Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 25806, updated on 15-Jun-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 current GRCh38.p12 (GCF_000001405.38) 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 FunctionsWhat'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

    Pathways from BioSystems

    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...

    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
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    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
      5001..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 Annotation Release 109

    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
    Support Center