LOCUS       NM_000452               3350 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 10 member 2 (SLC10A2), mRNA.
ACCESSION   NM_000452
VERSION     NM_000452.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3350)
  AUTHORS   Meadows,V., Marakovits,C., Ekser,B., Kundu,D., Zhou,T., Kyritsi,K.,
            Pham,L., Chen,L., Kennedy,L., Ceci,L., Wu,N., Carpino,G., Zhang,W.,
            Isidan,A., Meyer,A., Owen,T., Gaudio,E., Onori,P., Alpini,G. and
            Francis,H.
  TITLE     Loss of apical sodium bile acid transporter alters bile acid
            circulation and reduces biliary damage in cholangitis
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 324 (1), G60-G77 (2023)
   PUBMED   36410025
  REMARK    GeneRIF: Loss of apical sodium bile acid transporter alters bile
            acid circulation and reduces biliary damage in cholangitis.
REFERENCE   2  (bases 1 to 3350)
  AUTHORS   Ontsouka,E., Epstein,A., Kallol,S., Zaugg,J., Baumann,M.,
            Schneider,H. and Albrecht,C.
  TITLE     Placental Expression of Bile Acid Transporters in Intrahepatic
            Cholestasis of Pregnancy
  JOURNAL   Int J Mol Sci 22 (19), 10434 (2021)
   PUBMED   34638773
  REMARK    GeneRIF: Placental Expression of Bile Acid Transporters in
            Intrahepatic Cholestasis of Pregnancy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3350)
  AUTHORS   Zhu,Q., Komori,H., Imamura,R. and Tamai,I.
  TITLE     A Novel Fluorescence-Based Method to Evaluate Ileal Apical
            Sodium-Dependent Bile Acid Transporter ASBT
  JOURNAL   J Pharm Sci 110 (3), 1392-1400 (2021)
   PUBMED   33278408
  REMARK    GeneRIF: A Novel Fluorescence-Based Method to Evaluate Ileal Apical
            Sodium-Dependent Bile Acid Transporter ASBT.
REFERENCE   4  (bases 1 to 3350)
  AUTHORS   Ayewoh,E.N., Czuba,L.C., Nguyen,T.T. and Swaan,P.W.
  TITLE     S-acylation status of bile acid transporter hASBT regulates its
            function, metabolic stability, membrane expression, and
            phosphorylation state
  JOURNAL   Biochim Biophys Acta Biomembr 1863 (2), 183510 (2021)
   PUBMED   33189717
  REMARK    GeneRIF: S-acylation status of bile acid transporter hASBT
            regulates its function, metabolic stability, membrane expression,
            and phosphorylation state.
REFERENCE   5  (bases 1 to 3350)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3350)
  AUTHORS   Shneider,B.L.
  TITLE     Intestinal bile acid transport: biology, physiology, and
            pathophysiology
  JOURNAL   J Pediatr Gastroenterol Nutr 32 (4), 407-417 (2001)
   PUBMED   11396803
  REMARK    Review article
REFERENCE   7  (bases 1 to 3350)
  AUTHORS   Craddock,A.L., Love,M.W., Daniel,R.W., Kirby,L.C., Walters,H.C.,
            Wong,M.H. and Dawson,P.A.
  TITLE     Expression and transport properties of the human ileal and renal
            sodium-dependent bile acid transporter
  JOURNAL   Am J Physiol 274 (1), G157-G169 (1998)
   PUBMED   9458785
REFERENCE   8  (bases 1 to 3350)
  AUTHORS   Oelkers,P., Kirby,L.C., Heubi,J.E. and Dawson,P.A.
  TITLE     Primary bile acid malabsorption caused by mutations in the ileal
            sodium-dependent bile acid transporter gene (SLC10A2)
  JOURNAL   J Clin Invest 99 (8), 1880-1887 (1997)
   PUBMED   9109432
REFERENCE   9  (bases 1 to 3350)
  AUTHORS   Wong,M.H., Rao,P.N., Pettenati,M.J. and Dawson,P.A.
  TITLE     Localization of the ileal sodium-bile acid cotransporter gene
            (SLC10A2) to human chromosome 13q33
  JOURNAL   Genomics 33 (3), 538-540 (1996)
   PUBMED   8661017
REFERENCE   10 (bases 1 to 3350)
  AUTHORS   Wong,M.H., Oelkers,P. and Dawson,P.A.
