CLDN14 Chromosome 21
Claudin 14
Upload your DNA to see your personal genotypes for variants in CLDN14.
What This Gene Does
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Claudins
Locus Type
gene with protein product
Location
21q22.13
Ensembl
ENSG00000159261
Associated Conditions (8)
Vein of Galen aneurysmal malformation
Autosomal recessive nonsyndromic hearing loss 29
CLDN14-related disorder
Monogenic hearing loss
Sensorineural hearing loss disorder
Hearing impairment
Hearing loss
autosomal recessive
Key Variants
RS138631461
association
Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
Health Risk
RS139437157
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, CLDN14-related disorder, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
RS139628442
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, CLDN14-related disorder, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
RS140918123
Conflicting classifications of pathogenicity
CLDN14-related disorder, CLDN14-related disorder
Health Risk
RS143797113
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, Monogenic hearing loss, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
RS148223897
Conflicting classifications of pathogenicity
Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
Health Risk
RS149733854
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
RS150731625
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
RS199523516
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
RS368231049
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
RS387907417
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
RS537529014
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138631461 | Health Risk | association | Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation |
| RS139437157 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, CLDN14-related disorder, Autosomal recessive nonsyndromic hearing loss 29 |
| RS139628442 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, CLDN14-related disorder, Autosomal recessive nonsyndromic hearing loss 29 |
| RS140918123 | Health Risk | Conflicting classifications of pathogenicity | CLDN14-related disorder, CLDN14-related disorder |
| RS143797113 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Monogenic hearing loss, Autosomal recessive nonsyndromic hearing loss 29 |
| RS148223897 | Health Risk | Conflicting classifications of pathogenicity | Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation |
| RS149733854 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS150731625 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS199523516 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS368231049 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS387907417 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS537529014 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS577393948 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727504989 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74315438 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS746102559 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS763085148 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS763846537 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS764548516 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS779699092 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS142846225 | Health Risk | Likely pathogenic | — |
| RS1555841710 | Health Risk | Likely pathogenic | — |
| RS1568839335 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS2517046858 | Health Risk | Likely pathogenic | — |
| RS1265168989 | Health Risk | Pathogenic | — |
| RS2146412304 | Health Risk | Pathogenic | Sensorineural hearing loss disorder, Sensorineural hearing loss disorder |
| RS2535027337 | Health Risk | Pathogenic | — |
| RS371100799 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 29, CLDN14-related disorder, Autosomal recessive nonsyndromic hearing loss 29 |
| RS74315437 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 29, Hearing impairment, Hearing loss |
| RS786200885 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS1273842424 | Health Risk | Pathogenic/Likely pathogenic | Hearing impairment, Autosomal recessive nonsyndromic hearing loss 29, Hearing impairment |
| RS368027306 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 29, Hearing impairment, CLDN14-related disorder |
| RS786204841 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |