CleftGeneDB-Search

Gene: RDH10

Basic information

Tag	Content
Uniprot ID	Q8IZV5
Entrez ID	157506
Genbank protein ID	AAQ88637.1; AAN64747.1; AAH67131.1;
Genbank nucleotide ID	NM_172037.4
Ensembl protein ID	ENSP00000240285
Ensembl nucleotide ID	ENSG00000121039
Gene name	Retinol dehydrogenase 10
Gene symbol	RDH10
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol.
Sequence	MNIVVEFFVV TFKVLWAFVL AAARWLVRPK EKSVAGQVCL ITGAGSGLGR LFALEFARRR 60 ALLVLWDINT QSNEETAGMV RHIYRDLEAA DAAALQAGNG EEEILPHCNL QVFTYTCDVG 120 KRENVYLTAE RVRKEVGEVS VLVNNAGVVS GHHLLECPDE LIERTMMVNC HAHFWTTKAF 180 LPTMLEINHG HIVTVASSLG LFSTAGVEDY CASKFGVVGF HESLSHELKA AEKDGIKTTL 240 VCPYLVDTGM FRGCRIRKEI EPFLPPLKPD YCVKQAMKAI LTDQPMICTP RLMYIVTFMK 300 SILPFEAVVC MYRFLGADKC MYPFIAQRKQ ATNNNEAKNG I 341

