CleftGeneDB-Search

Gene: VAX2

Basic information

Tag	Content
Uniprot ID	Q9UIW0; Q53Y33;
Entrez ID	25806
Genbank protein ID	AAH06336.1; EAW99792.1; AAP35683.1; CAB56166.1;
Genbank nucleotide ID	NM_012476.2
Ensembl protein ID	ENSP00000234392
Ensembl nucleotide ID	ENSG00000116035
Gene name	Ventral anterior homeobox 2
Gene symbol	VAX2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	16953426
Functional description	Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina.
Sequence	MGDGGAERDR GPARRAESGG GGGRCGDRSG AGDLRADGGG HSPTEVAGTS ASSPAGSRES 60 GADSDGQPGP GEADHCRRIL VRDAKGTIRE IVLPKGLDLD RPKRTRTSFT AEQLYRLEME 120 FQRCQYVVGR ERTELARQLN LSETQVKVWF QNRRTKQKKD QSRDLEKRAS SSASEAFATS 180 NILRLLEQGR LLSVPRAPSL LALTPSLPGL PASHRGTSLG DPRNSSPRLN PLSSASASPP 240 LPPPLPAVCF SSAPLLDLPA GYELGSSAFE PYSWLERKVG SASSCKKANT

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	VAX2	539808	E1BBM6		Bos taurus	Prediction	More>>
1:1 ortholog	VAX2	102188324	A0A452E6B0		Capra hircus	Prediction	More>>
1:1 ortholog	VAX2	25806	Q9UIW0		Homo sapiens	Publication	More>>
1:1 ortholog	Vax2	24113	Q9WTP9	CPO	Mus musculus	Publication	More>>
1:1 ortholog	VAX2		A0A2I3SNN0		Pan troglodytes	Prediction	More>>
1:1 ortholog	VAX2		F1SLE1		Sus scrofa	Prediction	More>>
1:1 ortholog	Vax2		G3V7R0		Rattus norvegicus	Prediction	More>>
1:1 ortholog	vax2	373869	Q801E1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1258557784	p.Asp3Tyr	missense variant	-	NC_000002.12:g.70900628G>T	TOPMed
rs1215214688	p.Gly5Asp	missense variant	-	NC_000002.12:g.70900635G>A	TOPMed
rs1335227812	p.Ala6Ser	missense variant	-	NC_000002.12:g.70900637G>T	TOPMed
rs1328133234	p.Arg8His	missense variant	-	NC_000002.12:g.70900644G>A	TOPMed,gnomAD
rs1382870356	p.Asp9Tyr	missense variant	-	NC_000002.12:g.70900646G>T	TOPMed,gnomAD
rs1382870356	p.Asp9Asn	missense variant	-	NC_000002.12:g.70900646G>A	TOPMed,gnomAD
rs1361421232	p.Arg10Trp	missense variant	-	NC_000002.12:g.70900649C>T	TOPMed,gnomAD
rs991052057	p.Arg10Pro	missense variant	-	NC_000002.12:g.70900650G>C	TOPMed,gnomAD
rs1395658949	p.Ala13Thr	missense variant	-	NC_000002.12:g.70900658G>A	TOPMed,gnomAD
rs1553409566	p.Ala13Val	missense variant	-	NC_000002.12:g.70900659C>T	gnomAD
rs1395658949	p.Ala13Pro	missense variant	-	NC_000002.12:g.70900658G>C	TOPMed,gnomAD
rs782624569	p.Arg14His	missense variant	-	NC_000002.12:g.70900662G>A	ExAC,TOPMed,gnomAD
rs782624569	p.Arg14Leu	missense variant	-	NC_000002.12:g.70900662G>T	ExAC,TOPMed,gnomAD
rs1553409568	p.Arg14Cys	missense variant	-	NC_000002.12:g.70900661C>T	gnomAD
rs557087460	p.Arg15Gln	missense variant	-	NC_000002.12:g.70900665G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1427372555	p.Ala16Glu	missense variant	-	NC_000002.12:g.70900668C>A	TOPMed
rs1195096721	p.Glu17Lys	missense variant	-	NC_000002.12:g.70900670G>A	TOPMed
rs1252073527	p.Gly19Asp	missense variant	-	NC_000002.12:g.70900677G>A	TOPMed
rs61275549	p.Gly19Ser	missense variant	-	NC_000002.12:g.70900676G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1207872757	p.Gly21Ser	missense variant	-	NC_000002.12:g.70900682G>A	TOPMed
rs1553409582	p.Gly22Ser	missense variant	-	NC_000002.12:g.70900685G>A	gnomAD
rs1553409588	p.Arg24His	missense variant	-	NC_000002.12:g.70900692G>A	gnomAD
rs2234496	p.Arg24Gly	missense variant	-	NC_000002.12:g.70900691C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs2234496	p.Arg24Gly	missense variant	-	NC_000002.12:g.70900691C>G	UniProt,dbSNP
VAR_067308	p.Arg24Gly	missense variant	-	NC_000002.12:g.70900691C>G	UniProt
rs1553409590	p.Cys25Ter	stop gained	-	NC_000002.12:g.70900696C>A	gnomAD
rs1553409591	p.Gly26Glu	missense variant	-	NC_000002.12:g.70900698G>A	gnomAD
rs1553409591	p.Gly26Ala	missense variant	-	NC_000002.12:g.70900698G>C	gnomAD
rs557962817	p.Gly26Arg	missense variant	-	NC_000002.12:g.70900697G>A	1000Genomes,ExAC,gnomAD
rs1007768492	p.Asp27Glu	missense variant	-	NC_000002.12:g.70900702C>G	gnomAD
rs1251795710	p.Arg28Gly	missense variant	-	NC_000002.12:g.70900703C>G	TOPMed
rs1553409596	p.Ala31Glu	missense variant	-	NC_000002.12:g.70900713C>A	gnomAD
rs1553409596	p.Ala31Gly	missense variant	-	NC_000002.12:g.70900713C>G	gnomAD
