LOCUS       NM_021139               2100 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 2 member B4
            (UGT2B4), transcript variant 1, mRNA.
ACCESSION   NM_021139
VERSION     NM_021139.3
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 2100)
  AUTHORS   Wang PY, Yang Y, Shi XQ, Chen Y, Liu SD, Wang HY, Peng T, Shi Q,
            Zhang W and Sun C.
  TITLE     Distilling functional variations for human UGT2B4 upstream region
            based on selection signals and implications for phenotypes of
            Neanderthal and Denisovan
  JOURNAL   Sci Rep 13 (1), 3134 (2023)
   PUBMED   36823244
  REMARK    GeneRIF: Distilling functional variations for human UGT2B4 upstream
            region based on selection signals and implications for phenotypes
            of Neanderthal and Denisovan.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2100)
  AUTHORS   Chen H, Jiao L, Zhou J, Bai H, Lyu M, Wu T, Wu L, Song J, Liu T,
            Yan H and Ying B.
  TITLE     Absence of significant association between UGT2B4 genetic variants
            and the susceptibility to anti-tuberculosis drug-induced liver
            injury in a Western Chinese population
  JOURNAL   J Clin Pharm Ther 46 (1), 66-73 (2021)
   PUBMED   32170986
  REMARK    GeneRIF: Absence of significant association between UGT2B4 genetic
            variants and the susceptibility to anti-tuberculosis drug-induced
            liver injury in a Western Chinese population.
REFERENCE   3  (bases 1 to 2100)
  AUTHORS   Kahma H, Filppula AM, Neuvonen M, Tarkiainen EK, Tornio A, Holmberg
            MT, Itkonen MK, Finel M, Neuvonen PJ, Niemi M and Backman JT.
  TITLE     Clopidogrel Carboxylic Acid Glucuronidation is Mediated Mainly by
            UGT2B7, UGT2B4, and UGT2B17: Implications for Pharmacogenetics and
            Drug-Drug Interactions
  JOURNAL   Drug Metab Dispos 46 (2), 141-150 (2018)
   PUBMED   29138287
  REMARK    GeneRIF: Clopidogrel carboxylic acid is metabolized mainly by
            UGT2B7 and UGT2B4 in the liver and by UGT2B17 in the small
            intestinal wall.
REFERENCE   4  (bases 1 to 2100)
  AUTHORS   Yermachenko A and Dvornyk V.
  TITLE     UGT2B4 previously implicated in the risk of breast cancer is
            associated with menarche timing in Ukrainian females
  JOURNAL   Gene 590 (1), 85-89 (2016)
   PUBMED   27282283
  REMARK    GeneRIF: UGT2B4 previously implicated in the risk of breast cancer
            is associated with menarche timing in Ukrainian females.
REFERENCE   5  (bases 1 to 2100)
  AUTHORS   Barrett KG, Fang H, Cukovic D, Dombkowski AA, Kocarek TA and
            Runge-Morris M.
  TITLE     Upregulation of UGT2B4 Expression by
            3'-Phosphoadenosine-5'-Phosphosulfate Synthase Knockdown:
            Implications for Coordinated Control of Bile Acid Conjugation
  JOURNAL   Drug Metab Dispos 43 (7), 1061-1070 (2015)
   PUBMED   25948711
  REMARK    GeneRIF: These data indicate that knocking down PAPSS increases
            UGT2B4 transcription and mRNA stability as a compensatory response
            to the loss of SULT2A1 activity
REFERENCE   6  (bases 1 to 2100)
  AUTHORS   Monaghan G, Clarke DJ, Povey S, See CG, Boxer M and Burchell B.
  TITLE     Isolation of a human YAC contig encompassing a cluster of UGT2
            genes and its regional localization to chromosome 4q13
  JOURNAL   Genomics 23 (2), 496-499 (1994)
   PUBMED   7835904
REFERENCE   7  (bases 1 to 2100)
  AUTHORS   Ritter JK, Chen F, Sheen YY, Lubet RA and Owens IS.
  TITLE     Two human liver cDNAs encode UDP-glucuronosyltransferases with 2
            log differences in activity toward parallel substrates including
            hyodeoxycholic acid and certain estrogen derivatives
  JOURNAL   Biochemistry 31 (13), 3409-3414 (1992)
   PUBMED   1554722
REFERENCE   8  (bases 1 to 2100)
  AUTHORS   Fournel-Gigleux S, Jackson MR, Wooster R and Burchell B.
