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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TPRN
taperin
Chromosome 9 Β· 9q34.3
NCBI Gene: 286262Ensembl: ENSG00000176058.14HGNC: HGNC:26894UniProt: Q4KMQ1
39PubMed Papers
21Diseases
0Drugs
32Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sensory perception of soundprotein serine/threonine phosphatase inhibitor activityprotein bindingprotein phosphatase 1 bindinghearing loss, autosomal recessivedeafnessRare genetic deafnesshearing loss
✦AI Summary

Taperin (TPRN) is a critical actin-bundling protein essential for maintaining hearing and stereocilia integrity in inner ear hair cells. Structurally, TPRN localizes to the stereocilia base and taper region where it forms concentric rings with binding partners CLIC5 and PTPRQ 1. The protein functions as a specialized F-actin bundler that cross-links actin filaments into flexible bundles, with this bundling capacity residing in the N-terminal region 2. By stabilizing the stereociliary rootlet structure and connecting the F-actin core to the plasma membrane via PTPRQ interaction, TPRN enables optimal pivot point flexibility necessary for sound-induced deflections 2. Tprn-deficient mice exhibit progressive deafness with characteristic stereocilia degeneration, warped rootlets, and loss of associated proteins (TRIOBP-5, ANKRD24, and radixin) 23. Mutations in TPRN cause autosomal recessive nonsyndromic hearing loss (DFNB79), with identified frameshift mutations producing severe-to-profound or progressive hearing loss phenotypes 45. Significantly, restoration of TPRN ring architecture via AAV-mediated gene therapy effectively rescues auditory function in knockout mice, establishing a therapeutic strategy for TPRN mutation-related deafness 1.

Sources cited
1
TPRN bundles F-actin at stereocilia bases, forms rings, and maintains stereociliary rootlet integrity for sound-induced deflections
PMID: 40471101
2
TPRN forms concentric rings with CLIC5 and PTPRQ; ring disruption causes hearing loss; AAV-mediated TPRN expression restores hearing
PMID: 37952086
3
Tprn-null mice show progressive stereocilia degeneration, rootlet abnormalities, and decreased radixin/Ξ²-actin expression
PMID: 30159668
4
TPRN mutations (c.42_52del, c.1347delG) in DFNB79 locus cause autosomal-recessive nonsyndromic hearing loss; protein has actin-capping homology
PMID: 20170898
5
Same TPRN mutation (c.42_52del11) can cause variable hearing loss phenotypes including progressive hearing loss
PMID: 23340767
Disease Associationsβ“˜21
hearing loss, autosomal recessiveOpen Targets
0.68Moderate
deafnessOpen Targets
0.50Moderate
Rare genetic deafnessOpen Targets
0.46Moderate
hearing lossOpen Targets
0.37Weak
Non-syndromic genetic deafnessOpen Targets
0.37Weak
nonsyndromic genetic hearing lossOpen Targets
0.37Weak
Abnormality of the earOpen Targets
0.27Weak
ear malformationOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
Hearing impairmentOpen Targets
0.12Weak
Menstrual disorderOpen Targets
0.07Suggestive
benign adult familial myoclonic epilepsyOpen Targets
0.06Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.06Suggestive
hearing loss, autosomal dominant 87Open Targets
0.05Suggestive
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's crampOpen Targets
0.04Suggestive
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.02Suggestive
nonsyndromic deafnessOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
Deafness, autosomal recessive, 79UniProt
Pathogenic Variants32
NM_001128228.3(TPRN):c.1031del (p.Pro344fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 79|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 344
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 79|not provided|TPRN-related disorder|Rare genetic deafness
β˜…β˜…β˜†β˜†2025β†’ Residue 76
NM_001128228.3(TPRN):c.1240C>T (p.Gln414Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 414
NM_001128228.3(TPRN):c.225_235dup (p.Leu79fs)Pathogenic
Ear malformation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 79
NM_001128228.3(TPRN):c.107del (p.Gly36fs)Pathogenic
not provided|Rare genetic deafness
β˜…β˜…β˜†β˜†2024β†’ Residue 36
NM_001128228.3(TPRN):c.943dup (p.Leu315fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 79|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 315
NM_001128228.3(TPRN):c.412del (p.Glu138fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 79
β˜…β˜†β˜†β˜†2025β†’ Residue 138
NM_001128228.3(TPRN):c.473del (p.Pro158fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 158
NM_001128228.3(TPRN):c.1041dup (p.Arg348fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 348
NM_001128228.3(TPRN):c.650del (p.Gly217fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 79
β˜…β˜†β˜†β˜†2025β†’ Residue 217
NM_001128228.3(TPRN):c.679del (p.Ala227fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 227
NM_001128228.3(TPRN):c.440_444dup (p.Arg149fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_001128228.3(TPRN):c.1525_1532del (p.Pro509fs)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 79
β˜…β˜†β˜†β˜†2024β†’ Residue 509
NM_001128228.3(TPRN):c.547del (p.Arg183fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 183
NM_001128228.3(TPRN):c.503_521del (p.Arg168fs)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 79
β˜…β˜†β˜†β˜†2023β†’ Residue 168
NM_001128228.3(TPRN):c.789del (p.Ser264fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 264
NM_001128228.3(TPRN):c.349C>T (p.Gln117Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 117
NM_001128228.3(TPRN):c.505_542del (p.Pro169fs)Likely pathogenic
Rare genetic deafness
β˜…β˜†β˜†β˜†2022β†’ Residue 169
NM_001128228.3(TPRN):c.25del (p.Ser9fs)Likely pathogenic
Rare genetic deafness
β˜…β˜†β˜†β˜†2022β†’ Residue 9
NM_001128228.3(TPRN):c.440_444del (p.Arg147fs)Likely pathogenic
Rare genetic deafness
β˜…β˜†β˜†β˜†2022β†’ Residue 147
View on ClinVar β†—
Related Genes
ANKRD24Shared pathway100%CLRN2Shared pathway100%EPB41L1Protein interaction100%MSNProtein interaction100%MYH9Protein interaction100%MYO1CProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
59%
Lung
29%
Ovary
27%
Bone Marrow
24%
Heart
17%
Gene Interaction Network
Click a node to explore
TPRNANKRD24CLRN2EPB41L1MSNMYH9MYO1C
PROTEIN STRUCTURE
Preparing viewer…
PDB6Y9Q Β· 1.31 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.62–1.10]
RankingsWhere TPRN stands among ~20K protein-coding genes
  • #10,408of 20,598
    Most Researched39
  • #1,763of 5,498
    Most Pathogenic Variants32
  • #11,210of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedTPRN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.
PMID: 40471101
J Cell Biol Β· 2025
1.00
2
Critical role of TPRN rings in the stereocilia for hearing.
PMID: 37952086
Mol Ther Β· 2024
0.90
3
Proteogenomic analysis of air-pollution-associated lung cancer reveals prevention and therapeutic opportunities.
PMID: 39432560
Elife Β· 2024
0.80
4
The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
PMID: 23340767
Biochem Genet Β· 2013
0.70
5
pH-Responsive Charge-Reversal Smart Nanoparticles for Co-Delivery of Mitoxantrone and Copper Ions to Enhance Breast Cancer Chemo-Chemodynamic Combination Therapy.
PMID: 39530107
Int J Nanomedicine Β· 2024
0.60