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Vsx2 visual system homeobox 2 [ Mus musculus (house mouse) ]

Gene ID: 12677, updated on 8-May-2016
Official Symbol
Vsx2provided by MGI
Official Full Name
visual system homeobox 2provided by MGI
Primary source
MGI:MGI:88401
See related
Ensembl:ENSMUSG00000021239 Vega:OTTMUSG00000038498
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
or; Chx10; Hox10; Hox-10
Summary
This gene encodes a member of the Vsx (visual system homeobox) family which belongs to the larger PRD homeobox class. The encoded protein is required for eye organogenesis and controls retinal development. Disruption of this gene is associated with ocular retardation J (orJ), a mouse disease which causes microphthalmia, retinal degeneration and optic nerve aplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Orthologs
Location:
12 D1; 12 39.28 cM
Exon count:
5
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 12 NC_000078.6 (84569828..84595457)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (85910802..85936407)

Chromosome 12 - NC_000078.6Genomic Context describing neighboring genes Neighboring gene basal body orientation factor 1 Neighboring gene aldehyde dehydrogenase family 6, subfamily A1 Neighboring gene lin-52 homolog (C. elegans) Neighboring gene ATP-binding cassette, sub-family D (ALD), member 4 Neighboring gene vertebrae development associated

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
Products Interactant Other Gene Complex Source Pubs Description

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
camera-type eye development IGI
Inferred from Genetic Interaction
more info
PubMed 
cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
retina morphogenesis in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
retinal bipolar neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
visual system homeobox 2
Names
C. elegans ceh-10 homeo domain containing homolog
ceh-10 homeodomain-containing homolog
homeobox protein CHX10
ocular retardation

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.

mRNA and Protein(s)

  1. NM_001301427.1NP_001288356.1  visual system homeobox 2 isoform 1

    See identical proteins and their annotated locations for NP_001288356.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK143461, BC058806
    Consensus CDS
    CCDS79136.1
    UniProtKB/TrEMBL
    Q6PDC1, Q80WF9
    Related
    ENSMUSP00000131009, OTTMUSP00000055786, ENSMUST00000169934, OTTMUST00000099372
    Conserved Domains (2) 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.
    pfam03826
    Location:318336
    OAR; OAR domain
  2. NM_007701.3NP_031727.1  visual system homeobox 2 isoform 2

    See identical proteins and their annotated locations for NP_031727.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1
    Source sequence(s)
    AK143461, BC031869, BC051245
    Consensus CDS
    CCDS36493.1
    UniProtKB/Swiss-Prot
    Q61412
    UniProtKB/TrEMBL
    Q80WF9
    Related
    ENSMUSP00000021665, OTTMUSP00000055785, ENSMUST00000021665, OTTMUST00000099371
    Conserved Domains (2) 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.
    pfam03826
    Location:299317
    OAR; OAR domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000078.6 Reference GRCm38.p3 C57BL/6J

    Range
    84569828..84595457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

  1. AC_000034.1 Alternate Mm_Celera

    Range
    86025387..86051063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)