rs1306988575	p.Gly32Glu	missense variant	-	NC_000002.12:g.70900716G>A	TOPMed
rs1236703090	p.Asp33Asn	missense variant	-	NC_000002.12:g.70900718G>A	TOPMed,gnomAD
rs782084499	p.Arg35Gln	missense variant	-	NC_000002.12:g.70900725G>A	ExAC,gnomAD
rs1325605951	p.Ala36Thr	missense variant	-	NC_000002.12:g.70900727G>A	TOPMed,gnomAD
rs782357944	p.Gly39Ser	missense variant	-	NC_000002.12:g.70900736G>A	ExAC,TOPMed,gnomAD
rs1299236306	p.Gly40Asp	missense variant	-	NC_000002.12:g.70900740G>A	TOPMed
rs1461971013	p.Thr44Ala	missense variant	-	NC_000002.12:g.70900751A>G	TOPMed,gnomAD
rs966757865	p.Thr44Lys	missense variant	-	NC_000002.12:g.70900752C>A	gnomAD
rs966757865	p.Thr44Met	missense variant	-	NC_000002.12:g.70900752C>T	gnomAD
rs200413581	p.Val46Met	missense variant	-	NC_000002.12:g.70900757G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs61753452	p.Ala47Val	missense variant	-	NC_000002.12:g.70900761C>T	gnomAD
rs540538576	p.Ala47Ser	missense variant	-	NC_000002.12:g.70900760G>T	1000Genomes,gnomAD
rs540538576	p.Ala47Pro	missense variant	-	NC_000002.12:g.70900760G>C	1000Genomes,gnomAD
rs61753452	p.Ala47Gly	missense variant	-	NC_000002.12:g.70900761C>G	gnomAD
rs1032294407	p.Thr49Ile	missense variant	-	NC_000002.12:g.70900767C>T	TOPMed,gnomAD
rs1032294407	p.Thr49Ser	missense variant	-	NC_000002.12:g.70900767C>G	TOPMed,gnomAD
rs1553409622	p.Ser50Leu	missense variant	-	NC_000002.12:g.70900770C>T	TOPMed
rs1553409624	p.Ala51Thr	missense variant	-	NC_000002.12:g.70900772G>A	gnomAD
rs1553409629	p.Pro54Ala	missense variant	-	NC_000002.12:g.70900781C>G	gnomAD
rs959555383	p.Pro54Leu	missense variant	-	NC_000002.12:g.70900782C>T	TOPMed
rs782621957	p.Ala55Ser	missense variant	-	NC_000002.12:g.70900784G>T	TOPMed,gnomAD
rs1272490436	p.Ala55Val	missense variant	-	NC_000002.12:g.70900785C>T	TOPMed
rs1348746656	p.Arg58Ser	missense variant	-	NC_000002.12:g.70900795G>T	TOPMed,gnomAD
rs1553409638	p.Arg58Gly	missense variant	-	NC_000002.12:g.70900793A>G	gnomAD
rs782152782	p.Ser60Arg	missense variant	-	NC_000002.12:g.70900801T>A	ExAC,TOPMed,gnomAD
rs1231422196	p.Ser60Asn	missense variant	-	NC_000002.12:g.70900800G>A	TOPMed
rs1553409648	p.Gly61Ter	stop gained	-	NC_000002.12:g.70900802G>T	gnomAD
rs970526624	p.Ala62Pro	missense variant	-	NC_000002.12:g.70900805G>C	TOPMed,gnomAD
rs970526624	p.Ala62Ser	missense variant	-	NC_000002.12:g.70900805G>T	TOPMed,gnomAD
rs1553409658	p.Asp63Gly	missense variant	-	NC_000002.12:g.70900809A>G	gnomAD
rs1553409655	p.Asp63His	missense variant	-	NC_000002.12:g.70900808G>C	gnomAD
rs1553409660	p.Asp65Asn	missense variant	-	NC_000002.12:g.70900814G>A	gnomAD
rs1374362034	p.Gly66Glu	missense variant	-	NC_000002.12:g.70900818G>A	TOPMed
rs1314127727	p.Gly66Arg	missense variant	-	NC_000002.12:g.70900817G>C	TOPMed
rs1314127727	p.Gly66Trp	missense variant	-	NC_000002.12:g.70900817G>T	TOPMed
rs1170444057	p.Gln67Arg	missense variant	-	NC_000002.12:g.70900821A>G	TOPMed,gnomAD
rs1470992228	p.Pro68Ser	missense variant	-	NC_000002.12:g.70900823C>T	TOPMed,gnomAD
rs1364104195	p.Gly69Glu	missense variant	-	NC_000002.12:g.70900827G>A	TOPMed,gnomAD
rs1180829927	p.Pro70Ser	missense variant	-	NC_000002.12:g.70900829C>T	TOPMed,gnomAD
rs1553409674	p.Pro70Leu	missense variant	-	NC_000002.12:g.70900830C>T	gnomAD
rs540096264	p.Gly71Cys	missense variant	-	NC_000002.12:g.70900832G>T	TOPMed,gnomAD
rs1486035052	p.Glu72Lys	missense variant	-	NC_000002.12:g.70900835G>A	TOPMed
rs1198884062	p.Cys76Arg	missense variant	-	NC_000002.12:g.70900847T>C	TOPMed
rs1198884062	p.Cys76Ser	missense variant	-	NC_000002.12:g.70900847T>A	TOPMed
rs1553409684	p.Arg77Cys	missense variant	-	NC_000002.12:g.70900850C>T	gnomAD
rs1228187768	p.Arg78Leu	missense variant	-	NC_000002.12:g.70900854G>T	TOPMed,gnomAD
rs1228187768	p.Arg78His	missense variant	-	NC_000002.12:g.70900854G>A	TOPMed,gnomAD
rs1553409688	p.Arg78Cys	missense variant	-	NC_000002.12:g.70900853C>T	gnomAD
rs1553409694	p.Leu80Val	missense variant	-	NC_000002.12:g.70900859C>G	gnomAD
rs1295618514	p.Arg82Pro	missense variant	-	NC_000002.12:g.70900866G>C	TOPMed
rs782819912	p.Asp83Asn	missense variant	-	NC_000002.12:g.70900868G>A	ExAC,TOPMed,gnomAD
