SLC26A3 Chromosome 7
Solute carrier family 26 member 3
Upload your DNA to see your personal genotypes for variants in SLC26A3.
What This Gene Does
The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Solute carrier family 26
Locus Type
gene with protein product
Location
7q22.3-q31.1
Ensembl
ENSG00000091138
Associated Conditions (13)
Congenital secretory diarrhea
chloride type
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Hepatocellular carcinoma
Lung cancer
SLC26A3-related disorder
Polyhydramnios
Hydrops fetalis
Intestinal obstruction
Gastrointestinal obstruction
Key Variants
RS1228273365
Conflicting classifications of pathogenicity
Health Risk
RS145962719
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Inborn genetic diseases
Health Risk
RS150004100
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Inborn genetic diseases
Health Risk
RS150724234
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1793940326
Conflicting classifications of pathogenicity
Health Risk
RS188437289
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea
Health Risk
RS200385882
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea
Health Risk
RS200735098
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea
Health Risk
RS201220816
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Thyroid cancer
Health Risk
RS202020458
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea
Health Risk
RS367700437
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea
Health Risk
RS367754347
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea
Health Risk
All Variants (119)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS386833484 | Health Risk | Likely pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833488 | Health Risk | Likely pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833489 | Health Risk | Likely pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS755589533 | Health Risk | Likely pathogenic | — |
| RS764591347 | Health Risk | Likely pathogenic | — |
| RS775664534 | Health Risk | Likely pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS780815307 | Health Risk | Likely pathogenic | — |
| RS1018933248 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS1171640656 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS1208952914 | Health Risk | Pathogenic | Polyhydramnios, Hydrops fetalis, Intestinal obstruction |
| RS121913030 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS121913032 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS121913033 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS1232510324 | Health Risk | Pathogenic | — |
| RS1264217866 | Health Risk | Pathogenic | SLC26A3-related disorder, Congenital secretory diarrhea, chloride type |
| RS1365470411 | Health Risk | Pathogenic | — |
| RS138002384 | Health Risk | Pathogenic | — |
| RS1395417660 | Health Risk | Pathogenic | — |
| RS1409334094 | Health Risk | Pathogenic | — |
| RS1489629664 | Health Risk | Pathogenic | — |
| RS1794241080 | Health Risk | Pathogenic | — |
| RS1794303992 | Health Risk | Pathogenic | — |
| RS2115827317 | Health Risk | Pathogenic | — |
| RS2115832531 | Health Risk | Pathogenic | — |
| RS2535451617 | Health Risk | Pathogenic | — |
| RS2535454664 | Health Risk | Pathogenic | — |
| RS2535454681 | Health Risk | Pathogenic | — |
| RS2535454710 | Health Risk | Pathogenic | — |
| RS2535454764 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS2535456352 | Health Risk | Pathogenic | SLC26A3-related disorder, SLC26A3-related disorder |
| RS2535458383 | Health Risk | Pathogenic | — |
| RS2535458490 | Health Risk | Pathogenic | — |
| RS2535462703 | Health Risk | Pathogenic | — |
| RS2535463398 | Health Risk | Pathogenic | — |
| RS2535463519 | Health Risk | Pathogenic | — |
| RS2535468195 | Health Risk | Pathogenic | — |
| RS2535468277 | Health Risk | Pathogenic | — |
| RS2535471415 | Health Risk | Pathogenic | — |
| RS2535474668 | Health Risk | Pathogenic | — |
| RS2535477061 | Health Risk | Pathogenic | — |
| RS2535478074 | Health Risk | Pathogenic | — |
| RS2535478160 | Health Risk | Pathogenic | — |
| RS386833447 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833448 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833453 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833465 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833468 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833471 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833473 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS386833476 | Health Risk | Pathogenic | Congenital secretory diarrhea, chloride type, Intestinal obstruction |