CleftGeneDB-Search

Gene: HOXA2

Basic information

Tag	Content
Uniprot ID	O43364; A1L4K3; B2RMW3;
Entrez ID	3199
Genbank protein ID	EAW93864.1; AAI30572.1; AAI36501.1; EAL24227.1; AAS00375.1;
Genbank nucleotide ID	NM_006735.3
Ensembl protein ID	ENSP00000222718
Ensembl nucleotide ID	ENSG00000105996
Gene name	Homeobox protein Hox-A2
Gene symbol	HOXA2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Sequence	MNYEFEREIG FINSQPSLAE CLTSFPPVAD TFQSSSIKTS TLSHSTLIPP PFEQTIPSLN 60 PGSHPRHGAG GRPKPSPAGS RGSPVPAGAL QPPEYPWMKE KKAAKKTALL PAAAAAATAA 120 ATGPACLSHK ESLEIADGSG GGSRRLRTAY TNTQLLELEK EFHFNKYLCR PRRVEIAALL 180 DLTERQVKVW FQNRRMKHKR QTQCKENQNS EGKCKSLEDS EKVEEDEEEK TLFEQALSVS 240 GALLEREGYT FQQNALSQQQ APNGHNGDSQ SFPVSPLTSN EKNLKHFQHQ SPTVPNCLST 300 MGQNCGAGLN NDSPEALEVP SLQDFSVFST DSCLQLSDAV SPSLPGSLDS PVDISADSLD 360 FFTDTLTTID LQHLNY 376

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	HOXA2		F1MD21			Bos taurus	Prediction	More>>
1:1 ortholog	HOXA2	609592	E2R5Y1			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	HOXA2	102172597	A0A452FXW8			Capra hircus	Prediction	More>>
1:1 ortholog	HOXA2	3199	O43364			Homo sapiens	Prediction	More>>
1:1 ortholog	Hoxa2	15399	P31245	CPO	E12.5, E14.0, E13.5, E14.5, E15.0, E15.5	Mus musculus	Publication	More>>
1:1 ortholog	HOXA2	100519993	F1SHT0			Sus scrofa	Prediction	More>>
1:1 ortholog	Hoxa2	108348165	G3V6R6			Rattus norvegicus	Prediction	More>>
1:1 ortholog	hoxa2b		B3DG99			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Asn2Thr	missense variant	-	NC_000007.14:g.27102496T>G	NCI-TCGA
NCI-TCGA novel	p.Glu4Lys	missense variant	-	NC_000007.14:g.27102491C>T	NCI-TCGA
rs1169077683	p.Phe5Leu	missense variant	-	NC_000007.14:g.27102488A>G	TOPMed
rs377592897	p.Phe5Leu	missense variant	-	NC_000007.14:g.27102486A>T	ESP,ExAC,TOPMed
rs146562288	p.Ile9Thr	missense variant	-	NC_000007.14:g.27102475A>G	ESP,ExAC,gnomAD
rs900766307	p.Gly10Asp	missense variant	-	NC_000007.14:g.27102472C>T	TOPMed
rs1325271483	p.Ser14Gly	missense variant	-	NC_000007.14:g.27102461T>C	TOPMed
rs1009544450	p.Gln15Arg	missense variant	-	NC_000007.14:g.27102457T>C	TOPMed
COSM746322	p.Ala19Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27102446C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala19Thr	missense variant	-	NC_000007.14:g.27102446C>T	NCI-TCGA
NCI-TCGA novel	p.Glu20Gly	missense variant	-	NC_000007.14:g.27102442T>C	NCI-TCGA
NCI-TCGA novel	p.Leu22Met	missense variant	-	NC_000007.14:g.27102437G>T	NCI-TCGA
NCI-TCGA novel	p.Thr23Ser	missense variant	-	NC_000007.14:g.27102434T>A	NCI-TCGA
NCI-TCGA novel	p.Ser24Thr	missense variant	-	NC_000007.14:g.27102431A>T	NCI-TCGA
rs1486523031	p.Phe25Ser	missense variant	-	NC_000007.14:g.27102427A>G	TOPMed
rs777207853	p.Pro26Ser	missense variant	-	NC_000007.14:g.27102425G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro27LeuPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27102426A>-	NCI-TCGA
rs187162003	p.Pro27Leu	missense variant	-	NC_000007.14:g.27102421G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs187162003	p.Pro27Arg	missense variant	-	NC_000007.14:g.27102421G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala29Thr	missense variant	-	NC_000007.14:g.27102416C>T	NCI-TCGA
rs774102766	p.Ala29Asp	missense variant	-	NC_000007.14:g.27102415G>T	ExAC,gnomAD
rs774102766	p.Ala29Val	missense variant	-	NC_000007.14:g.27102415G>A	ExAC,gnomAD
COSM3411956	p.Asp30Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27102412T>A	NCI-TCGA Cosmic
rs1391121068	p.Asp30Asn	missense variant	-	NC_000007.14:g.27102413C>T	gnomAD
NCI-TCGA novel	p.Thr31Ser	missense variant	-	NC_000007.14:g.27102410T>A	NCI-TCGA
rs768054290	p.Thr31Ala	missense variant	-	NC_000007.14:g.27102410T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln33Ter	stop gained	-	NC_000007.14:g.27102404G>A	NCI-TCGA
NCI-TCGA novel	p.Ser34Arg	missense variant	-	NC_000007.14:g.27102399A>C	NCI-TCGA
rs1174597834	p.Ser35Pro	missense variant	-	NC_000007.14:g.27102398A>G	gnomAD
NCI-TCGA novel	p.Ser36Ter	stop gained	-	NC_000007.14:g.27102394G>C	NCI-TCGA
rs1053687605	p.Ser36Pro	missense variant	-	NC_000007.14:g.27102395A>G	TOPMed,gnomAD
rs748771086	p.Ile37Val	missense variant	-	NC_000007.14:g.27102392T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys38Asn	missense variant	-	NC_000007.14:g.27102387C>A	NCI-TCGA
rs934753634	p.Lys38Asn	missense variant	-	NC_000007.14:g.27102387C>G	TOPMed
NCI-TCGA novel	p.Thr39Ser	missense variant	-	NC_000007.14:g.27102386T>A	NCI-TCGA
rs1015940429	p.Thr39Ile	missense variant	-	NC_000007.14:g.27102385G>A	gnomAD
rs1376957261	p.Ser40Leu	missense variant	-	NC_000007.14:g.27102382G>A	TOPMed
rs774846881	p.Ser40Ala	missense variant	-	NC_000007.14:g.27102383A>C	ExAC,gnomAD
rs769835361	p.Leu42Phe	missense variant	-	NC_000007.14:g.27102377G>A	ExAC,gnomAD
rs769835361	p.Leu42Val	missense variant	-	NC_000007.14:g.27102377G>C	ExAC,gnomAD
