Identity
HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
C9orf75,DFNB79
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 286262
MIM: 613354
HGNC: 26894
Ensembl: ENSG00000176058
Variants:
dbSNP: 286262
ClinVar: 286262
TCGA: ENSG00000176058
COSMIC: TPRN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000176058 | ENST00000333046 | H3BLU1 |
| ENSG00000176058 | ENST00000409012 | Q4KMQ1 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37952086 | 2024 | Critical role of TPRN rings in the stereocilia for hearing. | 1 |
| 37952086 | 2024 | Critical role of TPRN rings in the stereocilia for hearing. | 1 |
| 23340767 | 2013 | The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. | 2 |
| 23340767 | 2013 | The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. | 2 |
| 20170898 | 2010 | Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. | 30 |
| 20170899 | 2010 | Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. | 99 |
| 20170898 | 2010 | Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. | 30 |
| 20170899 | 2010 | Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. | 99 |
Citation
Dessen P
TPRN (taperin)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75083/tprn-(taperin)
