The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous comp... See more...

Aliases for UGT2A1 Gene

Aliases for UGT2A1 Gene

  • UDP Glucuronosyltransferase Family 2 Member A1 Complex Locus 2 3 5
  • UDP Glucuronosyltransferase 2 Family, Polypeptide A1, Complex Locus 2 3
  • UDP Glycosyltransferase 2 Family, Polypeptide A1 2 3
  • UDP-Glucuronosyltransferase 2A1 3 4
  • EC 2.4.1.17 4 52
  • Uridine Diphosphate Glycosyltransferase 2 Family, Member A1 3
  • UDPGT 2A1 4
  • UDPGT2A1 3
  • UGT2A2 4

External Ids for UGT2A1 Gene

Previous GeneCards Identifiers for UGT2A1 Gene

  • GC04P070020
  • GC04M070503
  • GC04M070704
  • GC04M070770
  • GC04M070635
  • GC04M070454

Summaries for UGT2A1 Gene

Entrez Gene Summary for UGT2A1 Gene

  • The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014]

GeneCards Summary for UGT2A1 Gene

UGT2A1 (UDP Glucuronosyltransferase Family 2 Member A1 Complex Locus) is a Protein Coding gene. Among its related pathways are Drug metabolism - cytochrome P450 and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT2A2.

UniProtKB/Swiss-Prot Summary for UGT2A1 Gene

  • UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium.

Gene Wiki entry for UGT2A1 Gene

Additional gene information for UGT2A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UGT2A1 Gene

Genomics for UGT2A1 Gene

GeneHancer (GH) Regulatory Elements for UGT2A1 Gene

Promoters and enhancers for UGT2A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J069653 Promoter 0.3 EPDnew 500.7 0.0 -18 0.1 UGT2A1 piR-33605-328
GH04J069647 Promoter 0.3 EPDnew 500.4 +5.6 5595 0.1 UGT2A1 UGT2A2
GH04J069649 Enhancer 0.5 Ensembl 0.7 +3.9 3948 1.4 NRF1 GATA3 RCOR1 PRDM10 GATA1 GATA2 FOS UGT2B4 UGT2A2 UGT2A1
GH04J069594 Promoter 0.7 EPDnew 0.2 +58.6 58556 0.1 FOXA2 HOMEZ HNF4A ZNF644 GATAD2A FOXA1 SOX13 UGT2A2 ENSG00000251177 LOC100422024 lnc-UGT2B4-2 UGT2A1
GH04J069657 Enhancer 0.2 Ensembl 0.7 -3.9 -3852 0.2 UGT2A1 piR-33605-328
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UGT2A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UGT2A1

Top Transcription factor binding sites by QIAGEN in the UGT2A1 gene promoter:
  • Cdc5
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • STAT5A

Genomic Locations for UGT2A1 Gene

Genomic Locations for UGT2A1 Gene
chr4:69,588,417-69,653,249
(GRCh38/hg38)
Size:
64,833 bases
Orientation:
Minus strand
chr4:70,454,135-70,518,965
(GRCh37/hg19)
Size:
64,831 bases
Orientation:
Minus strand

Genomic View for UGT2A1 Gene

Genes around UGT2A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT2A1 Gene

Proteins for UGT2A1 Gene

  • Protein details for UGT2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4X1-UD2A1_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 2A1
    Protein Accession:
    Q9Y4X1
    Secondary Accessions:
    • B4E2F4
    • D3GER1
    • D3GER2
    • E9PDM7
    • J3KNA3

    Protein attributes for UGT2A1 Gene

    Size:
    527 amino acids
    Molecular mass:
    59926 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for UGT2A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT2A1 Gene

Selected DME Specific Peptides for UGT2A1 Gene

Q9Y4X1:
  • AFITHGG
  • SHWLNVK
  • HKGAKHLR
  • LLGHPKT
  • PQNDLLGHP
  • AAHDLTW
  • KPLDRAVFWIE
  • YWDFEFPRP
  • YEAIYHG
  • FVGGLHC
  • DVIGFLL
  • WIPQNDLLG
  • IPQKVLW
  • DQPDNIAHMK
  • VVFSLGSMV
  • VMRHKGA
  • LSRIHHDQP
  • QYHSLDV
  • VALKLGIPF

