PRDM10

Chr 11

PR/SET domain 10

Also known as: BHD2, PFM7, TRIS

NCBI Gene: 56980 ENSG00000170325 UniProt: Q9NQV6

PRDM10 encodes a transcription factor containing C2H2-type zinc fingers that activates gene expression, including translation initiation factor EIF3B and filamin C (FLNC), and is essential for early embryonic development and embryonic stem cell survival. Mutations cause Birt-Hogg-Dubé syndrome 2 with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.366), consistent with its essential role in early development and central nervous system formation.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBirt-Hogg-Dube syndrome 2

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

0.37

LOEUF

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Mechanism

Some data sources returned errors (1)

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