rs1233621809	p.Thr87Lys	missense variant	-	NC_000002.12:g.70921110C>A	TOPMed,gnomAD
rs1345881416	p.Ile88Val	missense variant	-	NC_000002.12:g.70921112A>G	TOPMed
rs139950648	p.Arg89Trp	missense variant	-	NC_000002.12:g.70921115C>T	NCI-TCGA
rs782186563	p.Arg89Gln	missense variant	-	NC_000002.12:g.70921116G>A	ExAC,TOPMed,gnomAD
rs139950648	p.Arg89Trp	missense variant	-	NC_000002.12:g.70921115C>T	ESP,ExAC,TOPMed,gnomAD
rs782479662	p.Ile91Thr	missense variant	-	NC_000002.12:g.70921122T>C	ExAC,gnomAD
rs782610103	p.Val92Ile	missense variant	-	NC_000002.12:g.70921124G>A	ExAC,TOPMed,gnomAD
rs782389159	p.Gly96Ala	missense variant	-	NC_000002.12:g.70921137G>C	ExAC,gnomAD
rs1553412785	p.Gly96Cys	missense variant	-	NC_000002.12:g.70921136G>T	gnomAD
rs183938302	p.Asp98Glu	missense variant	-	NC_000002.12:g.70921144C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp100Asn	missense variant	-	NC_000002.12:g.70921148G>A	NCI-TCGA
rs145801795	p.Arg101Trp	missense variant	-	NC_000002.12:g.70921151C>T	ESP,ExAC,TOPMed,gnomAD
rs781956673	p.Arg101Gln	missense variant	-	NC_000002.12:g.70921152G>A	ExAC,TOPMed,gnomAD
rs199781570	p.Arg104Gln	missense variant	-	NC_000002.12:g.70921161G>A	ExAC,TOPMed,gnomAD
rs782781450	p.Arg104Trp	missense variant	-	NC_000002.12:g.70921160C>T	ExAC,TOPMed,gnomAD
rs782807394	p.Arg106Pro	missense variant	-	NC_000002.12:g.70921167G>C	ExAC,TOPMed,gnomAD
rs782145651	p.Arg106Cys	missense variant	-	NC_000002.12:g.70921166C>T	ExAC,TOPMed,gnomAD
rs782145651	p.Arg106Gly	missense variant	-	NC_000002.12:g.70921166C>G	ExAC,TOPMed,gnomAD
rs782807394	p.Arg106His	missense variant	-	NC_000002.12:g.70921167G>A	ExAC,TOPMed,gnomAD
rs1553412802	p.Phe109Leu	missense variant	-	NC_000002.12:g.70921175T>C	gnomAD
rs782033964	p.Glu112Lys	missense variant	-	NC_000002.12:g.70921184G>A	TOPMed,gnomAD
rs782718345	p.Gln113His	missense variant	-	NC_000002.12:g.70921189G>C	ExAC,TOPMed,gnomAD
rs782492688	p.Tyr115Cys	missense variant	-	NC_000002.12:g.70921194A>G	ExAC,gnomAD
rs782299811	p.Arg116His	missense variant	-	NC_000002.12:g.70921197G>A	ExAC,TOPMed,gnomAD
rs145436494	p.Arg116Gly	missense variant	-	NC_000002.12:g.70921196C>G	ESP,ExAC,TOPMed,gnomAD
rs782299811	p.Arg116His	missense variant	-	NC_000002.12:g.70921197G>A	NCI-TCGA
rs145436494	p.Arg116Cys	missense variant	-	NC_000002.12:g.70921196C>T	ESP,ExAC,TOPMed,gnomAD
rs782584966	p.Glu120Val	missense variant	-	NC_000002.12:g.70921209A>T	ExAC,gnomAD
rs1553412809	p.Gln122Lys	missense variant	-	NC_000002.12:g.70921214C>A	gnomAD
rs142434739	p.Arg123His	missense variant	-	NC_000002.12:g.70921218G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142434739	p.Arg123Leu	missense variant	-	NC_000002.12:g.70921218G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782217454	p.Arg123Cys	missense variant	-	NC_000002.12:g.70921217C>T	ExAC,TOPMed,gnomAD
rs782217454	p.Arg123Ser	missense variant	-	NC_000002.12:g.70921217C>A	ExAC,TOPMed,gnomAD
rs782217454	p.Arg123Gly	missense variant	-	NC_000002.12:g.70921217C>G	ExAC,TOPMed,gnomAD
rs782217454	p.Arg123Cys	missense variant	-	NC_000002.12:g.70921217C>T	NCI-TCGA
rs782217454	p.Arg123Ser	missense variant	-	NC_000002.12:g.70921217C>A	NCI-TCGA,NCI-TCGA Cosmic
rs1305179370	p.Cys124Arg	missense variant	-	NC_000002.12:g.70921220T>C	TOPMed,gnomAD
rs781991079	p.Cys124Ser	missense variant	-	NC_000002.12:g.70921221G>C	ExAC,TOPMed,gnomAD
rs782263092	p.Cys124Trp	missense variant	-	NC_000002.12:g.70921222C>G	ExAC,TOPMed,gnomAD
rs782406661	p.Tyr126Ter	stop gained	-	NC_000002.12:g.70921228T>G	ExAC,gnomAD
rs1553412816	p.Val127Ala	missense variant	-	NC_000002.12:g.70921230T>C	gnomAD
rs1553412821	p.Val128Met	missense variant	-	NC_000002.12:g.70921232G>A	gnomAD
NCI-TCGA novel	p.Gly129Asp	missense variant	-	NC_000002.12:g.70921236G>A	NCI-TCGA
rs562373113	p.Arg130Cys	missense variant	-	NC_000002.12:g.70921238C>T	ExAC,TOPMed,gnomAD
rs148304948	p.Arg130His	missense variant	-	NC_000002.12:g.70921239G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200582274	p.Glu131Lys	missense variant	-	NC_000002.12:g.70921241G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs782777246	p.Glu131Gly	missense variant	-	NC_000002.12:g.70921242A>G	ExAC,gnomAD
