PHF14

Chr 7

PHD finger protein 14

NCBI Gene: 9678 ENSG00000106443 UniProt: O94880

The protein binds to histones and regulates gene expression by modulating histone modifications, particularly repressing PDGFRA and CDKN1A/p21 expression to control mesenchymal cell proliferation and germinal center B cell proliferation. PHF14 mutations cause neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows autosomal dominant inheritance and is highly constrained against loss-of-function variants (LOEUF 0.395).

ResearchSummary from RefSeq, UniProt

Enables histone binding activity. Predicted to be involved in several processes, including germinal center B cell differentiation; negative regulation of mesenchymal cell proliferation involved in lung development; and negative regulation of platelet-derived growth factor receptor-alpha signaling pathway. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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

0.40

LOEUF

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Mechanism

Some data sources returned errors (1)

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