Post-translational modifications for UGT2A1 Gene

  • Glycosylation at Asn49, Asn347, and Asn313
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT2A1 Gene

Domains & Families for UGT2A1 Gene

Gene Families for UGT2A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for UGT2A1 Gene

Blocks:
  • UDP-glucoronosyl/UDP-glucosyl transferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UGT2A1 Gene

GenScript: Design optimal peptide antigens:
  • UDP-glucuronosyltransferase 2A1 (UD2A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4X1

UniProtKB/Swiss-Prot:

UD2A1_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT2A1: view

Function for UGT2A1 Gene

Molecular function for UGT2A1 Gene

UniProtKB/Swiss-Prot Function:
UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + H(+) + UDP; Xref=Rhea:RHEA:21032, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132367, ChEBI:CHEBI:132368; EC=2.4.1.17;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=75.4 uM for 3-hydroxybiphenyl {ECO:0000269 PubMed:10359671}; KM=59.5 uM for umbelliferone {ECO:0000269 PubMed:10359671}; KM=51.6 uM for S-(-)-b-citronellol {ECO:0000269 PubMed:10359671}; KM=170.1 uM for borneol {ECO:0000269 PubMed:10359671}; KM=56.2 uM for testosterone {ECO:0000269 PubMed:10359671}; KM=251 uM for UDP-glucuronate {ECO:0000269 PubMed:10359671}; Vmax=2.60 nmol/min/mg enzyme with 3-hydroxybiphenyl as substrate {ECO:0000269 PubMed:10359671}; Vmax=0.61 nmol/min/mg enzyme with umbelliferone as substrate {ECO:0000269 PubMed:10359671}; Vmax=1.98 nmol/min/mg enzyme with S-(-)-b-citronellol as substrate {ECO:0000269 PubMed:10359671}; Vmax=1.05 nmol/min/mg enzyme with borneol as substrate {ECO:0000269 PubMed:10359671}; Vmax=0.25 nmol/min/mg enzyme with testosterone as substrate {ECO:0000269 PubMed:10359671};
GENATLAS Biochemistry:
UDP glucoronosyltransferase 2 alpha 1,specific for the olfactory tissue

Enzyme Numbers (IUBMB) for UGT2A1 Gene

Phenotypes From GWAS Catalog for UGT2A1 Gene

Gene Ontology (GO) - Molecular Function for UGT2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008194 UDP-glycosyltransferase activity IBA 21873635
GO:0015020 glucuronosyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with UGT2A1: view
genes like me logo Genes that share phenotypes with UGT2A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for UGT2A1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UGT2A1 Gene

Localization for UGT2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT2A1 Gene

Membrane; Single-pass type I membrane protein.

Gene Ontology (GO) - Cellular Components for UGT2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with UGT2A1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for UGT2A1 Gene

Pathways & Interactions for UGT2A1 Gene

genes like me logo Genes that share pathways with UGT2A1: view

Gene Ontology (GO) - Biological Process for UGT2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007608 sensory perception of smell IEA --
GO:0009593 detection of chemical stimulus TAS 10359671
GO:0050896 response to stimulus IEA --
GO:0052695 cellular glucuronidation IDA 19858781
genes like me logo Genes that share ontologies with UGT2A1: view

No data available for SIGNOR curated interactions for UGT2A1 Gene

Drugs & Compounds for UGT2A1 Gene

(16) Drugs for UGT2A1 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
imatinib Approved Pharma Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Codeine Approved, Illicit Pharma Full agonist, Agonist 93
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1393
Estriol Approved, Investigational, Vet_approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 23

