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GeneE
6 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CLRN2
clarin 2
Chromosome 4 Β· 4p15.32
NCBI Gene: 645104Ensembl: ENSG00000249581.2HGNC: HGNC:33939UniProt: A0PK11
7PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsensory perception of soundauditory receptor cell stereocilium organizationstereocilium maintenancehearing losshearing loss, autosomal recessive 117age-related hearing impairmentNon-syndromic genetic deafness
✦AI Summary

CLRN2 encodes a tetraspan protein essential for mammalian hearing function. Mechanistically, clarin-2 maintains stereocilia bundle integrity and mechano-electrical transduction in cochlear hair cells 1. While not required for initial stereocilia formation, clarin-2 is critical for preserving bundle structure and function during differentiation; its absence leads to progressive loss of transducing stereocilia and mechano-electrical transduction deficits 1. Additionally, clarin-2 regulates synaptic organization and ionic homeostasis 2, with synaptic auditory abnormalities observed in clarin-2-deficient mice 3. Clinically, biallelic CLRN2 variants cause autosomal recessive non-syndromic progressive hearing loss ranging from moderate to profound 45. CLRN2 is associated with age-related hearing impairment, identified as a genome-wide significant locus in UK Biobank analysis of over 250,000 individuals 6. Notably, clarin-1 and clarin-2 exhibit functional compensation; CLRN2 variants may exacerbate hearing loss in Usher syndrome type III (USH3) patients carrying CLRN1 mutations 2. Gene therapy using viral-mediated CLRN2 delivery effectively preserved hearing in deficient mice, with optimal outcomes when administered before stereocilia loss 3, suggesting therapeutic potential for CLRN2-associated post-lingual hearing impairment.

Sources cited
1
Clarin-2 is essential for maintaining stereocilia bundle integrity and mechano-electrical transduction; not required for initial bundle formation but critical for maintenance
PMID: 31448880
2
CLRN2 gene supplementation preserves hearing in deficient mice; prevents stereocilia loss and maintains synaptic function; gene therapy effective for post-lingual hearing impairment
PMID: 38243601
3
Clarin-1 and clarin-2 functionally compensate for each other in regulating mechano-electrical transduction and ionic homeostasis; CLRN2 variants may exacerbate USH3 hearing loss
PMID: 41572507
4
Biallelic CLRN2 variants cause autosomal recessive non-syndromic sensorineural hearing loss; CLRN2 expressed in inner ear hair cells is essential for auditory hair bundle organization
PMID: 33496845
5
CLRN2 identified as genome-wide significant locus for age-related hearing impairment in UK Biobank study of 250,000+ individuals
PMID: 31564434
6
Novel homozygous nonsense CLRN2 variant causes autosomal recessive profound hearing impairment; expands mutation spectrum for CLRN2-associated deafness
PMID: 39446282
Disease Associationsβ“˜21
hearing lossOpen Targets
0.52Moderate
hearing loss, autosomal recessive 117Open Targets
0.52Moderate
age-related hearing impairmentOpen Targets
0.49Moderate
Non-syndromic genetic deafnessOpen Targets
0.20Weak
hypertensionOpen Targets
0.19Weak
nonsyndromic genetic hearing lossOpen Targets
0.18Weak
AnisometropiaOpen Targets
0.17Weak
joint diseaseOpen Targets
0.12Weak
secondary malignant neoplasmOpen Targets
0.12Weak
schizophreniaOpen Targets
0.12Weak
infectious meningitisOpen Targets
0.11Weak
male reproductive organ cancerOpen Targets
0.11Weak
hearing loss, autosomal recessiveOpen Targets
0.10Weak
deafnessOpen Targets
0.10Weak
cervical carcinomaOpen Targets
0.10Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.10Suggestive
auditory neuropathy, autosomal dominant 3Open Targets
0.08Suggestive
autosomal recessive nonsyndromic hearing loss 1BOpen Targets
0.08Suggestive
hearing loss, autosomal dominant 88Open Targets
0.07Suggestive
hearing loss, autosomal dominant 89Open Targets
0.07Suggestive
Deafness, autosomal recessive, 117UniProt
Pathogenic Variants1
NM_001079827.2(CLRN2):c.494C>A (p.Thr165Lys)Pathogenic
Hearing loss, autosomal recessive 117
β˜†β˜†β˜†β˜†2024β†’ Residue 165
View on ClinVar β†—
Related Genes
ANKRD24Shared pathway100%TPRNShared pathway100%MYO3BShared pathway50%GRXCR2Shared pathway50%CEACAM16Shared pathway50%LHFPL3Shared pathway50%
Tissue Expression6 tissues
Lung
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CLRN2ANKRD24TPRNMYO3BGRXCR2CEACAM16LHFPL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A0PK11
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.19LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.54–1.19]
RankingsWhere CLRN2 stands among ~20K protein-coding genes
  • #17,807of 20,598
    Most Researched7
  • #5,490of 5,498
    Most Pathogenic Variants1
  • #12,500of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedCLRN2
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
PMID: 38243601
Mol Ther Β· 2024
1.00
2
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
PMID: 31448880
EMBO Mol Med Β· 2019
0.83
3
Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.
PMID: 41572507
Adv Sci (Weinh) Β· 2026
0.67
4
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
PMID: 33496845
Hum Genet Β· 2021
0.50
5
GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.
PMID: 31564434
Am J Hum Genet Β· 2019
0.33