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

Gene ID: 6555, updated on 28-Jun-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (103043998..103066417, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bile acid malabsorption, primary
MedGen: C2750087 OMIM: 613291 GeneReviews: Not available
Compare labs

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 PubChem

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
 
response to bacterium IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_000452.3NP_000443.2  ileal sodium/bile acid cotransporter

    Status: REVIEWED

    Source sequence(s)
    AL161771
    Consensus CDS
    CCDS9506.1
    Related
    ENSP00000245312.3, ENST00000245312.5
    Conserved Domains (1) summary
    TIGR00841
    Location:29315
    bass; bile acid transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    103043998..103066417 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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