SEZ6L2

Chr 16

seizure related 6 homolog like 2

Also known as: BSRPA, PSK-1

NCBI Gene: 26470 ENSG00000174938 UniProt: Q6UXD5

The protein contributes to specialized endoplasmic reticulum functions in neurons and is localized on the cell surface. Mutations in this gene cause neurodevelopmental disorders with autism spectrum features, with the gene located in the chromosome 16p11.2 region associated with autism spectrum disorders. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.42), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

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

0.42

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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