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

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; AllianceGenome:HGNC:10906
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; PBAM1
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: mouse all
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Genomic context

Location:: 13q33.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (103043998..103066417, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (102262214..102284623, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (103696348..103718767, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of apical sodium bile acid transporter alters bile acid circulation and reduces biliary damage in cholangitis.
Title: Loss of apical sodium bile acid transporter alters bile acid circulation and reduces biliary damage in cholangitis.
Placental Expression of Bile Acid Transporters in Intrahepatic Cholestasis of Pregnancy.
Title: Placental Expression of Bile Acid Transporters in Intrahepatic Cholestasis of Pregnancy.
A Novel Fluorescence-Based Method to Evaluate Ileal Apical Sodium-Dependent Bile Acid Transporter ASBT.
Title: A Novel Fluorescence-Based Method to Evaluate Ileal Apical Sodium-Dependent Bile Acid Transporter ASBT.
S-acylation status of bile acid transporter hASBT regulates its function, metabolic stability, membrane expression, and phosphorylation state.
Title: S-acylation status of bile acid transporter hASBT regulates its function, metabolic stability, membrane expression, and phosphorylation state.
Efficient SNP editing in haploid human pluripotent stem cells.
Title: Efficient SNP editing in haploid human pluripotent stem cells.
S-acylation modulates the function of the apical sodium-dependent bile acid transporter in human cells.
Title: S-acylation modulates the function of the apical sodium-dependent bile acid transporter in human cells.
Results found that, in obesity, intestinal bile acid absorption is increased secondary to increased expression of apical bile acid cotransporter, ASBT, in the brush border membrane of villus cells. The mechanism of stimulation of ASBT expression is likely secondary to increased expression of FXR in these cells.
Title: Mechanism of Dyslipidemia in Obesity-Unique Regulation of Ileal Villus Cell Brush Border Membrane Sodium-Bile Acid Cotransport.
Study data confirms that tyrosine phosphorylation mediated by Src family kinases (SFKs), in particular, regulates surface expression, function, and stability of hASBT.
Title: Tyrosine Phosphorylation Regulates Plasma Membrane Expression and Stability of the Human Bile Acid Transporter ASBT (SLC10A2).
A cysteine-less form of hASBT was made by creating point mutations at all 13 endogenous cysteines. Cysless hASBT had significantly reduced function correlated with lowered surface expression.Chemical cross-linking of wild-type and Cysless species revealed that hASBT has a dominant negative effect and exists as an active dimer and/or higher order oligomer with apparently no requirement for endogenous cysteine residues.
Title: Human bile acid transporter ASBT (SLC10A2) forms functional non-covalent homodimers and higher order oligomers.
Two single-nucleotide polymorphisms at novel loci, rs112404845 (P = 3.8 x 10-8), upstream of COBL, and rs16961023 (P = 4.6 x 10-8), downstream of SLC10A2, obtained genome-wide significant evidence of association with the posterior liability of late-onset Alzheimer's disease in African Americans.
Title: Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bile acid malabsorption, primary, 1 MedGen: C5561934 OMIM: 613291 GeneReviews: Not available	Compare labs

EBI 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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98835 (e-PCR)
- UniSTS:86576

RH70986 (e-PCR)
- UniSTS:3214

99-62677 (e-PCR)
- UniSTS:240837

RH93919 (e-PCR)
- UniSTS:85196

SLC10A2_737 (e-PCR)
- UniSTS:277715

SLC10A2_V91 (e-PCR)
- UniSTS:277715

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bile acid:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables bile acid:sodium symporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bile acid and bile salt transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in bile acid and bile salt transport	TAS Traceable Author Statement more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in microvillus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ileal sodium/bile acid cotransporter

Names: Na(+)-dependent ileal bile acid transporter; Na+/taurocholate cotransporting polypeptide 2; ileal apical sodium-dependent bile acid transporter; ileal 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)

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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

NG_016648.2 RefSeqGene

Range

5000..27419

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000452.3 → NP_000443.2 ileal sodium/bile acid cotransporter

Status: REVIEWED

Source sequence(s)

AL161771

Consensus CDS

CCDS9506.1

UniProtKB/Swiss-Prot

A1L4F4, Q12908, Q13839

Related

ENSP00000245312.3, ENST00000245312.5

Conserved Domains (1) summary

TIGR00841
Location:29 → 315

bass; bile acid transporter