STOML2

Chr 9

stomatin like 2

Also known as: HSPC108, SLP-2

NCBI Gene: 30968 ENSG00000165283 UniProt: Q9UJZ1 OMIM: 608292

The STOML2 protein regulates mitochondrial biogenesis and organization, stimulates cardiolipin biosynthesis, and plays roles in calcium homeostasis, T-cell activation, and cellular stress responses. Mutations cause autosomal recessive mitochondrial disorders affecting multiple systems including immune function and cellular energy metabolism. This gene is moderately constrained against loss-of-function variants, suggesting that complete loss of protein function is not well tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Enables GTPase binding activity; T cell receptor binding activity; and cardiolipin binding activity. Involved in intracellular calcium ion homeostasis; mitochondrion organization; and protein complex oligomerization. Acts upstream of or within T cell receptor signaling pathway. Located in several cellular components, including immunological synapse; membrane raft; and mitochondrial envelope. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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