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	RDH10	282852	Q8HZT6		Bos taurus	Prediction	More>>
1:1 ortholog	RDH10	486998	E2R0Q8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	RDH10	102180778	A0A452EW84		Capra hircus	Prediction	More>>
1:1 ortholog	RDH10	157506	Q8IZV5		Homo sapiens	Prediction	More>>
1:1 ortholog	Rdh10	98711	Q8VCH7	CPO	Mus musculus	Publication	More>>
1:1 ortholog	RDH10	472795	H2QWA8		Pan troglodytes	Prediction	More>>
1:1 ortholog	RDH10		A0A286ZUS8		Sus scrofa	Prediction	More>>
1:1 ortholog	RDH10	100340133	G1SV43		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Rdh10	353252	Q80ZF7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	rdh10a		F1RES0		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1257557137	p.Ile3Phe	missense variant	-	NC_000008.11:g.73295296A>T	gnomAD
rs1397684527	p.Ile3Thr	missense variant	-	NC_000008.11:g.73295297T>C	gnomAD
rs780951408	p.Val4Met	missense variant	-	NC_000008.11:g.73295299G>A	ExAC,gnomAD
rs773336664	p.Val5Ala	missense variant	-	NC_000008.11:g.73295303T>C	ExAC,TOPMed,gnomAD
rs769369174	p.Val5Leu	missense variant	-	NC_000008.11:g.73295302G>C	ExAC,gnomAD
rs749230554	p.Glu6Asp	missense variant	-	NC_000008.11:g.73295307G>T	ExAC,gnomAD
rs1172340226	p.Glu6Gly	missense variant	-	NC_000008.11:g.73295306A>G	gnomAD
rs867212084	p.Val9Met	missense variant	-	NC_000008.11:g.73295314G>A	TOPMed,gnomAD
rs867212084	p.Val9Leu	missense variant	-	NC_000008.11:g.73295314G>T	TOPMed,gnomAD
rs1428738168	p.Val9Ala	missense variant	-	NC_000008.11:g.73295315T>C	gnomAD
rs867212084	p.Val9Leu	missense variant	-	NC_000008.11:g.73295314G>C	TOPMed,gnomAD
rs1270058134	p.Thr11Ile	missense variant	-	NC_000008.11:g.73295321C>T	TOPMed,gnomAD
rs770812328	p.Phe12Ser	missense variant	-	NC_000008.11:g.73295324T>C	ExAC,gnomAD
rs774039054	p.Phe12Leu	missense variant	-	NC_000008.11:g.73295325C>A	ExAC,TOPMed,gnomAD
rs759338480	p.Lys13Arg	missense variant	-	NC_000008.11:g.73295327A>G	ExAC,gnomAD
rs1347652724	p.Val14Met	missense variant	-	NC_000008.11:g.73295329G>A	gnomAD
rs1190485689	p.Val19Leu	missense variant	-	NC_000008.11:g.73295344G>T	TOPMed,gnomAD
rs1190485689	p.Val19Met	missense variant	-	NC_000008.11:g.73295344G>A	TOPMed,gnomAD
rs768766057	p.Ala21Val	missense variant	-	NC_000008.11:g.73295351C>T	ExAC,gnomAD
rs1370557423	p.Ala22Val	missense variant	-	NC_000008.11:g.73295354C>T	gnomAD
rs1021188367	p.Arg24Gly	missense variant	-	NC_000008.11:g.73295359C>G	TOPMed,gnomAD
rs533195986	p.Val27Met	missense variant	-	NC_000008.11:g.73295368G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1174433789	p.Arg28Trp	missense variant	-	NC_000008.11:g.73295371C>T	gnomAD
rs1390959398	p.Arg28Pro	missense variant	-	NC_000008.11:g.73295372G>C	TOPMed
rs1168223467	p.Pro29Leu	missense variant	-	NC_000008.11:g.73295375C>T	TOPMed
rs1399017399	p.Lys30Arg	missense variant	-	NC_000008.11:g.73295378A>G	gnomAD
rs1346277234	p.Glu31Asp	missense variant	-	NC_000008.11:g.73295382G>C	gnomAD
rs1301381317	p.Gln37Arg	missense variant	-	NC_000008.11:g.73295399A>G	gnomAD
rs112690392	p.Leu40Phe	missense variant	-	NC_000008.11:g.73295407C>T	gnomAD
