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VAX2 ventral anterior homeobox 2 [ Homo sapiens (human) ]

Gene ID: 25806, updated on 21-Dec-2019

Summary

Official Symbol
VAX2provided by HGNC
Official Full Name
ventral anterior homeobox 2provided by HGNC
Primary source
HGNC:HGNC:12661
See related
Ensembl:ENSG00000116035 MIM:604295
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DRES93
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 retinal development. [provided by RefSeq, Sep 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See VAX2 in Genome Data Viewer
Location:
2p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70900551..70933917)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71127720..71160576)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CD207 molecule Neighboring gene long intergenic non-protein coding RNA 1143 Neighboring gene ATP6V1B1 antisense RNA 1 Neighboring gene ATPase H+ transporting V1 subunit B1 Neighboring gene elongin C pseudogene 21

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Identification of a candidate gene for astigmatism.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dorsal/ventral axis specification IEA
Inferred from Electronic Annotation
more info
 
ectoderm development TAS
Traceable Author Statement
more info
PubMed 
embryonic eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
forebrain development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ventral anterior homeobox 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030009.1 RefSeqGene

    Range
    4987..37857
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012476.3NP_036608.1  ventral anterior homeobox 2

    See identical proteins and their annotated locations for NP_036608.1

    Status: REVIEWED

    Source sequence(s)
    AC007040, Y17791
    Consensus CDS
    CCDS1911.1
    UniProtKB/Swiss-Prot
    Q9UIW0
    UniProtKB/TrEMBL
    F1T0K5
    Related
    ENSP00000234392.2, ENST00000234392.3
    Conserved Domains (1) summary
    pfam00046
    Location:105158
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    70900551..70933917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711982.4XP_006712045.1  ventral anterior homeobox 2 isoform X1

    See identical proteins and their annotated locations for XP_006712045.1

    Conserved Domains (1) summary
    pfam00046
    Location:105145
    Homeobox; Homeobox domain
  2. XM_011532751.3XP_011531053.1  ventral anterior homeobox 2 isoform X1

    See identical proteins and their annotated locations for XP_011531053.1

    Conserved Domains (1) summary
    pfam00046
    Location:105145
    Homeobox; Homeobox domain
  3. XM_011532750.3XP_011531052.1  ventral anterior homeobox 2 isoform X1

    See identical proteins and their annotated locations for XP_011531052.1

    Conserved Domains (1) summary
    pfam00046
    Location:105145
    Homeobox; Homeobox domain
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