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    VSX2 visual system homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 338917, updated on 9-Jun-2016
    Official Symbol
    VSX2provided by HGNC
    Official Full Name
    visual system homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:1975
    See related
    Ensembl:ENSG00000119614 HPRD:08852; MIM:142993; Vega:OTTHUMG00000171206
    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
    RET1; CHX10; HOX10; MCOP2; MCOPCB3
    Summary
    This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    14q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (74239472..74262738)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74706175..74729441)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene lin-52 DREAM MuvB core complex component Neighboring gene RNA, 7SL, cytoplasmic 530, pseudogene Neighboring gene uncharacterized LOC105370564 Neighboring gene ATP binding cassette subfamily D member 4 Neighboring gene SUB1 homolog, transcriptional regulator pseudogene 2 Neighboring gene vertebrae development associated

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    visual system homeobox 2
    Names
    ceh-10 homeo domain containing homolog
    ceh-10 homeodomain-containing homolog
    homeobox protein CHX10

    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_013092.1 RefSeqGene

      Range
      5001..28267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_182894.2NP_878314.1  visual system homeobox 2

      See identical proteins and their annotated locations for NP_878314.1

      Status: REVIEWED

      Source sequence(s)
      AC005519, AC006349
      Consensus CDS
      CCDS9827.1
      UniProtKB/Swiss-Prot
      P58304
      Related
      ENSP00000261980, OTTHUMP00000245436, ENST00000261980, OTTHUMT00000412323
      Conserved Domains (1) summary
      cd00086
      Location:153207
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      74239472..74262738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      74645738..74668970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)