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.
View complete mutation data:
Gene Ontology (GO)
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 Services
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 |