DIAPH2

Chr X

diaphanous related formin 2

Also known as: DIA, DIA2, DRF2, POF, POF2, POF2A

NCBI Gene: 1730 ENSG00000147202 UniProt: O60879

This gene encodes a formin family protein that regulates actin cytoskeleton dynamics and endosome motility, and may function in oogenesis. Mutations cause premature ovarian failure 2A with X-linked dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.28), suggesting intolerance to protein disruption.

ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPremature ovarian failure 2A

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

0.28

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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