PACSIN2

Chr 22

protein kinase C and casein kinase substrate in neurons 2

Also known as: SDPII

NCBI Gene: 11252 ENSG00000100266 UniProt: Q9UNF0 OMIM: 604960

The encoded protein regulates caveolae morphogenesis and endocytosis, promotes membrane tubulation, and is essential for endothelial organization during angiogenesis. Mutations in PACSIN2 cause autosomal recessive early-onset epileptic encephalopathy with developmental delay and intellectual disability. The gene shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.45

LOEUF

Mechanism· predicted