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FLASH GENE
Symbol SLC10A2 contributors: mctnpt - updated : 12-06-2009
HGNC name solute carrier family 10 (sodium/bile acid cotransporter family), member 2
HGNC id 10906
Corresponding disease
PBAM primary bile acid malabsorption
Location 13q33.1      Physical location : 103.696.349 - 103.719.196
Synonym name
  • ileal bile acid transporter
  • apical sodium-dependent bile acid transporter
  • sodium/taurocholate cotransporting polypeptide, ileal
  • Synonym symbol(s) ASBT, ISBT, NTCP2, IBAT
    DNA
    TYPE functioning gene
    STRUCTURE 22.85 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    alternative promoter
    Binding site   transcription factor
    text structure
  • three HNF1 alpha recognition sites
  • a DR1 element binding PPARalpha
  • an AP1 response element in the promoter (Duane 2008)
  • MAPPING cloned Y linked N status provisional
    Physical map
    DOCK9 13q32.1 dedicator of cytokinesis 9 LOC390421 13 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) PHGDHL1 13 phosphoglycerate dehydrogenase like 1 GPR18 13q32 G protein-coupled receptor 18 EBI2 13q32.3 Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) LOC390422 13 similar to Epstein-Barr virus induced gene 2 TM9SF2 13q32.2 transmembrane 9 superfamily member 2 CLYBL 13q32.3 citrate lyase beta like ZIC5 13q32.2 Zic family member 5 (odd-paired homolog, Drosophila) ZIC2 13q32 Zic family member 2 (odd-paired homolog, Drosophila) PCCA 13q32 propionyl Coenzyme A carboxylase, alpha polypeptide LOC87769 13q32.3 hypothetical protein BC004360 FLJ14624 13q32.3 hypothetical protein FLJ14624 LOC390423 13 similar to ADP-ribosylation factor 4 VGCNL1 13q32.3 voltage gated channel like 1 ITGBL1 13q33 integrin, beta-like 1 (with EGF-like repeat domains) FGF14 13q34 fibroblast growth factor 14 TPP2 13q32-q33 tripeptidyl peptidase II LOC196541 13q33.1 similar to RIKEN cDNA 2310038H17 FLJ40176 13q33.1 hypothetical protein FLJ40176 LOC93081 13q33.1 hypothetical protein BC015148 KDELC1 13q33 KDEL (Lys-Asp-Glu-Leu) containing 1 BIVM 13q32-q33.1 basic, immunoglobulin-like variable motif containing ERCC5 13q22 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) LOC121952 13q33.1 hypothetical protein LOC121952 SLC10A2 13q33 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 G30 13q33.2 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 DAOA LOC144920 13q33.2 hypothetical protein LOC144920 LOC341604 13q33.2 similar to 60S ribosomal protein L35 EFNB2 13q33 ephrin-B2 FLJ10154 13q33.2 hypothetical protein FLJ10154 LOC390424 13 similar to ATP synthase lipid-binding protein, mitochondrial precursor (ATP synthase proteolipid P1) (ATPase protein 9) (ATPase subunit C) LOC122335 13q33.3 similar to peptidylprolyl isomerase A (cyclophilin A) LOC387944 13 similar to expressed sequence AW121567
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3779 37.5 348 - Wong (1996)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestineileum  
    Urinarykidney   specific
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a conserved transmembrane helix 1 (TM1), that plays a pivotal role in gene function and stability, thereby providing further insight in its dynamic transport mechanism
  • conjugated GlycoP
    mono polymer homomer , monomer , dimer
    HOMOLOGY
    interspecies homolog to rattus Slc10a2 (83.0pc)
    homolog to murine Slc10a2 (80.7pc)
    Homologene
    FAMILY
  • solute carrier family 10, member 2, sodium/taurocholate cotransport
  • sodium:bile acid symporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text integral to plasma membrane
    basic FUNCTION
  • playing a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine
  • playing a key role in cholesterol metabolism
  • plays a critical role in the enterohepatic circulation of bile acids, as well as in cholesterol homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • organic anion transport
  • sodium ion transport
  • PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • cholesterol metabolism
  • a component
  • protein constituent of transmembrane
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • interacting with Na+ (Hussainzada 2008)
  • protein
  • PPARA
  • cell & other
    REGULATION
    Other positively regulated by retinoic acid (Neimark 2004)
    negative feedback regulation induced by bile acids, via an FXR-mediated, SHP-dependent effect upon RAR/RXR activation of ASBT (Neimark 2004)
    regulated by PPAR-alpha (Jung 2002)
    undergoes ubiquitin-proteasome degradation under basal condition in choliangiogytes (Xia 2004)
    ASSOCIATED DISORDERS
    corresponding disease(s) PBAM
    Susceptibility
    Variant & Polymorphism other haplotype carriers with the minor allele showed significant reduced SLC10A2 mRNA and protein expressions (Renner 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS