Thr	missense variant	-	NC_000015.10:g.57992952A>G	NCI-TCGA
NCI-TCGA novel	p.Lys227Ter	stop gained	-	NC_000015.10:g.57992950T>A	NCI-TCGA
rs1342535906	p.Lys227Glu	missense variant	-	NC_000015.10:g.57992950T>C	TOPMed
rs747977737	p.Glu228Lys	missense variant	-	NC_000015.10:g.57992947C>T	ExAC,gnomAD
rs1200681437	p.Phe231Cys	missense variant	-	NC_000015.10:g.57992811A>C	TOPMed
rs1179237166	p.Gly234Arg	missense variant	-	NC_000015.10:g.57992803C>T	gnomAD
COSM3502737	p.Gly234Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992802C>T	NCI-TCGA Cosmic
rs971514250	p.Val235Ile	missense variant	-	NC_000015.10:g.57992800C>T	TOPMed,gnomAD
rs971514250	p.Val235Phe	missense variant	-	NC_000015.10:g.57992800C>A	TOPMed,gnomAD
rs1268373613	p.Ile236Val	missense variant	-	NC_000015.10:g.57992797T>C	gnomAD
rs778247392	p.Asn237Ser	missense variant	-	NC_000015.10:g.57992793T>C	ExAC,TOPMed,gnomAD
rs756573344	p.Ile238Val	missense variant	-	NC_000015.10:g.57992791T>C	ExAC,TOPMed,gnomAD
rs1284537476	p.Leu239Phe	missense variant	-	NC_000015.10:g.57992786C>A	gnomAD
rs753200418	p.Tyr242His	missense variant	-	NC_000015.10:g.57992779A>G	ExAC,gnomAD
rs781766424	p.Thr245Met	missense variant	-	NC_000015.10:g.57992769G>A	ExAC,gnomAD
rs751715832	p.Ala249Gly	missense variant	-	NC_000015.10:g.57992757G>C	ExAC,gnomAD
rs766485133	p.Ile250Val	missense variant	-	NC_000015.10:g.57992755T>C	ExAC,gnomAD
COSM4819059	p.Ser252Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992748G>C	NCI-TCGA Cosmic
rs763272464	p.His253Asp	missense variant	-	NC_000015.10:g.57992746G>C	ExAC,gnomAD
rs149655951	p.Ile254Thr	missense variant	-	NC_000015.10:g.57992742A>G	ESP,ExAC,gnomAD
rs750642260	p.Ile254Val	missense variant	-	NC_000015.10:g.57992743T>C	ExAC,TOPMed,gnomAD
rs114474932	p.Gly255Asp	missense variant	-	NC_000015.10:g.57992739C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775338573	p.Asp257Asn	missense variant	-	NC_000015.10:g.57992734C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys258Gln	missense variant	-	NC_000015.10:g.57992731T>G	NCI-TCGA
COSM5369016	p.Lys258Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992729C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile259Leu	missense variant	-	NC_000015.10:g.57992728T>G	NCI-TCGA
rs772058025	p.Ile259Val	missense variant	-	NC_000015.10:g.57992728T>C	ExAC,TOPMed,gnomAD
rs1373928763	p.Ala260Thr	missense variant	-	NC_000015.10:g.57992725C>T	TOPMed
rs1177361175	p.Ser264Pro	missense variant	-	NC_000015.10:g.57992713A>G	gnomAD
rs537469985	p.Thr265Pro	missense variant	-	NC_000015.10:g.57992710T>G	gnomAD
NCI-TCGA novel	p.Glu266Lys	missense variant	-	NC_000015.10:g.57992707C>T	NCI-TCGA
rs747499781	p.Val267Ile	missense variant	-	NC_000015.10:g.57965827C>T	ExAC,gnomAD
rs780438953	p.Lys269Glu	missense variant	-	NC_000015.10:g.57965821T>C	ExAC,TOPMed,gnomAD
rs1297784721	p.Gln272Ter	stop gained	-	NC_000015.10:g.57965812G>A	gnomAD
rs746013472	p.Glu273Ala	missense variant	-	NC_000015.10:g.57965808T>G	ExAC,TOPMed,gnomAD
rs1277402514	p.Ala275Ser	missense variant	-	NC_000015.10:g.57965803C>A	gnomAD
rs754090135	p.Arg277Lys	missense variant	-	NC_000015.10:g.57965796C>T	ExAC,gnomAD
rs201056912	p.Ser278Thr	missense variant	-	NC_000015.10:g.57965793C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1183671646	p.Asn279Tyr	missense variant	-	NC_000015.10:g.57965791T>A	gnomAD
NCI-TCGA novel	p.Lys281Arg	missense variant	-	NC_000015.10:g.57965784T>C	NCI-TCGA
COSM470873	p.Arg282Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57965780T>A	NCI-TCGA Cosmic
rs754746840	p.Leu285Pro	missense variant	-	NC_000015.10:g.57965772A>G	ExAC
rs1410576445	p.Gly288Arg	missense variant	-	NC_000015.10:g.57965764C>T	TOPMed
NCI-TCGA novel	p.Pro292Leu	missense variant	-	NC_000015.10:g.57965751G>A	NCI-TCGA
rs766296622	p.Asn293Ile	missense variant	-	NC_000015.10:g.57965748T>A	ExAC,gnomAD
rs766296622	p.Asn293Thr	missense variant	-	NC_000015.10:g.57965748T>G	ExAC,gnomAD
rs1420006463	p.Ile294Val	missense variant	-	NC_000015.10:g.57965746T>C	TOPMed
COSM3502735	p.Asp298Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57965734C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala299Ser	missense variant	-	NC_000015.10:g.57965731C>A	NCI-TCGA
rs1276511608	p.Ala299Gly	missense variant	-	NC_000015.10:g.57965730G>C	gnomAD
rs1220240609	p.Asp300Glu	missense variant	-	NC_000015.10:g.57965726G>C	gnomAD
rs1382221127	p.Leu301Phe	missense variant	-	NC_000015.10:g.57964068C>G	gnomAD
rs1157497589	p.Tyr303His	missense variant	-	NC_000015.10:g.57964064A>G	gnomAD
rs139464985	p.Tyr303Ser	missense variant	-	NC_000015.10:g.57964063T>G	ESP,ExAC,TOPMed,gnomAD
rs139464985	p.Tyr303Cys	missense variant	-	NC_000015.10:g.57964063T>C	ESP,ExAC,TOPMed,gnomAD
rs1388306393	p.Gln307Lys	missense variant	-	NC_000015.10:g.57964052G>T	gnomAD
NCI-TCGA novel	p.Ala308Val	missense variant	-	NC_000015.10:g.57964048G>A	NCI-TCGA
rs761420400	p.Ala308Thr	missense variant	-	NC_000015.10:g.57964049C>T	ExAC,gnomAD
rs1480009589	p.Gln310His	missense variant	-	NC_000015.10:g.57964041C>G	gnomAD
rs1417206498	p.Gly311Ala	missense variant	-	NC_000015.10:g.57964039C>G	TOPMed
rs1269326102	p.Gly311Cys	missense variant	-	NC_000015.10:g.57964040C>A	gnomAD
rs1200984879	p.Val312Met	missense variant	-	NC_000015.10:g.57964037C>T	gnomAD
rs1166767785	p.Val312Gly	missense variant	-	NC_000015.10:g.57964036A>C	TOPMed
NCI-TCGA novel	p.Phe313Leu	missense variant	-	NC_000015.10:g.57964032G>C	NCI-TCGA
rs753463120	p.Asn315Ser	missense variant	-	NC_000015.10:g.57964027T>C	ExAC,TOPMed,gnomAD
rs1260869155	p.Gln316Lys	missense variant	-	NC_000015.10:g.57964025G>T	gnomAD
rs1205822473	p.Gln318His	missense variant	-	NC_000015.10:g.57964017C>A	gnomAD
rs1323724555	p.Cys319Trp	missense variant	-	NC_000015.10:g.57964014G>C	TOPMed
rs761085706	p.Thr321Ala	missense variant	-	NC_000015.10:g.57964010T>C	ExAC,gnomAD
rs772458487	p.Gly323Asp	missense variant	-	NC_000015.10:g.57964003C>T	ExAC
rs963837318	p.Arg325Gly	missense variant	-	NC_000015.10:g.57963998G>C	TOPMed,gnomAD
rs963837318	p.Arg325Cys	missense variant	-	NC_000015.10:g.57963998G>A	TOPMed,gnomAD
rs1236415698	p.Arg325Leu	missense variant	-	NC_000015.10:g.57963997C>A	gnomAD
rs1230124736	p.Val328Met	missense variant	-	NC_000015.10:g.57963989C>T	TOPMed
NCI-TCGA novel	p.Glu330Gln	missense variant	-	NC_000015.10:g.57963983C>G	NCI-TCGA
NCI-TCGA novel	p.Ser331Ter	frameshift	-	NC_000015.10:g.57963972_57963979ATAGATGG>-	NCI-TCGA
NCI-TCGA novel	p.Ile332SerPheSerTerUnk	frameshift	-	NC_000015.10:g.57963978G>-	NCI-TCGA
NCI-TCGA novel	p.Tyr333Cys	missense variant	-	NC_000015.10:g.57963973T>C	NCI-TCGA
rs1326368724	p.Glu334Lys	missense variant	-	NC_000015.10:g.57963971C>T	gnomAD
NCI-TCGA novel	p.Glu334Val	missense variant	-	NC_000015.10:g.57963970T>A	NCI-TCGA
rs770934217	p.Phe336Leu	missense variant	-	NC_000015.10:g.57963963A>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe336Cys	missense variant	-	NC_000015.10:g.57963964A>C	NCI-TCGA
NCI-TCGA novel	p.Arg338Thr	missense variant	-	NC_000015.10:g.57963958C>G	NCI-TCGA
rs1321653431	p.Arg339Ser	missense variant	-	NC_000015.10:g.57963954T>G	TOPMed
rs769962890	p.Val341Met	missense variant	-	NC_000015.10:g.57963950C>T	ExAC,TOPMed,gnomAD
rs137957671	p.Arg343Trp	missense variant	-	NC_000015.10:g.57963944G>A	ESP,ExAC,TOPMed,gnomAD
rs779670359	p.Arg343Gln	missense variant	-	NC_000015.10:g.57963943C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys345Asn	missense variant	-	NC_000015.10:g.57963936C>G	NCI-TCGA
rs1466342911	p.Lys345Arg	missense variant	-	NC_000015.10:g.57963937T>C	gnomAD
rs750327790	p.Arg346Trp	missense variant	-	NC_000015.10:g.57963935T>A	ExAC,TOPMed,gnomAD
rs778997757	p.Arg347Ser	missense variant	-	NC_000015.10:g.57963932G>T	ExAC,TOPMed,gnomAD
rs141245344	p.Arg347His	missense variant	-	NC_000015.10:g.57963931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778997757	p.Arg347Cys	missense variant	-	NC_000015.10:g.57963932G>A	ExAC,TOPMed,gnomAD
rs4646626	p.Val348Ile	missense variant	-	NC_000015.10:g.57963929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs4646626	p.Val348Ile	missense variant	-	NC_000015.10:g.57963929C>T	UniProt,dbSNP
VAR_025441	p.Val348Ile	missense variant	-	NC_000015.10:g.57963929C>T	UniProt
rs1231247954	p.Ser351Gly	missense variant	-	NC_000015.10:g.57963920T>C	gnomAD
NCI-TCGA novel	p.Pro352Ala	missense variant	-	NC_000015.10:g.57963917G>C	NCI-TCGA
rs1366807212	p.Pro352Ser	missense variant	-	NC_000015.10:g.57963917G>A	gnomAD
rs752416528	p.Asp354Glu	missense variant	-	NC_000015.10:g.57963909G>C	ExAC,gnomAD
rs767813198	p.Pro355Ser	missense variant	-	NC_000015.10:g.57963908G>A	ExAC,gnomAD
COSM700865	p.Pro355Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57963908G>T	NCI-TCGA Cosmic
rs763149416	p.Thr356Ser	missense variant	-	NC_000015.10:g.57963904G>C	TOPMed,gnomAD
rs775570769	p.Gly360Arg	missense variant	-	NC_000015.10:g.57963893C>G	ExAC,gnomAD
rs775570769	p.Gly360Cys	missense variant	-	NC_000015.10:g.57963893C>A	ExAC,gnomAD
rs1383241795	p.Pro361Arg	missense variant	-	NC_000015.10:g.57963889G>C	gnomAD
rs773201837	p.Pro361Ser	missense variant	-	NC_000015.10:g.57963890G>A	ExAC,TOPMed,gnomAD
rs1349510264	p.Asp364Gly	missense variant	-	NC_000015.10:g.57962172T>C	gnomAD
rs1411458398	p.Asn369Lys	missense variant	-	NC_000015.10:g.57962156G>C	gnomAD
COSM1373751	p.Asn369Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57962158T>C	NCI-TCGA Cosmic
COSM963317	p.Lys370Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57962153C>A	NCI-TCGA Cosmic
rs1302519557	p.Glu373Ala	missense variant	-	NC_000015.10:g.57962145T>G	gnomAD