rs782544377	p.Arg132Leu	missense variant	-	NC_000002.12:g.70921245G>T	ExAC,TOPMed,gnomAD
rs150176075	p.Arg132Cys	missense variant	-	NC_000002.12:g.70921244C>T	ESP,ExAC,TOPMed,gnomAD
rs150176075	p.Arg132Cys	missense variant	-	NC_000002.12:g.70921244C>T	NCI-TCGA,NCI-TCGA Cosmic
rs782544377	p.Arg132His	missense variant	-	NC_000002.12:g.70921245G>A	ExAC,TOPMed,gnomAD
RCV000207416	p.Thr133Ile	missense variant	-	NC_000002.12:g.70921248C>T	ClinVar
rs869025255	p.Thr133Ile	missense variant	-	NC_000002.12:g.70921248C>T	TOPMed,gnomAD
rs141797280	p.Leu135Met	missense variant	-	NC_000002.12:g.70921253C>A	ESP,ExAC,TOPMed,gnomAD
rs137915944	p.Arg137Gly	missense variant	-	NC_000002.12:g.70921259C>G	ESP,ExAC,TOPMed,gnomAD
rs145930788	p.Arg137His	missense variant	-	NC_000002.12:g.70921260G>A	ESP,ExAC,TOPMed,gnomAD
rs137915944	p.Arg137Cys	missense variant	-	NC_000002.12:g.70921259C>T	NCI-TCGA
rs137915944	p.Arg137Cys	missense variant	-	NC_000002.12:g.70921259C>T	ESP,ExAC,TOPMed,gnomAD
rs56075602	p.Leu139Met	missense variant	-	NC_000002.12:g.70921265C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1553412834	p.Asn140Lys	missense variant	-	NC_000002.12:g.70921270C>A	gnomAD
rs375241285	p.Glu143Lys	missense variant	-	NC_000002.12:g.70921277G>A	ESP,ExAC,TOPMed,gnomAD
rs375241285	p.Glu143Gln	missense variant	-	NC_000002.12:g.70921277G>C	ESP,ExAC,TOPMed,gnomAD
rs782520076	p.Gln145Arg	missense variant	-	NC_000002.12:g.70921284A>G	ExAC,gnomAD
COSM6158618	p.Gln145Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.70921283C>T	NCI-TCGA Cosmic
rs889638318	p.Val148Ile	missense variant	-	NC_000002.12:g.70932773G>A	gnomAD
rs889638318	p.Val148Phe	missense variant	-	NC_000002.12:g.70932773G>T	gnomAD
rs1553414518	p.Gln151His	missense variant	-	NC_000002.12:g.70932784G>T	gnomAD
rs1553414517	p.Gln151Leu	missense variant	-	NC_000002.12:g.70932783A>T	gnomAD
rs1553414517	p.Gln151Arg	missense variant	-	NC_000002.12:g.70932783A>G	gnomAD
rs145503713	p.Arg153Pro	missense variant	-	NC_000002.12:g.70932789G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782124147	p.Arg153Cys	missense variant	-	NC_000002.12:g.70932788C>T	ExAC,TOPMed,gnomAD
rs145503713	p.Arg153His	missense variant	-	NC_000002.12:g.70932789G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145503713	p.Arg153Leu	missense variant	-	NC_000002.12:g.70932789G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782554103	p.Arg154Leu	missense variant	-	NC_000002.12:g.70932792G>T	ExAC,TOPMed,gnomAD
rs782569846	p.Arg154Cys	missense variant	-	NC_000002.12:g.70932791C>T	ExAC,TOPMed,gnomAD
COSM3582884	p.Arg154Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70932791C>G	NCI-TCGA Cosmic
rs782554103	p.Arg154His	missense variant	-	NC_000002.12:g.70932792G>A	ExAC,TOPMed,gnomAD
rs1450354389	p.Thr155Ile	missense variant	-	NC_000002.12:g.70932795C>T	TOPMed
rs781797098	p.Thr155Ala	missense variant	-	NC_000002.12:g.70932794A>G	ExAC,gnomAD
rs782459139	p.Lys156Met	missense variant	-	NC_000002.12:g.70932798A>T	ExAC,gnomAD
rs201302985	p.Asp160Glu	missense variant	-	NC_000002.12:g.70932811C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs782613754	p.Asp160Val	missense variant	-	NC_000002.12:g.70932810A>T	ExAC,TOPMed,gnomAD
rs782613754	p.Asp160Gly	missense variant	-	NC_000002.12:g.70932810A>G	ExAC,TOPMed,gnomAD
rs782667630	p.Gln161Lys	missense variant	-	NC_000002.12:g.70932812C>A	ExAC,gnomAD
rs1010233114	p.Gln161Arg	missense variant	-	NC_000002.12:g.70932813A>G	TOPMed
COSM1409225	p.Ser162Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70932816G>A	NCI-TCGA Cosmic
rs1160375795	p.Asp164Tyr	missense variant	-	NC_000002.12:g.70932821G>T	TOPMed,gnomAD
rs145701453	p.Leu165Pro	missense variant	-	NC_000002.12:g.70932825T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu165Gln	missense variant	-	NC_000002.12:g.70932825T>A	NCI-TCGA
NCI-TCGA novel	p.Glu166ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.70932826G>-	NCI-TCGA
NCI-TCGA novel	p.Glu166Gln	missense variant	-	NC_000002.12:g.70932827G>C	NCI-TCGA
rs368226464	p.Glu166Val	missense variant	-	NC_000002.12:g.70932828A>T	ESP,TOPMed
rs202064044	p.Arg168Trp	missense variant	-	NC_000002.12:g.70932833C>T	ExAC,TOPMed,gnomAD
