SPHKAP

Chr 2

SPHK1 interactor, AKAP domain containing

Also known as: SKIP

NCBI Gene: 80309 ENSG00000153820 UniProt: Q2M3C7

SPHKAP encodes an anchoring protein that binds to and targets protein kinase A type I to specific subcellular compartments, particularly the mitochondrion and muscle Z disc. The gene is highly constrained against loss-of-function variants (pLI=0.94, LOEUF=0.32), but no human disease phenotypes have been reported to date from SPHKAP mutations.

ResearchSummary from RefSeq, UniProt

Enables protein kinase A binding activity. Predicted to be located in Z disc. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

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

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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