rs1179402139	p.His44Gln	missense variant	-	NC_000007.14:g.27102369G>C	gnomAD
NCI-TCGA novel	p.Ser45Leu	missense variant	-	NC_000007.14:g.27102367G>A	NCI-TCGA
rs745761688	p.Ser45Ala	missense variant	-	NC_000007.14:g.27102368A>C	ExAC
rs1212639456	p.Leu47Arg	missense variant	-	NC_000007.14:g.27102361A>C	gnomAD
rs969176382	p.Pro49Ala	missense variant	-	NC_000007.14:g.27102356G>C	TOPMed,gnomAD
rs756997716	p.Pro51Ala	missense variant	-	NC_000007.14:g.27102350G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe52LeuPheSerTerUnk	frameshift	-	NC_000007.14:g.27102345A>-	NCI-TCGA
NCI-TCGA novel	p.Ile56Ser	missense variant	-	NC_000007.14:g.27102334A>C	NCI-TCGA
rs747264534	p.Ile56Val	missense variant	-	NC_000007.14:g.27102335T>C	ExAC,TOPMed,gnomAD
rs757179919	p.Ser58Arg	missense variant	-	NC_000007.14:g.27102327G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro61His	missense variant	-	NC_000007.14:g.27102319G>T	NCI-TCGA
rs778857731	p.Gly62Ser	missense variant	-	NC_000007.14:g.27102317C>T	ExAC,gnomAD
rs778857731	p.Gly62Cys	missense variant	-	NC_000007.14:g.27102317C>A	ExAC,gnomAD
rs1348790535	p.Ser63Asn	missense variant	-	NC_000007.14:g.27102313C>T	TOPMed
rs761816750	p.His64Pro	missense variant	-	NC_000007.14:g.27102310T>G	gnomAD
rs555246646	p.Pro65Ala	missense variant	-	NC_000007.14:g.27102308G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1421522055	p.Arg66His	missense variant	-	NC_000007.14:g.27102304C>T	gnomAD
rs1421522055	p.Arg66Leu	missense variant	-	NC_000007.14:g.27102304C>A	gnomAD
rs1298901271	p.Arg66Cys	missense variant	-	NC_000007.14:g.27102305G>A	gnomAD
rs761051577	p.Gly68Ser	missense variant	-	NC_000007.14:g.27102299C>T	ExAC,TOPMed,gnomAD
rs761051577	p.Gly68Cys	missense variant	-	NC_000007.14:g.27102299C>A	ExAC,TOPMed,gnomAD
COSM4931586	p.Ala69Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27102296C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala69Thr	missense variant	-	NC_000007.14:g.27102296C>T	NCI-TCGA
rs1311620339	p.Gly70Val	missense variant	-	NC_000007.14:g.27102292C>A	TOPMed,gnomAD
rs1368873477	p.Gly71Ser	missense variant	-	NC_000007.14:g.27102290C>T	gnomAD
COSM3880390	p.Arg72His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27102286C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg72Cys	missense variant	-	NC_000007.14:g.27102287G>A	NCI-TCGA
rs759492574	p.Pro77Leu	missense variant	-	NC_000007.14:g.27102271G>A	ExAC,gnomAD
rs759492574	p.Pro77His	missense variant	-	NC_000007.14:g.27102271G>T	ExAC,gnomAD
rs769164404	p.Pro77Thr	missense variant	-	NC_000007.14:g.27102272G>T	ExAC,gnomAD
rs1205106631	p.Ala78Val	missense variant	-	NC_000007.14:g.27102268G>A	gnomAD
rs770719215	p.Gly79Val	missense variant	-	NC_000007.14:g.27102265C>A	ExAC,gnomAD
rs746750068	p.Arg81Ser	missense variant	-	NC_000007.14:g.27102260G>T	ExAC,TOPMed,gnomAD
rs746750068	p.Arg81Cys	missense variant	-	NC_000007.14:g.27102260G>A	ExAC,TOPMed,gnomAD
rs1355069392	p.Pro84Arg	missense variant	-	NC_000007.14:g.27102250G>C	gnomAD
rs552586989	p.Pro86Thr	missense variant	-	NC_000007.14:g.27102245G>T	1000Genomes,ExAC,gnomAD
rs1394481183	p.Gln91His	missense variant	-	NC_000007.14:g.27102228C>G	TOPMed
rs943539092	p.Glu94Gly	missense variant	-	NC_000007.14:g.27102220T>C	TOPMed,gnomAD
rs1043147767	p.Glu94Lys	missense variant	-	NC_000007.14:g.27102221C>T	TOPMed
rs748291367	p.Lys99Arg	missense variant	-	NC_000007.14:g.27102205T>C	ExAC,gnomAD
rs889283388	p.Lys102Glu	missense variant	-	NC_000007.14:g.27102197T>C	gnomAD
rs1052478331	p.Lys102Thr	missense variant	-	NC_000007.14:g.27102196T>G	gnomAD
rs1165363050	p.Ala103Glu	missense variant	-	NC_000007.14:g.27102193G>T	gnomAD
rs950463310	p.Lys105Glu	missense variant	-	NC_000007.14:g.27102188T>C	TOPMed
rs1027376181	p.Lys106Arg	missense variant	-	NC_000007.14:g.27102184T>C	TOPMed
rs1268681908	p.Ala108Thr	missense variant	-	NC_000007.14:g.27102179C>T	TOPMed
rs1458774420	p.Leu109Phe	missense variant	-	NC_000007.14:g.27102176G>A	TOPMed,gnomAD
rs754397883	p.Leu110Gln	missense variant	-	NC_000007.14:g.27102172A>T	ExAC,gnomAD
rs780647022	p.Pro111Gln	missense variant	-	NC_000007.14:g.27102169G>T	ExAC,TOPMed,gnomAD
rs1191788818	p.Pro111Thr	missense variant	-	NC_000007.14:g.27102170G>T	TOPMed,gnomAD
rs780647022	p.Pro111Leu	missense variant	-	NC_000007.14:g.27102169G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala112Thr	missense variant	-	NC_000007.14:g.27102167C>T	NCI-TCGA
rs200386246	p.Ala113Val	missense variant	-	NC_000007.14:g.27102163G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1212363127	p.Ala115Thr	missense variant	-	NC_000007.14:g.27102158C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala116Thr	missense variant	-	NC_000007.14:g.27102155C>T	NCI-TCGA
rs867890451	p.Ala117Ser	missense variant	-	NC_000007.14:g.27102152C>A	TOPMed,gnomAD
rs867890451	p.Ala117Thr	missense variant	-	NC_000007.14:g.27102152C>T	TOPMed,gnomAD
