EFHC2

Chr X

EF-hand domain containing 2

Also known as: MRX74, dJ1158H2.1

NCBI Gene: 80258 ENSG00000183690 UniProt: Q5JST6 OMIM: 300817

The protein is a microtubule inner protein component of ciliary axonemes that contains calcium-binding EF-hand motifs and is required for motile cilia beating. Mutations cause epilepsy, and the gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.15). The inheritance pattern has not been definitively established from the available data.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

OMIM 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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.15

LOEUF· LoF intol.

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Mechanism