SLC26A2: Solute Carrier Family 26 Member 2
Sulfate transporter associated with skeletal dysplasias and chondrodysplasias
Gene Information Card
| Symbol | SLC26A2 |
|---|---|
| Full Name | Solute carrier family 26 member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 1836 ncbi.nlm.nih.gov/gene/1836 |
| Ensembl ID | ENSG00000155850 |
| UniProt ID | P50443 |
| OMIM ID | 606718 |
| HGNC ID | 10994 |
| Aliases | DTDST, DTD, MST153, MSTP157 |
Description
SLC26A2 (solute carrier family 26 member 2) encodes a transmembrane sulfate transporter that mediates sulfate uptake into cells, essential for proteoglycan sulfation in cartilage and other tissues. Mutations in this gene cause a spectrum of autosomal recessive skeletal dysplasias, including achondrogenesis type 1B, atelosteogenesis type 2, and diastrophic dysplasia. The gene is also known as DTDST (diastrophic dysplasia sulfate transporter).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Achondrogenesis type 1B | Loss-of-function mutations impair sulfate transport, leading to severe under-sulfation of proteoglycans and lethal skeletal dysplasia | ClinVar, OMIM #600972 |
| Atelosteogenesis type 2 | Mutations reduce sulfate uptake, causing defective endochondral ossification and severe short-limbed dwarfism | ClinVar, OMIM #256050 |
| Diastrophic dysplasia | Missense or splice-site mutations result in partial loss of sulfate transport, leading to progressive skeletal deformities | ClinVar, OMIM #222600 |
| Multiple epiphyseal dysplasia (recessive form) | Compound heterozygous mutations cause mild to moderate skeletal abnormalities | ClinVar, OMIM #226900 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Placenta | 5.4 | Low |
| Pancreas | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 15.2 | High expression |
| Fibroblasts | 7.8 | Moderate expression |
| HEK293 | 4.5 | Low expression |
| HeLa | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1957T>A (p.Cys653Ser) | Missense | Common in Finnish population | Reduced sulfate transport activity |
| c.862C>T (p.Arg288Trp) | Missense | Found in diastrophic dysplasia | Partial loss of function |
| c.1184T>C (p.Leu395Pro) | Missense | Rare | Severe loss of function |
| c.1263+1G>A | Splice donor | Associated with achondrogenesis type 1B | Null allele |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations cause partial or complete loss of sulfate transport activity, leading to under-sulfation of proteoglycans.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • secondary active sulfate transmembrane transporter activity (GO:0008271) | • sulfate transmembrane transporter activity (GO:0015116) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • cation transport (GO:0006812) | • sulfate transport (GO:0008272) |
| • transmembrane transport (GO:0055085) |
Pathways
• Sulfate transport (Reactome: R-HSA-428542)
• Chondroitin sulfate/dermatan sulfate metabolism (Reactome: R-HSA-1793185)
• Glycosaminoglycan metabolism (Reactome: R-HSA-1630316)
Protein Summary
The SLC26A2 protein (UniProt P50443) is a 739-amino-acid transmembrane sulfate transporter localized to the plasma membrane. It functions as a sodium-independent sulfate/chloride antiporter, facilitating sulfate uptake into cells for proteoglycan sulfation. The protein contains 12 transmembrane domains and is highly expressed in cartilage, where it is critical for normal skeletal development. Defects in this transporter lead to reduced intracellular sulfate levels, impairing sulfation of proteoglycans such as aggrecan, resulting in the skeletal dysplasia phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC26A2 Knockout HEK293 Cell Line | EDJ-KQ2573 | Human | 1836 | Details Get a Quote |
| SLC26A2 Knockout HCT 116 Cell Line | EDJ-KQ21886 | Human | 1836 | Details Get a Quote |
| SLC26A2 Knockout A-549 Cell Line | EDJ-KQ23255 | Human | 1836 | Details Get a Quote |
| SLC26A2 Knockout HeLa Cell Line | EDJ-KQ23256 | Human | 1836 | Details Get a Quote |
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