PHF13

Chr 1

PHD finger protein 13

Also known as: PHF5, SPOC1

NCBI Gene: 148479 ENSG00000116273 UniProt: Q86YI8

PHF13 encodes a chromatin-binding protein that regulates chromosome condensation during mitosis and modulates DNA damage response by recruiting corepressors and histone methyltransferases. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.25), but specific disease associations and inheritance patterns have not yet been established in humans. Based on functional studies, mutations would likely affect cell division and chromatin regulation processes.

ResearchSummary from RefSeq, UniProt

Enables chromatin binding activity; chromatin-protein adaptor activity; and methylated histone binding activity. Involved in mitotic chromosome condensation and regulation of DNA repair. Located in nucleus. [provided by Alliance of Genome Resources, Apr 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)

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P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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