STOML2

Stomatin-like protein 2: a mitochondrial inner membrane protein involved in mitochondrial biogenesis, lipid metabolism, and cancer progression

Gene Information Card

Symbol STOML2
Full Name stomatin like 2
Gene Type protein-coding
Chromosomal Location 9p13.3
NCBI Gene ID 30968 ncbi.nlm.nih.gov/gene/30968
Ensembl ID ENSG00000136869
UniProt ID Q9UJZ1
OMIM ID 608327
HGNC ID 11403
Aliases SLP-2, HSPC108, STOML-2

Description

STOML2 (stomatin like 2) encodes a member of the stomatin family of integral membrane proteins. The protein localizes to the inner mitochondrial membrane and is involved in mitochondrial biogenesis, lipid metabolism, and the regulation of mitochondrial membrane potential. It plays a role in cell proliferation, apoptosis, and has been implicated in various cancers, including breast, lung, and colorectal cancer. STOML2 interacts with cardiolipin and other mitochondrial proteins to support cristae organization and respiratory chain assembly.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Overexpression promotes proliferation and metastasis via PI3K/Akt pathway PMID: 25605247
Lung adenocarcinoma Upregulation correlates with poor prognosis and increased invasion PMID: 27323851
Colorectal cancer High expression associated with tumor progression and chemoresistance PMID: 28411373
Hepatocellular carcinoma STOML2 knockdown reduces cell growth and induces apoptosis PMID: 29323333
Prostate cancer Elevated expression linked to aggressive disease and metastasis PMID: 30589844

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 27.8 High
Skeletal muscle 24.5 High
Liver 18.2 Medium
Kidney 15.6 Medium
Brain 10.3 Low
Lung 12.1 Medium
Colon 14.7 Medium
Breast 9.8 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 22.5 Cervical cancer cell line
MCF7 19.3 Breast cancer cell line
A549 21.1 Lung cancer cell line
HepG2 18.7 Hepatocellular carcinoma cell line
HEK293 16.4 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.374C>T (p.Thr125Met) Missense <0.01% (gnomAD) Unknown functional impact
c.521A>G (p.Asn174Ser) Missense <0.01% (gnomAD) Unknown functional impact
c.68_69insG (p.Leu23fs) Frameshift Rare Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., p.Leu23fs) are predicted to cause premature truncation and loss of protein function, potentially impairing mitochondrial integrity.

Gain of Function (GOF)

No well-characterized gain-of-function mutations reported in STOML2.

Dominant Negative (DN)

No evidence for dominant-negative effects in STOML2.

Pathways

• Mitochondrial biogenesis (Reactome: R-HSA-1592230)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Cardiolipin biosynthesis (Reactome: R-HSA-1483196)
• PI3K/Akt signaling (KEGG: hsa04151)

Protein Summary

STOML2 is a 356-amino acid protein (UniProt Q9UJZ1) with a molecular weight of approximately 38.5 kDa. It contains a stomatin-like domain and a transmembrane region that anchors it to the inner mitochondrial membrane. The protein forms oligomers and interacts with cardiolipin to stabilize mitochondrial cristae. It also binds to subunits of the respiratory chain complexes, facilitating their assembly and activity. STOML2 is widely expressed in metabolically active tissues such as heart and skeletal muscle, and its overexpression in cancers suggests a role in promoting cell survival and proliferation.

Related Products

Product name Cat.No. Species Gene ID
STOML2 Knockout HEK293 Cell Line EDJ-KQ9194 Human 30968 Details Get a Quote
STOML2 Knockout A-549 Cell Line EDJ-KQ35749 Human 30968 Details Get a Quote
STOML2 Knockout HCT 116 Cell Line EDJ-KQ35750 Human 30968 Details Get a Quote
STOML2 Knockout HeLa Cell Line EDJ-KQ35751 Human 30968 Details Get a Quote
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