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Aliases for SLC10A2 Gene

Aliases for SLC10A2 Gene

  • Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter), Member 2 2 3
  • NTCP2 3 4 6
  • Sodium/Taurocholate Cotransporting Polypeptide, Ileal 3 4
  • Ileal Sodium-Dependent Bile Acid Transporter 3 4
  • Na(+)-Dependent Ileal Bile Acid Transporter 3 4
  • ASBT 3 4
  • ISBT 3 4
  • PBAM 3 6
  • 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
  • Solute Carrier Family 10 Member 2 4

External Ids for SLC10A2 Gene

Previous Symbols for SLC10A2 Gene

  • ASBT
  • ISBT

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 (Sodium/Bile Acid Cotransporter), 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 Metabolism. 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

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

Genomics for SLC10A2 Gene

Genomic Location for SLC10A2 Gene

Start:
103,043,998 bp from pter
End:
103,066,846 bp from pter
Size:
22,849 bases
Orientation:
Minus strand

Genomic View for SLC10A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC10A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC10A2 Gene

Regulatory Elements for SLC10A2 Gene

Proteins for SLC10A2 Gene

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

    Protein Symbol:
    Q12908-NTCP2_HUMAN
    Recommended name:
    Ileal sodium/bile acid cotransporter
    Protein Accession:
    Q12908
    Secondary Accessions:
    • A1L4F4
    • Q13839

    Protein attributes for SLC10A2 Gene

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

neXtProt entry for SLC10A2 Gene

Proteomics data for SLC10A2 Gene at MOPED

Post-translational modifications for SLC10A2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn10

Other Protein References for SLC10A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC10A2 Gene

Domains for SLC10A2 Gene

Gene Families for SLC10A2 Gene

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

Q12908

UniProtKB/Swiss-Prot:

NTCP2_HUMAN
Family:
  • Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.:
    • Q12908
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

Gene Ontology (GO) - Molecular Function for SLC10A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008508 bile acid:sodium 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

Animal Models for SLC10A2 Gene

MGI Knock Outs for SLC10A2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for SLC10A2 Gene COMPARTMENTS Subcellular localization image for SLC10A2 gene
Compartment Confidence
plasma membrane 4
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC10A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7592981
GO:0005902 microvillus IEA --
genes like me logo Genes that share ontologies with SLC10A2: view

Pathways for SLC10A2 Gene

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

Pathways by source 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:0006814 sodium ion transport IEA --
GO:0008206 bile acid metabolic process TAS --
GO:0015721 bile acid and bile salt transport TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SLC10A2: view

Compounds for SLC10A2 Gene

(86) HMDB Compounds for SLC10A2 Gene

Compound Synonyms Cas Number PubMed IDs
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • Chenodeoxycholic acid 3-glucuronide
58814-71-4
1,3,12-Trihydroxycholan-24-oic acid
  • 1,3,12-Trihydroxycholan-24-oate
63266-91-1
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-oate
63266-89-7
12a-Hydroxy-3-oxocholadienic acid
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-oate
13535-96-1
12b-Hydroxy-5b-cholanoic acid
  • 12b-Hydroxy-5b-cholanic acid
15173-23-6

(8) Drugbank Compounds for SLC10A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Acyclovir
  • 9-Hyroxyethoxymethylguanine
59277-89-3 transporter substrate
Cholic Acid
81-25-4 transporter substrate inhibitor inducer
Cyclosporine
  • Ciclosporin
59865-13-3 transporter inhibitor
Deoxycholic Acid
83-44-3 transporter inhibitor
Glycochenodeoxycholic Acid
640-79-9 transporter substrate

(1) IUPHAR Ligand for SLC10A2 Gene

Ligand Type Action Affinity Pubmed IDs
[3H]taurocholic acid None None

(15) Novoseek inferred chemical compound relationships for SLC10A2 Gene

Compound -log(P) Hits PubMed IDs
taurocholate 88.4 11
chenodeoxycholic acid 73.6 1
methanethiosulfonate 68.3 2
sodium 63.2 39
deoxycholic acid 56.9 1

(3) PharmGKB related drug/compound annotations for SLC10A2 Gene

Drug/compound Annotation
anthracyclines and related substances CA
docetaxel CA
thalidomide CA
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:

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

No ASD Table

Relevant External Links for SLC10A2 Gene

GeneLoc Exon Structure for
SLC10A2
ECgene alternative splicing isoforms for
SLC10A2

Expression for SLC10A2 Gene

mRNA expression in normal human tissues for SLC10A2 Gene

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

This gene is overexpressed in Small Intestine - Terminal Ileum (49.7).

