Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC10A2 Gene

Aliases for SLC10A2 Gene

  • Solute Carrier Family 10 Member 2 2 3 4
  • Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter), Member 2 2 3 5
  • 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 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 Bile secretion 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

Regulatory Elements for SLC10A2 Gene

Enhancers for SLC10A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC10A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC10A2 Gene

Chromosome:
13
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

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:
    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

  • Glycosylation at Asn 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

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for SLC10A2 Gene COMPARTMENTS Subcellular localization image for SLC10A2 gene
Compartment Confidence
plasma membrane 5
cytosol 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC10A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005902 microvillus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC10A2: view

Pathways & Interactions 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:0006814 sodium ion transport IEA --
GO:0008206 bile acid metabolic process TAS --
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

(22) 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 39
cholic acid Approved Pharma Full agonist, Agonist, Transporter, substrate, inhibitor, inducer 0
Ursodeoxycholic acid Approved, Investigational Pharma Transporter, inhibitor 83
chenodeoxycholic acid Approved Pharma Antagonist 27
Aciclovir Approved Pharma Transporter, substrate 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
(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
58814-71-4
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
63266-91-1
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
63266-89-7
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
13535-96-1
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 (x49.7).

SOURCE GeneReport for Unigene cluster for SLC10A2 Gene Hs.194783

genes like me logo Genes that share expression patterns with SLC10A2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia SLC10A2 35
  • 99.33 (n)
  • 99.43 (a)
SLC10A2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc10a2 35
  • 80.84 (n)
  • 83.05 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC10A2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC10A2 36
  • 72 (a)
OneToOne
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)
zgc63998 35
slc10a2 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9903 35
  • 44.06 (n)
  • 26.57 (a)
CG11655 36
  • 16 (a)
ManyToMany
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

(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 Sequence Context AA Info Type
rs188096 - 103,052,694(+) GAGAG(A/C)AACCA reference, missense
VAR_004614 Primary bile acid malabsorption (PBAM)
rs72547505 Primary bile acid malabsorption (PBAM) 103,049,423(-) TGAAA(A/C/T)GGGGA reference, missense
rs56398830 - 103,049,340(+) GAGCG(A/G)GAAGG reference, missense
rs55971546 - 103,065,958(+) CACTA(C/T)GGCCT reference, missense

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

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)

Relevant External Links for SLC10A2 Gene

Human Gene Mutation Database (HGMD)
SLC10A2

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

Disorders for SLC10A2 Gene

MalaCards: The human disease database

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

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

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.

Relevant External Links for SLC10A2

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

No data available for Genatlas for SLC10A2 Gene

Publications for SLC10A2 Gene

  1. 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) GrA1nhage F. … Lammert F. (BMC Med. Genet. 2008) 3 23 48 67
  2. Expression and transport properties of the human ileal and renal sodium-dependent bile acid transporter. (PMID: 9458785) Craddock A.L. … Dawson P.A. (Am. J. Physiol. 1998) 3 23 25 26
  3. Identification of a region of the ileal-type sodium/bile acid cotransporter interacting with a competitive bile acid transport inhibitor. (PMID: 12475240) HallAcn S. … Sachs G. (Biochemistry 2002) 23 25 26
  4. 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
  5. Green tea catechin EGCG inhibits ileal apical sodium bile acid transporter ASBT. (PMID: 20056894) Annaba F. … Alrefai W.A. (Am. J. Physiol. Gastrointest. Liver Physiol. 2010) 3 23

Products for SLC10A2 Gene

Sources for SLC10A2 Gene

Content