USH1C

Chr 11p15.1

USH1 protein network component harmonin

Aliases:: PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73
MANE:: ENST00000005226.12

OMIM: 605242 ↗NCBI: 10083 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

USH1C · Q9Y6N9

v62025-08-01

Predicted Aligned Error matrix for USH1C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.4/ 100

Confident

552 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)46%
Low(50–70)4%
Very low(< 50)13%

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
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Thoracic dystrophies

Disease associations (Open Targets)

Usher syndrome type 1C
0.73
autosomal recessive nonsyndromic hearing loss 18A
0.71
Usher syndrome
0.68
Usher syndrome type 1
0.67
deafness
0.60
Retinal dystrophy
0.51
hearing loss, autosomal recessive
0.50
Usher syndrome type 2
0.48
Rare genetic deafness
0.44
retinitis pigmentosa
0.43

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

Protein function (UniProt)

Harmonin

Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018)

Curated MONDO disease pages that list USH1C among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with USH1C