Gene: ZIC2
Alternate names for this Gene: HPE5
Gene Summary: 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. Expansion of an alanine repeat in the C-terminus of the encoded protein and other 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.
Gene is located in Chromosome: 13
Location in Chromosome : 13q32.3
Description of this Gene: Zic family member 2
Type of Gene: protein-coding
rs13542 in
ZIC2 gene and
Cleft upper lip
PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
rs756225250 in
ZIC2 gene and
HOLOPROSENCEPHALY 5
PMID 15590697 2005 In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
PMID 11285244 2001 Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
PMID 19955556 2010 Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
PMID 9771712 1998 Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
PMID 19177455 2009 The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.