(80) Additional Compounds for UGT2A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-Dihdroxy-24-oxovitamine D3 23-(beta-glucuronoside)
  • (23S)-23,25-Dihydroxy-24-oxocholecalciferol 23-(beta-glucuronide)
  • (23S)-23,25-Dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-Cholestatriene-3,23,25-triol 23-D-glucuronide
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-Cholestatriene-3,23,25-triol 23-delta-glucuronide
1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid
  • (2S,3S,4S,5R,6S)-3,4,5-Trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) b-D-glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) b-delta-glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) beta-D-glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) beta-delta-glucopyranuronic acid
115075-59-7
11-beta-Hydroxyandrosterone-3-glucuronide
  • 11-beta-Hydroxyetiocholanolone-3-glucuronide
  • 11beta-Hydroxyandrosterone 3-glucuronide
11-Hydroxyprogesterone 11-glucuronide
  • 11-HPG
  • 11-Hydroxyprogesterone 11-glucuronoside
  • 11alpha-Glucuronylprogesterone
  • 11alpha-Hydroxyprogesterone 11-glucuronide
  • 11alpha-Hydroxyprogesterone 11-glucuronoside
77710-64-6
11-Oxo-androsterone glucuronide
  • 11-oxo-Etiocholanolone glucuronide
  • 11-Oxoandrosterone glucuronide
  • 11-Oxoetiocholanolone glucuronide
genes like me logo Genes that share compounds with UGT2A1: view

Transcripts for UGT2A1 Gene

mRNA/cDNA for UGT2A1 Gene

4 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGT2A1 Gene

No ASD Table

Relevant External Links for UGT2A1 Gene

GeneLoc Exon Structure for
UGT2A1

Expression for UGT2A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UGT2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UGT2A1 Gene

This gene is overexpressed in Nasal epithelium (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UGT2A1 Gene



Protein tissue co-expression partners for UGT2A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGT2A1

SOURCE GeneReport for Unigene cluster for UGT2A1 Gene:

Hs.225950

mRNA Expression by UniProt/SwissProt for UGT2A1 Gene:

Q9Y4X1-UD2A1_HUMAN
Tissue specificity: Olfactory epithelium and brain. Isoform 2 is mainly expressed in the nasal mucosa.

Evidence on tissue expression from TISSUES for UGT2A1 Gene

  • Lung(4.3)
  • Nervous system(4)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with UGT2A1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT2A1 Gene

Orthologs for UGT2A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT2A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ugt2a1 17 31 30
  • 85.31 (n)
rat
(Rattus norvegicus)
Mammalia Ugt2a1 30
  • 85.05 (n)
cow
(Bos Taurus)
Mammalia -- 31
  • 77 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 31
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 63 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii Dr.11419 30
fruit fly
(Drosophila melanogaster)
Insecta Ugt86Dc 32
  • 37 (a)
Ugt86Dd 32
  • 36 (a)
Ugt86Di 32
  • 35 (a)
Ugt86Dj 32
  • 35 (a)
Ugt86Dg 32
  • 35 (a)
Ugt86De 32
  • 34 (a)
Ugt35a 32
  • 34 (a)
CG6475 32
  • 33 (a)
Ugt35b 32
  • 32 (a)
BEST:GH09393 32
  • 32 (a)
Ugt86Da 32
  • 32 (a)
CG5999 32
  • 31 (a)
Ugt37c1 32
  • 30 (a)
BEST:GH06505 32
  • 30 (a)
Ugt36Bb 32
  • 28 (a)
Ugt37a1 32
  • 28 (a)
Ugt36Ba 32
  • 27 (a)
Ugt36Bc 32
  • 27 (a)
CG17323 32
  • 27 (a)
CG10168 32
  • 25 (a)
CG10170 32
  • 24 (a)
worm
(Caenorhabditis elegans)
Secernentea M88.1 32
  • 32 (a)
F39G3.1 32
  • 32 (a)
C17G1.3 32
  • 28 (a)
AC3.2 32
  • 27 (a)
C44H9.1 32
  • 27 (a)
F35H8.6 32
  • 27 (a)
F56B3.7 32
  • 27 (a)
T07C5.1a 32
  • 27 (a)
C33A12.6 32
  • 26 (a)
T03D3.1 32
  • 25 (a)
C10H11.5 32
  • 25 (a)
C10H11.4 32
  • 25 (a)
R04B5.9 32
  • 25 (a)
ZC443.5 32
  • 25 (a)
F01D4.1 32
  • 24 (a)
T19H12.11 32
  • 24 (a)
F47C10.6 32
  • 24 (a)
C03A7.11 32
  • 23 (a)
C08B6.1 32
  • 23 (a)
F01D4.2 32
  • 23 (a)
Species where no ortholog for UGT2A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for UGT2A1 Gene

