Homo sapiens Gene: SLC10A2
Summary
InnateDB Gene IDBG-49420.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC10A2
Gene Name solute carrier family 10 (sodium/bile acid cotransporter family), member 2
Synonyms ASBT; IBAT; ISBT; NTCP2; PBAM
Species Homo sapiens
Ensembl Gene ENSG00000125255
Encoded Proteins
solute carrier family 10 (sodium/bile acid cotransporter family), member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:103043998-103066846
Strand Reverse strand
Band q33.1
Transcripts
ENST00000245312 ENSP00000245312
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008508 bile acid:sodium symporter activity
Biological Process
GO:0006810 transport
GO:0006814 sodium ion transport
GO:0008206 bile acid metabolic process
GO:0015711 organic anion transport
GO:0015721 bile acid and bile salt transport
GO:0044281 small molecule metabolic process
GO:0055085 transmembrane transport
Cellular Component
GO:0000502 proteasome complex
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005902 microvillus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Recycling of bile acids and salts pathway
Transmembrane transport of small molecules pathway
Metabolism of lipids and lipoproteins pathway
Bile acid and bile salt metabolism pathway
Orphan transporters pathway
Metabolism pathway
KEGG
Bile secretion pathway
INOH
PID NCI
Cross-References
SwissProt Q12908
TrEMBL
UniProt Splice Variant
Entrez Gene 6555
UniGene Hs.194783
RefSeq NM_000452
HUGO HGNC:10906
OMIM 601295
CCDS CCDS9506
HPRD
IMGT
EMBL AE014294 AL161771 BC130521 BC130523 CH471085 U10417 U67669 U67670 U67671 U67672 U67673 U67674 Z54350
GenPept AAC51870 AAC95398 AAI30522 AAI30524 AAN16026 CAA91161 CAC39447 EAX09074
RNA Seq Atlas 6555