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Aliases for SLC10A2 Gene

Aliases for SLC10A2 Gene

  • Solute Carrier Family 10 Member 2 2 3 4 5
  • Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter), Member 2 2 3
  • Sodium/Taurocholate Cotransporting Polypeptide, Ileal 3 4
  • Ileal Sodium-Dependent Bile Acid Transporter 3 4
  • Na(+)-Dependent Ileal Bile Acid Transporter 3 4
  • NTCP2 3 4
  • ASBT 3 4
  • ISBT 3 4
  • IBAT 3 4
  • Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter Family), Member 2 3
  • Ileal Apical Sodium-Dependent Bile Acid Transporter 3
  • Apical Sodium-Dependent Bile Acid Transporter 4
  • Ileal Sodium/Bile Acid Cotransporter 3
  • Ileal Na(+)/Bile Acid Cotransporter 4
  • PBAM 3

External Ids for SLC10A2 Gene

Previous HGNC Symbols for SLC10A2 Gene

  • ASBT
  • ISBT

Previous GeneCards Identifiers for SLC10A2 Gene

  • GC13M102056
  • GC13M098083
  • GC13M102532
  • GC13M101394
  • GC13M102494
  • GC13M103696
  • GC13M084288

Summaries for SLC10A2 Gene

Entrez Gene Summary for SLC10A2 Gene

  • 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]

GeneCards Summary for SLC10A2 Gene

SLC10A2 (Solute Carrier Family 10 Member 2) is a Protein Coding gene. Diseases associated with SLC10A2 include Bile Acid Malabsorption, Primary and Steatorrhea. Among its related pathways are Metabolism and Bile secretion. Gene Ontology (GO) annotations related to this gene include bile acid:sodium symporter activity. An important paralog of this gene is SLC10A6.

UniProtKB/Swiss-Prot for SLC10A2 Gene

  • 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.

Gene Wiki entry for SLC10A2 Gene

Additional gene information for SLC10A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC10A2 Gene

Genomics for SLC10A2 Gene

GeneHancer (GH) Regulatory Elements for SLC10A2 Gene

Promoters and enhancers for SLC10A2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I103066 Promoter/Enhancer 1.2 EPDnew ENCODE 550.8 -0.7 -728 3.1 CTCF RFX1 SMAD1 NFIB EBF1 DPF2 BMI1 BATF ATF2 IRF4 SLC10A2 GC13M103135
GH13I103029 Enhancer 0.8 ENCODE 11.6 +35.8 35753 2.5 PKNOX1 BMI1 BATF KLF5 IRF4 ZNF207 ATF7 BCLAF1 IKZF2 RUNX3 SLC10A2 METTL21EP GC13P102940
GH13I102909 Enhancer 0.5 ENCODE 10.3 +155.3 155293 3.4 JUND ATF3 HNF4G HNF4A REST YY1 SLC10A2 ENSG00000278445 GC13P102940
GH13I103100 Enhancer 0.2 ENCODE 10.9 -34.0 -34010 0.1 SLC10A2 GC13M103135
GH13I103101 Enhancer 0.2 ENCODE 10.8 -35.2 -35220 0.2 SLC10A2 GC13M103135
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC10A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC10A2 gene promoter:

Genomic Locations for SLC10A2 Gene

Genomic Locations for SLC10A2 Gene
22,849 bases
Minus strand

Genomic View for SLC10A2 Gene

Genes around SLC10A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC10A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC10A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC10A2 Gene

Proteins for SLC10A2 Gene

  • Protein details for SLC10A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ileal sodium/bile acid cotransporter
    Protein Accession:
    Secondary Accessions:
    • A1L4F4
    • Q13839

    Protein attributes for SLC10A2 Gene

    348 amino acids
    Molecular mass:
    37714 Da
    Quaternary structure:
    • Monomer and homodimer.

neXtProt entry for SLC10A2 Gene

Post-translational modifications for SLC10A2 Gene

  • Glycosylation at isoforms=10
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC10A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC10A2 Gene

Domains & Families for SLC10A2 Gene

Gene Families for SLC10A2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC10A2 Gene