rs1442466728	p.Gln376Arg	missense variant	-	NC_000015.10:g.57962136T>C	TOPMed
rs1344293487	p.Ala380Gly	missense variant	-	NC_000015.10:g.57962124G>C	TOPMed
rs749124508	p.Ala383Thr	missense variant	-	NC_000015.10:g.57962116C>T	ExAC,TOPMed,gnomAD
rs777771866	p.Glu386Lys	missense variant	-	NC_000015.10:g.57962107C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu386Ala	missense variant	-	NC_000015.10:g.57962106T>G	NCI-TCGA
NCI-TCGA novel	p.Glu386Asp	missense variant	-	NC_000015.10:g.57962105T>G	NCI-TCGA
rs148157033	p.Gly388Arg	missense variant	-	NC_000015.10:g.57962101C>T	ESP
NCI-TCGA novel	p.Gly389Asp	missense variant	-	NC_000015.10:g.57962097C>T	NCI-TCGA
rs1161618391	p.Gly391Arg	missense variant	-	NC_000015.10:g.57962092C>T	gnomAD
rs747754555	p.Arg394Ter	stop gained	-	NC_000015.10:g.57962083G>A	ExAC,gnomAD
rs376965202	p.Arg394Gln	missense variant	-	NC_000015.10:g.57962082C>T	ESP,ExAC,TOPMed,gnomAD
rs751240468	p.Lys395Met	missense variant	-	NC_000015.10:g.57962079T>A	ExAC,gnomAD
rs200868240	p.Pro401Ser	missense variant	-	NC_000015.10:g.57962062G>A	1000Genomes,ESP,ExAC,gnomAD
COSM4929159	p.Val403Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57962056C>A	NCI-TCGA Cosmic
rs776899385	p.Ser405Ala	missense variant	-	NC_000015.10:g.57962050A>C	ExAC,gnomAD
rs1166777399	p.Ser405Phe	missense variant	-	NC_000015.10:g.57962049G>A	gnomAD
rs143821863	p.Asn406Ser	missense variant	-	NC_000015.10:g.57962046T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775867880	p.Val407Ile	missense variant	-	NC_000015.10:g.57962044C>T	ExAC,gnomAD
rs749175907	p.Thr408Ser	missense variant	-	NC_000015.10:g.57962040G>C	ExAC,gnomAD
rs1322881604	p.Asp410Tyr	missense variant	-	NC_000015.10:g.57962035C>A	gnomAD
rs773013581	p.Asp410Gly	missense variant	-	NC_000015.10:g.57962034T>C	ExAC,gnomAD
rs1177253189	p.Met411Lys	missense variant	-	NC_000015.10:g.57962031A>T	gnomAD
rs200804968	p.Arg412Gln	missense variant	-	NC_000015.10:g.57962028C>T	ESP,ExAC,TOPMed,gnomAD
rs563668428	p.Arg412Trp	missense variant	-	NC_000015.10:g.57962029G>A	1000Genomes,TOPMed
COSM3690648	p.Lys415Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57962018C>A	NCI-TCGA Cosmic
rs780644525	p.Glu417Ter	stop gained	-	NC_000015.10:g.57962014C>A	ExAC,TOPMed,gnomAD
rs1408262278	p.Ile418Val	missense variant	-	NC_000015.10:g.57961294T>C	TOPMed,gnomAD
rs1408262278	p.Ile418Leu	missense variant	-	NC_000015.10:g.57961294T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gln423Arg	missense variant	-	NC_000015.10:g.57961278T>C	NCI-TCGA
NCI-TCGA novel	p.Glu424Lys	missense variant	-	NC_000015.10:g.57961276C>T	NCI-TCGA
rs1483077688	p.Glu424Ala	missense variant	-	NC_000015.10:g.57961275T>G	TOPMed
rs1276642732	p.Leu426Phe	missense variant	-	NC_000015.10:g.57961268C>G	gnomAD
rs1243899765	p.Arg427Thr	missense variant	-	NC_000015.10:g.57961266C>G	gnomAD
rs374758581	p.Thr430Arg	missense variant	-	NC_000015.10:g.57961257G>C	ExAC,TOPMed,gnomAD
rs374758581	p.Thr430Met	missense variant	-	NC_000015.10:g.57961257G>A	ExAC,TOPMed,gnomAD
rs778492756	p.Met431Val	missense variant	-	NC_000015.10:g.57961255T>C	ExAC,gnomAD
COSM6077620	p.Met431Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57961253C>A	NCI-TCGA Cosmic
rs756250570	p.Asp432Gly	missense variant	-	NC_000015.10:g.57961251T>C	ExAC,gnomAD
rs1297982467	p.Glu433Asp	missense variant	-	NC_000015.10:g.57961247T>G	TOPMed,gnomAD
rs1410776108	p.Ile435Val	missense variant	-	NC_000015.10:g.57961243T>C	gnomAD
rs34744827	p.Glu436Lys	missense variant	-	NC_000015.10:g.57961240C>T	UniProt,dbSNP
VAR_025442	p.Glu436Lys	missense variant	-	NC_000015.10:g.57961240C>T	UniProt
rs34744827	p.Glu436Lys	missense variant	-	NC_000015.10:g.57961240C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs34744827	p.Glu436Gln	missense variant	-	NC_000015.10:g.57961240C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn439LysPheSerTerUnk	frameshift	-	NC_000015.10:g.57961229A>-	NCI-TCGA
rs1349298337	p.Asn440Lys	missense variant	-	NC_000015.10:g.57961226G>C	gnomAD
rs761596202	p.Asp442Val	missense variant	-	NC_000015.10:g.57961221T>A	ExAC,gnomAD
rs760154736	p.Val446Ile	missense variant	-	NC_000015.10:g.57961210C>T	ExAC,gnomAD
rs775105714	p.Thr451Ser	missense variant	-	NC_000015.10:g.57961194G>C	ExAC,gnomAD
rs1024580947	p.Ile454Val	missense variant	-	NC_000015.10:g.57961186T>C	gnomAD
rs375988934	p.Asn455Asp	missense variant	-	NC_000015.10:g.57961183T>C	ESP,ExAC,TOPMed,gnomAD
rs771419880	p.Lys456Gln	missense variant	-	NC_000015.10:g.57961180T>G	ExAC,gnomAD
rs373880063	p.Ala457Thr	missense variant	-	NC_000015.10:g.57961177C>T	ESP,ExAC,gnomAD
rs778404979	p.Ala457Val	missense variant	-	NC_000015.10:g.57961176G>A	ExAC,TOPMed,gnomAD
rs1296781010	p.Leu458Phe	missense variant	-	NC_000015.10:g.57961174G>A	TOPMed
rs145205757	p.Thr459Ala	missense variant	-	NC_000015.10:g.57961171T>C	ESP,ExAC,TOPMed,gnomAD
COSM963316	p.Val460Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57961168C>A	NCI-TCGA Cosmic
rs1236197030	p.Met464Leu	missense variant	-	NC_000015.10:g.57961156T>A	TOPMed
rs781287721	p.Gln465Lys	missense variant	-	NC_000015.10:g.57961153G>T	ExAC,gnomAD
rs376959094	p.Val469Ile	missense variant	-	NC_000015.10:g.57961141C>T	ESP,gnomAD
rs1000157438	p.Trp470Leu	missense variant	-	NC_000015.10:g.57961137C>A	gnomAD
rs1000157438	p.Trp470Ter	stop gained	-	NC_000015.10:g.57961137C>T	gnomAD
rs752676181	p.Asn472Ser	missense variant	-	NC_000015.10:g.57960839T>C	ExAC,TOPMed,gnomAD
rs1435112972	p.Tyr474Phe	missense variant	-	NC_000015.10:g.57960833T>A	gnomAD
COSM963314	p.Ala476Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57960827G>A	NCI-TCGA Cosmic
COSM3401846	p.Ala479Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57960819C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln480Lys	missense variant	-	NC_000015.10:g.57960816G>T	NCI-TCGA
NCI-TCGA novel	p.Ser481Asn	missense variant	-	NC_000015.10:g.57960812C>T	NCI-TCGA
COSM4903118	p.Pro482Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57960809G>A	NCI-TCGA Cosmic
rs868060815	p.Gly492Arg	missense variant	-	NC_000015.10:g.57960780C>T	-
COSM700868	p.Met495Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57955269C>A	NCI-TCGA Cosmic
rs775989050	p.Phe498Ser	missense variant	-	NC_000015.10:g.57955261A>G	ExAC,TOPMed,gnomAD
rs779086106	p.Arg501Gln	missense variant	-	NC_000015.10:g.57955252C>T	ExAC,gnomAD
rs746007183	p.Arg501Trp	missense variant	-	NC_000015.10:g.57955253G>A	ExAC,TOPMed,gnomAD
rs746007183	p.Arg501Gly	missense variant	-	NC_000015.10:g.57955253G>C	ExAC,TOPMed,gnomAD
rs115913750	p.Tyr503Cys	missense variant	-	NC_000015.10:g.57955246T>C	1000Genomes
rs780804734	p.Ser504Ter	stop gained	-	NC_000015.10:g.57955243G>C	ExAC,gnomAD
rs754819517	p.Val506Ile	missense variant	-	NC_000015.10:g.57955238C>T	ExAC,gnomAD
rs751479287	p.Lys507Asn	missense variant	-	NC_000015.10:g.57955233C>G	ExAC,gnomAD
NCI-TCGA novel	p.Val509Gly	missense variant	-	NC_000015.10:g.57955228A>C	NCI-TCGA
rs200798769	p.Pro514Leu	missense variant	-	NC_000015.10:g.57955213G>A	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000846	Agenesis	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002893	Refractory anemias	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004763	Barrett Esophagus	disease	BEFREE;GWASCAT;GWASDB
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0012236	DiGeorge Syndrome	disease	MGD
C0012242	Digestive System Disorders	group	GWASCAT
C0025312	Meningomyelocele	disease	BEFREE;CTD_human;LHGDN
C0026654	Moyamoya Disease	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE;CTD_human;GWASCAT
C0029925	Ovarian Carcinoma	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE;CTD_human
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0042842	Vitamin A Deficiency	disease	BEFREE
C0086664	Myelocele	disease	CTD_human
C0086743	Osteoarthrosis Deformans	disease	CTD_human
C0235833	Congenital diaphragmatic hernia	disease	BEFREE
C0242422	Parkinsonian Disorders	group	CTD_human
C0242423	Ramsay Hunt Paralysis Syndrome	disease	CTD_human
C0263746	Osteoarthritis of the hand	disease	BEFREE
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE;GWASCAT
C0376358	Malignant neoplasm of prostate	disease	BEFREE;CTD_human
C0409959	Osteoarthritis, Knee	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0750929	Arnold-Chiari Malformation, Type I	disease	BEFREE
C0751316	Acquired Meningomyelocele	phenotype	CTD_human
C0752097	Autosomal Dominant Juvenile Parkinson Disease	disease	CTD_human
C0752098	Autosomal Dominant Parkinsonism	disease	CTD_human
C0752100	Autosomal Recessive Parkinsonism	disease	CTD_human
C0752101	Parkinsonism, Experimental	disease	CTD_human
C0752104	Familial Juvenile Parkinsonism	disease	CTD_human
C0752105	Parkinsonism, Juvenile	disease	CTD_human
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1275122	Familial multiple trichoepitheliomata	disease	BEFREE
C1868675	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	disease	CTD_human
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	disease	BEFREE
C2931384	Moyamoya disease 1	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001758	retinal dehydrogenase activity	ISS
GO:0001758	retinal dehydrogenase activity	IDA
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	ISS
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA
GO:0016918	retinal binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001568	blood vessel development	IEA
GO:0001822	kidney development	IEA
GO:0001889	liver development	IEA
GO:0001936	regulation of endothelial cell proliferation	IEA
GO:0002138	retinoic acid biosynthetic process	IDA
GO:0003007	heart morphogenesis	IEA
