TM9SF4

Chr 20

transmembrane 9 superfamily member 4

Also known as: dJ836N17.2

NCBI Gene: 9777 ENSG00000101337 UniProt: Q92544

TM9SF4 encodes a transmembrane protein that regulates protein localization to the cell surface and controls V-ATPase complex assembly for intracellular pH regulation in the Golgi apparatus and endosomes. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Involved in several processes, including positive regulation of protein localization; response to hypoxia; and vacuolar proton-transporting V-type ATPase complex assembly. Located in Golgi apparatus and early endosome. [provided by Alliance of Genome Resources, Jun 2026]

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

0.25

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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