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SLC10A2 Gene

protein-coding   GIFtS: 61
GCID: GC13M103696

Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter),...


(Previous symbols: ASBT, ISBT)
  See SLC10A2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter), Member 21 2     PBAM2 5
ASBT1 2 3     Ileal Apical Sodium-Dependent Bile Acid Transporter2
ISBT1 2 3     Ileal Sodium/Bile Acid Cotransporter2
NTCP22 3 5     Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter Family), Member 22
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
Na(+)-Dependent Ileal Bile Acid Transporter2 3     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 familial hypertriglyceridemia. GO annotations related to this gene include bile acid:sodium symporter activity. An important paralog of this gene is SLC10A3.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_009952.15  
Regulatory elements:
   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 plasmidSLC10A2 promoter sequence
   Search Chromatin IP Primers for SLC10A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: A1L4F4 Q13839

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

Explore proteomics data for SLC10A2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn10
  • Modification sites at PhosphoSitePlus

  • See SLC10A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000443.1  
    ENSEMBL proteins: 
     ENSP00000245312  
    Reactome Protein details: Q12908

    SLC10A2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium/bile acid cotransporter 2
    SLC10 family of sodium-bile acid co-transporters

    2 InterPro protein domains:
     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 domain: 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


    Find genes that share domains with SLC10A2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008508bile acid:sodium symporter activity IEA--
         
    Find genes that share ontologies with SLC10A2           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc10a2):
     digestive/alimentary  growth/size/body  homeostasis/metabolism  liver/biliary system 

    Find genes that share phenotypes with SLC10A2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc10a2tm1Pda for SLC10A2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC10A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC10A2
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    miRNA
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    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 plasmidSLC10A2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC10A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NTCP2_HUMAN, Q12908: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex IEA--
    GO:0005634nucleus IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7592981
    GO:0016020membrane ----

    Find genes that share ontologies with SLC10A2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC10A2 About    
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Bile acid and bile salt metabolism0.73
    Recycling of bile acids and salts0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Bile secretion
    Bile secretion


    Find genes that share SuperPaths with SLC10A2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SLC10A2
        Recycling of bile acids and salts


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

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC10A2: 
              Drug Transporters in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC10A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 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
    NIP7ENSP000002549404STRING: ENSP00000254940
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7592981
    GO:0006814sodium ion transport ----
    GO:0008206bile acid metabolic process TAS--
    GO:0015711organic anion transport ----
    GO:0015721bile acid and bile salt transport TAS--

    Find genes that share ontologies with SLC10A2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC10A2 (NTCP2)

    Selected 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

    8 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
    Acyclovir9-Hyroxyethoxymethylguanine (see all 8)59277-89-3transportersubstrate15832499
    CyclosporineCiclosporin (see all 4)59865-13-3transporterinhibitor9458785
    ValaciclovirValaciclovir Hcl (see all 6)124832-27-5transporter--15832499

    1 IUPHAR Ligand for SLC10A2 (Sodium/bile acid cotransporter 2)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]taurocholic acid
    NoneNone9458785

    Selected Novoseek inferred 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    About this table
    Drug/compound PharmGKB Annotation
    anthracyclines and related substancesCA  
    docetaxelCA  
    thalidomideCA  



    Find genes that share compounds with SLC10A2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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    Additional mRNA sequence: 

    BC130521.1 BC130523.1 U10417.1 

    1 DOTS entry:

    DT.308477 

    19 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC10A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGAGTTC
    SLC10A2 Expression
    About this image

