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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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Microglial cells, Astrocytes, Muller glia cells, Cone photoreceptor cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (AF22, HDLM-2, HEK93, NTERA-2, SCLC-21H)

Interaction

Interacts with RNF180. Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5); the interaction reduces its transcriptional activity. Interacts with GLI1 and GLI2 (By similarity). Interacts (via C2H2-type domain 3) with DHX9 (PubMed:17251188).

Molecular function

Activator, Developmental protein, DNA-binding, Repressor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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