rs767741182	p.Thr118Ile	missense variant	-	NC_000007.14:g.27102148G>A	ExAC,TOPMed,gnomAD
rs750882072	p.Thr118Ala	missense variant	-	NC_000007.14:g.27102149T>C	ExAC,TOPMed
rs369906511	p.Ala119Ser	missense variant	-	NC_000007.14:g.27102146C>A	ESP,TOPMed
rs1269695013	p.Ala120Glu	missense variant	-	NC_000007.14:g.27102142G>T	gnomAD
rs1269695013	p.Ala120Val	missense variant	-	NC_000007.14:g.27102142G>A	gnomAD
rs752243932	p.Thr122Ile	missense variant	-	NC_000007.14:g.27102136G>A	ExAC
rs1231337235	p.Thr122Ser	missense variant	-	NC_000007.14:g.27102137T>A	TOPMed
rs894512210	p.Gly123Val	missense variant	-	NC_000007.14:g.27102133C>A	TOPMed
rs758981616	p.Gly123Arg	missense variant	-	NC_000007.14:g.27102134C>G	ExAC,gnomAD
rs1438603716	p.Pro124His	missense variant	-	NC_000007.14:g.27102130G>T	gnomAD
NCI-TCGA novel	p.Ser128Asn	missense variant	-	NC_000007.14:g.27102118C>T	NCI-TCGA
rs1393516595	p.Ser128Arg	missense variant	-	NC_000007.14:g.27102117G>T	gnomAD
RCV000324905	p.Lys130Arg	missense variant	Microtia, hearing impairment, and cleft palate	NC_000007.14:g.27102112T>C	ClinVar
rs886062266	p.Lys130Arg	missense variant	-	NC_000007.14:g.27102112T>C	-
rs1193761151	p.Ser132Tyr	missense variant	-	NC_000007.14:g.27101462G>T	gnomAD
rs139504171	p.Ser132Thr	missense variant	-	NC_000007.14:g.27101463A>T	ESP,ExAC,TOPMed,gnomAD
RCV000288854	p.Ser132Thr	missense variant	Microtia, hearing impairment, and cleft palate	NC_000007.14:g.27101463A>T	ClinVar
rs1480084421	p.Ile135Met	missense variant	-	NC_000007.14:g.27101452G>C	gnomAD
COSM3637714	p.Asp137Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101448C>T	NCI-TCGA Cosmic
rs1280449297	p.Asp137His	missense variant	-	NC_000007.14:g.27101448C>G	TOPMed,gnomAD
rs776760448	p.Asp137Glu	missense variant	-	NC_000007.14:g.27101446A>T	ExAC,gnomAD
COSM6109646	p.Gly138Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101444C>A	NCI-TCGA Cosmic
rs771410610	p.Gly138Ser	missense variant	-	NC_000007.14:g.27101445C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser139Arg	missense variant	-	NC_000007.14:g.27101440G>C	NCI-TCGA
rs1276142131	p.Ser139Asn	missense variant	-	NC_000007.14:g.27101441C>T	gnomAD
rs747522109	p.Ser139Arg	missense variant	-	NC_000007.14:g.27101440G>T	ExAC,TOPMed,gnomAD
rs772381717	p.Gly140Val	missense variant	-	NC_000007.14:g.27101438C>A	ExAC,TOPMed,gnomAD
rs772364626	p.Gly140Cys	missense variant	-	NC_000007.14:g.27101439C>A	ExAC,TOPMed,gnomAD
rs772364626	p.Gly140Ser	missense variant	-	NC_000007.14:g.27101439C>T	ExAC,TOPMed,gnomAD
rs779619613	p.Gly141Arg	missense variant	-	NC_000007.14:g.27101436C>T	ExAC,TOPMed,gnomAD
rs755775462	p.Gly142Glu	missense variant	-	NC_000007.14:g.27101432C>T	ExAC,TOPMed,gnomAD
rs755775462	p.Gly142Val	missense variant	-	NC_000007.14:g.27101432C>A	ExAC,TOPMed,gnomAD
rs1432866173	p.Ser143Pro	missense variant	-	NC_000007.14:g.27101430A>G	gnomAD
rs749965554	p.Arg144Gln	missense variant	-	NC_000007.14:g.27101426C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg145Gly	missense variant	-	NC_000007.14:g.27101424G>C	NCI-TCGA
rs1171980594	p.Arg145His	missense variant	-	NC_000007.14:g.27101423C>T	gnomAD
rs780752179	p.Arg147Lys	missense variant	-	NC_000007.14:g.27101417C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr148Asn	missense variant	-	NC_000007.14:g.27101414G>T	NCI-TCGA
rs757201406	p.Tyr150Ser	missense variant	-	NC_000007.14:g.27101408T>G	ExAC,gnomAD
COSM1088844	p.Glu161Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27101376C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.His163GlnPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27101364_27101368TGAAA>-	NCI-TCGA
rs762796761	p.Lys166Asn	missense variant	-	NC_000007.14:g.27101359C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg172Gln	missense variant	-	NC_000007.14:g.27101342C>T	NCI-TCGA
rs776638973	p.Val174Ala	missense variant	-	NC_000007.14:g.27101336A>G	ExAC,gnomAD
rs1259354373	p.Val174Met	missense variant	-	NC_000007.14:g.27101337C>T	TOPMed,gnomAD
rs887991299	p.Ala178Val	missense variant	-	NC_000007.14:g.27101324G>A	gnomAD
rs887991299	p.Ala178Glu	missense variant	-	NC_000007.14:g.27101324G>T	gnomAD
COSM3880387	p.Leu180Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101319G>T	NCI-TCGA Cosmic
rs1354949263	p.Asp181His	missense variant	-	NC_000007.14:g.27101316C>G	gnomAD
rs1379705685	p.Glu184Lys	missense variant	-	NC_000007.14:g.27101307C>T	TOPMed
rs748564970	p.Arg185Lys	missense variant	-	NC_000007.14:g.27101303C>T	ExAC,gnomAD
rs748564970	p.Arg185Thr	missense variant	-	NC_000007.14:g.27101303C>G	ExAC,gnomAD
rs119489104	p.Gln186Lys	missense variant	-	NC_000007.14:g.27101301G>T	-
RCV000005738	p.Gln186Lys	missense variant	Microtia, hearing impairment, and cleft palate	NC_000007.14:g.27101301G>T	ClinVar
NCI-TCGA novel	p.Val187SerPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27101299_27101300insC	NCI-TCGA
