SLC4A11 Chromosome 20
Solute carrier family 4 member 11
Upload your DNA to see your personal genotypes for variants in SLC4A11.
What This Gene Does
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Solute carrier family 4
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000088836
Associated Conditions (12)
Corneal dystrophy-perceptive deafness syndrome
Corneal dystrophy
SLC4A11-related disorder
Congenital hereditary endothelial dystrophy of cornea
Fuchs endothelial
4
Inborn genetic diseases
Posterior polymorphous corneal dystrophy 1
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Key Variants
RS112163941
Conflicting classifications of pathogenicity
Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy, SLC4A11-related disorder
Health Risk
RS117959552
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
Health Risk
RS138137682
Conflicting classifications of pathogenicity
Corneal dystrophy, Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome
Health Risk
RS138262189
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
Health Risk
RS139078082
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS139297339
Conflicting classifications of pathogenicity
Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
Health Risk
RS1396963242
Conflicting classifications of pathogenicity
Health Risk
RS139941321
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140234175
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
Health Risk
RS140461431
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
Health Risk
RS140689149
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141079217
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
Health Risk
All Variants (187)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761855363 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy |
| RS762942751 | Health Risk | Conflicting classifications of pathogenicity | Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy |
| RS766711908 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS770217478 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS773078769 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS778455666 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Fuchs endothelial, 4 |
| RS780171125 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS78274653 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, SLC4A11-related disorder |
| RS78860240 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, SLC4A11-related disorder |
| RS886056632 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS121909396 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy |
| RS1233324021 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy |
| RS1233772105 | Health Risk | Likely pathogenic | — |
| RS1295194870 | Health Risk | Likely pathogenic | — |
| RS1298347142 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome |
| RS1422526172 | Health Risk | Likely pathogenic | Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea |
| RS1430176022 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome |
| RS1568528185 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy |
| RS201771042 | Health Risk | Likely pathogenic | — |
| RS2067638831 | Health Risk | Likely pathogenic | — |
| RS2067654837 | Health Risk | Likely pathogenic | Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy, Fuchs endothelial |
| RS2067710234 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome |
| RS2067739784 | Health Risk | Likely pathogenic | — |
| RS2067769305 | Health Risk | Likely pathogenic | — |
| RS2122542952 | Health Risk | Likely pathogenic | — |
| RS2122548698 | Health Risk | Likely pathogenic | — |
| RS2122554995 | Health Risk | Likely pathogenic | — |
| RS2514503723 | Health Risk | Likely pathogenic | Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea |
| RS2514516494 | Health Risk | Likely pathogenic | — |
| RS2514518620 | Health Risk | Likely pathogenic | — |
| RS2514532541 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Ovarian serous cystadenocarcinoma, Corneal dystrophy-perceptive deafness syndrome |
| RS2514550586 | Health Risk | Likely pathogenic | — |
| RS2514561147 | Health Risk | Likely pathogenic | — |
| RS2514563055 | Health Risk | Likely pathogenic | — |
| RS2514570481 | Health Risk | Likely pathogenic | Corneal dystrophy, Fuchs endothelial, 4 |
| RS267607064 | Health Risk | Likely pathogenic | Corneal dystrophy, Fuchs endothelial, 4 |
| RS750656470 | Health Risk | Likely pathogenic | Corneal dystrophy, Fuchs endothelial, 4 |
| RS760203945 | Health Risk | Likely pathogenic | — |
| RS766567944 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy |
| RS767919855 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome |
| RS775805131 | Health Risk | Likely pathogenic | — |
| RS778053947 | Health Risk | Likely pathogenic | Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome |
| RS1169567113 | Health Risk | Pathogenic | — |
| RS1178297876 | Health Risk | Pathogenic | — |
| RS1191074716 | Health Risk | Pathogenic | Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy, Fuchs endothelial |
| RS121909387 | Health Risk | Pathogenic | Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea |
| RS121909388 | Health Risk | Pathogenic | Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea |
| RS121909389 | Health Risk | Pathogenic | Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy, Congenital hereditary endothelial dystrophy of cornea |
| RS121909390 | Health Risk | Pathogenic | Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy |
| RS121909391 | Health Risk | Pathogenic | Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea |