VSX2

Protein-coding gene in the species Homo sapiens

VSX2
Identifiers
AliasesVSX2, CHX10, HOX10, MCOP2, MCOPCB3, RET1, visual system homeobox 2
External IDsOMIM: 142993; MGI: 88401; HomoloGene: 7266; GeneCards: VSX2; OMA:VSX2 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for VSX2
Genomic location for VSX2
Band14q24.3Start74,239,449 bp[1]
End74,262,738 bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for VSX2
Genomic location for VSX2
Band12 D1|12 39.28 cMStart84,616,536 bp[2]
End84,642,231 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • gonad

  • lymph node

  • C1 segment

  • nucleus of brain

  • substantia nigra

  • subcutaneous adipose tissue

  • hypothalamus

  • anterior pituitary
Top expressed in
  • neural layer of retina

  • lens

  • ciliary body

  • corneal stroma

  • inner nuclear layer

  • iris

  • lumbar subsegment of spinal cord

  • epithelium of lens

  • gastrula

  • central gray substance of midbrain
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • sequence-specific DNA binding
  • DNA binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • nucleus
Biological process
  • multicellular organism development
  • regulation of transcription, DNA-templated
  • transcription, DNA-templated
  • response to stimulus
  • visual perception
  • regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

338917

12677

Ensembl

ENSG00000119614

ENSMUSG00000021239

UniProt

P58304

Q61412

RefSeq (mRNA)

NM_182894

NM_001301427
NM_007701

RefSeq (protein)

NP_878314

NP_001288356
NP_031727

Location (UCSC)Chr 14: 74.24 – 74.26 MbChr 12: 84.62 – 84.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Visual system homeobox 2 is a protein that in humans is encoded by the VSX2 gene.[5][6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119614 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021239 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ McAlpine PJ, Shows TB (July 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  6. ^ "Entrez Gene: CHX10 ceh-10 homeodomain containing homolog (C. elegans)".

Further reading

  • Sanger Center, Washington University Genome Sequencing Center (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
  • Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, et al. (August 2000). "Human microphthalmia associated with mutations in the retinal homeobox gene CHX10". Nature Genetics. 25 (4): 397–401. doi:10.1038/78071. PMID 10932181. S2CID 9508022.
  • Mikkola I, Bruun JA, Holm T, Johansen T (February 2001). "Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins". The Journal of Biological Chemistry. 276 (6): 4109–4118. doi:10.1074/jbc.M008882200. PMID 11069920.
  • Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS (September 2004). "CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds". Human Genetics. 115 (4): 302–309. doi:10.1007/s00439-004-1154-2. PMID 15257456. S2CID 28981190.
  • Dorval KM, Bobechko BP, Ahmad KF, Bremner R (March 2005). "Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1". The Journal of Biological Chemistry. 280 (11): 10100–10108. doi:10.1074/jbc.M412676200. PMID 15647262.
  • Kuiper H, Spötter A, Williams JL, Distl O, Drögemüller C (2005). "Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34". Cytogenetic and Genome Research. 109 (4): 533. doi:10.1159/000084217. PMID 15909363.
  • Dorval KM, Bobechko BP, Fujieda H, Chen S, Zack DJ, Bremner R (January 2006). "CHX10 targets a subset of photoreceptor genes". The Journal of Biological Chemistry. 281 (2): 744–751. doi:10.1074/jbc.M509470200. PMID 16236706.
  • Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS (August 2007). "Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar". Clinical Genetics. 72 (2): 164–166. doi:10.1111/j.1399-0004.2007.00846.x. PMID 17661825. S2CID 6218901.
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