VSX2

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

VSX2
Identifiers
Aliases	VSX2, CHX10, HOX10, MCOP2, MCOPCB3, RET1, visual system homeobox 2
External IDs	OMIM: 142993 MGI: 88401 HomoloGene: 7266 GeneCards: VSX2
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q24.3 Start 74,239,449 bp[1] End 74,262,738 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 D1|12 39.28 cM Start 84,569,762 bp[2] End 84,595,457 bp[2]
Gene ontology Molecular function • sequence-specific DNA binding • DNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus Biological process • multicellular organism development • regulation of transcription, DNA-templated • transcription, DNA-templated • response to stimulus • visual perception • regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr 12: 84.57 – 84.6 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000119614 - Ensembl, May 2017
2. 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 Cente, 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.
• 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. 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. 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.
• 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.