rs112690392	p.Leu40Val	missense variant	-	NC_000008.11:g.73295407C>G	gnomAD
rs1415742333	p.Ile41Val	missense variant	-	NC_000008.11:g.73295410A>G	TOPMed
rs1206589757	p.Ala44Gly	missense variant	-	NC_000008.11:g.73295420C>G	TOPMed
rs1224840565	p.Arg50Leu	missense variant	-	NC_000008.11:g.73295438G>T	TOPMed
rs755300818	p.Phe52Leu	missense variant	-	NC_000008.11:g.73295445C>G	ExAC,TOPMed,gnomAD
rs1447105996	p.Arg59His	missense variant	-	NC_000008.11:g.73295465G>A	gnomAD
rs1379574486	p.Ile68Val	missense variant	-	NC_000008.11:g.73295491A>G	gnomAD
rs1468835590	p.Thr70Ala	missense variant	-	NC_000008.11:g.73295497A>G	gnomAD
rs867559240	p.Gly78Asp	missense variant	-	NC_000008.11:g.73295522G>A	TOPMed,gnomAD
rs867559240	p.Gly78Val	missense variant	-	NC_000008.11:g.73295522G>T	TOPMed,gnomAD
rs1415500519	p.Arg81Cys	missense variant	-	NC_000008.11:g.73295530C>T	TOPMed
rs1402539012	p.Tyr84Cys	missense variant	-	NC_000008.11:g.73295540A>G	gnomAD
rs1394484494	p.Arg85Ser	missense variant	-	NC_000008.11:g.73295542C>A	gnomAD
rs1250496717	p.Asp86Asn	missense variant	-	NC_000008.11:g.73295545G>A	TOPMed
rs771306889	p.Glu88Lys	missense variant	-	NC_000008.11:g.73295551G>A	ExAC,TOPMed,gnomAD
rs1236379418	p.Ala89Ser	missense variant	-	NC_000008.11:g.73295554G>T	gnomAD
rs1278611059	p.Ala90Thr	missense variant	-	NC_000008.11:g.73295557G>A	gnomAD
rs1229701671	p.Asp91Asn	missense variant	-	NC_000008.11:g.73295560G>A	gnomAD
rs1214058857	p.Leu95Pro	missense variant	-	NC_000008.11:g.73295573T>C	gnomAD
rs1334637507	p.Leu95Val	missense variant	-	NC_000008.11:g.73295572C>G	TOPMed
rs1230814069	p.Ala97Pro	missense variant	-	NC_000008.11:g.73295578G>C	TOPMed
rs1370763586	p.Glu101Gly	missense variant	-	NC_000008.11:g.73297206A>G	gnomAD
rs556672044	p.Glu103Lys	missense variant	-	NC_000008.11:g.73297211G>A	1000Genomes,ExAC,gnomAD
rs771894802	p.Glu103Ala	missense variant	-	NC_000008.11:g.73297212A>C	ExAC,gnomAD
rs771894802	p.Glu103Gly	missense variant	-	NC_000008.11:g.73297212A>G	ExAC,gnomAD
COSM1101557	p.Glu103Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297213A>C	NCI-TCGA Cosmic
rs1414872613	p.Leu105Gln	missense variant	-	NC_000008.11:g.73297218T>A	gnomAD
rs1324680102	p.Pro106His	missense variant	-	NC_000008.11:g.73297221C>A	gnomAD
COSM3650824	p.Pro106Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297221C>T	NCI-TCGA Cosmic
COSM1101558	p.Pro106Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297220C>T	NCI-TCGA Cosmic
rs770032148	p.His107Asn	missense variant	-	NC_000008.11:g.73297223C>A	ExAC,TOPMed,gnomAD
rs770032148	p.His107Tyr	missense variant	-	NC_000008.11:g.73297223C>T	ExAC,TOPMed,gnomAD
rs145171413	p.Cys108Arg	missense variant	-	NC_000008.11:g.73297226T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145171413	p.Cys108Gly	missense variant	-	NC_000008.11:g.73297226T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1279891122	p.Asn109Ser	missense variant	-	NC_000008.11:g.73297230A>G	gnomAD
rs1279891122	p.Asn109Ile	missense variant	-	NC_000008.11:g.73297230A>T	gnomAD