  TITLE     Expression of a human liver cDNA encoding a
            UDP-glucuronosyltransferase catalysing the glucuronidation of
            hyodeoxycholic acid in cell culture
  JOURNAL   FEBS Lett 243 (2), 119-122 (1989)
   PUBMED   2492950
REFERENCE   9  (bases 1 to 2100)
  AUTHORS   Jackson,M.R., McCarthy,L.R., Harding,D., Wilson,S., Coughtrie,M.W.
            and Burchell,B.
  TITLE     Cloning of a human liver microsomal UDP-glucuronosyltransferase
            cDNA
  JOURNAL   Biochem J 242 (2), 581-588 (1987)
   PUBMED   3109396
REFERENCE   10 (bases 1 to 2100)
  AUTHORS   Kadlubar,F.F., Miller,J.A. and Miller,E.C.
  TITLE     Hepatic microsomal N-glucuronidation and nucleic acid binding of
            N-hydroxy arylamines in relation to urinary bladder carcinogenesis
  JOURNAL   Cancer Res 37 (3), 805-814 (1977)
   PUBMED   13929
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC026264.1, Y00317.1 and AF064200.1.
            
            On Nov 23, 2018 this sequence version replaced NM_021139.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: BC026264.1, SRR5189664.92344.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2162895
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305107.7/ ENSP00000305221.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 BC026264.1         1-7
            8-556               Y00317.1           1-549
            557-991             BC026264.1         557-991
            992-1187            Y00317.1           985-1180
            1188-1312           BC026264.1         1188-1312
            1313-1988           Y00317.1           1306-1981
            1989-2078           BC026264.1         1989-2078
            2079-2100           AF064200.1         2060-2081
FEATURES             Location/Qualifiers
     source          1..2100
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..2100
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /note="UDP glucuronosyltransferase family 2 member B4"
                     /db_xref="GeneID:7363"
                     /db_xref="HGNC:HGNC:12553"
                     /db_xref="MIM:600067"
     exon            1..765
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..1631
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /EC_number="2.4.1.17"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; UDP-glucuronyltransferase, family 2, beta-4;
                     hyodeoxycholic acid; UDP-glucuronosyltransferase 2B4;
                     UDPGT 2B4; hyodeoxycholic acid-specific UDPGT; UDP
                     glucuronosyltransferase 2 family, polypeptide B4"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 2B4 isoform 1
                     precursor"
                     /protein_id="NP_066962.2"
                     /db_xref="CCDS:CCDS43234.1"
                     /db_xref="GeneID:7363"
                     /db_xref="HGNC:HGNC:12553"
                     /db_xref="MIM:600067"
                     /translation="MSMKWTSALLLIQLSCYFSSGSCGKVLVWPTEFSHWMNIKTILD
                     ELVQRGHEVTVLASSASISFDPNSPSTLKFEVYPVSLTKTEFEDIIKQLVKRWAELPK
                     DTFWSYFSQVQEIMWTFNDILRKFCKDIVSNKKLMKKLQESRFDVVLADAVFPFGELL
                     AELLKIPFVYSLRFSPGYAIEKHSGGLLFPPSYVPVVMSELSDQMTFIERVKNMIYVL
                     YFEFWFQIFDMKKWDQFYSEVLGRPTTLSETMAKADIWLIRNYWDFQFPHPLLPNVEF
                     VGGLHCKPAKPLPKEMEEFVQSSGENGVVVFSLGSMVSNTSEERANVIASALAKIPQK
                     VLWRFDGNKPDTLGLNTRLYKWIPQNDLLGHPKTRAFITHGGANGIYEAIYHGIPMVG
                     VPLFADQPDNIAHMKAKGAAVSLDFHTMSSTDLLNALKTVINDPLYKENAMKLSRIHH
