ZNF174

Chr 16

zinc finger protein 174

Also known as: ZSCAN8

NCBI Gene: 7727 ENSG00000103343 UniProt: Q15697 OMIM: 603900

This protein functions as a transcriptional repressor containing three zinc fingers and a SCAN domain that enables homodimer formation. The gene shows low constraint against loss-of-function variants (pLI 0.01, LOEUF 0.71), and no definitive human disease associations have been established for ZNF174 mutations. Further research is needed to determine if variants in this gene cause pediatric neurological conditions.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.70

LOEUF

Mechanism· predicted