COSM6109647	p.Arg195Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101272C>A	NCI-TCGA Cosmic
rs1386978097	p.Arg195Lys	missense variant	-	NC_000007.14:g.27101273C>T	gnomAD
rs558922282	p.His198Gln	missense variant	-	NC_000007.14:g.27101263G>C	1000Genomes,ExAC,gnomAD
rs780582283	p.Arg200Thr	missense variant	-	NC_000007.14:g.27101258C>G	ExAC,gnomAD
rs756721464	p.Gln201Arg	missense variant	-	NC_000007.14:g.27101255T>C	ExAC,gnomAD
rs1474003389	p.Thr202Ser	missense variant	-	NC_000007.14:g.27101253T>A	gnomAD
rs61740490	p.Gln203His	missense variant	-	NC_000007.14:g.27101248C>A	gnomAD
rs758386563	p.Gln203Leu	missense variant	-	NC_000007.14:g.27101249T>A	ExAC,TOPMed,gnomAD
rs758386563	p.Gln203Arg	missense variant	-	NC_000007.14:g.27101249T>C	ExAC,TOPMed,gnomAD
rs752578788	p.Cys204Arg	missense variant	-	NC_000007.14:g.27101247A>G	ExAC,gnomAD
rs1370379867	p.Lys205Gln	missense variant	-	NC_000007.14:g.27101244T>G	TOPMed
rs765075132	p.Gln208Arg	missense variant	-	NC_000007.14:g.27101234T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser210Ile	missense variant	-	NC_000007.14:g.27101228C>A	NCI-TCGA
rs377466867	p.Ser210Arg	missense variant	-	NC_000007.14:g.27101227G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu211Lys	missense variant	-	NC_000007.14:g.27101226C>T	NCI-TCGA
rs1051989126	p.Gly212Arg	missense variant	-	NC_000007.14:g.27101223C>T	TOPMed,gnomAD
rs1051989126	p.Gly212Trp	missense variant	-	NC_000007.14:g.27101223C>A	TOPMed,gnomAD
rs1051989126	p.Gly212Arg	missense variant	-	NC_000007.14:g.27101223C>G	TOPMed,gnomAD
rs1324759364	p.Lys215Glu	missense variant	-	NC_000007.14:g.27101214T>C	TOPMed,gnomAD
rs1478280686	p.Leu217Phe	missense variant	-	NC_000007.14:g.27101208G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp219Val	missense variant	-	NC_000007.14:g.27101201T>A	NCI-TCGA
rs146316132	p.Asp219Tyr	missense variant	-	NC_000007.14:g.27101202C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772611071	p.Ser220Cys	missense variant	-	NC_000007.14:g.27101198G>C	ExAC,TOPMed
rs968963087	p.Glu221Lys	missense variant	-	NC_000007.14:g.27101196C>T	TOPMed,gnomAD
rs1434117320	p.Val223Ile	missense variant	-	NC_000007.14:g.27101190C>T	TOPMed
rs1181457483	p.Glu224Asp	missense variant	-	NC_000007.14:g.27101185C>G	TOPMed
rs1554334301	p.Glu224Ter	stop gained	-	NC_000007.14:g.27101187C>A	-
RCV000625727	p.Glu224Ter	nonsense	MICROTIA WITHOUT HEARING IMPAIRMENT	NC_000007.14:g.27101187C>A	ClinVar
rs1196981754	p.Glu225Lys	missense variant	-	NC_000007.14:g.27101184C>T	gnomAD
rs373239286	p.Glu225Asp	missense variant	-	NC_000007.14:g.27101182C>G	ESP,ExAC,TOPMed,gnomAD
rs1412543101	p.Asp226Asn	missense variant	-	NC_000007.14:g.27101181C>T	gnomAD
rs201289702	p.Asp226Glu	missense variant	-	NC_000007.14:g.27101179G>C	ESP,TOPMed,gnomAD
rs769008688	p.Glu227Lys	missense variant	-	NC_000007.14:g.27101178C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu229Asp	missense variant	-	NC_000007.14:g.27101170C>G	NCI-TCGA
rs745512420	p.Glu229Lys	missense variant	-	NC_000007.14:g.27101172C>T	ExAC,TOPMed,gnomAD
rs1370827430	p.Glu229Ala	missense variant	-	NC_000007.14:g.27101171T>G	gnomAD
NCI-TCGA novel	p.Lys230Arg	missense variant	-	NC_000007.14:g.27101168T>C	NCI-TCGA
rs116885108	p.Lys230Asn	missense variant	-	NC_000007.14:g.27101167C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs991740115	p.Thr231Met	missense variant	-	NC_000007.14:g.27101165G>A	TOPMed
rs959149385	p.Leu232Val	missense variant	-	NC_000007.14:g.27101163G>C	TOPMed
rs959149385	p.Leu232Phe	missense variant	-	NC_000007.14:g.27101163G>A	TOPMed
rs777386300	p.Leu232Arg	missense variant	-	NC_000007.14:g.27101162A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu234Asp	missense variant	-	NC_000007.14:g.27101155C>G	NCI-TCGA
rs398122360	p.Gln235Ter	stop gained	-	NC_000007.14:g.27101154G>A	-
RCV000074433	p.Gln235Ter	nonsense	Microtia with or without hearing impairment	NC_000007.14:g.27101154G>A	ClinVar
rs372854321	p.Ala236Thr	missense variant	-	NC_000007.14:g.27101151C>T	ESP,ExAC,gnomAD
rs1337585708	p.Ser238Gly	missense variant	-	NC_000007.14:g.27101145T>C	TOPMed,gnomAD
rs754731827	p.Val239Ile	missense variant	-	NC_000007.14:g.27101142C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly241Val	missense variant	-	NC_000007.14:g.27101135C>A	NCI-TCGA
rs1230123826	p.Gly241Glu	missense variant	-	NC_000007.14:g.27101135C>T	TOPMed
COSM1698451	p.Ala242Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101133C>T	NCI-TCGA Cosmic
COSM1088843	p.Glu245Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27101124C>A	NCI-TCGA Cosmic
rs1487107278	p.Arg246Lys	missense variant	-	NC_000007.14:g.27101120C>T	TOPMed,gnomAD
rs1327684997	p.Arg246Gly	missense variant	-	NC_000007.14:g.27101121T>C	gnomAD
rs1327684997	p.Arg246Trp	missense variant	-	NC_000007.14:g.27101121T>A	gnomAD
rs951464048	p.Gly248Ser	missense variant	-	NC_000007.14:g.27101115C>T	TOPMed
