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

Gene ID: 338917, updated on 1-Jun-2020

Summary

Official Symbol
VSX2provided by HGNC
Official Full Name
visual system homeobox 2provided by HGNC
Primary source
HGNC:HGNC:1975
See related
Ensembl:ENSG00000119614 MIM:142993
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See VSX2 in Genome Data Viewer
Location:
14q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (74239449..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 small ubiquitin-related modifier 2-like Neighboring gene uncharacterized LOC105370564 Neighboring gene ATP binding cassette subfamily D member 4 Neighboring gene SUB1 pseudogene 2 Neighboring gene vertebrae development associated

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neural retina development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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
visual system homeobox 2
Names
ceh-10 homeo domain containing homolog
ceh-10 homeodomain-containing homolog
homeobox protein CHX10

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_013092.1 RefSeqGene

    Range
    4978..28267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_182894.3NP_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
    ENSP00000261980.2, ENST00000261980.3
    Conserved Domains (2) summary
    pfam00046
    Location:153204
    Homeobox; Homeobox domain
    pfam03826
    Location:300318
    OAR; OAR domain

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    74239449..74262738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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