Disease-gene associations mined from literature

Literature associating ZIC2 and holoprosencephaly 7

ZIC2 [ENSP00000365514]

Zinc finger protein of the cerebellum 2; 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; Belongs to the GLI C2H2-type zinc-finger protein family.

Synonyms:  ZIC2,  ZIC2p,  hZIC2,  A0A024RDY6,  O95409 ...

Linkouts:  STRING  Pharos  UniProt  OMIM