SLCtables

SLC10A2

Protein name: ASBT Aliases: IBAT, ISBT, NTCP2 Substrates: bile acids Transport type: Cotransporter / Na+ Tissue and cellular expression: ileum, kidney, biliary tract Subcellular expression: apical Disease: (primary bile acid malabsorption) Locus: 13q33 Sequence ID: NP_000443.1, NM_000452.2 Gene ID: 6555 Splice variants: N/D

NTCP2_HUMAN (UniProt)

Gene names: SLC10A2, ASBT, ISBT, NTCP2
Protein names and data: NTCP2_HUMAN, Full=Ileal sodium/bile acid cotransporter, Full=Apical sodium-dependent bile acid transporter;Short=ASBT;Full=Ileal Na(+)/bile acid cotransporter;Full=Ileal sodium-dependent bile acid transporter;Short=IBAT;Short=ISBT;Full=Na(+)-dependent ileal bile acid transporter;Full=Sodium/taurocholate cotransporting polypeptide, ileal;Full=Solute carrier family 10 member 2; Length: 348 a.a., Mass: 37714 Da,
fasta formatted sequence
Function: Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism
Disease: (OMIM: 601295 613291) Defects in SLC10A2 are a cause of primary bile acid malabsorption (PBAM) [MIM:613291]. PBAM is an idiopathic intestinal disorder associated with congenital diarrhea, steatorrhea, interruption of the enterohepatic circulation of bile acids, and reduced plasma cholesterol levels
Cellular location: Membrane; Multi-pass membrane protein

Database cross-references

UniProt: Q12908
NextBio: 25507
OMIM: 601295 613291
Ensembl: ENST00000245312
GeneCard: GC13M103043
TCDB: 2.A.28.1.2
PharmGenUCSF: SLC10A2
Guide to Pharmacology: SLC10A2 (960)
SLC10 family of sodium-bile acid co-transporters (960)
HGNC: HGNC:10906

Genetic variants

See also Ensembl:ENST00000245312

98 - 98 V -> I (in dbSNP:rs55971546). VAR_024837 55971546
159 - 159 V -> I (in dbSNP:rs60380298). VAR_024838 60380298
171 - 171 S -> A (in dbSNP:rs188096). VAR_004613 188096
243 - 243 L -> P (in PBAM; abolishes taurocholate transport). VAR_004614
262 - 262 T -> M (in PBAM; abolishes taurocholate transport). VAR_004615
290 - 290 P -> S (in a patient with Crohn disease; abolishes taurocholate transport; dbSNP:rs56398830). VAR_004616 56398830