QuickView for SLC10A2 (gene)

Gene Symbol:

SLC10A2 Homo sapiens

Full name:

solute carrier family 10 member 2

Synonyms:

ASBT, IBAT, ISBT, NTCP2, PBAM, ileal sodium/bile acid cotransporter, Na(+)-dependent ileal bile acid transporter, ileal apical sodium-dependent bile acid transporter, ileal sodium-dependent bile acid transporter, sodium/taurocholate cotransporting polypeptide, ileal, solute carrier family 10 (sodium/bile acid cotransporter family), member 2, solute carrier family 10 (sodium/bile acid cotransporter), member 2

Genomic Location:

Chr 13: 102494351-102517197

Description:

This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorpt...

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This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Danio rerio ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGANTCA_AP1_C ,  TTANTCA_UNKNOWN ,  YATGNWAAT_OCT_C ,  IPF1_Q4 ,  TTTNNANAGCYR_UNKNOWN ,  PBX1_01 ,  OCT_C ,  RFX1_02 ,  GATA6_01 ,  ER_Q6_01 ,  AACTTT_UNKNOWN ,  ER_Q6 ,  TCF1P_Q6

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Cytogenetic Map:

13q33.1

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