SLC26A2 Chromosome 5
Solute carrier family 26 member 2
Upload your DNA to see your personal genotypes for variants in SLC26A2.
What This Gene Does
The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 26
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000155850
Associated Conditions (15)
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis
type IB
Osteochondrodysplasia
Sulfate transporter-related osteochondrodysplasia
Connective tissue disorder
Inborn genetic diseases
SLC26A2-related disorder
Ovarian serous cystadenocarcinoma
broad bone-platyspondylic variant
3MC syndrome 2
De la Chapelle dysplasia
SLC26A2-related skeletal dysplasia
Key Variants
RS104893917
Conflicting classifications of pathogenicity
Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
Health Risk
RS114212275
Conflicting classifications of pathogenicity
Sulfate transporter-related osteochondrodysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Health Risk
RS114569184
Conflicting classifications of pathogenicity
Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Health Risk
RS114919633
Conflicting classifications of pathogenicity
Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Sulfate transporter-related osteochondrodysplasia
Health Risk
RS115111282
Conflicting classifications of pathogenicity
Achondrogenesis, type IB, Diastrophic dysplasia
Health Risk
RS115383424
Conflicting classifications of pathogenicity
Sulfate transporter-related osteochondrodysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Health Risk
RS115977282
Conflicting classifications of pathogenicity
Atelosteogenesis type II, Achondrogenesis, type IB
Health Risk
RS116302615
Conflicting classifications of pathogenicity
Achondrogenesis, type IB, Sulfate transporter-related osteochondrodysplasia
Health Risk
RS116443969
Conflicting classifications of pathogenicity
Achondrogenesis, type IB, Diastrophic dysplasia
Health Risk
RS116657359
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB
Health Risk
RS1179580843
Conflicting classifications of pathogenicity
Achondrogenesis, type IB, Atelosteogenesis type II
Health Risk
RS139051143
Conflicting classifications of pathogenicity
Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Health Risk
All Variants (245)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2113698511 | Health Risk | Pathogenic | Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4 |
| RS2113698529 | Health Risk | Pathogenic | — |
| RS2113698924 | Health Risk | Pathogenic | Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia |
| RS2113699112 | Health Risk | Pathogenic | Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4 |
| RS2113699208 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2113699214 | Health Risk | Pathogenic | Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4 |
| RS2113699284 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2468536125 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480770046 | Health Risk | Pathogenic | Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia, Achondrogenesis |
| RS2480770209 | Health Risk | Pathogenic | Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4 |
| RS2480770517 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480770639 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS2480770768 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480770954 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS2480771378 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480771712 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS2480774362 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480774684 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480776108 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480776192 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS2480776226 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480776768 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS2480777100 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS2480777667 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS2480778034 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS2480778039 | Health Risk | Pathogenic | Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia |
| RS2480778050 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS2480778118 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS386833492 | Health Risk | Pathogenic | Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II |
| RS386833495 | Health Risk | Pathogenic | Diastrophic dysplasia, Achondrogenesis, type IB |
| RS386833498 | Health Risk | Pathogenic | Atelosteogenesis type II, Diastrophic dysplasia, Achondrogenesis |
| RS761932822 | Health Risk | Pathogenic | Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia, Atelosteogenesis type II |
| RS767996373 | Health Risk | Pathogenic | Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4 |
| RS771098555 | Health Risk | Pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS773490671 | Health Risk | Pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS786200881 | Health Risk | Pathogenic | Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Achondrogenesis |
| RS875989951 | Health Risk | Pathogenic | Atelosteogenesis type II, Atelosteogenesis type II |
| RS104893915 | Health Risk | Pathogenic/Likely pathogenic | Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4 |
| RS104893918 | Health Risk | Pathogenic/Likely pathogenic | Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia |
| RS104893920 | Health Risk | Pathogenic/Likely pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS1057517482 | Health Risk | Pathogenic/Likely pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS1057517511 | Health Risk | Pathogenic/Likely pathogenic | Diastrophic dysplasia, Achondrogenesis, type IB |
| RS1057517524 | Health Risk | Pathogenic/Likely pathogenic | Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia |
| RS1057517530 | Health Risk | Pathogenic/Likely pathogenic | Atelosteogenesis type II, Diastrophic dysplasia, Achondrogenesis |
| RS121908077 | Health Risk | Pathogenic/Likely pathogenic | Achondrogenesis, type IB, Diastrophic dysplasia |
| RS1265764649 | Health Risk | Pathogenic/Likely pathogenic | Sulfate transporter-related osteochondrodysplasia, Achondrogenesis, type IB |
| RS1272709022 | Health Risk | Pathogenic/Likely pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS1326271684 | Health Risk | Pathogenic/Likely pathogenic | Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4 |
| RS1396120018 | Health Risk | Pathogenic/Likely pathogenic | Achondrogenesis, type IB, Atelosteogenesis type II |
| RS140041300 | Health Risk | Pathogenic/Likely pathogenic | Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4 |