ENSEMBL:
Gene Tree for UGT2A1 (if available)
TreeFam:
Gene Tree for UGT2A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UGT2A1: view image

Paralogs for UGT2A1 Gene

(30) SIMAP similar genes for UGT2A1 Gene using alignment to 3 proteins:

  • UD2A1_HUMAN
  • D6RFW5_HUMAN
  • D6RHF3_HUMAN
genes like me logo Genes that share paralogs with UGT2A1: view

Variants for UGT2A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UGT2A1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
717876 Likely Benign: not provided 69,595,226(-) C/A MISSENSE_VARIANT
738812 Likely Benign: not provided 69,595,205(-) G/A SYNONYMOUS_VARIANT
738813 Likely Benign: not provided 69,599,312(-) A/C SYNONYMOUS_VARIANT
773154 Benign: not provided 69,647,481(-) G/A MISSENSE_VARIANT
780463 Benign: not provided 69,594,602(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for UGT2A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for UGT2A1 Gene

Variant ID Type Subtype PubMed ID
dgv146n73 CNV deletion 24416366
dgv5318n100 CNV loss 25217958
dgv659n27 CNV loss 19166990
dgv9119n54 CNV loss 21841781
dgv9120n54 CNV gain 21841781
dgv9121n54 CNV loss 21841781
dgv9122n54 CNV loss 21841781
dgv9123n54 CNV gain 21841781
dgv9124n54 CNV loss 21841781
dgv9125n54 CNV loss 21841781
dgv93n16 CNV deletion 17901297
esv1001272 CNV deletion 20482838
esv24189 CNV loss 19812545
esv2658506 CNV deletion 23128226
esv33983 CNV gain+loss 17666407
esv3564042 CNV deletion 23714750
esv3569511 CNV loss 25503493
esv3600917 CNV loss 21293372
esv3600919 CNV loss 21293372
nsv1009165 CNV loss 25217958
nsv1074182 CNV deletion 25765185
nsv1122088 CNV deletion 24896259
nsv292823 CNV deletion 16902084
nsv4377 CNV deletion 18451855
nsv461552 CNV loss 19166990
nsv476466 CNV novel sequence insertion 20440878
nsv499046 CNV loss 21111241
nsv510892 OTHER complex 20534489
nsv511264 CNV loss 21212237
nsv514225 CNV loss 21397061
nsv521416 CNV loss 19592680
nsv594616 CNV loss 21841781
nsv594630 CNV loss 21841781
nsv594636 CNV loss 21841781
nsv594637 CNV loss 21841781
nsv594640 CNV loss 21841781
nsv822601 CNV loss 20364138
nsv966281 CNV duplication 23825009
nsv998374 CNV gain 25217958

Variation tolerance for UGT2A1 Gene

Residual Variation Intolerance Score: 93.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.69; 78.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT2A1 Gene

Human Gene Mutation Database (HGMD)
UGT2A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT2A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT2A1 Gene

Disorders for UGT2A1 Gene

Additional Disease Information for UGT2A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for UGT2A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UGT2A1 Gene

Publications for UGT2A1 Gene

  1. Cloning and characterization of a novel human olfactory UDP-glucuronosyltransferase. (PMID: 10359671) Jedlitschky G … Burchell B (The Biochemical journal 1999) 2 3 4 54
  2. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41 54
  3. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PMID: 19898482) Ross CJ … CPNDS Consortium (Nature genetics 2009) 3 41 54
  4. Human UDP-glucuronosyltransferase UGT2A2: cDNA construction, expression, and functional characterization in comparison with UGT2A1 and UGT2A3. (PMID: 19858781) Sneitz N … Finel M (Pharmacogenetics and genomics 2009) 3 4 54
  5. Study of the Association of PEAR1, P2Y12, and UGT2A1 Polymorphisms with Platelet Reactivity in Response to Dual Antiplatelet Therapy in Chinese Patients. (PMID: 29635252) Zhang S … Fang S (Cardiology 2018) 3 54

Products for UGT2A1 Gene

Sources for UGT2A1 Gene