ZNF646

Chr 16

zinc finger protein 646

NCBI Gene: 9726 ENSG00000167395 UniProt: O15015

ZNF646 encodes a zinc finger transcription factor that binds DNA and regulates gene transcription in the nucleus. Mutations cause autosomal recessive intellectual disability with developmental delay. The gene is highly intolerant to loss-of-function variants (pLI nearly 1.0), indicating that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.52

LOEUF

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Mechanism

Some data sources returned errors (1)