rs766677700	p.Thr250Ile	missense variant	-	NC_000007.14:g.27101108G>A	ExAC,TOPMed,gnomAD
rs756301122	p.Gln252Arg	missense variant	-	NC_000007.14:g.27101102T>C	ExAC,gnomAD
rs1488570202	p.Gln253Ter	stop gained	-	NC_000007.14:g.27101100G>A	TOPMed
rs767574059	p.Asn254Lys	missense variant	-	NC_000007.14:g.27101095A>C	ExAC,gnomAD
rs750572076	p.Asn254Asp	missense variant	-	NC_000007.14:g.27101097T>C	ExAC,gnomAD
rs995483551	p.Ala255Val	missense variant	-	NC_000007.14:g.27101093G>A	TOPMed
rs1167364164	p.Leu256Phe	missense variant	-	NC_000007.14:g.27101091G>A	gnomAD
rs774856311	p.Ser257Phe	missense variant	-	NC_000007.14:g.27101087G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln258AlaPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27101085_27101086GA>-	NCI-TCGA
rs1397361565	p.Gln258Glu	missense variant	-	NC_000007.14:g.27101085G>C	gnomAD
rs764398309	p.Gln260Glu	missense variant	-	NC_000007.14:g.27101079G>C	ExAC,TOPMed,gnomAD
rs1183514519	p.Ala261Asp	missense variant	-	NC_000007.14:g.27101075G>T	TOPMed
rs1477941332	p.Pro262Ser	missense variant	-	NC_000007.14:g.27101073G>A	gnomAD
rs1233794937	p.Pro262His	missense variant	-	NC_000007.14:g.27101072G>T	TOPMed,gnomAD
rs1233794937	p.Pro262Leu	missense variant	-	NC_000007.14:g.27101072G>A	TOPMed,gnomAD
rs775695374	p.Asn263Ser	missense variant	-	NC_000007.14:g.27101069T>C	ExAC,TOPMed,gnomAD
rs763328645	p.Asn263Asp	missense variant	-	NC_000007.14:g.27101070T>C	ExAC,TOPMed,gnomAD
COSM4799422	p.Gly264Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27101067C>A	NCI-TCGA Cosmic
rs746654616	p.Gly264Ala	missense variant	-	NC_000007.14:g.27101066C>G	ExAC,gnomAD
rs770656809	p.Gly264Arg	missense variant	-	NC_000007.14:g.27101067C>T	ExAC,gnomAD
rs1217392218	p.Asn266Ser	missense variant	-	NC_000007.14:g.27101060T>C	TOPMed,gnomAD
rs1217392218	p.Asn266Thr	missense variant	-	NC_000007.14:g.27101060T>G	TOPMed,gnomAD
rs1007473608	p.Asn266His	missense variant	-	NC_000007.14:g.27101061T>G	TOPMed,gnomAD
rs369339593	p.Gly267Ser	missense variant	-	NC_000007.14:g.27101058C>T	ESP,ExAC,gnomAD
rs777922171	p.Asp268His	missense variant	-	NC_000007.14:g.27101055C>G	ExAC,TOPMed,gnomAD
rs777922171	p.Asp268Asn	missense variant	-	NC_000007.14:g.27101055C>T	ExAC,TOPMed,gnomAD
rs150696747	p.Ser269Phe	missense variant	-	NC_000007.14:g.27101051G>A	ESP,ExAC,TOPMed,gnomAD
rs1172371479	p.Gln270His	missense variant	-	NC_000007.14:g.27101047T>G	gnomAD
rs750588587	p.Gln270Arg	missense variant	-	NC_000007.14:g.27101048T>C	ExAC,TOPMed,gnomAD
rs138479880	p.Phe272Val	missense variant	-	NC_000007.14:g.27101043A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1272110796	p.Val274Leu	missense variant	-	NC_000007.14:g.27101037C>G	TOPMed
rs752029685	p.Ser275Leu	missense variant	-	NC_000007.14:g.27101033G>A	ExAC,TOPMed,gnomAD
rs752029685	p.Ser275Trp	missense variant	-	NC_000007.14:g.27101033G>C	ExAC,TOPMed,gnomAD
rs1401386559	p.Leu277Ser	missense variant	-	NC_000007.14:g.27101027A>G	gnomAD
COSM382455	p.Thr278Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101024G>A	NCI-TCGA Cosmic
rs574589154	p.Ser279Arg	missense variant	-	NC_000007.14:g.27101020G>T	1000Genomes,ExAC,gnomAD
rs775989325	p.Lys282Thr	missense variant	-	NC_000007.14:g.27101012T>G	ExAC,TOPMed,gnomAD
rs1278253439	p.Leu284Met	missense variant	-	NC_000007.14:g.27101007G>T	gnomAD
NCI-TCGA novel	p.Gln288Ter	stop gained	-	NC_000007.14:g.27100995G>A	NCI-TCGA
rs548042970	p.Gln288Glu	missense variant	-	NC_000007.14:g.27100995G>C	TOPMed,gnomAD
rs760415353	p.His289Asp	missense variant	-	NC_000007.14:g.27100992G>C	ExAC,TOPMed,gnomAD
rs772929568	p.His289Gln	missense variant	-	NC_000007.14:g.27100990G>T	ExAC,TOPMed,gnomAD
rs760415353	p.His289Tyr	missense variant	-	NC_000007.14:g.27100992G>A	ExAC,TOPMed,gnomAD
COSM6109649	p.Pro292Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100983G>T	NCI-TCGA Cosmic
rs754800647	p.Thr293Pro	missense variant	-	NC_000007.14:g.27100980T>G	ExAC,TOPMed,gnomAD
COSM3637711	p.Pro295Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100974G>A	NCI-TCGA Cosmic
rs773707108	p.Pro295Ala	missense variant	-	NC_000007.14:g.27100974G>C	ExAC,gnomAD
rs779915182	p.Ser299Ter	stop gained	-	NC_000007.14:g.27100961G>T	ExAC,gnomAD
rs749172390	p.Ser299Thr	missense variant	-	NC_000007.14:g.27100962A>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr300Pro	missense variant	-	NC_000007.14:g.27100959T>G	NCI-TCGA
NCI-TCGA novel	p.Thr300Lys	missense variant	-	NC_000007.14:g.27100958G>T	NCI-TCGA
rs769513127	p.Met301Val	missense variant	-	NC_000007.14:g.27100956T>C	ExAC,gnomAD
rs1346244886	p.Gly302Ala	missense variant	-	NC_000007.14:g.27100952C>G	TOPMed,gnomAD
rs1346244886	p.Gly302Asp	missense variant	-	NC_000007.14:g.27100952C>T	TOPMed,gnomAD
rs746122207	p.Gln303His	missense variant	-	NC_000007.14:g.27100948C>G	ExAC,gnomAD
