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

Gene ID: 338917, updated on 2-Nov-2024

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; AllianceGenome:HGNC:1975
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
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Genomic context

See VSX2 in Genome Data Viewer
Location:
14q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74239449..74262738)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68447256..68470582)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74706152..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 MPRA-validated peak2199 silencer Neighboring gene uncharacterized LOC105370564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74707503-74708468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74712311-74712812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:74732232-74732732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74758461-74759313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8726 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 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 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)

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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
    A1A4X6, P58304
    Related
    ENSP00000261980.2, ENST00000261980.3
    Conserved Domains (2) summary
    pfam00046
    Location:153205
    Homeobox; Homeobox domain
    pfam03826
    Location:300318
    OAR; OAR domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    68447256..68470582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)