ZIC2

Zic family member 2 (odd-paired homolog, Drosophila)
Identifiers
Symbols	ZIC2 ; HPE5
External IDs	Template:OMIM5 Template:MGI HomoloGene: 5171
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE ZIC2 gnf1h00103 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Zic family member 2 (odd-paired homolog, Drosophila), also known as ZIC2, is a human gene.

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.

Further reading

• Brown S, Gersen S, Anyane-Yeboa K, Warburton D (1993). "Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature". Am. J. Med. Genet. 45 (1): 52–9. doi:10.1002/ajmg.1320450115. PMID 8418661.CS1 maint: Multiple names: authors list (link)
• Aruga J, Nagai T, Tokuyama T; et al. (1996). "The mouse zic gene family. Homologues of the Drosophila pair-rule gene odd-paired". J. Biol. Chem. 271 (2): 1043–7. PMID 8557628.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brown SA, Warburton D, Brown LY; et al. (1998). "Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired". Nat. Genet. 20 (2): 180–3. doi:10.1038/2484. PMID 9771712.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yang Y, Hwang CK, Junn E; et al. (2001). "ZIC2 and Sp3 repress Sp1-induced activation of the human D1A dopamine receptor gene". J. Biol. Chem. 275 (49): 38863–9. doi:10.1074/jbc.M007906200. PMID 10984499.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Salero E, Pérez-Sen R, Aruga J; et al. (2001). "Transcription factors Zic1 and Zic2 bind and transactivate the apolipoprotein E gene promoter". J. Biol. Chem. 276 (3): 1881–8. doi:10.1074/jbc.M007008200. PMID 11038359.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Koyabu Y, Nakata K, Mizugishi K; et al. (2001). "Physical and functional interactions between Zic and Gli proteins". J. Biol. Chem. 276 (10): 6889–92. doi:10.1074/jbc.C000773200. PMID 11238441.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brown LY, Odent S, David V; et al. (2001). "Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination". Hum. Mol. Genet. 10 (8): 791–6. PMID 11285244.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brown LY, Hodge SE, Johnson WG; et al. (2002). "Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene". Am. J. Med. Genet. 108 (2): 128–31. PMID 11857562.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marcorelles P, Loget P, Fallet-Bianco C; et al. (2002). "Unusual variant of holoprosencephaly in monosomy 13q". Pediatr. Dev. Pathol. 5 (2): 170–8. doi:10.1007/s10024-001-0200-5. PMID 11910512.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Herrera E, Brown L, Aruga J; et al. (2003). "Zic2 patterns binocular vision by specifying the uncrossed retinal projection". Cell. 114 (5): 545–57. PMID 13678579.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dunham A, Matthews LH, Burton J; et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMID 15057823.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dubourg C, Lazaro L, Pasquier L; et al. (2004). "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations". Hum. Mutat. 24 (1): 43–51. doi:10.1002/humu.20056. PMID 15221788.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brown L, Paraso M, Arkell R, Brown S (2005). "In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation". Hum. Mol. Genet. 14 (3): 411–20. doi:10.1093/hmg/ddi037. PMID 15590697.CS1 maint: Multiple names: authors list (link)
• Ishiguro A, Ideta M, Mikoshiba K; et al. (2007). "ZIC2-dependent transcriptional regulation is mediated by DNA-dependent protein kinase, poly(ADP-ribose) polymerase, and RNA helicase A.". J. Biol. Chem. 282 (13): 9983–95. doi:10.1074/jbc.M610821200. PMID 17251188.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)