rs782009506	p.Arg168Pro	missense variant	-	NC_000002.12:g.70932834G>C	ExAC,TOPMed,gnomAD
rs782009506	p.Arg168Leu	missense variant	-	NC_000002.12:g.70932834G>T	ExAC,TOPMed,gnomAD
rs202064044	p.Arg168Gly	missense variant	-	NC_000002.12:g.70932833C>G	ExAC,TOPMed,gnomAD
rs782009506	p.Arg168Gln	missense variant	-	NC_000002.12:g.70932834G>A	ExAC,TOPMed,gnomAD
rs566985371	p.Ala169Glu	missense variant	-	NC_000002.12:g.70932837C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs566985371	p.Ala169Val	missense variant	-	NC_000002.12:g.70932837C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1315031014	p.Ser172Thr	missense variant	-	NC_000002.12:g.70932845T>A	TOPMed
rs782054607	p.Ala173Asp	missense variant	-	NC_000002.12:g.70932849C>A	ExAC,TOPMed,gnomAD
rs781832386	p.Glu175Lys	missense variant	-	NC_000002.12:g.70932854G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu175Gly	missense variant	-	NC_000002.12:g.70932855A>G	NCI-TCGA
rs782501912	p.Glu175Asp	missense variant	-	NC_000002.12:g.70932856G>T	ExAC,TOPMed,gnomAD
rs782777741	p.Ile182Phe	missense variant	-	NC_000002.12:g.70932875A>T	ExAC,gnomAD
rs781890843	p.Ile182Thr	missense variant	-	NC_000002.12:g.70932876T>C	ExAC,TOPMed,gnomAD
rs782551077	p.Leu183Met	missense variant	-	NC_000002.12:g.70932878C>A	ExAC,gnomAD
rs782551077	p.Leu183Val	missense variant	-	NC_000002.12:g.70932878C>G	ExAC,gnomAD
rs1553414543	p.Leu183Pro	missense variant	-	NC_000002.12:g.70932879T>C	gnomAD
rs201863357	p.Arg184Trp	missense variant	-	NC_000002.12:g.70932881C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs782482672	p.Arg184Gln	missense variant	-	NC_000002.12:g.70932882G>A	ExAC,TOPMed,gnomAD
rs782644188	p.Glu187Gln	missense variant	-	NC_000002.12:g.70932890G>C	ExAC,TOPMed,gnomAD
rs782644188	p.Glu187Lys	missense variant	-	NC_000002.12:g.70932890G>A	ExAC,TOPMed,gnomAD
rs1445776477	p.Gly189Ser	missense variant	-	NC_000002.12:g.70932896G>A	TOPMed
rs782410771	p.Arg190Trp	missense variant	-	NC_000002.12:g.70932899C>T	ExAC,gnomAD
rs782043630	p.Arg190Gln	missense variant	-	NC_000002.12:g.70932900G>A	ExAC,TOPMed,gnomAD
rs782093774	p.Val194Glu	missense variant	-	NC_000002.12:g.70932912T>A	ExAC,gnomAD
rs1553414557	p.Arg196Lys	missense variant	-	NC_000002.12:g.70932918G>A	gnomAD
rs972351853	p.Ala197Val	missense variant	-	NC_000002.12:g.70932921C>T	gnomAD
rs782001053	p.Ala197Ser	missense variant	-	NC_000002.12:g.70932920G>T	ExAC,TOPMed,gnomAD
rs972351853	p.Ala197Asp	missense variant	-	NC_000002.12:g.70932921C>A	gnomAD
rs1553414559	p.Ser199Arg	missense variant	-	NC_000002.12:g.70932928C>A	gnomAD
NCI-TCGA novel	p.Ser199Ter	frameshift	-	NC_000002.12:g.70932920_70932921insC	NCI-TCGA
COSM1409227	p.Leu200Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70932929C>T	NCI-TCGA Cosmic
rs782811399	p.Leu201Gln	missense variant	-	NC_000002.12:g.70932933T>A	ExAC,TOPMed,gnomAD
rs782811399	p.Leu201Pro	missense variant	-	NC_000002.12:g.70932933T>C	ExAC,TOPMed,gnomAD
rs369829011	p.Ala202Val	missense variant	-	NC_000002.12:g.70932936C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369829011	p.Ala202Gly	missense variant	-	NC_000002.12:g.70932936C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369829011	p.Ala202Glu	missense variant	-	NC_000002.12:g.70932936C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1222142186	p.Thr204Ile	missense variant	-	NC_000002.12:g.70932942C>T	TOPMed,gnomAD
rs1222142186	p.Thr204Asn	missense variant	-	NC_000002.12:g.70932942C>A	TOPMed,gnomAD
rs1358648898	p.Pro205Arg	missense variant	-	NC_000002.12:g.70932945C>G	TOPMed
rs1553414566	p.Pro205Ser	missense variant	-	NC_000002.12:g.70932944C>T	gnomAD
rs1367597014	p.Ser206Ile	missense variant	-	NC_000002.12:g.70932948G>T	TOPMed
rs1296617185	p.Ser206Arg	missense variant	-	NC_000002.12:g.70932949C>A	TOPMed
rs375782827	p.Leu207Pro	missense variant	-	NC_000002.12:g.70932951T>C	gnomAD
rs143185254	p.Pro208Ser	missense variant	-	NC_000002.12:g.70932953C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly209AlaPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.70932956G>-	NCI-TCGA
rs2234498	p.Leu210Gln	missense variant	-	NC_000002.12:g.70932960T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2234498	p.Leu210Pro	missense variant	-	NC_000002.12:g.70932960T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782207406	p.Pro211His	missense variant	-	NC_000002.12:g.70932963C>A	ExAC,TOPMed,gnomAD
rs1425797414	p.Ala212Pro	missense variant	-	NC_000002.12:g.70932965G>C	TOPMed,gnomAD
rs568822005	p.Ser213Asn	missense variant	-	NC_000002.12:g.70932969G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.His214Tyr	missense variant	-	NC_000002.12:g.70932971C>T	NCI-TCGA
rs1450847283	p.Gly216Arg	missense variant	-	NC_000002.12:g.70932977G>C	TOPMed,gnomAD
rs781980710	p.Gly216Asp	missense variant	-	NC_000002.12:g.70932978G>A	ExAC
rs372789757	p.Thr217Ile	missense variant	-	NC_000002.12:g.70932981C>T	ESP,ExAC,TOPMed,gnomAD
rs1553414577	p.Ser218Pro	missense variant	-	NC_000002.12:g.70932983T>C	gnomAD
COSM1022554	p.Ser218Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70932984C>T	NCI-TCGA Cosmic
rs142431637	p.Leu219Phe	missense variant	-	NC_000002.12:g.70932988A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142431637	p.Leu219Phe	missense variant	-	NC_000002.12:g.70932988A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1553414583	p.Asn224Ser	missense variant	-	NC_000002.12:g.70933002A>G	gnomAD
rs781965616	p.Ser226Tyr	missense variant	-	NC_000002.12:g.70933008C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro227Leu	missense variant	-	NC_000002.12:g.70933011C>T	NCI-TCGA
rs1553414587	p.Pro227Gln	missense variant	-	NC_000002.12:g.70933011C>A	TOPMed
rs2234499	p.Arg228Pro	missense variant	-	NC_000002.12:g.70933014G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2234499	p.Arg228Leu	missense variant	-	NC_000002.12:g.70933014G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2234499	p.Arg228His	missense variant	-	NC_000002.12:g.70933014G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs537419945	p.Arg228Gly	missense variant	-	NC_000002.12:g.70933013C>G	ExAC,TOPMed
rs537419945	p.Arg228Cys	missense variant	-	NC_000002.12:g.70933013C>T	ExAC,TOPMed
rs1553414596	p.Leu229Phe	missense variant	-	NC_000002.12:g.70933016C>T	gnomAD
rs1289552116	p.Pro231Thr	missense variant	-	NC_000002.12:g.70933022C>A	TOPMed
rs376990356	p.Pro231Gln	missense variant	-	NC_000002.12:g.70933023C>A	ESP,ExAC,TOPMed,gnomAD
rs376990356	p.Pro231Leu	missense variant	-	NC_000002.12:g.70933023C>T	ESP,ExAC,TOPMed,gnomAD
COSM3582887	p.Ser233Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70933029C>T	NCI-TCGA Cosmic
rs781959585	p.Ser234Leu	missense variant	-	NC_000002.12:g.70933032C>T	ExAC,TOPMed,gnomAD
COSM4850620	p.Ser236Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70933038C>T	NCI-TCGA Cosmic
rs782586068	p.Ala237Val	missense variant	-	NC_000002.12:g.70933041C>T	ExAC,gnomAD
rs555134830	p.Ser238Cys	missense variant	-	NC_000002.12:g.70933044C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs555134830	p.Ser238Phe	missense variant	-	NC_000002.12:g.70933044C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781925092	p.Pro239Leu	missense variant	-	NC_000002.12:g.70933047C>T	ExAC,TOPMed,gnomAD
rs782438202	p.Pro239Ser	missense variant	-	NC_000002.12:g.70933046C>T	ExAC,TOPMed,gnomAD
rs781925092	p.Pro239His	missense variant	-	NC_000002.12:g.70933047C>A	ExAC,TOPMed,gnomAD
rs140956448	p.Pro240Gln	missense variant	-	NC_000002.12:g.70933050C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368886091	p.Pro240Ala	missense variant	-	NC_000002.12:g.70933049C>G	ESP,ExAC,TOPMed,gnomAD
rs140956448	p.Pro240Arg	missense variant	-	NC_000002.12:g.70933050C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368886091	p.Pro240Ser	missense variant	-	NC_000002.12:g.70933049C>T	ESP,ExAC,TOPMed,gnomAD
rs140956448	p.Pro240Leu	missense variant	-	NC_000002.12:g.70933050C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782563368	p.Pro240HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.70933044C>-	NCI-TCGA,NCI-TCGA Cosmic
rs782186760	p.Leu241ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.70933043_70933044insC	NCI-TCGA
rs183405602	p.Pro242Leu	missense variant	-	NC_000002.12:g.70933056C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781806609	p.Pro243Ser	missense variant	-	NC_000002.12:g.70933058C>T	ExAC,gnomAD
