{"symbol":"ZIC2","synonyms":["HPE5"],"name":"Zic family member 2","description":"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. [provided by RefSeq, Jul 2016]","ncbiEntrezGeneId":7546,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7546","proteins":[{"symbol":"ZIC2_HUMAN","href":"/api/1.0/protein/ZIC2_HUMAN"}],"hgncRootFamilies":[{"name":"Zinc fingers","href":"/api/1.0/gene_family/Zinc+fingers"}]}