GO:0006776	vitamin A metabolic process	NAS
GO:0007494	midgut development	IEA
GO:0008284	positive regulation of cell population proliferation	IEA
GO:0008285	negative regulation of cell population proliferation	IDA
GO:0009855	determination of bilateral symmetry	IEA
GO:0009954	proximal/distal pattern formation	IEA
GO:0010628	positive regulation of gene expression	IEA
GO:0014032	neural crest cell development	IEA
GO:0016331	morphogenesis of embryonic epithelium	IEA
GO:0021915	neural tube development	IMP
GO:0021983	pituitary gland development	IEA
GO:0030182	neuron differentiation	IEA
GO:0030324	lung development	IEA
GO:0030902	hindbrain development	IEA
GO:0031016	pancreas development	IEA
GO:0031076	embryonic camera-type eye development	IEA
GO:0032355	response to estradiol	IEA
GO:0033189	response to vitamin A	IEA
GO:0034097	response to cytokine	IDA
GO:0035115	embryonic forelimb morphogenesis	IEA
GO:0035799	ureter maturation	IEA
GO:0042572	retinol metabolic process	IEA
GO:0042573	retinoic acid metabolic process	ISS
GO:0042574	retinal metabolic process	IEA
GO:0042904	9-cis-retinoic acid biosynthetic process	IEA
GO:0043065	positive regulation of apoptotic process	IEA
GO:0048566	embryonic digestive tract development	IEA
GO:0048738	cardiac muscle tissue development	IEA
GO:0051289	protein homotetramerization	IDA
GO:0055114	oxidation-reduction process	IEA
GO:0060324	face development	IEA
GO:0071300	cellular response to retinoic acid	IEA
GO:0090242	retinoic acid receptor signaling pathway involved in somitogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	TAS
GO:0048471	perinuclear region of cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-5362517	Signaling by Retinoic Acid	TAS
R-HSA-5365859	RA biosynthesis pathway	TAS
R-HSA-9006931	Signaling by Nuclear Receptors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C003585	22-hydroxycholesterol	22-hydroxycholesterol promotes the reaction [SREBF1 protein binds to ALDH1A2 promoter]	16763553
C003585	22-hydroxycholesterol	22-hydroxycholesterol results in increased expression of ALDH1A2 mRNA	16763553
C057349	2,4-decadienal	ALDH1A2 protein results in increased oxidation of 2,4-decadienal	23220587
C040668	2-ethylhexanoic acid	2-ethylhexanoic acid results in decreased expression of ALDH1A2 mRNA	30578912
C040668	2-ethylhexanoic acid	2-ethylhexanoic acid results in increased expression of ALDH1A2 mRNA	31445079
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of ALDH1A2 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
C055506	4-(diethylamino)benzaldehyde	4-(diethylamino)benzaldehyde binds to and results in decreased activity of ALDH1A2 protein	25512087
C035132	4-phenylbenzoic acid	4-phenylbenzoic acid results in decreased activity of ALDH1A2 protein	12547725
D000079	Acetaldehyde	[CGA protein results in increased abundance of Acetaldehyde] which results in increased expression of ALDH1A2 mRNA	22285649
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of ALDH1A2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of ALDH1A2 mRNA	23630614
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of ALDH1A2 mRNA	16483693
C059765	amphotericin B, deoxycholate drug combination	amphotericin B, deoxycholate drug combination results in increased expression of ALDH1A2 mRNA	22863853
C015001	arsenite	arsenite results in decreased expression of ALDH1A2 mRNA	23974009
C015001	arsenite	arsenite results in decreased expression of ALDH1A2 mRNA	18929588
C015001	arsenite	TRP53 protein affects the reaction [arsenite results in decreased expression of ALDH1A2 mRNA]	18929588
D001547	Benzaldehydes	Benzaldehydes results in decreased activity of ALDH1A2 protein	22079344
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of ALDH1A2 mRNA	26377693
D001629	Bezafibrate	Bezafibrate results in increased expression of ALDH1A2 mRNA	17118139
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of ALDH1A2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of ALDH1A2 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of ALDH1A2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of ALDH1A2 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of ALDH1A2 gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of ALDH1A2 mRNA	30951980
D002083	Butylated Hydroxyanisole	Butylated Hydroxyanisole results in decreased expression of ALDH1A2 mRNA	28927898
D002104	Cadmium	Cadmium inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of ALDH1A2 protein]	29107029
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of ALDH1A2 protein	22941245
C055494	caffeic acid phenethyl ester	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of ALDH1A2 mRNA	20360939
D000068579	Celecoxib	Celecoxib results in decreased expression of ALDH1A2 mRNA	28201806
