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. 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]

Full Name

ZIC2

Function

Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3'. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos.

Biological Process

Biological Process brain development Source:ProtInc1 Publication
Biological Process cell differentiation Source:UniProtKB-KW
Biological Process central nervous system development Source:GO_Central1 Publication
Biological Process negative regulation of DNA-templated transcription Source:UniProtKB
Biological Process positive regulation of DNA-binding transcription factor activity Source:UniProtKB
Biological Process positive regulation of DNA-templated transcription Source:UniProtKB
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process visual perception Source:UniProtKB

Cellular Location

Nucleus
Cytoplasm
Localizes in the cytoplasm in presence of MDFIC overexpression. Both phosphorylated and unphosphorylated forms are localized in the nucleus (By similarity).

Involvement in disease

Holoprosencephaly 5 (HPE5):
A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.

PTM

Phosphorylated.
Ubiquitinated by RNF180, leading to its degradation.