Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	25806
Gene name	Ventral anterior homeobox 2
Gene symbol	VAX2
Synonyms (NCBI Gene)	DRES93
Chromosome	2
Chromosome location	2p13.3
Summary	This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of reti

Show/Hide all (45)

miRTarBase ID	miRNA	Experiments
MIRT1483194	hsa-miR-4463	CLIP-seq
MIRT1483195	hsa-miR-4646-5p	CLIP-seq
MIRT1483196	hsa-miR-4731-5p	CLIP-seq
MIRT1483197	hsa-miR-4747-5p	CLIP-seq
MIRT1483198	hsa-miR-4768-3p	CLIP-seq
MIRT1483199	hsa-miR-486-3p	CLIP-seq
MIRT2145486	hsa-miR-1184	CLIP-seq
MIRT2145487	hsa-miR-147	CLIP-seq
MIRT2145488	hsa-miR-2110	CLIP-seq
MIRT2145489	hsa-miR-3911	CLIP-seq
MIRT2145490	hsa-miR-4271	CLIP-seq
MIRT2145491	hsa-miR-4276	CLIP-seq
MIRT2145492	hsa-miR-4474-3p	CLIP-seq
MIRT2145493	hsa-miR-4725-3p	CLIP-seq
MIRT2145494	hsa-miR-491-5p	CLIP-seq
MIRT2145495	hsa-miR-574-5p	CLIP-seq
MIRT2145496	hsa-miR-604	CLIP-seq
MIRT2145497	hsa-miR-644	CLIP-seq
MIRT2145498	hsa-miR-647	CLIP-seq
MIRT2145486	hsa-miR-1184	CLIP-seq
MIRT2145487	hsa-miR-147	CLIP-seq
MIRT2365769	hsa-miR-18a	CLIP-seq
MIRT2365770	hsa-miR-18b	CLIP-seq
MIRT2145488	hsa-miR-2110	CLIP-seq
MIRT2145489	hsa-miR-3911	CLIP-seq
MIRT2365771	hsa-miR-423-3p	CLIP-seq
MIRT2145490	hsa-miR-4271	CLIP-seq
MIRT2145491	hsa-miR-4276	CLIP-seq
MIRT2365772	hsa-miR-4302	CLIP-seq
MIRT1483194	hsa-miR-4463	CLIP-seq
MIRT2145492	hsa-miR-4474-3p	CLIP-seq
MIRT1483195	hsa-miR-4646-5p	CLIP-seq
MIRT2145493	hsa-miR-4725-3p	CLIP-seq
MIRT1483196	hsa-miR-4731-5p	CLIP-seq
MIRT2365773	hsa-miR-4735-3p	CLIP-seq
MIRT1483197	hsa-miR-4747-5p	CLIP-seq
MIRT1483198	hsa-miR-4768-3p	CLIP-seq
MIRT1483199	hsa-miR-486-3p	CLIP-seq
MIRT2145494	hsa-miR-491-5p	CLIP-seq
MIRT2145495	hsa-miR-574-5p	CLIP-seq
MIRT2145496	hsa-miR-604	CLIP-seq
MIRT2365774	hsa-miR-626	CLIP-seq
MIRT2145497	hsa-miR-644	CLIP-seq
MIRT2145498	hsa-miR-647	CLIP-seq
MIRT2365775	hsa-miR-767-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001162	Function	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	10485894
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007398	Process	Ectoderm development	TAS	10485894
GO:0007409	Process	Axonogenesis	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0007420	Process	Brain development	IBA
GO:0007601	Process	Visual perception	TAS	10485894
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030900	Process	Forebrain development	IEA
GO:0030900	Process	Forebrain development	ISS
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
604295	12661	ENSG00000116035

Q9UIW0

Protein name

Ventral anterior homeobox 2

Protein function

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 p

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	103 → 159	Homeodomain	Domain

Sequence

MGDGGAERDRGPARRAESGGGGGRCGDRSGAGDLRADGGGHSPTEVAGTSASSPAGSRES
GADSDGQPGPGEADHCRRILVRDAKGTIREIVLPKGLDLDRPKRTRTSFTAEQLYRLEME
FQRCQYVVGRERTELARQLNLSETQVKVWFQNRRTKQKKDQSRDLEKRASSSASEAFATS
NILRLLEQGRLLSVPRAPSLLALTPSLPGLPASHRGTSLGDPRNSSPRLNPLSSASASPP
LPPPLPAVCFSSAPLLDLPAGYELGSSAFEPYSWLERKVGSASSCKKANT

Sequence length

290

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anophthalmos	Syndromic microphthalmia	BEFREE	22095910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	GWASCAT_DG	23322567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	29947570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	BEFREE	26068435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11045400, 16611712, 16769747, 23729491, 23923981, 27247958, 28188436, 7499943, 9916796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11045400, 16611712, 16769747, 23729491, 23923981, 27247958, 28188436, 7499943, 9916796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26929985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	28893421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	26068435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	GWASDB_DG	23322567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness	CLINVAR_DG	18798332, 28233610		★★★★★ ★☆☆☆☆ Found in Text Mining only

VAX2 (ventral anterior homeobox 2)