TM9SF2

Chr 13

transmembrane 9 superfamily member 2

Also known as: Lnc-PCIR, P76

NCBI Gene: 9375 ENSG00000125304 UniProt: Q99805

The protein functions as a channel or small molecule transporter in intracellular compartments, particularly localizing to early endosomes. Mutations cause autosomal recessive intellectual disability with behavioral abnormalities and craniofacial dysmorphism. This gene is highly constrained against loss-of-function variants, suggesting complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.08

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)