ZIC2
Domain
The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Ubiquitinated by RNF180, leading to its degradation.
Sequence Similarities
Belongs to the GLI C2H2-type zinc-finger protein family.
Cellular localization
- Nucleus
- Cytoplasm
- Localizes in the cytoplasm in presence of MDFIC overexpression. Both phosphorylated and unphosphorylated forms are localized in the nucleus (By similarity).
Alternative names
Zinc finger protein ZIC 2, Zinc finger protein of the cerebellum 2, ZIC2