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SLC10A2

Chr 13q33.1

solute carrier family 10 member 2

Aliases:
NTCP2, IBAT
MANE:
ENST00000245312.5
OMIM: 601295 ↗NCBI: 6555 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intestinal failure or congenital diarrhoea

    BIALLELIC, autosomal or pseudoautosomal

  • Neonatal cholestasis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • bile acid malabsorption, primary, 1

    0.66

  • Alagille syndrome

    0.57

  • Pruritus

    0.57

  • cholelithiasis

    0.56

  • gallstones

    0.54

  • progressive familial intrahepatic cholestasis

    0.53

  • Constipation

    0.49

  • intrahepatic cholestasis

    0.48

  • gout

    0.38

  • familial intrahepatic cholestasis

    0.37

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

Protein function (UniProt)

Ileal sodium/bile acid cotransporter

Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine (PubMed:7592981, PubMed:9458785, PubMed:9856990). Transports various bile acids, unconjugated or conjugated, such as cholate and taurocholate (PubMed:7592981, PubMed:9458785, PubMed:9856990). Also responsible for bile acid transport in the renal proximal tubules, a salvage mechanism that helps conserve bile acids (Probable). Works collaboratively with the Na(+)-taurocholate cotransporting polypeptide (NTCP), the organic solute transporter (OST), and the bile salt export pump (BSEP), to ensure efficacious biological recycling of bile acids during enterohepatic circulation (PubMed:33222321)

Diseases associated with SLC10A2

Curated MONDO disease pages that list SLC10A2 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.