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SLC26A2

Chr 5q32

solute carrier family 26 member 2

Aliases:
DTDST
MANE:
ENST00000286298.5
OMIM: 606718 ↗NCBI: 1836 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Limb disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Multiple Epiphyseal Dysplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • multiple epiphyseal dysplasia type 4

    0.82

  • atelosteogenesis type II

    0.81

  • Achondrogenesis type 1B

    0.80

  • achondrogenesis type IB

    0.79

  • diastrophic dysplasia

    0.78

  • osteochondrodysplasia

    0.66

  • Diastrophic dwarfism

    0.66

  • multiple epiphyseal dysplasia

    0.56

  • sulfate transporter-related osteochondrodysplasia

    0.54

  • Joubert syndrome and related disorders

    0.53

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sulfate transporter

Sulfate transporter which mediates sulfate uptake into chondrocytes in order to maintain adequate sulfation of proteoglycans which is needed for cartilage development (PubMed:11448940, PubMed:15294877, PubMed:20219950, PubMed:7923357). Mediates electroneutral anion exchange of sulfate ions for oxalate ions and of sulfate and oxalate ions for chloride ions (PubMed:20219950). Mediates exchange of sulfate and oxalate ions for hydroxyl ions and of chloride ions for bromide, iodide and nitrate ions (By similarity). The coupling of sulfate transport to both hydroxyl and chloride ions likely serves to ensure transport at both acidic pH when most sulfate uptake is mediated by sulfate-hydroxide exchange and alkaline pH when most sulfate uptake is mediated by sulfate-chloride exchange (By similarity). Essential for chondrocyte proliferation, differentiation and cell size expansion (By similarity)

Diseases associated with SLC26A2

Curated MONDO disease pages that list SLC26A2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.