ZIC2

ZIC2

Zic family member 2 (odd-paired homolog, Drosophila), also known as ZIC2, is a human gene.cite web | title = Entrez Gene: ZIC2 Zic family member 2 (odd-paired homolog, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7546| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13.cite web | title = Entrez Gene: ZIC2 Zic family member 2 (odd-paired homolog, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7546| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Brown S, Gersen S, Anyane-Yeboa K, Warburton D |title=Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. |journal=Am. J. Med. Genet. |volume=45 |issue= 1 |pages= 52–9 |year= 1993 |pmid= 8418661 |doi= 10.1002/ajmg.1320450115
*cite journal | author=Aruga J, Nagai T, Tokuyama T, "et al." |title=The mouse zic gene family. Homologues of the Drosophila pair-rule gene odd-paired. |journal=J. Biol. Chem. |volume=271 |issue= 2 |pages= 1043–7 |year= 1996 |pmid= 8557628 |doi=
*cite journal | author=Brown SA, Warburton D, Brown LY, "et al." |title=Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. |journal=Nat. Genet. |volume=20 |issue= 2 |pages= 180–3 |year= 1998 |pmid= 9771712 |doi= 10.1038/2484
*cite journal | author=Yang Y, Hwang CK, Junn E, "et al." |title=ZIC2 and Sp3 repress Sp1-induced activation of the human D1A dopamine receptor gene. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38863–9 |year= 2001 |pmid= 10984499 |doi= 10.1074/jbc.M007906200
*cite journal | author=Salero E, Pérez-Sen R, Aruga J, "et al." |title=Transcription factors Zic1 and Zic2 bind and transactivate the apolipoprotein E gene promoter. |journal=J. Biol. Chem. |volume=276 |issue= 3 |pages= 1881–8 |year= 2001 |pmid= 11038359 |doi= 10.1074/jbc.M007008200
*cite journal | author=Koyabu Y, Nakata K, Mizugishi K, "et al." |title=Physical and functional interactions between Zic and Gli proteins. |journal=J. Biol. Chem. |volume=276 |issue= 10 |pages= 6889–92 |year= 2001 |pmid= 11238441 |doi= 10.1074/jbc.C000773200
*cite journal | author=Brown LY, Odent S, David V, "et al." |title=Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. |journal=Hum. Mol. Genet. |volume=10 |issue= 8 |pages= 791–6 |year= 2001 |pmid= 11285244 |doi=
*cite journal | author=Brown LY, Hodge SE, Johnson WG, "et al." |title=Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene. |journal=Am. J. Med. Genet. |volume=108 |issue= 2 |pages= 128–31 |year= 2002 |pmid= 11857562 |doi=
*cite journal | author=Marcorelles P, Loget P, Fallet-Bianco C, "et al." |title=Unusual variant of holoprosencephaly in monosomy 13q. |journal=Pediatr. Dev. Pathol. |volume=5 |issue= 2 |pages= 170–8 |year= 2002 |pmid= 11910512 |doi= 10.1007/s10024-001-0200-5
*cite journal | author=Herrera E, Brown L, Aruga J, "et al." |title=Zic2 patterns binocular vision by specifying the uncrossed retinal projection. |journal=Cell |volume=114 |issue= 5 |pages= 545–57 |year= 2003 |pmid= 13678579 |doi=
*cite journal | author=Dunham A, Matthews LH, Burton J, "et al." |title=The DNA sequence and analysis of human chromosome 13. |journal=Nature |volume=428 |issue= 6982 |pages= 522–8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379
*cite journal | author=Dubourg C, Lazaro L, Pasquier L, "et al." |title=Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. |journal=Hum. Mutat. |volume=24 |issue= 1 |pages= 43–51 |year= 2004 |pmid= 15221788 |doi= 10.1002/humu.20056
*cite journal | author=Brown L, Paraso M, Arkell R, Brown S |title=In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation. |journal=Hum. Mol. Genet. |volume=14 |issue= 3 |pages= 411–20 |year= 2005 |pmid= 15590697 |doi= 10.1093/hmg/ddi037
*cite journal | author=Ishiguro A, Ideta M, Mikoshiba K, "et al." |title=ZIC2-dependent transcriptional regulation is mediated by DNA-dependent protein kinase, poly(ADP-ribose) polymerase, and RNA helicase A. |journal=J. Biol. Chem. |volume=282 |issue= 13 |pages= 9983–95 |year= 2007 |pmid= 17251188 |doi= 10.1074/jbc.M610821200

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