ZNF462

Chr 9AD

zinc finger protein 462

Also known as: WSKA, ZFPIP, Zfp462

NCBI Gene: 58499 ENSG00000148143 UniProt: Q96JM2 OMIM: 617371

This zinc finger transcription factor regulates chromatin structure and controls key developmental genes including SOX2, POU5F1/OCT4, and NANOG, while also regulating neuronal development and neural cell differentiation. Mutations cause Weiss-Kruszka syndrome, an autosomal dominant developmental disorder with intellectual disability, distinctive facial features, and growth abnormalities. The gene is extremely intolerant to loss-of-function variation (pLI >0.99, LOEUF 0.085), indicating that functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Weiss-Kruszka syndromeMIM #618619

Clinical highlights

Gene-disease validity (ClinGen)

Weiss-Kruszka syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.09

LOEUF· LoF intol.

LOF

Mechanism· G2P