  TITLE     Identification of a mutation in the ileal sodium-dependent bile
            acid transporter gene that abolishes transport activity
  JOURNAL   J Biol Chem 270 (45), 27228-27234 (1995)
   PUBMED   7592981
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161771.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000452.2.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U10417.1, BC130523.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267780 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245312.5/ ENSP00000245312.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-545               AL161771.17        138847-139391       c
            546-664             AL161771.17        131238-131356       c
            665-753             AL161771.17        125594-125682       c
            754-929             AL161771.17        124231-124406       c
            930-1087            AL161771.17        122263-122420       c
            1088-3350           AL161771.17        116972-119234       c
FEATURES             Location/Qualifiers
     source          1..3350
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..3350
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="solute carrier family 10 member 2"
                     /db_xref="GeneID:6555"
                     /db_xref="HGNC:HGNC:10906"
                     /db_xref="MIM:601295"
     exon            1..545
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             169..1215
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="ileal apical sodium-dependent bile acid
                     transporter; ileal sodium-dependent bile acid transporter;
                     Na(+)-dependent ileal bile acid transporter;
                     sodium/taurocholate cotransporting polypeptide, ileal;
                     solute carrier family 10 (sodium/bile acid cotransporter
                     family), member 2; solute carrier family 10 (sodium/bile
                     acid cotransporter), member 2; Na+/taurocholate
                     cotransporting polypeptide 2"
                     /codon_start=1
                     /product="ileal sodium/bile acid cotransporter"
                     /protein_id="NP_000443.2"
                     /db_xref="CCDS:CCDS9506.1"
                     /db_xref="GeneID:6555"
                     /db_xref="HGNC:HGNC:10906"
                     /db_xref="MIM:601295"
                     /translation="MNDPNSCVDNATVCSGASCVVPESNFNNILSVVLSTVLTILLAL
                     VMFSMGCNVEIKKFLGHIKRPWGICVGFLCQFGIMPLTGFILSVAFDILPLQAVVVLI
                     IGCCPGGTASNILAYWVDGDMDLSVSMTTCSTLLALGMMPLCLLIYTKMWVDSGSIVI
                     PYDNIGTSLVSLVVPVSIGMFVNHKWPQKAKIILKIGSIAGAILIVLIAVVGGILYQS
                     AWIIAPKLWIIGTIFPVAGYSLGFLLARIAGLPWYRCRTVAFETGMQNTQLCSTIVQL
                     SFTPEELNVVFTFPLIYSIFQLAFAAIFLGFYVAYKKCHGKNKAEIPESKENGTEPES
                     SFYKANGGFQPDEK"
     exon            546..664
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            665..753
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            754..929
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1087
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..3350
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3331..3336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="hexamer: AATGAA"
     polyA_site      3350
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="major polyA site"
ORIGIN      
        1 acttccctaa ggtggctttc aaaagagaca ccaagtgaca tatttttagg aggggtttaa
       61 aagtttgatg gggtagaagt aaacgttgct taactcaacc agcagcagag ccagggccca
      121 gggaccagcg cttctgtgga cttggccttt ccagcagcag acccagcaat gaatgatccg
      181 aacagctgtg tggacaatgc aacagtttgc tctggtgcat cctgtgtggt acctgagagc
      241 aatttcaata acatcctaag tgtggtccta agtacggtgc tgaccatcct gttggccttg
      301 gtgatgttct ccatgggatg caacgtggaa atcaagaaat ttctagggca cataaagcgg
      361 ccgtggggca tttgtgttgg cttcctctgt cagtttggaa tcatgcccct cacaggattc
      421 atcctgtcgg tggcctttga catcctcccg ctccaggccg tagtggtgct cattatagga
      481 tgctgccctg gaggaactgc ctccaatatc ttggcctatt gggtcgatgg cgacatggac
      541 ctgagcgtca gcatgaccac atgctccaca ctgcttgccc tcggaatgat gccgctgtgc
      601 ctccttatct ataccaaaat gtgggtcgac tctgggagca tcgtaattcc ctatgataac
      661 ataggtacat ctctggtttc tctcgttgtt cctgtttcca ttggaatgtt tgttaatcac
      721 aaatggcccc aaaaagcaaa gatcatactt aaaattgggt ccatcgcggg cgccatcctc
      781 attgtgctca tagctgtggt tggaggaata ttgtaccaaa gcgcctggat cattgctccc
      841 aaactgtgga ttataggaac aatatttcct gtggcgggtt actccctggg gtttcttctg
      901 gctagaattg ctggtctacc ctggtacagg tgccgaacgg ttgcttttga aacggggatg
      961 cagaacacgc agctatgttc caccatcgtt cagctctcct tcactcctga ggagctcaat
     1021 gtcgtattca ccttcccgct catctacagc attttccagc tcgcctttgc cgcaatattc
     1081 ttaggatttt atgtggcata caagaaatgt catggaaaaa acaaggcaga aattccagag
     1141 agcaaagaaa atggaacgga gccagagtca tcgttttata aggcaaatgg aggatttcaa
     1201 cctgacgaaa agtagacatc aagtggacaa aacagacgag ttccaaatta cgttcttaaa
     1261 ccgtaactat atttaattat ttgttttggt aggacagttg gcagaaaaga gttaaagtga
     1321 aaattggaat ttcattggaa ttcatgtatt ggtttcagta ccaagtgact ggtggcccaa
     1381 ttctttaatg ggacaaatat tgtttcctat atatatgtat atgttttata tatgtatgta
     1441 tactcatata gatatattgt cattgaaata ttcccccaaa atattctcag actaaacctg
     1501 acatagggaa caccgagaat gaaaacatct ttaacaccaa aactgaattc ttatgcagaa
     1561 tttcctagcc catagatgac aacctgactt tctgtatgtt aaagtagatg taatgaatta
     1621 ttattattac agtggtcacg attttcttca gtgtttatga ttataaaaat tgacatgaac
     1681 atctttcact gacattttaa tcattatttt aaaagctttg caacctatat atttatataa
     1741 ctttgtaata taacatgggc aaatatctga cttctgtatt tttaaaaagt tgccttctcc
     1801 agtggcagtc caaaagcaga aatgagagga aattattaca aaatagaatt caataaccat
     1861 attggatgca ggctcttaac tcagcaggga tatcgtacat ctattgctct acctcagggg
     1921 tccagtgata cccactagat cttccaagga aaaacataat tctttcaaac ggtgtgtatt
     1981 tggcaaagag ctcttcaaat ctgggagagg gacttcctca aggttttcct gtgtgcagtg
     2041 gatccacata gctaatatga cagctagtca gttgacaggg accacccaca gtaagcacca
     2101 tggtcaggga ggtggcagga ggtgcaaaga cagaagtatt gagagaaaca ccaagactct
     2161 agtggaggaa ttaattcaat gggagatagt ataaaataca tagaaaacac aagtaacaga
     2221 aacctggttg aaatgcttaa ctagagtcaa ttagatgtgc aggagtaagt agtataagaa
     2281 gaatcaagtc cgagagtgat caggaaatga gtattaaaca gtatttgaaa cagagaacgt
     2341 gtcccagggc ccaaaagtca gaagggcccc accagccagg aaagttgttt caatgctgta
     2401 agtaggtgta gccaagggaa gccaggacta tctgatatac ggtagcaggg gtttacggct
     2461 gccaggggaa aataactcat caagtgttgg actttcaatt ataagatcga atttaatttc
     2521 ctttccctca ttctgcagca atcagaatac acaatcttaa ccactcggtc cttagtggtt
     2581 ttgttccatt ttgcattggg tattttcact gcctcataga gtctatttca agtgttttgg
     2641 ctgaaagggc tttttgcatt tgcatgttct gagttcagat tctgctggtg cacccaagca
     2701 ttatgggaac aggaactcaa cttagctctt ccagtagagg ggtgagggat tctgcttttc
     2761 aaattcataa cattgatctt tttatgcaag atttccattt acagttgaat aagtacttca
     2821 tatttttcca tcattagaca aatacaaaat ggactaaata attttaagag atagtggagg
     2881 agagggggta cagacttcct tcttagagag tgtcagagaa tatgctccca atggtggaaa
     2941 ggaagattta cagtctagcg gctaagtacc tcctacacat ttcccatcaa tcagaaaata
     3001 gacaggtaca ctaaagggac cctgagaact cctcttgtaa tttcaacaca cccaaaatca
     3061 agggcctgga tgccagcagc tgcagcaagc aggtttttcc tccctgttga gcaagacagg
     3121 tgagcaagat aggacttggc tttcttacat gatgcggtaa cttgtgactt gagtcttttt
     3181 ccctaatttg ctagtgggaa gaaaaatagc tgagctttct aaaatgatag ctctctattt
     3241 ttaaatgaat ttgaaaagtc gattaaatta tgtattttat tgcctctgag tatcatatta
     3301 aatgaatatt ttattttaaa ggcttaaata aatgaaaatg atttttgtaa
//