rs774783285	p.Asn109Asp	missense variant	-	NC_000008.11:g.73297229A>G	ExAC,gnomAD
rs760053367	p.Asn109Lys	missense variant	-	NC_000008.11:g.73297231C>G	ExAC,gnomAD
rs776033179	p.Gln111Pro	missense variant	-	NC_000008.11:g.73297236A>C	ExAC,gnomAD
rs761056077	p.Phe113Tyr	missense variant	-	NC_000008.11:g.73297242T>A	ExAC,gnomAD
rs764773069	p.Asn124Lys	missense variant	-	NC_000008.11:g.73297276C>G	ExAC,gnomAD
rs758352706	p.Val125Ile	missense variant	-	NC_000008.11:g.73297277G>A	ExAC,gnomAD
rs1382657995	p.Thr128Met	missense variant	-	NC_000008.11:g.73297287C>T	gnomAD
rs1296232402	p.Glu130Lys	missense variant	-	NC_000008.11:g.73297292G>A	gnomAD
rs1436935711	p.Val132Ala	missense variant	-	NC_000008.11:g.73297299T>C	TOPMed,gnomAD
COSM751821	p.Val132Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297299T>A	NCI-TCGA Cosmic
rs1316129347	p.Arg133His	missense variant	-	NC_000008.11:g.73297302G>A	TOPMed
rs754709622	p.Arg133Cys	missense variant	-	NC_000008.11:g.73297301C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys134Met	missense variant	-	NC_000008.11:g.73297305A>T	NCI-TCGA
rs944302467	p.Glu135Lys	missense variant	-	NC_000008.11:g.73297307G>A	TOPMed
rs749516657	p.Val136Phe	missense variant	-	NC_000008.11:g.73297310G>T	ExAC
rs190882720	p.Glu138Lys	missense variant	-	NC_000008.11:g.73297316G>A	1000Genomes,ExAC,gnomAD
rs1259079034	p.Val143Ile	missense variant	-	NC_000008.11:g.73297331G>A	gnomAD
NCI-TCGA novel	p.Ser150Pro	missense variant	-	NC_000008.11:g.73297352T>C	NCI-TCGA
rs1464064107	p.His173Asn	missense variant	-	NC_000008.11:g.73297421C>A	TOPMed
COSM3901494	p.His173Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297421C>T	NCI-TCGA Cosmic
rs762042478	p.Thr183Met	missense variant	-	NC_000008.11:g.73319118C>T	ExAC,TOPMed,gnomAD
rs1310116206	p.Glu186Ala	missense variant	-	NC_000008.11:g.73319127A>C	gnomAD
COSM3779350	p.Glu186Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73319126G>C	NCI-TCGA Cosmic
rs1285293062	p.Ser198Ala	missense variant	-	NC_000008.11:g.73319162T>G	gnomAD
rs1213153197	p.Leu199Phe	missense variant	-	NC_000008.11:g.73319167G>C	gnomAD
NCI-TCGA novel	p.Leu199Phe	missense variant	-	NC_000008.11:g.73319167G>T	NCI-TCGA
NCI-TCGA novel	p.Ser203Gly	missense variant	-	NC_000008.11:g.73319177A>G	NCI-TCGA
NCI-TCGA novel	p.Ala205Ser	missense variant	-	NC_000008.11:g.73319183G>T	NCI-TCGA
NCI-TCGA novel	p.Gly206Arg	missense variant	-	NC_000008.11:g.73319186G>A	NCI-TCGA
rs1272790543	p.Val207Ile	missense variant	-	NC_000008.11:g.73319189G>A	gnomAD
NCI-TCGA novel	p.Glu208Lys	missense variant	-	NC_000008.11:g.73319192G>A	NCI-TCGA
rs762557242	p.Asp209His	missense variant	-	NC_000008.11:g.73320932G>C	ExAC,gnomAD
rs1199360293	p.Lys214Glu	missense variant	-	NC_000008.11:g.73320947A>G	gnomAD
COSM3779351	p.Glu227Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73320986G>A	NCI-TCGA Cosmic
rs1213492883	p.Leu228Ile	missense variant	-	NC_000008.11:g.73320989C>A	gnomAD
NCI-TCGA novel	p.Leu228Arg	missense variant	-	NC_000008.11:g.73320990T>G	NCI-TCGA
rs973578810	p.Lys229Arg	missense variant	-	NC_000008.11:g.73320993A>G	TOPMed
rs1247354058	p.Ala230Thr	missense variant	-	NC_000008.11:g.73320995G>A	gnomAD
rs758906627	p.Ala231Thr	missense variant	-	NC_000008.11:g.73320998G>A	ExAC,TOPMed,gnomAD
rs1338693025	p.Ala231Val	missense variant	-	NC_000008.11:g.73320999C>T	gnomAD
rs920379933	p.Glu232Gly	missense variant	-	NC_000008.11:g.73321002A>G	gnomAD
COSM3901495	p.Gly235Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73321011G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile236Asn	missense variant	-	NC_000008.11:g.73321014T>A	NCI-TCGA
rs752567318	p.Val241Ile	missense variant	-	NC_000008.11:g.73321028G>A	ExAC,gnomAD
COSM4932114	p.Tyr244Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73321038A>G	NCI-TCGA Cosmic
rs1427297238	p.Leu245Phe	missense variant	-	NC_000008.11:g.73321040C>T	TOPMed,gnomAD
rs1399039554	p.Met250Val	missense variant	-	NC_000008.11:g.73321055A>G	gnomAD
rs760588808	p.Cys254Trp	missense variant	-	NC_000008.11:g.73321069C>G	ExAC,gnomAD
rs950256022	p.Arg255Gln	missense variant	-	NC_000008.11:g.73321071G>A	TOPMed,gnomAD
COSM1101562	p.Arg255Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.73321070C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg257Gly	missense variant	-	NC_000008.11:g.73321076A>G	NCI-TCGA
rs563952870	p.Lys258Glu	missense variant	-	NC_000008.11:g.73322680A>G	1000Genomes,ExAC,gnomAD
COSM1101563	p.Glu259Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.73322683G>T	NCI-TCGA Cosmic
rs1009581987	p.Ile260Thr	missense variant	-	NC_000008.11:g.73322687T>C	TOPMed
rs771788342	p.Ile260Val	missense variant	-	NC_000008.11:g.73322686A>G	gnomAD
rs1368646440	p.Ile260Met	missense variant	-	NC_000008.11:g.73322688T>G	gnomAD
rs771788342	p.Ile260Phe	missense variant	-	NC_000008.11:g.73322686A>T	gnomAD
NCI-TCGA novel	p.Pro262His	missense variant	-	NC_000008.11:g.73322693C>A	NCI-TCGA
rs531103692	p.Phe263Leu	missense variant	-	NC_000008.11:g.73322697T>A	1000Genomes,ExAC,gnomAD
rs1349973397	p.Pro265Ser	missense variant	-	NC_000008.11:g.73322701C>T	gnomAD
NCI-TCGA novel	p.Pro266His	missense variant	-	NC_000008.11:g.73322705C>A	NCI-TCGA
NCI-TCGA novel	p.Tyr271Phe	missense variant	-	NC_000008.11:g.73322720A>T	NCI-TCGA
rs1270578090	p.Lys274Asn	missense variant	-	NC_000008.11:g.73322730G>T	gnomAD
rs1333140987	p.Gln275Glu	missense variant	-	NC_000008.11:g.73322731C>G	gnomAD
rs1221366050	p.Gln275Pro	missense variant	-	NC_000008.11:g.73322732A>C	gnomAD
rs1019217425	p.Met277Val	missense variant	-	NC_000008.11:g.73322737A>G	TOPMed
NCI-TCGA novel	p.Lys278Asn	missense variant	-	NC_000008.11:g.73322742G>T	NCI-TCGA
rs1488623669	p.Leu281Pro	missense variant	-	NC_000008.11:g.73322750T>C	gnomAD
NCI-TCGA novel	p.Leu281Ile	missense variant	-	NC_000008.11:g.73322749C>A	NCI-TCGA
rs1248929043	p.Pro285Ser	missense variant	-	NC_000008.11:g.73322761C>T	gnomAD
NCI-TCGA novel	p.Pro285Leu	missense variant	-	NC_000008.11:g.73322762C>T	NCI-TCGA
COSM1101564	p.Met286Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322764A>G	NCI-TCGA Cosmic
COSM4835244	p.Ile287Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322769C>G	NCI-TCGA Cosmic
