TPRN

Chr 9q34.3

taperin

Aliases:: FLJ90254
MANE:: ENST00000409012.6

OMIM: 613354 ↗NCBI: 286262 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TPRN · Q4KMQ1

v62025-08-01

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

Mean pLDDT

54.4/ 100

Low

711 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)18%
Low(50–70)28%
Very low(< 50)52%

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
0.69
deafness
0.50
Rare genetic deafness
0.46
Non-syndromic genetic deafness
0.38
hearing loss disorder
0.37
nonsyndromic genetic hearing loss
0.37
Abnormality of the ear
0.28
ear malformation
0.27
hereditary disease
0.19
Hearing impairment
0.12

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

Protein function (UniProt)

Taperin

Essential for hearing (By similarity). Required for maintenance of stereocilia on both inner and outer hair cells (By similarity). Necessary for the integrity of the stereociliary rootlet (By similarity). May act as an actin cytoskeleton regulator involved in the regulation of actin dynamics at the pointed end in hair cells (By similarity). Forms rings at the base of stereocilia and binds actin filaments in the stereocilia which may stabilize the stereocilia (By similarity). Acts as a strong inhibitor of PPP1CA phosphatase activity (PubMed:23213405). Recruited to sites of DNA damage and may play a role in DNA damage repair (PubMed:23213405)