Search for a gene
WHRN - whirlin
- Synonym(s) : CIP98, PDZD7B, USH2D
- Previous symbols and names : DFNB31, deafness, autosomal recessive 31
- Type : gene with protein product
- Chromosomal location : 9q32
- OMIM: 607928
- HGNC: 16361
- UniProtKB: Q9P202
- Genatlas: DFNB31
- GenCC: DFNB31
- Ensembl: ENSG00000095397
- IUPHAR-DB: -
- Reactome: Q9P202
- LOVD: WHRN
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHA:90636 - Disease-causing germline mutation(s) in Usher syndrome type 2
ORPHA:231178

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.