SOURCE GeneReport for Unigene cluster for SLC10A2 Gene Hs.194783

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression 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
chimpanzee
(Pan troglodytes)
Mammalia SLC10A2 35
  • 99.33 (n)
  • 99.43 (a)
SLC10A2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC10A2 35
  • 84.69 (n)
  • 89.53 (a)
SLC10A2 36
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC10A2 35
  • 86.59 (n)
  • 88.22 (a)
SLC10A2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc10a2 35
  • 80.65 (n)
  • 80.75 (a)
Slc10a2 16
Slc10a2 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC10A2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC10A2 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc10a2 35
  • 80.84 (n)
  • 83.05 (a)
chicken
(Gallus gallus)
Aves SLC10A2 35
  • 70.32 (n)
  • 73.49 (a)
SLC10A2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC10A2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487141 35
  • 66.96 (n)
  • 70.55 (a)
zebrafish
(Danio rerio)
Actinopterygii slc10a2 35
  • 61.86 (n)
  • 62.06 (a)
slc10a2 36
  • 58 (a)
OneToOne
zgc63998 35
fruit fly
(Drosophila melanogaster)
Insecta CG11655 36
  • 16 (a)
ManyToMany
CG9903 35
  • 44.06 (n)
  • 26.57 (a)
CG9903 36
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y71G10AR.4 36
  • 15 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G26900 35
  • 46.41 (n)
  • 33.62 (a)
rice
(Oryza sativa)
Liliopsida Os01g0645200 35
  • 44.53 (n)
  • 30.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for SLC10A2:
  • 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

ENSEMBL:
Gene Tree for SLC10A2 (if available)
TreeFam:
Gene Tree for SLC10A2 (if available)

Paralogs for SLC10A2 Gene

Paralogs for SLC10A2 Gene

Selected 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 Sequence Context AA Info Type MAF
rs149455 -- 103,048,252(+) CTGTC(A/G)TGGTG intron-variant
rs157266 -- 103,060,149(+) TCTTC(A/G)AAGGG intron-variant
rs157268 -- 103,068,432(-) CTCCC(A/G)ACAGA upstream-variant-2KB
rs157380 -- 103,057,892(+) AAAAA(A/G)TTTCT intron-variant
rs157381 -- 103,058,334(+) CACAG(C/T)GGCAT synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
esv22017 CNV Gain 19812545
nsv818992 CNV Gain 17921354
nsv523242 CNV Gain 19592680
nsv1158 CNV Loss 18451855
nsv471173 CNV Loss 18288195

Relevant External Links for SLC10A2 Gene

HapMap Linkage Disequilibrium report
SLC10A2
Human Gene Mutation Database (HGMD)
SLC10A2

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

Disorders for SLC10A2 Gene

(1) OMIM Diseases for SLC10A2 Gene (601295)

UniProtKB/Swiss-Prot

NTCP2_HUMAN
  • 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.

(3) University of Copenhagen DISEASES for SLC10A2 Gene

(11) Novoseek inferred disease relationships for SLC10A2 Gene

Disease -log(P) Hits PubMed IDs
byler disease 80 1
hypertriglyceridemias familial 70 2
malabsorption 65.3 11
cholestasis intrahepatic 59.9 2
cholestasis 55.8 8

Relevant External Links for SLC10A2

Genetic Association Database (GAD)
SLC10A2
Human Genome Epidemiology (HuGE) Navigator
SLC10A2
genes like me logo Genes that share disorders with SLC10A2: view

Publications for SLC10A2 Gene

  1. Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity. (PMID: 7592981) Wong M.H. … Dawson P.A. (J. Biol. Chem. 1995) 3 4 23
  2. Localization of the ileal sodium-bile acid cotransporter gene (SLC10A2) to human chromosome 13q33. (PMID: 8661017) Wong M.H. … Dawson P.A. (Genomics 1996) 2 3 23
  3. Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). (PMID: 9109432) Oelkers P. … Dawson P.A. (J. Clin. Invest. 1997) 3 4 23
  4. An association between genetic polymorphisms in the ileal sodium-dependent bile acid transporter gene and the risk of colorectal adenomas. (PMID: 11535543) Wang W. … Haile R.W. (Cancer Epidemiol. Biomarkers Prev. 2001) 3 23 48
  5. 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. (Scand. J. Gastroenterol. 2001) 3 4 23

Products for SLC10A2 Gene

Sources for SLC10A2 Gene

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