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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TMPRSS5
transmembrane serine protease 5
Chromosome 11 · 11q23.2
NCBI Gene: 80975Ensembl: ENSG00000166682.13HGNC: HGNC:14908UniProt: B7Z247
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranepeptidase activityproteolysisserine-type peptidase activitydermatophytosisAbnormality of movementprostate carcinomatinea unguium
✦AI Summary

TMPRSS5 (transmembrane serine protease 5) is a serine-type peptidase localized to the plasma membrane that may play important roles in hearing and peripheral nerve function. In the inner ear, TMPRSS5 is expressed in spiral ganglion neurons and has been implicated in auditory function through genetic studies; mutations in TMPRSS5 show reduced or absent proteolytic activity and are associated with nonsyndromic hearing loss 1. Beyond auditory function, TMPRSS5 serves as a novel Schwann cell-specific biomarker. The protein is most highly expressed in Schwann cells of peripheral nerve and is elevated 2.07-fold in plasma of Charcot-Marie-Tooth disease type 1A (CMT1A) patients compared to controls, demonstrating early myelination deficits specific to this form of peripheral neuropathy 2. TMPRSS5 elevation correlates with Schwann cell-associated microRNAs in CMT1A and provides disease specificity not observed in other CMT subtypes 3. The protein also serves as a candidate biomarker for CMT1A in clinical trials 4. Genetically, TMPRSS5 shows causal associations with ischemic stroke risk across diverse populations, with genetically predicted elevated plasma levels associated with increased stroke risk 56. Additionally, common variants in TMPRSS5 are associated with age-related nuclear cataract, suggesting roles in maintaining lens integrity 7. TMPRSS5 represents a potentially novel therapeutic target for stroke and peripheral neuropathies.

Sources cited
1
TMPRSS5 is expressed in spiral ganglion neurons of the inner ear, shows plasma membrane localization, and mutations cause reduced/absent proteolytic activity associated with hearing loss
PMID: 17918732
2
TMPRSS5 is elevated 2.07-fold in CMT1A patient plasma, is Schwann cell-specific, and represents the first Schwann cell-specific biomarker for CMT1A
PMID: 31833243
3
TMPRSS5 protein levels in CMT1A plasma correlate with Schwann cell-associated microRNAs, supporting Schwann cell involvement
PMID: 34031204
4
TMPRSS5 is identified as a candidate biomarker for Charcot-Marie-Tooth disease type 1A through phenome-wide analysis of CNVs
PMID: 41639462
5
Genetic associations with TMPRSS5 plasma levels show causal effects on stroke outcomes in Mendelian randomization
PMID: 36253349
6
Genetically predicted elevated TMPRSS5 plasma levels are positively associated with ischemic stroke risk across East Asians and Europeans, with no current drug targets identified
PMID: 40304040
7
Common variant in TMPRSS5 (rs4936279) is associated with age-related nuclear cataract
PMID: 33311586
8
TMPRSS5 is identified as a Schwann cell-specific protein biomarker in peripheral neuropathy
PMID: 35611606
Disease Associationsⓘ20
dermatophytosisOpen Targets
0.41Moderate
Abnormality of movementOpen Targets
0.34Weak
prostate carcinomaOpen Targets
0.33Weak
tinea unguiumOpen Targets
0.33Weak
essential tremorOpen Targets
0.32Weak
dermatomycosisOpen Targets
0.30Weak
dysthymic disorderOpen Targets
0.29Weak
major depressive disorderOpen Targets
0.29Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
neuropathyOpen Targets
0.26Weak
Age-related nuclear cataractOpen Targets
0.20Weak
chronic obstructive pulmonary diseaseOpen Targets
0.17Weak
cannabis dependenceOpen Targets
0.15Weak
senile cataractOpen Targets
0.14Weak
neurotic disorderOpen Targets
0.14Weak
Visual impairmentOpen Targets
0.14Weak
Addictive alcohol useOpen Targets
0.14Weak
substance-related disorderOpen Targets
0.14Weak
alcohol dependenceOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MIPEPShared pathway100%TMPRSS15Shared pathway100%PRSS50Shared pathway100%PRSS22Shared pathway100%MMEL1Shared pathway100%TMPRSS11FShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
34%
Liver
29%
Ovary
24%
Lung
15%
Heart
12%
Gene Interaction Network
Click a node to explore
TMPRSS5MIPEPTMPRSS15PRSS50PRSS22MMEL1TMPRSS11F
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q0P513
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.03 [0.81–1.32]
RankingsWhere TMPRSS5 stands among ~20K protein-coding genes
  • #16,608of 20,598
    Most Researched12
  • #13,861of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedTMPRSS5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Systematic Mendelian randomization using the human plasma proteome to discover potential therapeutic targets for stroke.
PMID: 36253349
Nat Commun · 2022
1.00
2
Proteome-Wide Genetic Study in East Asians and Europeans Identified Multiple Therapeutic Targets for Ischemic Stroke.
PMID: 40304040
Stroke · 2025
0.90
3
Blood biomarkers of peripheral neuropathy.
PMID: 35611606
Acta Neurol Scand · 2022
0.80
4
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
PMID: 31833243
Ann Clin Transl Neurol · 2020
0.70
5
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
PMID: 17918732
Hum Mutat · 2008
0.60