ZIC2 : Zic family member 2

Description

The ZIC2 (Zic family member 2) is a protein-coding gene located on chromosome 13.

The ZIC2 gene provides instructions for making a protein that plays an important role in the development of the front part of the brain (forebrain). This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. The ZIC2 protein regulates genes involved in both early and late stages of forebrain development.

ZIC2 acts as a transcription factor, regulating gene expression in both activating and repressing manners. It plays a crucial role in the early stages of central nervous system (CNS) development. Specifically, ZIC2 activates the transcription of the serotonin transporter (SERT) in uncrossed ipsilateral retinal ganglion cells (iRGCs), contributing to the refinement of eye-specific projections in primary visual targets. ZIC2's transcriptional activity is regulated by MDFIC, which acts as a repressor. ZIC2 is further involved in the formation of the ipsilateral retinal projection at the optic chiasm midline and drives the expression of EPHB1 on ipsilaterally projecting growth cones. ZIC2 binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' and associates with the basal SERT promoter region in ventrotemporal retinal segments of retinal embryos.

ZIC2 is also known as HPE5.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing