SLC26A5 Chromosome 7
Solute carrier family 26 member 5
Upload your DNA to see your personal genotypes for variants in SLC26A5.
What This Gene Does
This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Solute carrier family 26
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000170615
Associated Conditions (3)
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 61
SLC26A5-related disorder
Key Variants
RS139393039
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144115730
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144150940
Conflicting classifications of pathogenicity
Health Risk
RS146547672
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61
Health Risk
RS148538056
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148546326
Conflicting classifications of pathogenicity
Inborn genetic diseases, SLC26A5-related disorder, Inborn genetic diseases
Health Risk
RS150726851
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS727504456
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS745378351
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 61, SLC26A5-related disorder, Inborn genetic diseases
Health Risk
RS753273893
Conflicting classifications of pathogenicity
Health Risk
RS762004358
Conflicting classifications of pathogenicity
Health Risk
RS764308981
Conflicting classifications of pathogenicity
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139393039 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144115730 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144150940 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146547672 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61 |
| RS148538056 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148546326 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SLC26A5-related disorder, Inborn genetic diseases |
| RS150726851 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS727504456 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745378351 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 61, SLC26A5-related disorder, Inborn genetic diseases |
| RS753273893 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762004358 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764308981 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770314412 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1427114724 | Health Risk | Likely pathogenic | — |
| RS1563529062 | Health Risk | Likely pathogenic | — |
| RS187694846 | Health Risk | Likely pathogenic | — |
| RS2485141190 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61 |
| RS2485154768 | Health Risk | Likely pathogenic | — |
| RS2485167934 | Health Risk | Likely pathogenic | — |
| RS2485399712 | Health Risk | Likely pathogenic | — |
| RS775034495 | Health Risk | Likely pathogenic | — |
| RS1407713091 | Health Risk | Pathogenic | — |
| RS1824180998 | Health Risk | Pathogenic | — |
| RS2116727279 | Health Risk | Pathogenic | — |
| RS2485468089 | Health Risk | Pathogenic | — |
| RS431905517 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61 |
| RS431905518 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61 |
| RS757994723 | Health Risk | Pathogenic | — |
| RS770663172 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61 |
| RS781516548 | Health Risk | Pathogenic | — |
| RS956448140 | Health Risk | Pathogenic | — |