D002737	Chloroprene	Chloroprene results in decreased expression of ALDH1A2 mRNA	23125180
D002791	Cholesterol, Dietary	Cholesterol, Dietary inhibits the reaction [Pravastatin results in decreased expression of ALDH1A2 mRNA]	16763553
D002791	Cholesterol, Dietary	Cholesterol, Dietary metabolite results in increased expression of ALDH1A2 mRNA	16763553
D002794	Choline	Choline affects the expression of ALDH1A2 mRNA	17616785
C007076	citral	ALDH1A2 protein results in increased oxidation of citral	23220587
D002953	Citrinin	Citrinin results in increased expression of ALDH1A2 mRNA	24052562
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of ALDH1A2 mRNA	19320972
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of ALDH1A2 mRNA	20971185
D003300	Copper	Copper results in decreased expression of ALDH1A2 mRNA	30556269
C089595	cylindrospermopsin	cylindrospermopsin results in increased expression of ALDH1A2 mRNA	23726867
C004742	daidzein	[daidzein co-treated with daidzin co-treated with genistin co-treated with Genistein co-treated with glycitin co-treated with glycitein] affects the expression of ALDH1A2 mRNA	27424125
C013908	daidzin	[daidzein co-treated with daidzin co-treated with genistin co-treated with Genistein co-treated with glycitin co-treated with glycitein] affects the expression of ALDH1A2 mRNA	27424125
C021170	decanaldehyde	ALDH1A2 protein results in increased oxidation of decanaldehyde	23220587
D003840	Deoxycholic Acid	[gluconic acid co-treated with Deoxycholic Acid] results in increased expression of ALDH1A2 mRNA	16556975
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate results in increased expression of ALDH1A2 mRNA	26924002
D004041	Dietary Fats	Dietary Fats results in decreased expression of ALDH1A2 mRNA	25016146
D004041	Dietary Fats	Dietary Fats results in increased expression of ALDH1A2 mRNA	18042831
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of ALDH1A2 mRNA	30102407
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of ALDH1A2 mRNA	20360939
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of ALDH1A2 mRNA	26924002
D004221	Disulfiram	Disulfiram results in decreased activity of ALDH1A2 protein	22079344
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
D004317	Doxorubicin	ALDH1A2 protein results in decreased susceptibility to Doxorubicin	22079344
D004317	Doxorubicin	Doxorubicin results in decreased expression of ALDH1A2 mRNA	29803840
C118739	entinostat	entinostat results in decreased expression of ALDH1A2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
D004958	Estradiol	Estradiol results in increased expression of ALDH1A2 mRNA	30077407
D004958	Estradiol	[Polyphenols co-treated with Estradiol] results in increased expression of ALDH1A2 mRNA	30077407
D000431	Ethanol	Ethanol affects the expression of ALDH1A2 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of ALDH1A2 mRNA	15834898
D011345	Fenofibrate	Fenofibrate results in increased expression of ALDH1A2 mRNA	17118139
C061365	flusilazole	flusilazole results in decreased expression of ALDH1A2 mRNA	22382673
C039281	furan	furan results in decreased methylation of ALDH1A2 gene	27387713
C039281	furan	furan results in increased expression of ALDH1A2 mRNA	27387713
C039281	furan	furan results in increased methylation of ALDH1A2 gene	22079235
D019833	Genistein	[daidzein co-treated with daidzin co-treated with genistin co-treated with Genistein co-treated with glycitin co-treated with glycitein] affects the expression of ALDH1A2 mRNA	27424125
C040641	genistin	[daidzein co-treated with daidzin co-treated with genistin co-treated with Genistein co-treated with glycitin co-treated with glycitein] affects the expression of ALDH1A2 mRNA	27424125
D005839	Gentamicins	Gentamicins results in decreased expression of ALDH1A2 mRNA	22061828
C030691	gluconic acid	[gluconic acid co-treated with Deoxycholic Acid] results in increased expression of ALDH1A2 mRNA	16556975
C086566	glycitein	[daidzein co-treated with daidzin co-treated with genistin co-treated with Genistein co-treated with glycitin co-treated with glycitein] affects the expression of ALDH1A2 mRNA	27424125
C433283	glycitin	[daidzein co-treated with daidzin co-treated with genistin co-treated with Genistein co-treated with glycitin co-treated with glycitein] affects the expression of ALDH1A2 mRNA	27424125
C041508	indeno(1,2,3-cd)pyrene	indeno(1,2,3-cd)pyrene results in decreased expression of ALDH1A2 mRNA	26377693
C474021	indirubin-3'-monoxime	indirubin-3'-monoxime results in decreased expression of ALDH1A2 protein	21948866
C016517	indole-3-carbinol	indole-3-carbinol results in decreased expression of ALDH1A2 mRNA	21948866
C016517	indole-3-carbinol	Lipopolysaccharides affects the susceptibility to [indole-3-carbinol results in decreased expression of ALDH1A2 mRNA]	21948866
