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GIFtS

SLC10A2 Gene

protein-coding   GIFtS: 62
GCID: GC13M103696

solute carrier family 10 (sodium/bile acid cotransporter...


(Previous symbols: ASBT, ISBT)
 Explore 34 diseases affiliated with
SLC10A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC10A2    

Aliases
for SLC10A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter Family), Member
21 2
     Na(+)-Dependent Ileal Bile Acid Transporter2 3
ASBT1 2 3     PBAM2 5
ISBT1 2 3     Ileal Apical Sodium-Dependent Bile Acid Transporter2
NTCP22 3 5     Ileal Sodium/Bile Acid Cotransporter2
Ileal Sodium-Dependent Bile Acid Transporter2 3     Apical Sodium-Dependent Bile Acid Transporter3
Sodium/Taurocholate Cotransporting Polypeptide, Ileal2 3     Ileal Na(+)/Bile Acid Cotransporter3
IBAT2 3     Solute Carrier Family 10 Member 23

External Ids:    HGNC: 109061   Entrez Gene: 65552   Ensembl: ENSG000001252557   OMIM: 6012955   UniProtKB: Q129083   

Export aliases for SLC10A2 gene to outside databases

Previous GC identifers: GC13M102056 GC13M098083 GC13M102532 GC13M101394 GC13M102494 GC13M084288


Summaries
for SLC10A2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC10A2:
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)

UniProtKB/Swiss-Prot: NTCP2_HUMAN, Q12908
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 Wiki entry for SLC10A2


Genomic Views
for SLC10A2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_009952.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC10A2 gene promoter:
         AML1a   AP-1   ATF-2   CUTL1   LCR-F1   Evi-1   PPAR-alpha   IRF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC10A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC10A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC10A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q33   Ensembl cytogenetic band:  13q33.1   HGNC cytogenetic band: 13q33

SLC10A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC10A2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M103696:  view genomic region     (about GC identifiers)

Start:
 103,696,348 bp from pter      End:
 103,719,196 bp from pter
Size:
 22,849 bases      Orientation:
 minus strand

Proteins
for SLC10A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NTCP2_HUMAN, Q12908 (See protein sequence)
Recommended Name: Ileal sodium/bile acid cotransporter  
Size: 348 amino acids; 37714 Da
Subunit: Monomer and homodimer
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: A1L4F4 Q13839

Explore the universe of human proteins at neXtProt for SLC10A2: NX_Q12908

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12908

    • SLC10A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000443.1  
    ENSEMBL proteins: 
     ENSP00000245312  
    Reactome Protein details: Q12908
    Human Recombinant Protein Products: 
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    Uscn Proteins for SLC10A2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex IEA--
    GO:0005634nucleus IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS7592981
    GO:0016324apical plasma membrane IEA--


    SLC10A2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC10A2

    Protein Domains /
    Families
    for SLC10A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC10A2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004710 Bil_ac_transpt
     IPR002657 BilAc/Na_symport

    Graphical View of Domain Structure for InterPro Entry Q12908

    ProtoNet protein and cluster: Q12908

    1 Blocks protein family: IPB002657 Bile acid:sodium symporter

    UniProtKB/Swiss-Prot: NTCP2_HUMAN, Q12908
    Similarity: Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family


    Function
    for SLC10A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NTCP2_HUMAN, Q12908
    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

         Genatlas biochemistry entry for SLC10A2:
    solute carrier family 10,40kDa, (sodium/taurocholate cotransport),member 2,ileal

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC10A2
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC10A2 (see all 13):
    hsa-miR-579 hsa-miR-3163 hsa-miR-203 hsa-miR-1301 hsa-miR-664 hsa-miR-1305 hsa-miR-1184 hsa-miR-513b
    SwitchGear 3'UTR luciferase reporter plasmid: SLC10A2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008508bile acid:sodium symporter activity IEA--


    SLC10A2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Slc10a2tm1Pda for SLC10A2
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc10a2):
     digestive/alimentary  growth/size  homeostasis/metabolism  liver/biliary system 