                     DQPVKPLDRAVFWIEFVMRHKGAKHLRVAAHDLTWFQYHSLDVTGFLLACVATVIFII
                     TKCLFCVWKFVRTGKKGKRD"
     exon            766..914
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1046
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1134
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1354
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..2100
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1666..1671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /note="hexamer: AATGAA"
     polyA_site      1696
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
     regulatory      2082..2087
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /note="hexamer: AATAAA"
     polyA_site      2100
                     /gene="UGT2B4"
                     /gene_synonym="HLUG25; UDPGT2B4; UDPGTh-1; UDPGTH1;
                     UGT2B11"
                     /note="major polyA site"
ORIGIN      
        1 agaaaggagc agcaactgga aaacaagcat tgcattgcat caggatgtct atgaaatgga
       61 cttcagctct tctgctgata cagctgagct gttactttag ctctgggagt tgtggaaagg
      121 tgctggtgtg gcccacagaa ttcagccact ggatgaatat aaagacaatc ctggatgaac
      181 ttgtccagag aggtcatgag gtgactgtat tggcatcttc agcttccatt tctttcgatc
      241 ccaacagccc atctactctt aaatttgaag tttatcctgt atctttaact aaaactgagt
      301 ttgaggatat tatcaagcag ctggttaaga gatgggcaga acttccaaaa gacacatttt
      361 ggtcatattt ttcacaagta caagaaatca tgtggacatt taatgacata cttagaaagt
      421 tctgtaagga tatagtttca aataagaaac ttatgaagaa actacaggag tcaagatttg
      481 atgttgttct tgcagatgct gttttcccct ttggtgagct gctggccgag ttacttaaaa
      541 taccctttgt ctacagcctc cgcttctctc ctggctacgc aattgaaaag catagtggag
      601 gacttctgtt ccctccttcc tatgtgcctg ttgttatgtc agaactaagt gaccaaatga
      661 ctttcataga gagggtaaaa aatatgatct atgtgcttta ttttgaattt tggttccaaa
      721 tatttgacat gaagaagtgg gatcagttct acagtgaagt tctaggaaga cccactacgt
      781 tatctgagac aatggcaaaa gctgacatat ggcttattcg aaactactgg gattttcaat
      841 ttcctcaccc actcttacca aatgttgagt tcgttggagg actccactgc aaacctgcca
      901 aacccctacc gaaggaaatg gaagagtttg tccagagctc tggagaaaat ggtgttgtgg
      961 tgttttctct ggggtcgatg gtcagtaaca cgtcagaaga aagggccaat gtaattgcat
     1021 cagcccttgc caagatccca caaaaggttc tgtggagatt tgatgggaat aaaccagata
     1081 ctttaggact caatactcgg ctgtacaagt ggatacccca gaatgatctt cttggtcacc
     1141 caaaaaccag agcttttata actcatggtg gagccaatgg catctatgag gcaatctacc
     1201 atggaatccc tatggtgggc gttccattgt ttgcagatca acctgataac attgcacaca
     1261 tgaaggccaa gggagcagct gttagtttgg acttccacac aatgtcgagt acagacttac
     1321 tcaatgcact gaagacagta attaatgatc ctttatataa agagaatgct atgaaattat
     1381 caagaattca tcatgatcaa ccagtgaagc cccttgatcg agcagtcttc tggattgaat
     1441 ttgtcatgcg ccataaagga gccaagcacc ttcgggttgc agcccacgac ctcacctggt
     1501 tccagtacca ctctttggat gtgactgggt tcctgctggc ctgtgtggca actgtgatat
     1561 tcatcatcac aaaatgtctg ttttgtgtct ggaagtttgt tagaacagga aagaagggga
     1621 aaagagatta attacgtctg aggctggaag ctgggaaacc caataaatga actcctttag
     1681 tttattacaa caagaagacg ttgtgataca agagattcct ttcttcttgt gacaaaacat
     1741 ctttcaaaac ttaccttgtc aagtcaaaat ttgttttagt acctgtttaa ccattagaaa
     1801 tatttcatgt caaggaggaa aacattaggg aaaacaaaaa tgatataaag ccatatgagg
     1861 ttatattgaa atgtattgag cttatattga aatttattgt tccaattcac aggttacatg
     1921 aaaaaaaatt tactaagctt aactacatgt cacacattgt acatggaaac aagaacatta
     1981 agaagtccac tgacagtatc agtactgttt tgcaaatact cagcatactt tggatccatt
     2041 tcatgcagga ttgtgttgtt ttaactgttg ttgaggaagc taataaataa ttaaattgta
//
