STOM Gene (Stomatin)
Stomatin: A Key Regulator of Ion Channel Function and Red Cell Membrane Integrity
Gene Information Card
| Symbol | STOM |
|---|---|
| Full Name | Stomatin |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 2040 ncbi.nlm.nih.gov/gene/2040 |
| Ensembl ID | ENSG00000148175 |
| UniProt ID | P27105 |
| OMIM ID | 185020 |
| HGNC ID | 11303 |
| Aliases | EPB72, BND7, SLP-1, stomatin |
Description
The STOM gene encodes stomatin, a 31-kDa integral membrane protein originally identified in red blood cells. Stomatin is a member of the prohibitin/stomatin family and is involved in the regulation of ion channel activity, particularly mechanosensitive and volume-regulated channels. It plays a critical role in maintaining red cell membrane stability and cation homeostasis. Mutations in STOM are associated with overhydrated hereditary stomatocytosis (DHS), a rare hemolytic anemia characterized by increased red cell cation permeability and stomatocytic morphology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Overhydrated hereditary stomatocytosis (DHS) | Loss-of-function mutations in STOM lead to increased passive cation permeability of the erythrocyte membrane, resulting in cell swelling and hemolysis. | OMIM #185020; ClinVar; multiple case reports |
| Hemolytic anemia | STOM mutations cause stomatocytosis with hemolysis due to membrane cation leak. | OMIM #185020 |
| Cancer (various) | Stomatin is dysregulated in several cancers; may influence cell proliferation and migration via ion channel modulation. | COSMIC; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood (whole blood) | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Spleen | 6.1 | Low |
| Lung | 4.3 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HEK 293 (embryonic kidney) | 8.7 | Moderate |
| HeLa (cervical cancer) | 6.4 | Low |
| HepG2 (liver cancer) | 5.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.392G>A (p.Arg131Gln) | Missense | Rare | Loss of function; associated with DHS |
| c.430C>T (p.Arg144Trp) | Missense | Rare | Loss of function; associated with DHS |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with DHS |
| c.3G>A (p.Met1Ile) | Start loss | Rare | Loss of function; associated with DHS |
Mutation functional classification
Loss of Function (LOF)
Most STOM mutations are loss-of-function, leading to reduced or absent stomatin protein, causing increased red cell cation permeability and hemolytic anemia (DHS).
Gain of Function (GOF)
No gain-of-function mutations reported in STOM.
Dominant Negative (DN)
No dominant-negative mutations reported; DHS is typically autosomal dominant with haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ion channel regulation (mechanosensitive channels)
• Erythrocyte membrane integrity
• Volume-regulated anion channel (VRAC) activity
Protein Summary
Stomatin is a 31-kDa integral membrane protein predominantly expressed in erythrocytes and other tissues. It localizes to the plasma membrane and lipid rafts, where it modulates the activity of ion channels, including mechanosensitive and volume-regulated anion channels. Stomatin is essential for normal red cell cation homeostasis; its deficiency leads to overhydrated hereditary stomatocytosis (DHS), a rare autosomal dominant hemolytic anemia. The protein also interacts with the cytoskeleton and may play roles in cell signaling and cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STOM Knockout HEK293 Cell Line | EDJ-KQ4535 | Human | 2040 | Details Get a Quote |
| STOML1 Knockout HEK293 Cell Line | EDJ-KQ6573 | Human | 9399 | Details Get a Quote |
| STOML2 Knockout HEK293 Cell Line | EDJ-KQ9194 | Human | 30968 | Details Get a Quote |
| STOML3 Knockout HEK293 Cell Line | EDJ-KQ14768 | Human | 161003 | Details Get a Quote |
| STOM Knockout A-549 Cell Line | EDJ-KQ27155 | Human | 2040 | Details Get a Quote |
| STOM Knockout HeLa Cell Line | EDJ-KQ27157 | Human | 2040 | Details Get a Quote |
| STOM Knockout HCT 116 Cell Line | EDJ-KQ25895 | Human | 2040 | Details Get a Quote |
| STOML1 Knockout A-549 Cell Line | EDJ-KQ30781 | Human | 9399 | Details Get a Quote |
| STOML1 Knockout HCT 116 Cell Line | EDJ-KQ30782 | Human | 9399 | Details Get a Quote |
| STOML1 Knockout HeLa Cell Line | EDJ-KQ30783 | Human | 9399 | 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 |
| STOML3 Knockout HeLa Cell Line | EDJ-KQ58819 | Human | 161003 | Details Get a Quote |
| STOML3 Knockout A-549 Cell Line | EDJ-KQ67303 | Human | 161003 | Details Get a Quote |
