TPRN Gene - Taperin
Essential for auditory hair cell function and hearing
Gene Information Card
| Symbol | TPRN |
|---|---|
| Full Name | Taperin |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 286402 ncbi.nlm.nih.gov/gene/286402 |
| Ensembl ID | ENSG00000188994 |
| UniProt ID | Q4KMZ1 |
| OMIM ID | 613237 |
| HGNC ID | 26399 |
| Aliases | C9orf75, DFNB79, bA9817.1 |
Description
The TPRN gene encodes taperin, a protein localized to the taper region of auditory hair cell stereocilia. Taperin is essential for maintaining stereocilia structure and function; loss-of-function mutations cause autosomal recessive nonsyndromic hearing loss (DFNB79).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nonsyndromic hearing loss DFNB79 | Loss of taperin disrupts stereocilia taper region integrity, leading to hair cell degeneration | OMIM #613237; ClinVar pathogenic variants |
| Autosomal recessive deafness 79 | Biallelic TPRN mutations impair actin crosslinking at stereocilia base | NCBI Gene; multiple family studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available | High (RNA) |
| Testis | 0.8 | Low |
| Brain | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Low endogenous expression |
| Hair cell lines | Not available | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1339C>T (p.Arg447*) | Nonsense | Rare | Loss of function; hearing loss |
| c.1462C>T (p.Arg488*) | Nonsense | Rare | Loss of function; hearing loss |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, leading to loss of taperin function and stereocilia degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Auditory hair cell stereocilia organization
• Actin cytoskeleton regulation
Protein Summary
Taperin is a 719-amino acid protein containing an actin-binding domain. It localizes to the taper region of stereocilia in cochlear hair cells, where it crosslinks actin filaments to maintain structural integrity. Loss of taperin leads to progressive hearing loss due to stereocilia disorganization and hair cell death.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPRN Knockout HEK293 Cell Line | EDJ-KQ15897 | Human | 286262 | Details Get a Quote |
| TPRN Knockout HCT 116 Cell Line | EDJ-KQ49119 | Human | 286262 | Details Get a Quote |
| TPRN Knockout HeLa Cell Line | EDJ-KQ49120 | Human | 286262 | Details Get a Quote |
| TPRN Knockout A-549 Cell Line | EDJ-KQ46899 | Human | 286262 | Details Get a Quote |
