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    UGT2B4 UDP glucuronosyltransferase family 2 member B4 [ Homo sapiens (human) ]

    Gene ID: 7363, updated on 5-Mar-2024

    Summary

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    Official Symbol
    UGT2B4provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase family 2 member B4provided by HGNC
    Primary source
    HGNC:HGNC:12553
    See related
    Ensembl:ENSG00000156096 MIM:600067; AllianceGenome:HGNC:12553
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HLUG25; UDPGTH1; UGT2B11; UDPGT2B4; UDPGTh-1
    Summary
    Enables glucuronosyltransferase activity. Involved in cellular glucuronidation and estrogen metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward liver (RPKM 259.3) See more
    Orthologs
    all
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    Genomic context

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    See UGT2B4 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (69480165..69526014, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (72814975..72860844, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (70345883..70391732, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 2 member B7 pseudogene Neighboring gene UDP glucuronosyltransferase family 2 member B24, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:70333407-70334146 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:70348366-70348559 Neighboring gene UDP glucuronosyltransferase family 2 member A3 pseudogene 7 Neighboring gene MPRA-validated peak5054 silencer Neighboring gene UDP glucuronosyltransferase family 2 member B7 pseudogene Neighboring gene MPRA-validated peak5055 silencer Neighboring gene UDP glucuronosyltransferase family 2 member A2 Neighboring gene UDP glucuronosyltransferase family 2 member A1 complex locus

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Distilling functional variations for human UGT2B4 upstream region based on selection signals and implications for phenotypes of Neanderthal and Denisovan. Wang PY, et al. Sci Rep, 2023 Feb 23. PMID 36823244, Free PMC Article
    2. Absence of significant association between UGT2B4 genetic variants and the susceptibility to anti-tuberculosis drug-induced liver injury in a Western Chinese population. Chen H, et al. J Clin Pharm Ther, 2021 Feb. PMID 32170986
    3. UGT2B4 previously implicated in the risk of breast cancer is associated with menarche timing in Ukrainian females. Yermachenko A, et al. Gene, 2016 Sep 15. PMID 27282283
    4. A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk. Sun C, et al. Hum Genet, 2011 Dec. PMID 21660508, Free PMC Article
    5. Extensive splicing of transcripts encoding the bile acid-conjugating enzyme UGT2B4 modulates glucuronidation. Lévesque E, et al. Pharmacogenet Genomics, 2010 Mar. PMID 20139797

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Distilling functional variations for human UGT2B4 upstream region based on selection signals and implications for phenotypes of Neanderthal and Denisovan.
      Title: Distilling functional variations for human UGT2B4 upstream region based on selection signals and implications for phenotypes of Neanderthal and Denisovan.
    2. Absence of significant association between UGT2B4 genetic variants and the susceptibility to anti-tuberculosis drug-induced liver injury in a Western Chinese population.
      Title: Absence of significant association between UGT2B4 genetic variants and the susceptibility to anti-tuberculosis drug-induced liver injury in a Western Chinese population.
    3. Clopidogrel carboxylic acid is metabolized mainly by UGT2B7 and UGT2B4 in the liver and by UGT2B17 in the small intestinal wall.
      Title: Clopidogrel Carboxylic Acid Glucuronidation is Mediated Mainly by UGT2B7, UGT2B4, and UGT2B17: Implications for Pharmacogenetics and Drug-Drug Interactions( ).
    4. UGT2B4 previously implicated in the risk of breast cancer is associated with menarche timing in Ukrainian females.
      Title: UGT2B4 previously implicated in the risk of breast cancer is associated with menarche timing in Ukrainian females.
    5. These data indicate that knocking down PAPSS increases UGT2B4 transcription and mRNA stability as a compensatory response to the loss of SULT2A1 activity
      Title: Upregulation of UGT2B4 Expression by 3'-Phosphoadenosine-5'-Phosphosulfate Synthase Knockdown: Implications for Coordinated Control of Bile Acid Conjugation.
    6. Methadone inhibits CYP2D6 and UGT2B7/2B4 in vivo
      Title: Methadone inhibits CYP2D6 and UGT2B7/2B4 in vivo: a study using codeine in methadone- and buprenorphine-maintained subjects.
    7. The UGT1A8 and UGT2B4 genotypes associated with decreased predicted enzyme activities, were significantly associated with an increased risk of esophageal squamous cell carcinoma.
      Title: High enzyme activity UGT1A1 or low activity UGT1A8 and UGT2B4 genotypes increase esophageal cancer risk.
    8. The variation pattern upstream UGT2B4 is highly unusual and may be the result of balancing selection.
      Title: A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    10. Extensive splicing of transcripts of the bile acid-conjugating enzyme UGT2B4 modulates glucuronidation.
      Title: Extensive splicing of transcripts encoding the bile acid-conjugating enzyme UGT2B4 modulates glucuronidation.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables retinoic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular glucuronidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular glucuronidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in estrogen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in estrogen metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UDP-glucuronosyltransferase 2B4
    Names
    UDP glucuronosyltransferase 2 family, polypeptide B4
    UDP-glucuronyltransferase, family 2, beta-4
    UDPGT 2B4
    hyodeoxycholic acid
    hyodeoxycholic acid-specific UDPGT
    NP_001284544.1
    NP_001284545.1
    NP_066962.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001297615.2 → NP_001284544.1  UDP-glucuronosyltransferase 2B4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001284544.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF064200, AJ005162, AY529122, BX494777
      Consensus CDS
      CCDS75137.1
      Related
      ENSP00000421290.1, ENST00000512583.5
      Conserved Domains (2) summary
      pfam00201
      Location:24 → 363
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
      cl10013
      Location:8 → 368
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    2. NM_001297616.2 → NP_001284545.1  UDP-glucuronosyltransferase 2B4 isoform 3

      See identical proteins and their annotated locations for NP_001284545.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AF064200, AK300084
      UniProtKB/Swiss-Prot
      P06133
      Conserved Domains (2) summary
      PHA03392
      Location:133 → 376
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:15 → 388
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    3. NM_021139.3 → NP_066962.2  UDP-glucuronosyltransferase 2B4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_066962.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF064200, BC026264, Y00317
      Consensus CDS
      CCDS43234.1
      UniProtKB/Swiss-Prot
      A6NCP7, B4DT75, G5E9X8, O60731, O60867, O75614, P06133, P36538, Q1HBF9, Q6QQX7
      Related
      ENSP00000305221.6, ENST00000305107.7
      Conserved Domains (2) summary
      PHA03392
      Location:8 → 512
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:24 → 524
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      69480165..69526014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      72814975..72860844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P06133.2 GenPept UniProtKB/Swiss-Prot:P06133

    Gene LinkOut

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