ZNF142

Chr 2AR

zinc finger protein 142

Also known as: HA4654, NEDISHM, pHZ-49

NCBI Gene: 7701 ENSG00000115568 UniProt: P52746 OMIM: 604083

The protein is a transcriptional regulator containing 31 C2H2-type zinc fingers from the Kruppel family. Biallelic mutations cause a neurodevelopmental disorder with impaired speech and hyperkinetic movements, inherited in an autosomal recessive pattern. The gene shows relatively low constraint to loss-of-function variants.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with impaired speech and hyperkinetic movementsMIM #618425

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.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

0.79

LOEUF

LOF

Mechanism· G2P