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SLC10A2 solute carrier family 10 member 2 [ Homo sapiens (human) ]

Gene ID: 6555, updated on 12-Aug-2018

Summary

Official Symbol
SLC10A2provided by HGNC
Official Full Name
solute carrier family 10 member 2provided by HGNC
Primary source
HGNC:HGNC:10906
See related
Ensembl:ENSG00000125255 MIM:601295; Vega:OTTHUMG00000017313
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASBT; IBAT; ISBT; PBAM; NTCP2
Summary
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]
Expression
Biased expression in small intestine (RPKM 25.8), duodenum (RPKM 11.2) and 1 other tissue See more
Orthologs

Genomic context

See SLC10A2 in Genome Data Viewer
Location:
13q33.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (103043998..103066846, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103696348..103719196, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene BIVM-ERCC5 readthrough Neighboring gene ERCC excision repair 5, endonuclease Neighboring gene methyltransferase like 21E, pseudogene Neighboring gene uncharacterized LOC105370338 Neighboring gene uncharacterized LOC105370339

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bile acid malabsorption, primary
MedGen: C2750087 OMIM: 613291 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
NHGRI GWA Catalog
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
NHGRI GWA Catalog

Pathways from BioSystems

  • Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
    Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
  • Bile secretion, organism-specific biosystem (from KEGG)
    Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Bile secretion, conserved biosystem (from KEGG)
    Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Recycling of bile acids and salts, organism-specific biosystem (from REACTOME)
    Recycling of bile acids and salts, organism-specific biosystemOf the 20-40 grams of bile salts released daily by the liver, all but approximately 0.5 grams are reabsorbed from the intestine, returned to the liver, and re-used. This recycling involves a series o...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bile acid:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid:sodium symporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
bile acid and bile salt transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid and bile salt transport TAS
Traceable Author Statement
more info
 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
microvillus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ileal sodium/bile acid cotransporter
Names
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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016648.1 RefSeqGene

    Range
    5001..27849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000452.2NP_000443.1  ileal sodium/bile acid cotransporter

    See identical proteins and their annotated locations for NP_000443.1

    Status: REVIEWED

    Source sequence(s)
    AL161771, U10417
    Consensus CDS
    CCDS9506.1
    UniProtKB/Swiss-Prot
    Q12908
    Related
    ENSP00000245312.3, OTTHUMP00000018682, ENST00000245312.4, OTTHUMT00000045716
    Conserved Domains (1) summary
    TIGR00841
    Location:29315
    bass; bile acid transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    103043998..103066846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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