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FLASH GENE
Symbol SLC10A2 contributors: mctnpt - updated : 09-10-2018
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, PBAM
    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)
  • promoter is activated transcriptionally by CDX1 and CDX2
  • 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 - 2018 29198943
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestineileum   Homo sapiens
    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)
    intraspecies paralog to SLC10A6
    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
  • SLC10A1 and SLC10A2 are the best characterized family members, playing pivotal roles in hepatic and intestinal bile acid uptake respectively
  • is essential for maintaining the enterohepatic circulation of bile salts
  • is involved in both the recycling of bile acids and cholesterol homeostasis
  • has a crucial role in intestinal bile acid absorption
  • plays a central role in cholesterol homeostasis via the efficient reabsorption of bile acids from the distal ileum
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • organic anion transport
  • sodium ion transport
  • PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • cholesterol metabolism
  • a component
  • protein constituent of transmembrane
  • forms functional non-covalent homodimers and higher order oligomers
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • interacting with Na+ (Hussainzada 2008)
  • protein
  • PPARA
  • attenuation of gut microbiota alters GATA4-controlled expression of SLC10A2, increasing absorption and decreasing synthesis of bile acids
  • cell & other
    REGULATION
    inhibited by ileal SLC10A2 protein is degraded by a ubiquitin-dependent pathway in response to enterobacteria-associated bile acids
    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)
    regulation of the SLC10A2 involves bile acids (BAs) and cholesterol
    N-glycosylation is essential for ileal SLC10A2 function and protection against proteases
    ASSOCIATED DISORDERS
    corresponding disease(s) PBAM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    might lead to some diseases associated with disorders in the enterohepatic circulation of bile acids (BAs) and cholesterol homeostasis, such as diarrhoea and gallstones
    constitutional     --other  
    is aberrantly expressed in esophageal metaplasia that also expresses CDX transcription factors (pMID: 22016432)
    constitutional     --over  
    play a crucial role in Necrotizing enterocolitis (NEC) pathogenesis, suggesting that inhibition of SLC10A2 could be utilized as a therapeutic modality against this disease
    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
    SystemTypeDisorderPubmed
    digestive  
    inhibition of SLC10A2 could be utilized as a therapeutic modality against Necrotizing enterocolitis (NEC)
    ANIMAL & CELL MODELS
  • Asbt-deficient mice had a striking, 2-fold increase in the number of colon adenocarcinomas