STRC Gene - Stereocilin
Genetic insights into hearing loss and auditory function
Gene Information Card
| Symbol | STRC |
|---|---|
| Full Name | Stereocilin |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 1615 ncbi.nlm.nih.gov/gene/1615 |
| Ensembl ID | ENSG00000158062 |
| UniProt ID | Q7RTU9 |
| OMIM ID | 606440 |
| HGNC ID | 11410 |
| Aliases | DFNB16, stereocilin |
Description
The STRC gene encodes stereocilin, a protein essential for the structural integrity of stereocilia bundles in inner ear hair cells. Mutations in STRC cause autosomal recessive nonsyndromic hearing loss (DFNB16).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB16) | Loss-of-function mutations in STRC disrupt stereocilin, impairing hair cell mechanotransduction | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Cochlea | High | Specialized expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Hair cell (inner ear) | High | Specific to stereocilia |
| HEK293 | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.400+1G>A | Splice donor | Rare | Loss of function |
| c.1234delC | Frameshift | Rare | Loss of function |
| c.2785C>T | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most STRC mutations are loss-of-function, leading to DFNB16 hearing loss.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0007605 (GO:0007605) |
| • GO:0032420 (GO:0032420) | • GO:0060088 (GO:0060088) |
Pathways
• Stereocilia organization (Reactome: R-HSA-9658195)
Protein Summary
Stereocilin is a 1775-amino acid protein localized to the stereocilia of cochlear hair cells. It forms cross-links between stereocilia, essential for mechanotransduction. Loss of stereocilin leads to disorganized stereocilia bundles and hearing loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STRC Knockout HEK293 Cell Line | EDJ-KQ4439 | Human | 161497 | Details Get a Quote |
| STRC Knockout HeLa Cell Line | EDJ-KQ58827 | Human | 161497 | Details Get a Quote |
| STRC Knockout A-549 Cell Line | EDJ-KQ67313 | Human | 161497 | Details Get a Quote |
| STRC Knockout HCT 116 Cell Line | EDJ-KQ75711 | Human | 161497 | Details Get a Quote |
