STOML3
Stomatin Like 3
Gene Information Card
| Symbol | STOML3 |
|---|---|
| Full Name | Stomatin Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 161003 ncbi.nlm.nih.gov/gene/161003 |
| Ensembl ID | ENSG00000133116 |
| UniProt ID | Q8N2U9 |
| OMIM ID | 608327 |
| HGNC ID | 30797 |
| Aliases | SRO, STOML3, stomatin-like protein 3 |
Description
STOML3 (Stomatin Like 3) is a protein-coding gene that encodes a member of the stomatin family of integral membrane proteins. The protein is involved in mechanotransduction, particularly in sensory neurons, where it modulates the activity of mechanosensitive ion channels. STOML3 is expressed in various tissues, including the nervous system, and plays a role in touch sensation and pain perception.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary sensory and autonomic neuropathy type I (HSAN1) | Mutations in STOML3 may disrupt mechanotransduction in sensory neurons, leading to peripheral neuropathy. | ClinVar |
| Pain perception disorders | Altered STOML3 expression or function affects mechanosensitive ion channels, contributing to abnormal pain sensitivity. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 10.2 | Medium |
| Testis | 8.9 | Low |
| Lung | 6.3 | Low |
| Heart | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal cell line; high expression |
| HEK293 | 3.2 | Low expression |
| HeLa | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Likely loss of function; associated with neuropathy |
| c.418G>A (p.Gly140Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce STOML3 protein stability or disrupt its interaction with mechanosensitive channels, impairing mechanotransduction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mechanosensory behavior | • protein homooligomerization |
| • plasma membrane | • integral component of membrane |
| • sensory perception of touch |
Pathways
• Mechanotransduction
• Stomatin complex assembly
Protein Summary
STOML3 is a 299-amino acid protein with a stomatin domain and a proline-rich region. It localizes to the plasma membrane and forms oligomers. The protein interacts with Piezo2 and other mechanosensitive channels to modulate their activity, essential for normal touch and pain sensation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STOML3 Knockout HEK293 Cell Line | EDJ-KQ14768 | Human | 161003 | 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 |
| STOML3 Knockout HCT 116 Cell Line | EDJ-KQ75703 | Human | 161003 | Details Get a Quote |