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of ALDH1A2 mRNA	25613284
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of ALDH1A2 mRNA	26644586
D019344	Lactic Acid	Lactic Acid results in decreased expression of ALDH1A2 mRNA	30851411
D008070	Lipopolysaccharides	Lipopolysaccharides affects the susceptibility to [indole-3-carbinol results in decreased expression of ALDH1A2 mRNA]	21948866
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of ALDH1A2 protein	21458406
D008694	Methamphetamine	Methamphetamine results in increased expression of ALDH1A2 mRNA	25290377
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of ALDH1A2 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of ALDH1A2 mRNA	26011545
C015358	methylparaben	methylparaben results in decreased expression of ALDH1A2 mRNA	28927898
D008777	Methyltestosterone	Methyltestosterone results in increased expression of ALDH1A2 mRNA	29191790
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of ALDH1A2 mRNA	26924002
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of ALDH1A2 mRNA	25554681
C010463	n-hexanal	ALDH1A2 protein results in increased oxidation of n-hexanal	23220587
D009532	Nickel	Nickel results in decreased expression of ALDH1A2 mRNA	25583101
C007350	nitrofen	nitrofen results in decreased activity of ALDH1A2 protein	12547725
C002491	N,N'-bis(dichloroacetyl)-1,8-octamethylenediamine	N,N'-bis(dichloroacetyl)-1,8-octamethylenediamine results in decreased activity of ALDH1A2 protein	30958995
C002491	N,N'-bis(dichloroacetyl)-1,8-octamethylenediamine	N,N'-bis(dichloroacetyl)-1,8-octamethylenediamine results in decreased activity of ALDH1A2 protein	12547725
C014129	N-nitrosodiethanolamine	N-nitrosodiethanolamine results in increased expression of ALDH1A2 mRNA	30102407
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of ALDH1A2 mRNA	20971185
C025589	ochratoxin A	ochratoxin A results in increased expression of ALDH1A2 mRNA	18417182
D010100	Oxygen	Oxygen deficiency results in decreased expression of ALDH1A2 mRNA	26516004
D000073878	Palm Oil	Palm Oil results in increased expression of ALDH1A2 mRNA	18042831
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of ALDH1A2 mRNA	26272509
D010269	Paraquat	Paraquat affects the expression of ALDH1A2 mRNA	15206577
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of ALDH1A2 mRNA	23228703
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of ALDH1A2 mRNA	24642059
C011272	perfosfamide	ALDH1A2 protein results in decreased susceptibility to perfosfamide	22079344
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of ALDH1A2 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in increased expression of ALDH1A2 mRNA	20813756
D059808	Polyphenols	[Polyphenols co-treated with Estradiol] results in increased expression of ALDH1A2 mRNA	30077407
D059808	Polyphenols	Polyphenols results in decreased expression of ALDH1A2 mRNA	30077407
D017035	Pravastatin	Cholesterol, Dietary inhibits the reaction [Pravastatin results in decreased expression of ALDH1A2 mRNA]	16763553
D017035	Pravastatin	Pravastatin results in decreased expression of ALDH1A2 mRNA	16763553
D011374	Progesterone	Progesterone affects the expression of ALDH1A2 mRNA	17251523
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of ALDH1A2 mRNA	24780913
C033607	puerarin	[tetrabromobisphenol A co-treated with puerarin] affects the expression of ALDH1A2 mRNA	24596333
D011692	Puromycin Aminonucleoside	Puromycin Aminonucleoside results in increased expression of ALDH1A2 mRNA	12660332
C406527	R 115866	R 115866 results in increased expression of ALDH1A2 protein	17047027
D000077185	Resveratrol	Resveratrol results in increased expression of ALDH1A2 mRNA	29990529
D012172	Retinaldehyde	ALDH1A2 protein binds to and results in increased oxidation of Retinaldehyde	23220587
D012172	Retinaldehyde	ALDH1A2 protein results in increased metabolism of Retinaldehyde	16982809
D012172	Retinaldehyde	ALDH1A2 protein results in increased oxidation of Retinaldehyde	17473173
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of ALDH1A2 mRNA	16982809
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of ALDH1A2 mRNA	21427059
C111788	SB 210661	SB 210661 results in decreased activity of ALDH1A2 protein	12547725
D000077149	Sevoflurane	Sevoflurane results in increased expression of ALDH1A2 mRNA	26206149
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of ALDH1A2 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of ALDH1A2 mRNA	23806026
C009277	sodium arsenate	sodium arsenate results in decreased expression of ALDH1A2 mRNA	21795629
C017947	sodium arsenite	sodium arsenite affects the methylation of ALDH1A2 gene	28589171
C017947	sodium arsenite	sodium arsenite results in decreased expression of ALDH1A2 protein	29459688