rs782497083	p.Pro243Leu	missense variant	-	NC_000002.12:g.70933059C>T	ExAC,gnomAD
rs782265939	p.Pro244Ser	missense variant	-	NC_000002.12:g.70933061C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro244LeuPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.70933058C>-	NCI-TCGA
rs782408546	p.Pro246Arg	missense variant	-	NC_000002.12:g.70933068C>G	ExAC,TOPMed,gnomAD
rs149973402	p.Val248Leu	missense variant	-	NC_000002.12:g.70933073G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1389215963	p.Cys249Trp	missense variant	-	NC_000002.12:g.70933078C>G	TOPMed
rs1403872982	p.Phe250Ser	missense variant	-	NC_000002.12:g.70933080T>C	TOPMed,gnomAD
rs1553414618	p.Phe250Val	missense variant	-	NC_000002.12:g.70933079T>G	gnomAD
rs1553414625	p.Ser251Phe	missense variant	-	NC_000002.12:g.70933083C>T	gnomAD
rs1553414621	p.Ser251Pro	missense variant	-	NC_000002.12:g.70933082T>C	gnomAD
rs1176779419	p.Ser252Leu	missense variant	-	NC_000002.12:g.70933086C>T	TOPMed
rs1553414626	p.Ser252Pro	missense variant	-	NC_000002.12:g.70933085T>C	gnomAD
rs781962814	p.Ala253Asp	missense variant	-	NC_000002.12:g.70933089C>A	ExAC,gnomAD
rs2234500	p.Pro254Leu	missense variant	-	NC_000002.12:g.70933092C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2234500	p.Pro254Gln	missense variant	-	NC_000002.12:g.70933092C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2234500	p.Pro254Arg	missense variant	-	NC_000002.12:g.70933092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2234500	p.Pro254Arg	missense variant	-	NC_000002.12:g.70933092C>G	UniProt,dbSNP
VAR_020152	p.Pro254Arg	missense variant	-	NC_000002.12:g.70933092C>G	UniProt
rs782368731	p.Pro254Ser	missense variant	-	NC_000002.12:g.70933091C>T	ExAC,TOPMed,gnomAD
rs200750550	p.Leu255Phe	missense variant	-	NC_000002.12:g.70933094C>T	1000Genomes,ExAC,gnomAD
rs1461048464	p.Leu256Arg	missense variant	-	NC_000002.12:g.70933098T>G	TOPMed
rs1553414639	p.Asp257Asn	missense variant	-	NC_000002.12:g.70933100G>A	gnomAD
COSM4095386	p.Asp257Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70933102T>A	NCI-TCGA Cosmic
rs782080953	p.Pro259His	missense variant	-	NC_000002.12:g.70933107C>A	TOPMed,gnomAD
rs527794817	p.Gly261Ser	missense variant	-	NC_000002.12:g.70933112G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs781854813	p.Gly261Val	missense variant	-	NC_000002.12:g.70933113G>T	ExAC,gnomAD
rs782514299	p.Tyr262His	missense variant	-	NC_000002.12:g.70933115T>C	ExAC,gnomAD
rs781910150	p.Glu263Ter	stop gained	-	NC_000002.12:g.70933118G>T	ExAC,TOPMed,gnomAD
rs781910150	p.Glu263Lys	missense variant	-	NC_000002.12:g.70933118G>A	ExAC,TOPMed,gnomAD
rs781910150	p.Glu263Gln	missense variant	-	NC_000002.12:g.70933118G>C	ExAC,TOPMed,gnomAD
rs1553414648	p.Leu264Met	missense variant	-	NC_000002.12:g.70933121C>A	gnomAD
rs782213520	p.Gly265Ser	missense variant	-	NC_000002.12:g.70933124G>A	ExAC,gnomAD
rs782213520	p.Gly265Cys	missense variant	-	NC_000002.12:g.70933124G>T	ExAC,gnomAD
rs377703915	p.Ser266Pro	missense variant	-	NC_000002.12:g.70933127T>C	ExAC,gnomAD
rs377703915	p.Ser266Ala	missense variant	-	NC_000002.12:g.70933127T>G	ExAC,gnomAD
rs141208791	p.Ser267Leu	missense variant	-	NC_000002.12:g.70933131C>T	ESP,ExAC,TOPMed,gnomAD
rs782181165	p.Ala268Gly	missense variant	-	NC_000002.12:g.70933134C>G	ExAC,TOPMed,gnomAD
rs1553414655	p.Phe269Leu	missense variant	-	NC_000002.12:g.70933136T>C	gnomAD
rs782327273	p.Glu270Asp	missense variant	-	NC_000002.12:g.70933141G>T	ExAC,gnomAD
rs943795899	p.Glu270Lys	missense variant	-	NC_000002.12:g.70933139G>A	TOPMed,gnomAD
rs781955018	p.Tyr272Ter	stop gained	-	NC_000002.12:g.70933147C>G	ExAC,gnomAD
rs1553414659	p.Tyr272His	missense variant	-	NC_000002.12:g.70933145T>C	gnomAD
rs1553414661	p.Ser273Arg	missense variant	-	NC_000002.12:g.70933150C>A	gnomAD
rs782111576	p.Ser273Cys	missense variant	-	NC_000002.12:g.70933148A>T	ExAC,gnomAD
rs782793917	p.Trp274Cys	missense variant	-	NC_000002.12:g.70933153G>T	ExAC,TOPMed,gnomAD
rs782163417	p.Glu276Lys	missense variant	-	NC_000002.12:g.70933157G>A	ExAC,TOPMed,gnomAD
rs200587085	p.Arg277Trp	missense variant	-	NC_000002.12:g.70933160C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs782753663	p.Arg277Gln	missense variant	-	NC_000002.12:g.70933161G>A	ExAC,TOPMed,gnomAD
rs200587085	p.Arg277Gly	missense variant	-	NC_000002.12:g.70933160C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1553414671	p.Lys278Arg	missense variant	-	NC_000002.12:g.70933164A>G	gnomAD
rs1241574984	p.Val279Ala	missense variant	-	NC_000002.12:g.70933167T>C	TOPMed
rs1553414672	p.Ser281Ile	missense variant	-	NC_000002.12:g.70933173G>T	gnomAD
rs782669289	p.Ala282Val	missense variant	-	NC_000002.12:g.70933176C>T	ExAC,gnomAD
rs147336899	p.Ala282Thr	missense variant	-	NC_000002.12:g.70933175G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1553414677	p.Ser284Arg	missense variant	-	NC_000002.12:g.70933183C>A	TOPMed
rs1284173116	p.Cys285Arg	missense variant	-	NC_000002.12:g.70933184T>C	TOPMed,gnomAD
COSM6158616	p.Lys286Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.70933187A>T	NCI-TCGA Cosmic
rs782285943	p.Ala288Pro	missense variant	-	NC_000002.12:g.70933193G>C	ExAC,TOPMed,gnomAD
rs1362234809	p.Thr290Ile	missense variant	-	NC_000002.12:g.70933200C>T	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003119	Anophthalmos	disease	BEFREE
C0004106	Astigmatism	disease	GWASDB

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:0001162	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IBA
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA
GO:0003700	DNA-binding transcription factor activity	NAS
GO:0031490	chromatin DNA binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007398	ectoderm development	TAS
GO:0007409	axonogenesis	IEA
GO:0007417	central nervous system development	IBA
GO:0007601	visual perception	IEA
GO:0009950	dorsal/ventral axis specification	IEA
GO:0016055	Wnt signaling pathway	IEA
GO:0030182	neuron differentiation	IBA
GO:0030900	forebrain development	ISS
GO:0048048	embryonic eye morphogenesis	IEA
GO:0060041	retina development in camera-type eye	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005737	cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of VAX2 mRNA	16483693
D001151	Arsenic	Arsenic affects the methylation of VAX2 gene	25304211
D001280	Atrazine	Atrazine results in decreased expression of VAX2 mRNA	25929836
C006780	bisphenol A	bisphenol A affects the methylation of VAX2 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of VAX2 mRNA	25181051
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of VAX2 gene	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of VAX2 mRNA	27392435
D016572	Cyclosporine	Cyclosporine results in decreased expression of VAX2 mRNA	25562108
D003840	Deoxycholic Acid	[gluconic acid co-treated with Deoxycholic Acid] results in increased expression of VAX2 mRNA	16556975
C121718	dicyclanil	dicyclanil results in increased expression of VAX2 mRNA	15664270
D004041	Dietary Fats	Dietary Fats results in increased expression of VAX2 mRNA	25016146
D004726	Endosulfan	Endosulfan results in increased expression of VAX2 mRNA	29391264
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of VAX2 mRNA	15212814
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of VAX2 gene	20938992
C030691	gluconic acid	[gluconic acid co-treated with Deoxycholic Acid] results in increased expression of VAX2 mRNA	16556975
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of VAX2 gene	20938992
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of VAX2 mRNA	19710929
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of VAX2 mRNA	23608068
D011374	Progesterone	Progesterone results in increased expression of VAX2 mRNA	20726854
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of VAX2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of VAX2 mRNA	24058054
C009495	titanium dioxide	titanium dioxide results in decreased expression of VAX2 mRNA	29264374
D001335	Vehicle Emissions	Vehicle Emissions affects the expression of VAX2 mRNA	23940539

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR020479	Homeobox_metazoa
IPR000047	HTH_motif
IPR033021	Vax2

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: VAX2

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