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    UGT2B7 UDP glucuronosyltransferase family 2 member B7 [ Homo sapiens (human) ]

    Gene ID: 7364, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UGT2B7provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase family 2 member B7provided by HGNC
    Primary source
    HGNC:HGNC:12554
    See related
    Ensembl:ENSG00000171234 MIM:600068; AllianceGenome:HGNC:12554
    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
    UGT2B9; UDPGTH2; UDPGT2B7; UDPGTh-2; UDPGT 2B7; UDPGT 2B9
    Summary
    The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
    Expression
    Biased expression in kidney (RPKM 335.9), liver (RPKM 240.7) and 2 other tissues See more
    Orthologs
    all
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    Genomic context

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    See UGT2B7 in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (69051375..69112987)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (72492136..72553482)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (69917093..69978705)

    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 B26, pseudogene Neighboring gene uncharacterized LOC105377265 Neighboring gene MPRA-validated peak5046 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15466 Neighboring gene UGT2B7 (B) eExon liver enhancer Neighboring gene FOXA motif-containing MPRA enhancer 238 Neighboring gene SPOPL pseudogene 1 Neighboring gene UDP-glucuronosyltransferase 2A1-like

    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 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. Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene. Innocenti F, et al. Pharmacogenet Genomics, 2008 Aug. PMID 18622261, Free PMC Article
    2. Influence of uridine diphosphate glucuronosyltransferase 2B7 -161C>T polymorphism on the concentration of valproic acid in pediatric epilepsy patients. Inoue K, et al. Ther Drug Monit, 2014 Jun. PMID 24365988
    3. Extensive protein-protein interactions involving UDP-glucuronosyltransferase (UGT) 2B7 in human liver microsomes. Fujiwara R, et al. Drug Metab Pharmacokinet, 2014. PMID 24366439
    4. Polymorphisms and haplotypes of the UDP-glucuronosyltransferase 2B7 gene promoter. Hu DG, et al. Drug Metab Dispos, 2014 May. PMID 24561451
    5. Effect of UGT2B7 -900G>A (-842G>A; rs7438135) on morphine glucuronidation in preterm newborns: results from a pilot cohort. Matic M, et al. Pharmacogenomics, 2014. PMID 25340733

    See all (195) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impact of UGT1A4 and UGT2B7 polymorphisms on lamotrigine plasma concentration in patients with bipolar disorder.
      Title: Impact of UGT1A4 and UGT2B7 polymorphisms on lamotrigine plasma concentration in patients with bipolar disorder.
    2. Influence of UDP-Glucuronosyltransferase Polymorphisms on Mycophenolic Acid Metabolism in Renal Transplant Patients.
      Title: Influence of UDP-Glucuronosyltransferase Polymorphisms on Mycophenolic Acid Metabolism in Renal Transplant Patients.
    3. Bearing variant alleles at uridine glucuronosyltransferase polymorphisms UGT2B7 -161C > T (rs7668258) or UGT1A4*3 c.142 T > G (rs2011425) has no relevant consequences for lamotrigine troughs in adults with epilepsy.
      Title: Bearing variant alleles at uridine glucuronosyltransferase polymorphisms UGT2B7 -161C > T (rs7668258) or UGT1A4*3 c.142 T > G (rs2011425) has no relevant consequences for lamotrigine troughs in adults with epilepsy.
    4. Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma.
      Title: Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma.
    5. Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma Concentration in Patients with Epilepsy.
      Title: Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma Concentration in Patients with Epilepsy.
    6. Metabolism and Toxicity of Emodin: Genome-Wide Association Studies Reveal Hepatocyte Nuclear Factor 4alpha Regulates UGT2B7 and Emodin Glucuronidation.
      Title: Metabolism and Toxicity of Emodin: Genome-Wide Association Studies Reveal Hepatocyte Nuclear Factor 4α Regulates UGT2B7 and Emodin Glucuronidation.
    7. The N(6)-methyladenosine modification posttranscriptionally regulates hepatic UGT2B7 expression.
      Title: The N(6)-methyladenosine modification posttranscriptionally regulates hepatic UGT2B7 expression.
    8. UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
      Title: UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
    9. Association between sex hormones regulation-related SNP rs12233719 and lung cancer risk among never-smoking Chinese women.
      Title: Association between sex hormones regulation-related SNP rs12233719 and lung cancer risk among never-smoking Chinese women.
    10. Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.
      Title: Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.
    Submit: New GeneRIF Correction See all GeneRIFs (133)

    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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 
    enables glucuronosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    NOT enables retinoic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in androgen metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UDP-glucuronosyltransferase 2B7
    Names
    3,4-catechol estrogen specific
    3,4-catechol estrogen-specific UDPGT
    UDP glucuronosyltransferase 2 family, polypeptide B7
    UDP-glucuronosyltransferase 2B9
    UDP-glucuronyltransferase, family 2, beta-7
    NP_001065.2
    NP_001317648.1
    NP_001336497.1

    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_001074.4 → NP_001065.2  UDP-glucuronosyltransferase 2B7 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001065.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK313190, AW614236, BC030974
      Consensus CDS
      CCDS3526.1
      UniProtKB/Swiss-Prot
      B2R810, P16662, Q6GTW0
      Related
      ENSP00000304811.7, ENST00000305231.12
      Conserved Domains (1) summary
      pfam00201
      Location:24 → 525
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    2. NM_001330719.2 → NP_001317648.1  UDP-glucuronosyltransferase 2B7 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK313190, AW614236, BC030974
      Consensus CDS
      CCDS82930.1
      UniProtKB/TrEMBL
      A0A087X084, E9PBP8
      Related
      ENSP00000427659.1, ENST00000508661.5
      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 ...

    3. NM_001349568.2 → NP_001336497.1  UDP-glucuronosyltransferase 2B7 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC111000, AW614236
      Conserved Domains (1) summary
      pfam00201
      Location:1 → 276
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      69051375..69112987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      72492136..72553482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16662.2 GenPept UniProtKB/Swiss-Prot:P16662

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