TMPRSS3

Chr 21q22.3

transmembrane serine protease 3

MANE:: ENST00000644384.2

OMIM: 605511 ↗NCBI: 64699 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TMPRSS3 · P57727

v62025-08-01

Predicted Aligned Error matrix for TMPRSS3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.6/ 100

Confident

454 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)16%
Low(50–70)7%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.73
nonsyndromic genetic hearing loss
0.59
deafness
0.58
hearing loss disorder
0.57
Rare genetic deafness
0.53
Hearing impairment
0.52
Sensorineural hearing impairment
0.46
hereditary disease
0.42
Non-syndromic genetic deafness
0.38
presbycusis
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transmembrane protease serine 3

Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro)

Curated MONDO disease pages that list TMPRSS3 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with TMPRSS3