ZIC5

Chr 13

Zic family zinc finger 5

NCBI Gene: 85416 ENSG00000139800 UniProt: Q96T25

The ZIC5 protein is a zinc finger transcription factor essential for neural crest development, converting cells from epidermal fate to neural crest cell fate. Mutations cause autosomal dominant developmental disorders affecting neural crest-derived structures. The gene shows moderate constraint against loss-of-function variants (pLI 0.77, LOEUF 0.52), suggesting haploinsufficiency may be clinically relevant.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.52

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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