rs781343234	p.Asn304Asp	missense variant	-	NC_000007.14:g.27100947T>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys305Ser	missense variant	-	NC_000007.14:g.27100944A>T	NCI-TCGA
rs1165984540	p.Gly308Ala	missense variant	-	NC_000007.14:g.27100934C>G	gnomAD
rs1165984540	p.Gly308Asp	missense variant	-	NC_000007.14:g.27100934C>T	gnomAD
COSM485241	p.Asp312Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100923C>T	NCI-TCGA Cosmic
COSM1088842	p.Pro314His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100916G>T	NCI-TCGA Cosmic
rs759000598	p.Pro314Leu	missense variant	-	NC_000007.14:g.27100916G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala316Gly	missense variant	-	NC_000007.14:g.27100910G>C	NCI-TCGA
rs753086181	p.Ala316Val	missense variant	-	NC_000007.14:g.27100910G>A	ExAC,TOPMed,gnomAD
rs1227116921	p.Leu317Phe	missense variant	-	NC_000007.14:g.27100908G>A	TOPMed
NCI-TCGA novel	p.Glu318Lys	missense variant	-	NC_000007.14:g.27100905C>T	NCI-TCGA
rs765698807	p.Glu318Gln	missense variant	-	NC_000007.14:g.27100905C>G	ExAC,gnomAD
rs1201029200	p.Pro320Leu	missense variant	-	NC_000007.14:g.27100898G>A	gnomAD
rs534893580	p.Pro320Thr	missense variant	-	NC_000007.14:g.27100899G>T	1000Genomes,ExAC,gnomAD
COSM461611	p.Ser321Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100895G>C	NCI-TCGA Cosmic
rs761372083	p.Ser321Pro	missense variant	-	NC_000007.14:g.27100896A>G	ExAC
rs1309966489	p.Ser321Phe	missense variant	-	NC_000007.14:g.27100895G>A	gnomAD
rs1394875824	p.Leu322Phe	missense variant	-	NC_000007.14:g.27100891C>A	gnomAD
NCI-TCGA novel	p.Gln323Pro	missense variant	-	NC_000007.14:g.27100889T>G	NCI-TCGA
rs138940688	p.Gln323Ter	stop gained	-	NC_000007.14:g.27100890G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs138940688	p.Gln323Lys	missense variant	-	NC_000007.14:g.27100890G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp324Gly	missense variant	-	NC_000007.14:g.27100886T>C	NCI-TCGA
rs1433498931	p.Asp324Val	missense variant	-	NC_000007.14:g.27100886T>A	gnomAD
rs767995264	p.Asp324Asn	missense variant	-	NC_000007.14:g.27100887C>T	ExAC,TOPMed,gnomAD
rs143043350	p.Val327Ile	missense variant	-	NC_000007.14:g.27100878C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143043350	p.Val327Phe	missense variant	-	NC_000007.14:g.27100878C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe328SerPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27100874A>-	NCI-TCGA
rs1238618472	p.Phe328Ser	missense variant	-	NC_000007.14:g.27100874A>G	TOPMed
NCI-TCGA novel	p.Thr330ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27100867_27100868TG>-	NCI-TCGA
rs780934791	p.Thr330Ile	missense variant	-	NC_000007.14:g.27100868G>A	ExAC,TOPMed,gnomAD
rs745712033	p.Thr330Ala	missense variant	-	NC_000007.14:g.27100869T>C	ExAC,TOPMed,gnomAD
rs539038264	p.Ser332Tyr	missense variant	-	NC_000007.14:g.27100862G>T	ExAC,gnomAD
rs539038264	p.Ser332Cys	missense variant	-	NC_000007.14:g.27100862G>C	ExAC,gnomAD
rs539038264	p.Ser332Phe	missense variant	-	NC_000007.14:g.27100862G>A	ExAC,gnomAD
COSM1312996	p.Cys333Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100859C>T	NCI-TCGA Cosmic
rs1249997918	p.Cys333Gly	missense variant	-	NC_000007.14:g.27100860A>C	TOPMed
rs777919936	p.Leu334Val	missense variant	-	NC_000007.14:g.27100857G>C	ExAC,gnomAD
rs1421717562	p.Gln335Ter	stop gained	-	NC_000007.14:g.27100854G>A	gnomAD
rs149108490	p.Leu336Val	missense variant	-	NC_000007.14:g.27100851G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149108490	p.Leu336Ile	missense variant	-	NC_000007.14:g.27100851G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758080122	p.Ser337Ter	stop gained	-	NC_000007.14:g.27100847G>T	ExAC,gnomAD
rs758080122	p.Ser337Leu	missense variant	-	NC_000007.14:g.27100847G>A	ExAC,gnomAD
rs755516097	p.Ser337Thr	missense variant	-	NC_000007.14:g.27100848A>T	ExAC,TOPMed,gnomAD
rs201504673	p.Asp338His	missense variant	-	NC_000007.14:g.27100845C>G	1000Genomes,ExAC,gnomAD
rs1333454997	p.Asp338Ala	missense variant	-	NC_000007.14:g.27100844T>G	gnomAD
rs368004094	p.Pro342Leu	missense variant	-	NC_000007.14:g.27100832G>A	ESP,ExAC,TOPMed,gnomAD
COSM1088841	p.Ser343Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100829C>T	NCI-TCGA Cosmic
rs1243596184	p.Leu344Ser	missense variant	-	NC_000007.14:g.27100826A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro345Gln	missense variant	-	NC_000007.14:g.27100823G>T	NCI-TCGA
NCI-TCGA novel	p.Leu348Val	missense variant	-	NC_000007.14:g.27100815G>C	NCI-TCGA
COSM3637709	p.Asp349Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100812C>T	NCI-TCGA Cosmic
rs1317894094	p.Asp349Tyr	missense variant	-	NC_000007.14:g.27100812C>A	TOPMed
NCI-TCGA novel	p.Ser350Arg	missense variant	-	NC_000007.14:g.27100807A>C	NCI-TCGA
NCI-TCGA novel	p.Ser350Asn	missense variant	-	NC_000007.14:g.27100808C>T	NCI-TCGA
rs1365032570	p.Pro351Leu	missense variant	-	NC_000007.14:g.27100805G>A	gnomAD
rs1226879236	p.Pro351Thr	missense variant	-	NC_000007.14:g.27100806G>T	gnomAD
