AlphaFold predicted structure
WHRN · Q9P202
Mean pLDDT
58.4/ 100
Low
907 residues
Confidence breakdown
- Very high(≥ 90)8%
- Confident(70–90)36%
- Low(50–70)8%
- Very low(< 50)48%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
WHRN
Chr 9q32whirlin
- Aliases:
- CIP98, USH2D, PDZD7B
- MANE:
- ENST00000362057.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
BIALLELIC, autosomal or pseudoautosomalThoracic dystrophies
Disease associations (Open Targets)
Usher syndrome type 2D
0.71autosomal recessive nonsyndromic hearing loss 31
0.67Usher syndrome
0.66hearing loss, autosomal recessive
0.59Usher syndrome type 2
0.51deafness
0.50Rare genetic deafness
0.44hearing loss disorder
0.38eye disorder
0.37type 2 diabetes mellitus
0.31
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Whirlin
Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport
Diseases associated with WHRN
Curated MONDO disease pages that list WHRN among their top associated genes.