UGT2B4 (UDP glucuronosyltransferase family 2 member B4)

2012-08-01  

Identity

HGNC
LOCATION
4q13.3
LOCUSID
ALIAS
HLUG25,UDPGT2B4,UDPGTH1,UDPGTh-1,UGT2B11
FUSION GENES

Other Information

Locus ID:

NCBI: 7363
MIM: 600067
HGNC: 12553
Ensembl: ENSG00000156096

Variants:

dbSNP: 7363
ClinVar: 7363
TCGA: ENSG00000156096
COSMIC: UGT2B4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156096ENST00000305107P06133
ENSG00000156096ENST00000510114D6RGY0
ENSG00000156096ENST00000512583P06133
ENSG00000156096ENST00000639621A0A1W2PQJ2

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Pentose and glucuronate interconversionsKEGGko00040
Ascorbate and aldarate metabolismKEGGko00053
Steroid hormone biosynthesisKEGGko00140
Retinol metabolismKEGGko00830
Porphyrin and chlorophyll metabolismKEGGko00860
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Drug metabolism - cytochrome P450KEGGko00982
Drug metabolism - other enzymesKEGGko00983
Pentose and glucuronate interconversionsKEGGhsa00040
Ascorbate and aldarate metabolismKEGGhsa00053
Steroid hormone biosynthesisKEGGhsa00140
Retinol metabolismKEGGhsa00830
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Drug metabolism - cytochrome P450KEGGhsa00982
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Glucuronate pathway (uronate pathway)KEGGM00014
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
Glucuronate pathway (uronate pathway)KEGGhsa_M00014
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
GlucuronidationREACTOMER-HSA-156588

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449957ibuprofenChemicalPathwayassociated25502615

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
128066252003FXR induces the UGT2B4 enzyme in hepatocytes: a potential mechanism of negative feedback control of FXR activity.36
128107072003Peroxisome proliferator-activated receptor alpha induces hepatic expression of the human bile acid glucuronidating UDP-glucuronosyltransferase 2B4 enzyme.29
153189312004UDP-glucuronosyltransferase and sulfotransferase polymorphisms, sex hormone concentrations, and tumor receptor status in breast cancer patients.24
216605082011A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.16
165134432006Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics.14
201422492010Associations between polymorphisms in glucuronidation and sulfation enzymes and mammographic breast density in premenopausal women in the United States.12
202148022010Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.11

Citation

Dessen P

UGT2B4 (UDP glucuronosyltransferase family 2 member B4)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52838/ugt2b4