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

Gene ID: 7364, updated on 14-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. UGT2B7 promoter variant -840G>A contributes to the variability in hepatic clearance of morphine in patients with sickle cell disease. Darbari DS, et al. Am J Hematol, 2008 Mar. PMID 17724700
  2. In vitro glucuronidation of aprepitant: a moderate inhibitor of UGT2B7. House L, et al. Xenobiotica, 2015. PMID 26053558, Free PMC Article
  3. The influence of UGT2B7 genotype on valproic acid pharmacokinetics in Chinese epilepsy patients. Sun YX, et al. Epilepsy Res, 2015 Aug. PMID 26088889
  4. Genetic polymorphism in UDP-glucuronosyltransferase 2B7 and colorectal cancer risk. van der Logt EM, et al. Oncol Res, 2009. PMID 19408577
  5. 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

See all (198) 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)

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

Gene LinkOut

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