TSPAN9

Chr 12

tetraspanin 9

Also known as: NET-5, NET5, PP1057

NCBI Gene: 10867 ENSG00000011105 UniProt: O75954

The encoded protein is a tetraspanin family member that mediates signal transduction events regulating cell development, activation, growth and motility through its four transmembrane domains. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.519), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]

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)

—

P/LP submissions

—

P/LP missense

0.52

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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