Suggested Antigen Peptide Sequences for SLC10A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.
  • Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.
genes like me logo Genes that share domains with SLC10A2: view

Function for SLC10A2 Gene

Molecular function for SLC10A2 Gene

GENATLAS Biochemistry:
solute carrier family 10,40kDa, (sodium/taurocholate cotransport),member 2,ileal
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SLC10A2 Gene

Gene Ontology (GO) - Molecular Function for SLC10A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008508 bile acid:sodium symporter activity TAS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC10A2: view
genes like me logo Genes that share phenotypes with SLC10A2: view

Human Phenotype Ontology for SLC10A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC10A2 Gene

MGI Knock Outs for SLC10A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC10A2 Gene

Localization for SLC10A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC10A2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC10A2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC10A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7592981
GO:0005902 microvillus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC10A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC10A2 Gene

Pathways & Interactions for SLC10A2 Gene

genes like me logo Genes that share pathways with SLC10A2: view

Pathways by source for SLC10A2 Gene

Interacting Proteins for SLC10A2 Gene

Gene Ontology (GO) - Biological Process for SLC10A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7592981
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0015721 bile acid and bile salt transport TAS,IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC10A2: view

No data available for SIGNOR curated interactions for SLC10A2 Gene

Drugs & Compounds for SLC10A2 Gene

(24) Drugs for SLC10A2 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
deoxycholic acid Approved Pharma Antagonist, Transporter, inhibitor 43
cholic acid Approved Pharma Full agonist, Agonist, Transporter, substrate, inhibitor, inducer 0
Ursodeoxycholic acid Approved, Investigational Pharma Transporter, inhibitor 104
chenodeoxycholic acid Approved Pharma Antagonist 35
Aciclovir Approved Pharma Transporter, substrate 0

(84) Additional Compounds for SLC10A2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Sodium
  • Sodium ion
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • Chenodeoxycholic acid 3-glucuronide
  • Chenodeoxycholic acid-3-b-D-glucuronide
  • Chenodeoxycholic acid-3-beta-delta-glucuronide
1,3,12-Trihydroxycholan-24-oic acid
  • 1,3,12-Trihydroxy-5b-Cholanoate
  • 1,3,12-Trihydroxy-5b-Cholanoic acid
  • 1,3,12-Trihydroxy-Cholan-24-oate
  • 1,3,12-Trihydroxy-Cholan-24-oic acid
  • 1,3,12-Trihydroxycholan-24-oate
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxy-Cholan-24-oate
  • 1,3,7,12-Tetrahydroxy-Cholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-oate
  • 1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholanoate
12a-Hydroxy-3-oxocholadienic acid
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-oate
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-oic acid
  • 12a-Hydroxy-3-oxo-Chola-4,6-dienate
  • 12a-Hydroxy-3-oxo-Chola-4,6-dienic acid
  • 12a-Hydroxy-3-oxochola-4,6-dienate
genes like me logo Genes that share compounds with SLC10A2: view

Transcripts for SLC10A2 Gene

mRNA/cDNA for SLC10A2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC10A2 Gene

Solute carrier family 10 (sodium/bile acid cotransporter family), member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC10A2 Gene

No ASD Table

Relevant External Links for SLC10A2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC10A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC10A2 Gene

mRNA differential expression in normal tissues according to GTEx for SLC10A2 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x49.7).

NURSA nuclear receptor signaling pathways regulating expression of SLC10A2 Gene:


SOURCE GeneReport for Unigene cluster for SLC10A2 Gene:


Evidence on tissue expression from TISSUES for SLC10A2 Gene

  • Intestine(4.6)
  • Blood(4.4)
  • Kidney(2.3)
  • Liver(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC10A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • digestive
  • nervous
Head and neck:
  • brain
  • head
  • gallbladder
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • anus
  • rectum
genes like me logo Genes that share expression patterns with SLC10A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SLC10A2 Gene

