Description: Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. RefSeq Summary (NM_000452): 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). [provided by RefSeq, Mar 2010]. Transcript (Including UTRs) Position: hg19 chr13:103,696,348-103,719,196 Size: 22,849 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr13:103,698,483-103,718,599 Size: 20,117 Coding Exon Count: 6
ID:NTCP2_HUMAN DESCRIPTION: RecName: Full=Ileal sodium/bile acid cotransporter; AltName: Full=Apical sodium-dependent bile acid transporter; Short=ASBT; AltName: Full=Ileal Na(+)/bile acid cotransporter; AltName: Full=Ileal sodium-dependent bile acid transporter; Short=IBAT; Short=ISBT; AltName: Full=Na(+)-dependent ileal bile acid transporter; AltName: Full=Sodium/taurocholate cotransporting polypeptide, ileal; AltName: Full=Solute carrier family 10 member 2; 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. SUBUNIT: Monomer and homodimer. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. DISEASE: 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. SIMILARITY: Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.
Blood Pressure Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
[PubMed 17903302]
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
Body Weights and Measures Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01758 - Sodium Bile acid symporter family
ModBase Predicted Comparative 3D Structure on Q12908
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