D013605	T-2 Toxin	T-2 Toxin results in increased expression of ALDH1A2 mRNA	31299295
C020806	tetrabromobisphenol A	[tetrabromobisphenol A co-treated with puerarin] affects the expression of ALDH1A2 mRNA	24596333
D013749	Tetrachlorodibenzodioxin	Cadmium inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of ALDH1A2 protein]	29107029
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ALDH1A2 protein	29107029
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ALDH1A2 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ALDH1A2 mRNA	21097750
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of ALDH1A2 mRNA	25613284
D019284	Thapsigargin	Thapsigargin results in decreased expression of ALDH1A2 mRNA	29453283
D013853	Thioacetamide	Thioacetamide results in increased expression of ALDH1A2 mRNA	23411599
D013893	Thiram	Thiram results in increased expression of ALDH1A2 mRNA	20530235
C009495	titanium dioxide	titanium dioxide results in increased expression of ALDH1A2 mRNA	23557971
C423915	TO-901317	TO-901317 promotes the reaction [SREBF1 protein binds to ALDH1A2 promoter]	16763553
C423915	TO-901317	TO-901317 results in increased expression of ALDH1A2 mRNA	16763553
D014212	Tretinoin	ALDH1A2 protein mutant form inhibits the reaction [Tretinoin results in increased expression of TSHZ1 mRNA]	17035100
D014212	Tretinoin	Tretinoin results in decreased expression of ALDH1A2 mRNA	20530235
D014212	Tretinoin	ALDH1A2 protein results in increased chemical synthesis of Tretinoin	16166285
D014212	Tretinoin	[PPARG protein results in increased expression of ALDH1A2 protein] which results in increased chemical synthesis of Tretinoin	16982809
D014212	Tretinoin	ALDH1A2 affects the chemical synthesis of Tretinoin	15652703
D014212	Tretinoin	ALDH1A2 protein affects the chemical synthesis of Tretinoin	15069081
D014212	Tretinoin	ALDH1A2 protein results in increased chemical synthesis of Tretinoin	16368932; 18831967;
D014212	Tretinoin	[DHRS3 gene mutant form results in increased abundance of Tretinoin] which results in decreased expression of ALDH1A2 mRNA	24005908
D014212	Tretinoin	ALDH1A2 protein results in increased chemical synthesis of Tretinoin	21138835
D014212	Tretinoin	ALDH1A2 protein results in increased chemical synthesis of Tretinoin	10862743; 12547725; 16818722; 16982809; 17473173;
C011559	tributyltin	tributyltin results in increased expression of ALDH1A2 mRNA	29191790
C012589	trichostatin A	trichostatin A results in decreased expression of ALDH1A2 mRNA	15901671
C012589	trichostatin A	trichostatin A results in decreased expression of ALDH1A2 mRNA	24935251; 26705709;
C012589	trichostatin A	trichostatin A results in increased expression of ALDH1A2 mRNA	15901671
D014260	Triclosan	Triclosan results in increased expression of ALDH1A2 mRNA	30510588
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of ALDH1A2 mRNA	29024780
D014415	Tunicamycin	Tunicamycin results in decreased expression of ALDH1A2 mRNA	29453283
D014635	Valproic Acid	Valproic Acid affects the expression of ALDH1A2 protein	25111975
D014635	Valproic Acid	Valproic Acid results in decreased expression of ALDH1A2 mRNA	15901671
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ALDH1A2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of ALDH1A2 mRNA	24935251; 26272509;
D014635	Valproic Acid	Valproic Acid results in increased expression of ALDH1A2 mRNA	28001369; 29501571;
D014635	Valproic Acid	Valproic Acid results in increased expression of ALDH1A2 protein	29501571
D014635	Valproic Acid	Valproic Acid results in increased methylation of ALDH1A2 gene	29154799; 29501571;
D014635	Valproic Acid	Valproic Acid affects the expression of ALDH1A2 mRNA	31445079
D014635	Valproic Acid	Valproic Acid results in decreased expression of ALDH1A2 mRNA	27693483; 30578912;
D014635	Valproic Acid	Valproic Acid results in increased expression of ALDH1A2 mRNA	21427059
D014635	Valproic Acid	Valproic Acid results in increased expression of ALDH1A2 mRNA	15901671
D014640	Vancomycin	Vancomycin results in decreased expression of ALDH1A2 mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of ALDH1A2 gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of ALDH1A2 mRNA	19015723
D014801	Vitamin A	Vitamin A results in decreased expression of ALDH1A2 mRNA	30944279
D015032	Zinc	Zinc deficiency results in decreased expression of ALDH1A2 mRNA	20857495

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0520	NAD
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR016161	Ald_DH/histidinol_DH
IPR016163	Ald_DH_C
IPR016160	Ald_DH_CS_CYS
IPR029510	Ald_DH_CS_GLU
IPR016162	Ald_DH_N
IPR015590	Aldehyde_DH_dom

PROSITE

PROSITE ID	PROSITE Term
PS00070	ALDEHYDE_DEHYDR_CYS
PS00687	ALDEHYDE_DEHYDR_GLU

Pfam

Pfam ID	Pfam Term
PF00171	Aldedh

Gene: ALDH1A2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction