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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11023
Gene name	Ventral anterior homeobox 1
Gene symbol	VAX1
Synonyms (NCBI Gene)	MCOPS11
Chromosome	10
Chromosome location	10q25.3
Summary	This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, cal

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387907252	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant

Show/Hide all (80)

miRTarBase ID	miRNA	Experiments	Reference
MIRT736747	hsa-miR-7-1-3p	Immunohistochemistry (IHC)qRT-PCRIn situ hybridization	32762844
MIRT1483143	hsa-miR-1470	CLIP-seq
MIRT1483144	hsa-miR-384	CLIP-seq
MIRT1483145	hsa-miR-4446-5p	CLIP-seq
MIRT1483146	hsa-miR-4667-3p	CLIP-seq
MIRT1483147	hsa-miR-4755-5p	CLIP-seq
MIRT1483148	hsa-miR-642a	CLIP-seq
MIRT1483149	hsa-miR-885-3p	CLIP-seq
MIRT1483150	hsa-miR-101	CLIP-seq
MIRT1483151	hsa-miR-103a	CLIP-seq
MIRT1483152	hsa-miR-105	CLIP-seq
MIRT1483153	hsa-miR-107	CLIP-seq
MIRT1483154	hsa-miR-1184	CLIP-seq
MIRT1483155	hsa-miR-1205	CLIP-seq
MIRT1483156	hsa-miR-1305	CLIP-seq
MIRT1483157	hsa-miR-144	CLIP-seq
MIRT1483158	hsa-miR-181a	CLIP-seq
MIRT1483159	hsa-miR-181b	CLIP-seq
MIRT1483160	hsa-miR-181c	CLIP-seq
MIRT1483161	hsa-miR-181d	CLIP-seq
MIRT1483162	hsa-miR-3126-5p	CLIP-seq
MIRT1483163	hsa-miR-3158-5p	CLIP-seq
MIRT1483164	hsa-miR-3192	CLIP-seq
MIRT1483165	hsa-miR-331-3p	CLIP-seq
MIRT1483166	hsa-miR-3682-5p	CLIP-seq
MIRT1483167	hsa-miR-3685	CLIP-seq
MIRT1483168	hsa-miR-371-5p	CLIP-seq
MIRT1483169	hsa-miR-371b-5p	CLIP-seq
MIRT1483170	hsa-miR-374c	CLIP-seq
MIRT1483171	hsa-miR-3929	CLIP-seq
MIRT1483172	hsa-miR-4262	CLIP-seq
MIRT1483173	hsa-miR-4289	CLIP-seq
MIRT1483174	hsa-miR-4292	CLIP-seq
MIRT1483175	hsa-miR-4419a	CLIP-seq
MIRT1483176	hsa-miR-4419b	CLIP-seq
MIRT1483177	hsa-miR-4478	CLIP-seq
MIRT1483178	hsa-miR-4510	CLIP-seq
MIRT1483179	hsa-miR-4649-3p	CLIP-seq
MIRT1483180	hsa-miR-4659a-5p	CLIP-seq
MIRT1483181	hsa-miR-4659b-5p	CLIP-seq
MIRT1483182	hsa-miR-4695-5p	CLIP-seq
MIRT1483183	hsa-miR-4768-3p	CLIP-seq
MIRT1483184	hsa-miR-4776-3p	CLIP-seq
MIRT1483185	hsa-miR-513c	CLIP-seq
MIRT1483186	hsa-miR-514b-5p	CLIP-seq
MIRT1483187	hsa-miR-539	CLIP-seq
MIRT1483188	hsa-miR-580	CLIP-seq
MIRT1483189	hsa-miR-607	CLIP-seq
MIRT1483190	hsa-miR-630	CLIP-seq
MIRT1483191	hsa-miR-655	CLIP-seq
MIRT1483192	hsa-miR-664	CLIP-seq
MIRT1483193	hsa-miR-891b	CLIP-seq
MIRT1483151	hsa-miR-103a	CLIP-seq
MIRT1483153	hsa-miR-107	CLIP-seq
MIRT1483154	hsa-miR-1184	CLIP-seq
MIRT1483155	hsa-miR-1205	CLIP-seq
MIRT1483163	hsa-miR-3158-5p	CLIP-seq
MIRT1483187	hsa-miR-539	CLIP-seq
MIRT1483188	hsa-miR-580	CLIP-seq
MIRT1483193	hsa-miR-891b	CLIP-seq
MIRT2365759	hsa-miR-3154	CLIP-seq
MIRT2365760	hsa-miR-3179	CLIP-seq
MIRT2365761	hsa-miR-3650	CLIP-seq
MIRT2365762	hsa-miR-3936	CLIP-seq
MIRT2365763	hsa-miR-4265	CLIP-seq
MIRT2365764	hsa-miR-4296	CLIP-seq
MIRT2365765	hsa-miR-4318	CLIP-seq
MIRT2365766	hsa-miR-4322	CLIP-seq
MIRT2365767	hsa-miR-4417	CLIP-seq
MIRT2365768	hsa-miR-4455	CLIP-seq
MIRT1483154	hsa-miR-1184	CLIP-seq
MIRT2463156	hsa-miR-197	CLIP-seq
MIRT2463157	hsa-miR-1976	CLIP-seq
MIRT2463158	hsa-miR-370	CLIP-seq
MIRT2463159	hsa-miR-4753-3p	CLIP-seq
MIRT2463160	hsa-miR-4768-5p	CLIP-seq
MIRT2659341	hsa-miR-1277	CLIP-seq
MIRT2463156	hsa-miR-197	CLIP-seq
MIRT2659342	hsa-miR-4694-5p	CLIP-seq
MIRT2659343	hsa-miR-522	CLIP-seq

