ZIC2

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]

Description

Zic family member 2

Tissue specificity

Group enriched (brain, choroid plexus)

Subcell location

Nuclear bodies

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Transcription factors

Chromosome

13 (99981784 - 99986765)

Ensembl ID

ENSG00000043355  (ver. 103.38)

Orthologs

Mouse Zic2: ENSMUSG00000061524

UniProt

O95409

neXtProt

NX_O95409

Human splice variants
Mouse splice variants

Protein structure