rs1210602500	p.Arg291Cys	missense variant	-	NC_000008.11:g.73322779C>T	TOPMed
rs752747246	p.Arg291His	missense variant	-	NC_000008.11:g.73322780G>A	ExAC,gnomAD
COSM6181549	p.Arg291Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322780G>T	NCI-TCGA Cosmic
rs1350655030	p.Met293Thr	missense variant	-	NC_000008.11:g.73322786T>C	gnomAD
rs1163872682	p.Met293Val	missense variant	-	NC_000008.11:g.73322785A>G	gnomAD
rs1368522051	p.Tyr294Cys	missense variant	-	NC_000008.11:g.73322789A>G	gnomAD
rs756117140	p.Ile295Met	missense variant	-	NC_000008.11:g.73322793C>G	ExAC,TOPMed,gnomAD
rs74821757	p.Val296Met	missense variant	-	NC_000008.11:g.73322794G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1369953562	p.Val296Ala	missense variant	-	NC_000008.11:g.73322795T>C	gnomAD
COSM3779352	p.Lys300Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322808G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile302Val	missense variant	-	NC_000008.11:g.73322914A>G	NCI-TCGA
NCI-TCGA novel	p.Phe305Val	missense variant	-	NC_000008.11:g.73322923T>G	NCI-TCGA
rs775770627	p.Val308Ile	missense variant	-	NC_000008.11:g.73322932G>A	ExAC
rs760815013	p.Cys310Ser	missense variant	-	NC_000008.11:g.73322939G>C	ExAC,TOPMed,gnomAD
rs764131251	p.Met311Ile	missense variant	-	NC_000008.11:g.73322943G>A	ExAC,gnomAD
rs1228455605	p.Arg313Trp	missense variant	-	NC_000008.11:g.73322947C>T	gnomAD
rs754396419	p.Arg313Gln	missense variant	-	NC_000008.11:g.73322948G>A	ExAC,gnomAD
COSM267324	p.Lys319Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322965A>G	NCI-TCGA Cosmic
rs750758856	p.Gln327Lys	missense variant	-	NC_000008.11:g.73322989C>A	ExAC,gnomAD
rs758733414	p.Arg328Lys	missense variant	-	NC_000008.11:g.73322993G>A	ExAC,gnomAD
rs1186493564	p.Arg328Ser	missense variant	-	NC_000008.11:g.73322994A>C	gnomAD
COSM3835008	p.Arg328Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322993G>T	NCI-TCGA Cosmic
rs779629054	p.Lys329Asn	missense variant	-	NC_000008.11:g.73322997G>C	ExAC,gnomAD
rs754573984	p.Gln330Glu	missense variant	-	NC_000008.11:g.73322998C>G	ExAC,gnomAD
rs754573984	p.Gln330Lys	missense variant	-	NC_000008.11:g.73322998C>A	ExAC,gnomAD
rs201868320	p.Ala331Asp	missense variant	-	NC_000008.11:g.73323002C>A	ExAC,gnomAD
rs1413985262	p.Asn333Lys	missense variant	-	NC_000008.11:g.73323009C>A	gnomAD
rs1177423874	p.Asn334Lys	missense variant	-	NC_000008.11:g.73323012T>A	gnomAD
rs1361470732	p.Asn335Lys	missense variant	-	NC_000008.11:g.73323015T>A	gnomAD
rs1433319993	p.Glu336Lys	missense variant	-	NC_000008.11:g.73323016G>A	gnomAD
rs1435292027	p.Ala337Glu	missense variant	-	NC_000008.11:g.73323020C>A	gnomAD
rs1366415775	p.Ala337Thr	missense variant	-	NC_000008.11:g.73323019G>A	gnomAD
rs777696135	p.Asn339Thr	missense variant	-	NC_000008.11:g.73323026A>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008297	Choanal Atresia	disease	BEFREE
C0015927	Fetal Death	phenotype	CTD_human
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0023903	Liver neoplasms	group	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C2239176	Liver carcinoma	disease	BEFREE;LHGDN

