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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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