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

    Gene ID: 25806, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:12661
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70900576..70933446)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70911643..70944499)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71127706..71160576)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene C-type lectin domain family 4 member F Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:71057644-71058843 Neighboring gene CD207 molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71091695-71092194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71114858-71115508 Neighboring gene long intergenic non-protein coding RNA 1143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71128841-71129734 Neighboring gene uncharacterized LOC124906188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71165634-71166474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71166475-71167314 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    ventral anterior homeobox 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Q53Y33, Q9UIW0
      UniProtKB/TrEMBL
      F1T0K5
      Related
      ENSP00000234392.2, ENST00000234392.3
      Conserved Domains (1) summary
      pfam00046
      Location:105158
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      70900576..70933446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532751.4XP_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
    2. XM_011532750.4XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      70911643..70944499
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341313.1XP_054197288.1  ventral anterior homeobox 2 isoform X1

    2. XM_054341314.1XP_054197289.1  ventral anterior homeobox 2 isoform X1