PRDM14

Chr 8

PR/SET domain 14

Also known as: PFM11

NCBI Gene: 63978 ENSG00000147596 UniProt: Q9GZV8

The protein is a transcription factor that maintains embryonic stem cell identity and pluripotency by regulating the expression of differentiation and pluripotency genes, including direct upregulation of POU5F1. Mutations cause autosomal recessive primary ovarian insufficiency and disorders of sex development affecting gonadal function. The gene shows moderate constraint against loss-of-function variants, reflecting its specialized role in germ cell development and reproductive function.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]

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

0.60

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429