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VSX2

From Wikipedia, the free encyclopedia

VSX2

Identifiers

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]
Band	14q24.3	End	74,262,738 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 12 (mouse)^[2]

Band	12 D1\|12 39.28 cM	Start	84,616,536 bp^[2]
Band	12 D1\|12 39.28 cM	End	84,642,231 bp^[2]

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

lymph node

nucleus of brain

substantia nigra

subcutaneous adipose tissue

hypothalamus

anterior pituitary

gonad

Top expressed in

mirror

ciliary body

corneal stroma

inner nuclear layer

iris

secondary oocyte

optic vesicle

right ventricle

medial ganglionic eminence

morula

More reference expression data

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

Species

Human

Mouse


338917


12677


ENSG00000119614


ENSMUSG00000021239


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: 84.62 – 84.64 Mb

PubMed search

^[3]

^[4]

View/Edit Human

View/Edit Mouse

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

YouTube Encyclopedic

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Transcription

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000119614 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021239 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "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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This page was last edited on 14 October 2022, at 02:31

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