    SLC10A2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC10A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    2Synthesis of bile acids and bile salts
    		Bile acid and bile salt metabolism0.70
    		Recycling of bile acids and salts0.11
    3Bile secretion
    		Bile secretion1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for SLC10A2
        Bile acid and bile salt metabolism
    Metabolism
    Recycling of bile acids and salts
    Metabolism of lipids and lipoproteins


    1         Kegg Pathway  (Kegg details for SLC10A2):
        Bile secretion


    SLC10A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC10A2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SLC10A2 (Q129083 ENSP000002453124) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ABCC3ENSP000002852384STRING: ENSP00000285238
    ALBENSP000002958974STRING: ENSP00000295897
    FABP6ENSP000003775494STRING: ENSP00000377549
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9109432
    GO:0008206bile acid metabolic process TAS--
    GO:0015711organic anion transport ----
    GO:0015721bile acid and bile salt transport TAS--
    GO:0044281small molecule metabolic process TAS--


    SLC10A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC10A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC10A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC10A2

    10/86 HMDB Compounds for SLC10A2 (see all 86)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acidChenodeoxycholic acid 3-glucuronide (see all 3)58814-71-411447228
    1,3,12-Trihydroxycholan-24-oic acid1,3,12-Trihydroxycholan-24-oate (see all 6)63266-91-111447228
    1,3,7,12-Tetrahydroxycholan-24-oic acid1,3,7,12-Tetrahydroxycholan-24-oate (see all 10)63266-89-711447228
    12-Ketodeoxycholic acid12-Dehydrodeoxycholate (see all 20)5130-29-011447228
    12a-Hydroxy-3-oxocholadienic acid12a-Hydroxy-3-oxo-4,6-choladien-24-oate (see all 8)13535-96-111447228
    12b-Hydroxy-5b-cholanoic acid12b-Hydroxy-5b-cholanic acid (see all 9)15173-23-611447228
    1b,3a,12a-Trihydroxy-5b-cholanoic acid1,3,12-trihydroxy-(5b)-Cholan-24-oate (see all 6)80434-32-811447228
    1b,3a,7a-Trihydroxy-5b-cholanoic acid1 beta,3a,7a-Trihydroxy-5b-cholanoate (see all 18)99598-04-611447228
    1b-Hydroxycholic acid1b,3a,7a,12a-Tetrahydroxy-5b-cholan-24-oate (see all 5)80875-94-111447228
    2b,3a,7a,12a-Tetrahydroxy-5b-cholanoic acid2b,3a,7a,12a-Tetrahydroxy-5b-cholan-24-oate (see all 7)60696-60-811447228

    6 DrugBank Compounds for SLC10A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Taurocholic Acid-- 81-24-3transportersubstrate inducer12092825 14610227 12399219 10101301 12475240 10984521 11093941 9458785
    Cholic Acid-- 81-25-4transportersubstrate inhibitor inducer12092825 10101301 11438506 11093941 9458785
    Deoxycholic Acid-- 83-44-3transporterinhibitor12092825 10101301 9458785
    Ursodeoxycholic acid(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid (see all 18)128-13-2transporterinhibitor12092825 10101301 9458785
    Glycochenodeoxycholic Acid-- 640-79-9transportersubstrate11093941 9458785
    CyclosporineCiclosporin (see all 3)59865-13-3transporterinhibitor9458785

    10/15 Novoseek chemical compound relationships for SLC10A2 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    taurocholate 88.4 17 11696242 (1), 18081658 (1), 19464309 (1), 15209631 (1) (see all 11)
    chenodeoxycholic acid 73.6 1 15239098 (1)
    methanethiosulfonate 68.3 5 17971420 (1), 16387497 (1)
    sodium 63.2 67 16749855 (3), 16237211 (2), 16150853 (2), 16484503 (2) (see all 28)
    deoxycholic acid 56.9 1 17964214 (1)
    cholesterol 52.3 57 16484503 (6), 15604201 (5), 18063707 (5), 12235263 (3) (see all 17)
    cysteine 36.5 3 17971420 (1), 18508772 (1), 16387497 (1)
    squalene 35 2 16598906 (1), 15329820 (1)
    retinoic acid 32.7 5 15239098 (4), 18772362 (1)
    pravastatin 24 1 1627658 (1)

    3 PharmGKB related drug/compound annotations for SLC10A2 gene
    Drug/compound PharmGKB Annotation
    anthracyclines and related substancesCA  
    docetaxelCA  
    thalidomideCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about SLC10A2 / NTCP2 