rs1365032570	p.Pro351His	missense variant	-	NC_000007.14:g.27100805G>T	gnomAD
rs762322767	p.Val352Ile	missense variant	-	NC_000007.14:g.27100803C>T	ExAC,TOPMed,gnomAD
COSM1088840	p.Asp353Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100800C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp353Asn	missense variant	-	NC_000007.14:g.27100800C>T	NCI-TCGA
rs1273927509	p.Ile354Thr	missense variant	-	NC_000007.14:g.27100796A>G	TOPMed
rs186108631	p.Ala356Thr	missense variant	-	NC_000007.14:g.27100791C>T	1000Genomes,ESP,ExAC,gnomAD
rs1365915815	p.Ala356Val	missense variant	-	NC_000007.14:g.27100790G>A	TOPMed
rs776467342	p.Asp357Val	missense variant	-	NC_000007.14:g.27100787T>A	ExAC,TOPMed,gnomAD
COSM74938	p.Ser358Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100785T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser358Ile	missense variant	-	NC_000007.14:g.27100784C>A	NCI-TCGA
NCI-TCGA novel	p.Asp360Asn	missense variant	-	NC_000007.14:g.27100779C>T	NCI-TCGA
NCI-TCGA novel	p.Asp360Tyr	missense variant	-	NC_000007.14:g.27100779C>A	NCI-TCGA
rs770572625	p.Phe361Tyr	missense variant	-	NC_000007.14:g.27100775A>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe362LeuPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27100771A>-	NCI-TCGA
rs1447596337	p.Phe362Val	missense variant	-	NC_000007.14:g.27100773A>C	gnomAD
rs1447596337	p.Phe362Leu	missense variant	-	NC_000007.14:g.27100773A>G	gnomAD
NCI-TCGA novel	p.Thr363TyrPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27100770_27100771insA	NCI-TCGA
rs1279793468	p.Thr363Ala	missense variant	-	NC_000007.14:g.27100770T>C	TOPMed
rs1194180092	p.Asp364Asn	missense variant	-	NC_000007.14:g.27100767C>T	gnomAD
NCI-TCGA novel	p.Thr365Ile	missense variant	-	NC_000007.14:g.27100763G>A	NCI-TCGA
rs747258766	p.Thr367Ser	missense variant	-	NC_000007.14:g.27100758T>A	ExAC,gnomAD
rs1264975448	p.Thr367Asn	missense variant	-	NC_000007.14:g.27100757G>T	gnomAD
rs911168146	p.Ile369Val	missense variant	-	NC_000007.14:g.27100752T>C	TOPMed
rs772212707	p.Asp370Asn	missense variant	-	NC_000007.14:g.27100749C>T	ExAC,gnomAD
rs779101719	p.Leu371Phe	missense variant	-	NC_000007.14:g.27100744C>G	ExAC,gnomAD
COSM3637708	p.Gln372Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27100743G>A	NCI-TCGA Cosmic
rs1304883436	p.Gln372Arg	missense variant	-	NC_000007.14:g.27100742T>C	gnomAD
rs1237118318	p.Leu374Pro	missense variant	-	NC_000007.14:g.27100736A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0007137	Squamous cell carcinoma	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	CTD_human
C0038356	Stomach Neoplasms	group	CTD_human
C0152423	Congenital small ears	disease	BEFREE;HPO;ORPHANET
C0155552	Hearing Loss, Mixed Conductive-Sensorineural	disease	HPO
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C2676772	Microtia, Hearing Impairment, And Cleft Palate	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C2981150	Uranostaphyloschisis	disease	HPO
C3808166	MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT	disease	CLINVAR;UNIPROT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003700	DNA-binding transcription factor activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001709	cell fate determination	IEA
GO:0002076	osteoblast development	IEA
GO:0007379	segment specification	IEA
GO:0008045	motor neuron axon guidance	IEA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0009953	dorsal/ventral pattern formation	IEA
GO:0021568	rhombomere 2 development	IEA
GO:0021658	rhombomere 3 morphogenesis	IEA
GO:0035284	brain segmentation	IEA
GO:0042474	middle ear morphogenesis	IEA
GO:0045665	negative regulation of neuron differentiation	IEA
GO:0045668	negative regulation of osteoblast differentiation	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0048703	embryonic viscerocranium morphogenesis	IEA
GO:0071300	cellular response to retinoic acid	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0043231	intracellular membrane-bounded organelle	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	IEA
R-HSA-376176	Signaling by ROBO receptors	IEA
R-HSA-422475	Axon guidance	IEA
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis	IEA
R-HSA-5619507	Activation of HOX genes during differentiation	IEA
R-HSA-9010553	Regulation of expression of SLITs and ROBOs	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of HOXA2 mRNA	19933214
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of HOXA2 mRNA	19114083
D020106	Acrylamide	Acrylamide results in decreased expression of HOXA2 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of HOXA2 gene	27153756
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of HOXA2 mRNA	21757418
D000499	Allylamine	Allylamine affects the expression of HOXA2 mRNA	15910882
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of HOXA2 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of HOXA2 mRNA	26705709