Orthologs for SLC10A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC10A2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC10A2 33 34
  • 99.33 (n)
(Canis familiaris)
Mammalia SLC10A2 33 34
  • 86.59 (n)
(Bos Taurus)
Mammalia SLC10A2 33 34
  • 84.69 (n)
(Rattus norvegicus)
Mammalia Slc10a2 33
  • 80.84 (n)
(Mus musculus)
Mammalia Slc10a2 33 16 34
  • 80.65 (n)
(Monodelphis domestica)
Mammalia SLC10A2 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia SLC10A2 34
  • 72 (a)
(Gallus gallus)
Aves SLC10A2 33 34
  • 70.32 (n)
(Anolis carolinensis)
Reptilia SLC10A2 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487141 33
  • 66.96 (n)
(Danio rerio)
Actinopterygii slc10a2 33 34
  • 61.86 (n)
zgc63998 33
fruit fly
(Drosophila melanogaster)
Insecta CG9903 33 34
  • 44.06 (n)
CG11655 34
  • 16 (a)
(Caenorhabditis elegans)
Secernentea Y71G10AR.4 34
  • 15 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G26900 33
  • 46.41 (n)
(Oryza sativa)
Liliopsida Os01g0645200 33
  • 44.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
Species where no ortholog for SLC10A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC10A2 Gene

Gene Tree for SLC10A2 (if available)
Gene Tree for SLC10A2 (if available)

Paralogs for SLC10A2 Gene

Paralogs for SLC10A2 Gene

(4) SIMAP similar genes for SLC10A2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC10A2: view

Variants for SLC10A2 Gene

Sequence variations from dbSNP and Humsavar for SLC10A2 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs121917848 pathogenic, Bile acid malabsorption, primary, Primary bile acid malabsorption (PBAM) [MIM:613291] 103,051,290(-) A/G coding_sequence_variant, missense_variant
rs387906390 pathogenic, Bile acid malabsorption, primary 103,052,619(-) CTT/AAG coding_sequence_variant, splice_donor_variant
rs56398830 uncertain-significance, likely-benign, not provided, not specified 103,049,340(-) G/A/T coding_sequence_variant, missense_variant
rs72547505 pathogenic, Bile acid malabsorption, primary, Primary bile acid malabsorption (PBAM) [MIM:613291] 103,049,423(-) G/A/T coding_sequence_variant, missense_variant
rs188096 benign, not specified 103,052,694(-) A/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC10A2 Gene

Variant ID Type Subtype PubMed ID
dgv3369n54 CNV gain 21841781
dgv363e214 CNV gain 21293372
dgv364e214 CNV loss 21293372
dgv580e212 CNV gain 25503493
esv22017 CNV gain 19812545
esv2761815 CNV gain 21179565
nsv1158 CNV deletion 18451855
nsv471173 CNV loss 18288195
nsv523242 CNV gain 19592680
nsv562981 CNV gain 21841781
nsv818992 CNV gain 17921354

Variation tolerance for SLC10A2 Gene

Residual Variation Intolerance Score: 81.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC10A2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC10A2 Gene

Disorders for SLC10A2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SLC10A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bile acid malabsorption, primary
  • pbam
  • fatty stool
vaginal cancer
  • malignant neoplasm of vagina
bartholin's gland benign neoplasm
  • bartholin gland neoplasm
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
- elite association - COSMIC cancer census association via MalaCards


  • Primary bile acid malabsorption (PBAM) [MIM:613291]: An intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids. {ECO:0000269 PubMed:9109432}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC10A2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC10A2: view

No data available for Genatlas for SLC10A2 Gene

Publications for SLC10A2 Gene

  1. A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease. (PMID: 19823678) Renner O … Stange EF (PloS one 2009) 3 22 44 58
  2. Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study. (PMID: 18644122) Grünhage F … Lammert F (BMC medical genetics 2008) 3 22 44 58
  3. Topology scanning and putative three-dimensional structure of the extracellular binding domains of the apical sodium-dependent bile acid transporter (SLC10A2). (PMID: 15350125) Zhang EY … Swaan PW (Biochemistry 2004) 3 4 22 58
  4. Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption. (PMID: 11589382) Montagnani M … Qvist P (Scandinavian journal of gastroenterology 2001) 3 4 22 58
  5. Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia. (PMID: 11742882) Love MW … Dawson PA (Arteriosclerosis, thrombosis, and vascular biology 2001) 3 4 22 58

Products for SLC10A2 Gene

Sources for SLC10A2 Gene

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