ZNF250

Chr 8

zinc finger protein 250

Also known as: ZFP647, ZNF647

NCBI Gene: 58500 ENSG00000196150 UniProt: P15622

ZNF250 encodes a zinc finger transcription factor that binds to specific DNA sequences and regulates gene transcription by RNA polymerase II in the nucleus. The gene is highly constrained against loss-of-function variants (LOEUF 0.499), suggesting mutations would likely cause severe developmental disorders, though specific disease associations have not yet been established. An inheritance pattern has not been determined for ZNF250-related disorders.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429