UGT2A1 (UDP glucuronosyltransferase family 2 member A1 complex locus)

2013-02-01  

Identity

HGNC
UGT2A1
LOCATION
4q13.3
LOCUSID
10941
ALIAS
UDPGT2A1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10941
MIM: 604716
HGNC: 12542
Ensembl: ENSG00000173610

Variants:

dbSNP: 10941
ClinVar: 10941
TCGA: ENSG00000173610
COSMIC: UGT2A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173610ENST00000286604Q9Y4X1
ENSG00000173610ENST00000503640Q9Y4X1
ENSG00000173610ENST00000505512D6RHF3
ENSG00000173610ENST00000512704D6RFW5
ENSG00000173610ENST00000514019A0A140T9Z0

Expression (GTEx)

0
1
2
3
4
5
6
7
8
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
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
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10804imatinibChemicalClinicalAnnotationassociatedPD30237583
PA151958383Gastrointestinal Stromal TumorsDiseaseClinicalAnnotationassociatedPD30237583

References

Pubmed IDYearTitleCitations
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
198587812009Human UDP-glucuronosyltransferase UGT2A2: cDNA construction, expression, and functional characterization in comparison with UGT2A1 and UGT2A3.15
211643882011Characterization of UDP-glucuronosyltransferase 2A1 (UGT2A1) variants and their potential role in tobacco carcinogenesis.14
237562652013The Human UDP-glucuronosyltransferase UGT2A1 and UGT2A2 enzymes are highly active in bile acid glucuronidation.8
229842252012Identification and functional characterization of a novel UDP-glucuronosyltransferase 2A1 splice variant: potential importance in tobacco-related cancer susceptibility.7
123767382002Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8.6
308503922019Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p.5
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3
296352522018Study of the Association of PEAR1, P2Y12, and UGT2A1 Polymorphisms with Platelet Reactivity in Response to Dual Antiplatelet Therapy in Chinese Patients.3

Citation

Dessen P

UGT2A1 (UDP glucuronosyltransferase family 2 member A1 complex locus)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53170/ugt2a1