    Transcripts
    for SLC10A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC10A2 gene: 
    NM_000452.2  

    Unigene Cluster for SLC10A2:

    Solute carrier family 10 (sodium/bile acid cotransporter family), member 2
    Hs.194783  [show with all ESTs]
    Unigene Representative Sequence: NM_000452
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000245312(uc001vpy.4)

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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    BC130521.1 BC130523.1 U10417.1 

    1 DOTS entry:

    DT.308477 

    19 AceView cDNA sequences:

    AI783618 AA918012 AW771917 AI272004 BX113842 AW779912 AI911580 AI261717 
    NM_000452 BV198118 BE466363 BI768670 AA504859 U10417 AI733135 AW139713 
    AI792875 AI792778 AA504910 

    GeneLoc Exon Structure


    Expression
    for SLC10A2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC10A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTGAGTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC10A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Human kidney epithelial cell spheroids (Kidney spheroids for...)

    See SLC10A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC10A2

    SOURCE GeneReport for Unigene cluster: Hs.194783
        SABiosciences Expression via Pathway-Focused PCR Array including SLC10A2: 
              Drug Transporters in human mouse rat

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    In Situ
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC10A2

    Orthologs
    for SLC10A2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC10A2 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC10A21 solute carrier family 10 (sodium/bile acid cotransporter more 70.03(n)
    73.49(a)    		   428018  XM_425589.2  XP_425589.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC10A26
    		 --
    		 68(a)
    		 1 ↔ 1
    		 3(101163779-101179459)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc639982 hypothetical protein MGC63998 72.82(n)   393329  BC053189.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG99031 CG9903 44.21(n)
    27.24(a)    		   32621  NM_132904.2  NP_573132.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G269001 Sodium bile acid symporter-like protein 45.23(n)
    31.76(a)    		   817231  NM_179758.3  NP_850089.1 
    rice
    (Oryza sativa)    		 Liliopsida Os01g06452001 hypothetical protein 43.56(n)
    29.24(a)    		   4325917  NM_001050236.1  NP_001043701.1 


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

    Paralogs
    for SLC10A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC10A2 gene
    SLC10A32  SLC10A62  SLC10A12  SLC10A42  SLC10A52  
    4 SIMAP similar genes for SLC10A2 using alignment to 1 protein entry:     NTCP2_HUMAN:
    SLC10A6    SLC10A1    SLC10A4    SLC10A5

    SLC10A2 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC10A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/865 NCBI SNPs in SLC10A2 are shown (see all 865)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs725475051,2
    		C,F,pathogenic84294052(-) TGAAAA/C/TGGGGA 3 K T M mis11NA 4550
    rs1151545201,2
    		C,F,--84288907(+) TGGCAT/CCCAGG 1 -- ut311Minor allele frequency- C:0.05WA 118
    rs793092661,2
    		C,F,--84289027(+) GACTGT/CAAATC 1 -- ut311Minor allele frequency- C:0.07WA 118
    rs1845855111,2
    		C,--84289193(+) TTGCAG/TAAAAA 1 -- ut310--------
    rs1886054371,2
    		C,--84289345(+) AAACAC/GTTGAA 1 -- ut310--------
    rs797319041,2
    		--84289535(+) TGCTAC/TCGTAT 1 -- ut311Minor allele frequency- T:0.01WA 118
    rs412816761,2
    		C,F,--84289608(+) TGGTGG/AGGCCC 1 -- ut312Minor allele frequency- A:0.03WA NA 238
    rs1418012621,2
    		C,--84289634(+) CCTGGA/GACACG 1 -- ut310--------
    rs1505575401,2
    		C,--84289700(+) TCTTCG/TTATAC 1 -- ut310--------
    rs32167811,2
    		C--84289737(-) AAATGCTTAA/- 
                CTAGA     		1 -- ut311Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for SLC10A2 (103696348 - 103719196 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SLC10A2
         2 CNVs: 9721 66534
    Human Gene Mutation Database (HGMD): SLC10A2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC10A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC10A2

    Disorders / Diseases
    for SLC10A2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC10A2 for disorders           About GeneDecksing