Show/Hide all (33)

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:0001764	Process	Neuron migration	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060563	Process	Neuroepithelial cell differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
604294	12660	ENSG00000148704

Q5SQQ9

Protein name

Ventral anterior homeobox 1

Protein function

Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epitheli

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	101 → 157	Homeodomain	Domain

Sequence

MFGKPDKMDVRCHSDAEAARVSKNAHKESRESKGAEGNLPAAFLKEPQGAFSASGAAEDC
NKSKSNSAADPDYCRRILVRDAKGSIREIILPKGLDLDRPKRTRTSFTAEQLYRLEMEFQ
RCQYVVGRERTELARQLNLSETQVKVWFQNRRTKQKKDQGKDSELRSVVSETAATCSVLR
LLEQGRLLSPPGLPALLPPCATGALGSALRGPSLPALGAGAAAGSAAAAAAAAPGPAGAA
SPHPPAVGGAPGPGPAGPGGLHAGAPAAGHSLFSLPVPSLLGSVASRLSSAPLTMAGSLA
GNLQELSARYLSSSAFEPYSRTNNKEGAEKKALD

Sequence length

334

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microphthalmia	Likely pathogenic	rs2493443432	RCV002291340	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia, syndromic 11	Pathogenic	rs387907252	RCV000030635	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

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.
MICROPHTHALMOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAX1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	22143938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	22095910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	22095910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	22095910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	22095910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	22095910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	33051600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22529986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33941222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22529986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	22095910, 23679094, 27321816, 28662356, 33132092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	23081944, 23463464, 23679094, 28383424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	23679094, 25081408, 27369588, 28008912, 28383424, 30638414, 31122291, 33132092, 35419918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	24859618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	BEFREE	28771384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22529986		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 11	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	22095910		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROPHTHALMIA, SYNDROMIC 11	Syndromic microphthalmia	UNIPROT_DG	22095910		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROPHTHALMIA, SYNDROMIC 11	Syndromic microphthalmia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROPHTHALMIA, SYNDROMIC 11	Syndromic microphthalmia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmos	Microphthalmos	BEFREE	22095910		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	Pubtator	22095910	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial Cleft 1	Orofacial cleft	Pubtator	22095910, 23463464, 23679094, 27527345, 28383424, 33132092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	27527345, 30633559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	22719993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22143938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	28771384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22529986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

VAX1 (ventral anterior homeobox 1)