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
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
  • lymph node

  • nucleus of brain

  • substantia nigra

  • subcutaneous adipose tissue

  • hypothalamus

  • anterior pituitary

  • gonad
Top expressed in
  • lens

  • ciliary body

  • corneal stroma

  • inner nuclear layer

  • iris

  • secondary oocyte

  • optic vesicle

  • right ventricle

  • medial ganglionic eminence

  • morula
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 (Aug 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 Centre, The; Washington University Genome Sequencing Centre, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
  • Ferda Percin E, Ploder LA, Yu JJ, et al. (2000). "Human microphthalmia associated with mutations in the retinal homeobox gene CHX10". Nat. Genet. 25 (4): 397–401. doi:10.1038/78071. PMID 10932181. S2CID 9508022.
  • Mikkola I, Bruun JA, Holm T, Johansen T (2001). "Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins". J. Biol. Chem. 276 (6): 4109–4118. doi:10.1074/jbc.M008882200. PMID 11069920.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Heilig R, Eckenberg R, Petit JL, et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–607. Bibcode:2003Natur.421..601H. doi:10.1038/nature01348. PMID 12508121.
  • Bar-Yosef U, Abuelaish I, Harel T, et al. (2005). "CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds". Hum. Genet. 115 (4): 302–309. doi:10.1007/s00439-004-1154-2. PMID 15257456. S2CID 28981190.
  • Dorval KM, Bobechko BP, Ahmad KF, Bremner R (2005). "Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1". J. Biol. Chem. 280 (11): 10100–10108. doi:10.1074/jbc.M412676200. PMID 15647262.
  • Kuiper H, Spötter A, Williams JL, et al. (2005). "Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34". Cytogenet. Genome Res. 109 (4): 533. doi:10.1159/000084217. PMID 15909363.
  • Dorval KM, Bobechko BP, Fujieda H, et al. (2006). "CHX10 targets a subset of photoreceptor genes". J. Biol. Chem. 281 (2): 744–751. doi:10.1074/jbc.M509470200. PMID 16236706.
  • Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, et al. (2007). "Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar". Clin. Genet. 72 (2): 164–166. doi:10.1111/j.1399-0004.2007.00846.x. PMID 17661825. S2CID 6218901.
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