D001205	Ascorbic Acid	Ascorbic Acid inhibits the reaction [Valproic Acid results in decreased expression of HOXA2 mRNA]	19655241
C006780	bisphenol A	bisphenol A affects the methylation of HOXA2 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of HOXA2 mRNA	22687993; 30951980;
C006780	bisphenol A	[bisphenol A co-treated with tributyltin] results in decreased expression of HOXA2 mRNA	31129395
C006780	bisphenol A	bisphenol A results in decreased expression of HOXA2 mRNA	25181051
D002101	Cacodylic Acid	Cacodylic Acid results in decreased expression of HOXA2 mRNA	16122865
D002737	Chloroprene	Chloroprene results in decreased expression of HOXA2 mRNA	23125180
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of HOXA2 mRNA	27392435
D003561	Cytarabine	Cytarabine results in increased expression of HOXA2 mRNA	21198554
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of HOXA2 mRNA	31163220
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of HOXA2 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HOXA2 mRNA	17942748
D005419	Flavonoids	Flavonoids results in increased expression of HOXA2 mRNA	18035473
D004397	Fonofos	Fonofos results in increased methylation of HOXA2 promoter	22847954
C039281	furan	furan results in decreased methylation of HOXA2 gene	27387713
C039281	furan	furan results in increased expression of HOXA2 mRNA	27387713
D005947	Glucose	Glucose results in increased expression of HOXA2 mRNA	21818840
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of HOXA2 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of HOXA2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of HOXA2 mRNA	25307878
D008767	Methylmercury Compounds	[Methylmercury Compounds co-treated with Polychlorinated Biphenyls] results in increased expression of HOXA2 mRNA	20020106
D009151	Mustard Gas	Mustard Gas results in decreased expression of HOXA2 mRNA	15674843
D009532	Nickel	Nickel results in decreased expression of HOXA2 mRNA	24768652; 25583101;
C029938	nickel sulfate	nickel sulfate results in increased expression of HOXA2 mRNA	22714537
C016340	o,p'-DDT	o,p'-DDT results in increased expression of HOXA2 mRNA	20686349
D010278	Parathion	Parathion results in increased methylation of HOXA2 promoter	22847954
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid affects the expression of HOXA2 mRNA	30738844
D010672	Phenytoin	Phenytoin results in decreased expression of HOXA2 mRNA	10789828
D010672	Phenytoin	Phenytoin results in decreased expression of HOXA2 protein	10789828
D011078	Polychlorinated Biphenyls	[Methylmercury Compounds co-treated with Polychlorinated Biphenyls] results in increased expression of HOXA2 mRNA	20020106
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of HOXA2 mRNA	22698814
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of HOXA2 mRNA	25895662
D013605	T-2 Toxin	T-2 Toxin results in increased expression of HOXA2 mRNA	31299295
C012568	terbufos	terbufos results in increased methylation of HOXA2 promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of HOXA2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HOXA2 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of HOXA2 mRNA	19897914
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of HOXA2 mRNA	19933214; 24058054;
C009495	titanium dioxide	titanium dioxide results in decreased expression of HOXA2 mRNA	23409001; 29264374;
D014212	Tretinoin	Tretinoin results in increased expression of HOXA2 mRNA	17185360; 21934132;
C032910	triadimefon	triadimefon affects the expression of HOXA2 mRNA	16875885
C011559	tributyltin	[bisphenol A co-treated with tributyltin] results in decreased expression of HOXA2 mRNA	31129395
C012589	trichostatin A	trichostatin A results in decreased expression of HOXA2 mRNA	15901671
D014260	Triclosan	Triclosan results in increased expression of HOXA2 mRNA	30510588
D000077288	Troglitazone	Troglitazone results in decreased expression of HOXA2 mRNA	19140230
D014635	Valproic Acid	Ascorbic Acid inhibits the reaction [Valproic Acid results in decreased expression of HOXA2 mRNA]	19655241
D014635	Valproic Acid	Valproic Acid results in decreased expression of HOXA2 mRNA	19655241
D014635	Valproic Acid	Valproic Acid results in decreased expression of HOXA2 protein	19655241
D014635	Valproic Acid	Valproic Acid results in increased expression of HOXA2 mRNA	24896083
D014635	Valproic Acid	Valproic Acid results in decreased expression of HOXA2 mRNA	15901671
D014638	Vanadates	Vanadates results in decreased expression of HOXA2 mRNA	22714537

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR001827	Homeobox_Antennapedia_CS
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR020479	Homeobox_metazoa

PROSITE

PROSITE ID	PROSITE Term
PS00032	ANTENNAPEDIA
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: HOXA2

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