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004745	retinol dehydrogenase activity	IDA
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
GO:0052650	NADP-retinol dehydrogenase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001523	retinoid metabolic process	TAS
GO:0001656	metanephros development	IEA
GO:0001701	in utero embryonic development	IEA
GO:0002138	retinoic acid biosynthetic process	IEA
GO:0007601	visual perception	IDA
GO:0008406	gonad development	IEA
GO:0014032	neural crest cell development	IEA
GO:0031076	embryonic camera-type eye development	IEA
GO:0035115	embryonic forelimb morphogenesis	IEA
GO:0042572	retinol metabolic process	IEA
GO:0042572	retinol metabolic process	IDA
GO:0042574	retinal metabolic process	IDA
GO:0043583	ear development	IEA
GO:0043584	nose development	IEA
GO:0048703	embryonic viscerocranium morphogenesis	IEA
GO:0055114	oxidation-reduction process	IEA
GO:0060431	primary lung bud formation	IEA
GO:0060449	bud elongation involved in lung branching	IEA
GO:1900054	positive regulation of retinoic acid biosynthetic process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0005811	lipid droplet	IBA
GO:0016021	integral component of membrane	IDA
GO:0005634	nucleus	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-2187338	Visual phototransduction	TAS
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-418594	G alpha (i) signalling events	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
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of RDH10 mRNA	25380136
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of RDH10 mRNA	18648102
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of RDH10 mRNA	25380136
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 increased expression of RDH10 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 increased expression of RDH10 mRNA	27188386
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of RDH10 mRNA	22485181
C496492	abrine	abrine results in decreased expression of RDH10 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of RDH10 mRNA	21420995
D000082	Acetaminophen	Acetaminophen affects the expression of RDH10 mRNA	17562736
D020106	Acrylamide	Acrylamide results in increased expression of RDH10 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of RDH10 mRNA	21641981
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of RDH10 mRNA	21298039
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of RDH10 mRNA	16483693
D001280	Atrazine	Atrazine results in increased expression of RDH10 mRNA	29505797
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of RDH10 mRNA	19770486
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of RDH10 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of RDH10 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of RDH10 mRNA	25181051; 30816183;
C018475	butyraldehyde	butyraldehyde results in decreased expression of RDH10 mRNA	26079696
C584509	C646 compound	C646 compound results in decreased expression of RDH10 mRNA	26191083
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of RDH10 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of RDH10 mRNA	31150632
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of RDH10 mRNA	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of RDH10 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of RDH10 mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in increased expression of RDH10 mRNA	19320972
D003042	Cocaine	Cocaine affects the expression of RDH10 mRNA	20187946
D000069439	Dasatinib	Dasatinib results in increased expression of RDH10 mRNA	20579391
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of RDH10 mRNA	26924002
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of RDH10 mRNA	21527772
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in decreased expression of RDH10 mRNA	25380136
D004147	Dioxins	Dioxins affects the expression of RDH10 mRNA	20463971
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 increased expression of RDH10 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 increased expression of RDH10 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of RDH10 mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in increased expression of RDH10 mRNA	30031762
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of RDH10 mRNA	16872691
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of RDH10 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of RDH10 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RDH10 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of RDH10 mRNA	23129252
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of RDH10 mRNA	27776689
D017313	Fenretinide	Fenretinide results in decreased expression of RDH10 mRNA	28973697
D017313	Fenretinide	Fenretinide results in increased expression of RDH10 mRNA	28973697
C082360	fipronil	fipronil results in increased expression of RDH10 mRNA	23962444
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of RDH10 mRNA	20938992
C001277	geldanamycin	geldanamycin results in increased expression of RDH10 mRNA	26705709
D005897	Glafenine	Glafenine results in decreased expression of RDH10 mRNA	24136188
D005947	Glucose	Glucose results in decreased expression of RDH10 mRNA	25627686
C492448	ICG 001	ICG 001 results in decreased expression of RDH10 mRNA	26191083
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of RDH10 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of RDH10 mRNA	24796395
C410337	K 7174	K 7174 results in increased expression of RDH10 mRNA	24086573
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of RDH10 mRNA	25613284
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of RDH10 mRNA	20938992
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of RDH10 mRNA	26924002
D009243	NAD	NAD binds to and results in increased activity of RDH10 protein	25526675
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of RDH10 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of RDH10 mRNA	25729387
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 increased expression of RDH10 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of RDH10 mRNA	26272509
D000077205	Pioglitazone	Pioglitazone results in increased expression of RDH10 mRNA	30031879
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of RDH10 mRNA	19710929
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of RDH10 mRNA	19162173
D011374	Progesterone	Progesterone results in increased expression of RDH10 mRNA	23018184
D000077185	Resveratrol	Resveratrol results in decreased expression of RDH10 mRNA	25905778
D012172	Retinaldehyde	RDH10 protein results in increased chemical synthesis of Retinaldehyde	17473173
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of RDH10 mRNA	16982809
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of RDH10 protein	16982809
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of RDH10 mRNA	25895662
D012834	Silver	Silver results in decreased expression of RDH10 mRNA	27131904
D012999	Soman	Soman results in increased expression of RDH10 mRNA	19281266
D013629	Tamoxifen	Tamoxifen affects the expression of RDH10 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of RDH10 mRNA	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RDH10 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RDH10 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of RDH10 mRNA	19770486; 28213091;
D013806	Theophylline	Theophylline results in increased expression of RDH10 mRNA	18951874
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of RDH10 mRNA	28065790
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of RDH10 mRNA	25729387
D014212	Tretinoin	[PPARG protein results in increased expression of RDH10 protein] which results in increased chemical synthesis of Tretinoin	16982809
D014212	Tretinoin	Tretinoin results in increased expression of RDH10 mRNA	21934132
D014212	Tretinoin	[DHRS3 gene mutant form results in increased abundance of Tretinoin] which results in decreased expression of RDH10 mRNA	24005908
D014212	Tretinoin	RDH10 protein results in increased chemical synthesis of Tretinoin	21138835
D014212	Tretinoin	Tretinoin affects the expression of RDH10 mRNA	22262565
D014212	Tretinoin	Tretinoin results in decreased expression of RDH10 mRNA	20488242
C011559	tributyltin	tributyltin results in increased expression of RDH10 mRNA	29505797
D014520	Urethane	Urethane results in increased expression of RDH10 mRNA	28818685
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 increased expression of RDH10 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of RDH10 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of RDH10 mRNA	23179753; 24383497; 24935251; 26272509; 27188386; 28001369;
D014640	Vancomycin	Vancomycin results in decreased expression of RDH10 mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of RDH10 gene	25560391
D014801	Vitamin A	RDH10 protein results in increased oxidation of Vitamin A	17473173
D014801	Vitamin A	RDH10 protein results in increased oxidation of Vitamin A	16982809
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of RDH10 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0256	Endoplasmic reticulum
KW-0472	Membrane
KW-0492	Microsome
KW-0521	NADP
KW-0560	Oxidoreductase
KW-1185	Reference proteome
KW-0735	Signal-anchor
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR036291	NAD(P)-bd_dom_sf
IPR032970	RDH10
IPR020904	Sc_DH/Rdtase_CS
IPR002347	SDR_fam

PROSITE

PROSITE ID	PROSITE Term
PS00061	ADH_SHORT

Pfam

Pfam ID	Pfam Term
PF00106	adh_short

Gene: RDH10

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

There is no related protein structure for this gene.

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