    SLC10A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC10A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.194783
        Pathway & Disease-focused RT2 Profiler PCR Array including SLC10A2: 
              Drug Transporters in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC10A2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc10a21 , 5 solute carrier family 10, member 21, 5 80.65(n)1
    80.75(a)1
      8 (2.16 cM)5
    204941  NM_011388.21  NP_035518.11 
     50856235 
    chicken
    (Gallus gallus)
    Aves SLC10A21 solute carrier family 10 (sodium/bile acid cotransporter more 70.32(n)
    73.49(a)
      428018  XM_425589.3  XP_425589.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC10A26
    solute carrier family 10 (sodium/bile acid cotrans...
    64(a)
    1 ↔ 1
    3(101163492-101179645)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004871411 ileal sodium/bile acid cotransporter-like 66.96(n)
    70.55(a)
      100487141  XM_002933023.1  XP_002933069.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc639982 hypothetical protein MGC63998 72.82(n)   393329  BC053189.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG99031 CG9903 44.06(n)
    26.57(a)
      32621  NM_132904.2  NP_573132.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71G10AR.46
    Protein Y71G10AR.4 (Y71G10AR.4) mRNA, complete cds...
    15(a)
    1 → many
    IV(2198997-2208831) WBGene00044650
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G269001 AT2G26900 46.41(n)
    33.62(a)
      817231  NM_179758.3  NP_850089.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g06452001 Os01g0645200 44.53(n)
    30.29(a)
      4325917  NM_001050236.1  NP_001043701.1 


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

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

    Find genes that share paralogs with SLC10A2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC10A2 (see all 939)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs725475051,2,,4
    C,FPrimary bile acid malabsorption (PBAM)4 pathogenic184629437(-) TGAAAA/C/TGGGGA 2 T M mis11NA 4550
    VAR_0046144
    Primary bile acid malabsorption (PBAM)4--see VAR_0046142 L P mis40--------
    rs2009231181,2
    --84289734(+) GACTC-/TAGT  
            
    TAAGC
    1 -- ut310--------
    rs671920331,2
    C--84289735(+) ACTCT-/AGTTA 
            
    AGCAT
    1 -- ut310--------
    rs32167811,2
    C--84289737(-) AAATGCTTAA/
            
    CTAGA
    1 -- ut311Minor allele frequency- -:0.50NA 2
    rs19774881,2
    C,F,H--84289738(+) CTAGTA/C/TAAGCA 2 -- ut31 ese38NS EA 1236
    rs19774891,2
    C--84289739(+) TAGTTA/G/TAGCAT 2 -- ut31 ese30--------
    rs1995676501,2
    C--84307841(+) TTTTT-/T/TG  
            
    TTTTT
    1 -- int10--------
    rs615090921,2
    C--84307842(+) TTTTTA/GTTTTT 1 -- int10--------
    rs1926285541,2
    --84623620(+) AGTTCA/GTGAAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC10A2 (103696348 - 103719196 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC10A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471173CNV Loss18288195
    nsv1158CNV Loss18451855
    nsv523242CNV Gain19592680
    nsv818992CNV Gain17921354
    esv22017CNV Gain19812545

    Human Gene Mutation Database (HGMD): SLC10A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC10A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC10A2

    (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.)
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    OMIM gene information: 601295   
    OMIM disorders: 613291  
    UniProtKB/Swiss-Prot: NTCP2_HUMAN, Q12908
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for SLC10A2:    
    About MalaCards
    bile acid malabsorption, primary    familial hypertriglyceridemia    steatorrhea    familial colorectal cancer
    hypertriglyceridemia    biliary atresia

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

    Find genes that share disorders with SLC10A2           About GenesLikeMe

    Selected Novoseek inferred 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

    (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)
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    PubMed articles for SLC10A2 gene, integrated from 10 sources (see all 158):
    (articles sorted by number of sources associating them with SLC10A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 18644122)1, 4, 9 GrA1nhage F....Lammert F. (BMC Med. Genet. 2008)
    2. 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. (Biochemistry 2004)
    3. A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease. (PubMed id 19823678)1, 4, 9 Renner O....Stange E.F. (PLoS ONE 2009)
    4. 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. (amp 2001)
    5. 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. (Scand. J. Gastroenterol. 2001)
    6. 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. (Arterioscler. Thromb. Vasc. Biol. 2001)
    7. 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. (J. Clin. Invest. 1997)
    8. 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. (J. Biol. Chem. 1995)
    9. 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. (Am. J. Physiol. 1998)
    10. 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. (Genomics 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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