    OMIM gene information: 601295   
    OMIM disorders: 613291  
    UniProtKB/Swiss-Prot: NTCP2_HUMAN, Q12908
  • Defects in SLC10A2 are a cause of primary bile acid malabsorption (PBAM) [MIM:613291]. PBAM is an idiopathic
    • intestinal disorder associated with congenital diarrhea, steatorrhea, interruption of the enterohepatic circulation of
    bile acids, and reduced plasma cholesterol levels

    20/34 diseases for SLC10A2 (see all 34):    About MalaCards
    bile acid malabsorption    bile acid malabsorption, primary    hypertriglyceridemia    familial hypertriglyceridemia
    cholesterol    biliary atresia    intrahepatic cholestasis    steatorrhea
    cholestasis    hypercholanemia    barrett's esophagus    inflammatory bowel disease
    alcohol dependence    tongue cancer    hepatopulmonary syndrome    hypercholesterolemia
    familial colorectal cancer    cholelithiasis    liver disease    vaginal cancer

    3 diseases from the University of Copenhagen DISEASES database for SLC10A2:
    Cholestasis     Familial hypertriglyceridemia     Tongue cancer

    10/11 Novoseek disease relationships for SLC10A2 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    byler disease 80 1 16628629 (1)
    hypertriglyceridemias familial 70 2 19184108 (1), 11742882 (1)
    malabsorption 65.3 17 17171805 (3), 11589382 (2), 12819193 (1), 11696242 (1) (see all 8)
    cholestasis intrahepatic 59.9 2 11396803 (1), 14988830 (1)
    cholestasis 55.8 9 16150853 (7), 14988830 (1)
    steatorrhea 44.8 1 12819193 (1)
    hypercholesterolemia 41 4 11808323 (1), 12810816 (1), 11396803 (1), 17470645 (1)
    liver diseases 33.9 1 9141436 (1)
    biliary atresia 31.4 1 16628629 (1)
    atherosclerosis 5.67 2 18054357 (1), 12810816 (1)

    Genetic Association Database (GAD): SLC10A2
    Human Genome Epidemiology (HuGE) Navigator: SLC10A2 (9 documents)

    Export disorders for SLC10A2 gene to outside databases

    Publications
    for SLC10A2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC10A2 gene, integrated from 9 sources (see all 143):
    (articles sorted by number of sources associating them with SLC10A2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Topology scanning and putative three-dimensional structure of the extracellular binding domains of the apical sodium-dependent bile acid transporter (SLC10A2). (PubMed id 15350125)1, 2, 9 Zhang E.Y.... Swaan P.W. (2004)
    2. An association between genetic polymorphisms in the ileal sodium-dependent bile acid transporter gene and the risk of colorectal adenomas. (PubMed id 11535543)1, 4, 9 Wang W....Haile R.W. (2001)
    3. Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption. (PubMed id 11589382)1, 2, 9 Montagnani M.... Qvist P. (2001)
    4. Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia. (PubMed id 11742882)1, 2, 9 Love M.W....Dawson P.A. (2001)
    5. Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). (PubMed id 9109432)1, 2, 9 Oelkers P.... Dawson P.A. (1997)
    6. Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity. (PubMed id 7592981)1, 2, 9 Wong M.H.... Dawson P.A. (1995)
    7. Expression and transport properties of the human ileal and renal sodium-dependent bile acid transporter. (PubMed id 9458785)1, 7, 9 Craddock A.L....Dawson P.A. (1998)
    8. Localization of the ileal sodium-bile acid cotransporter gene (SLC10A2) to human chromosome 13q33. (PubMed id 8661017)1, 3, 9 Wong M.H....Dawson P.A. (1996)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    10. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. (PubMed id 12364586)1, 2 Chumakov I.... Cohen D. (2002)

    External Searches for SLC10A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing SLC10A2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6555 HGNC: 10906 AceView: SLC10A2 Ensembl:ENSG00000125255 euGenes: HUgn6555
    ECgene: SLC10A2 Kegg: 6555 H-InvDB: SLC10A2

    Other Databases showing SLC10A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC10A2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC10A2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC10A2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC10A2 gene:
    Search GeneIP for patents involving SLC10A2

    GeneCards and IP:
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