CLIP2

Chr 7

CAP-Gly domain containing linker protein 2

Also known as: CLIP, CLIP-115, CYLN2, WBSCR3, WBSCR4, WSCR3, WSCR4

NCBI Gene: 7461 ENSG00000106665 UniProt: Q9UDT6

The protein links microtubules to dendritic lamellar bodies, specialized membranous organelles in neurons that are involved in brain-specific organelle transport. CLIP2 is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by contiguous gene deletions at 7q11.23. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), suggesting that haploinsufficiency may contribute to the neurodevelopmental features observed in Williams syndrome.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

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

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted

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