Aliases for UGT2A2 Gene

Aliases for UGT2A2 Gene

  • UDP Glucuronosyltransferase Family 2 Member A2 2 3 5
  • UDP Glucuronosyltransferase 2 Family, Polypeptide A2 2 3
  • UDP-Glucuronosyltransferase 2A2 3 4
  • UDPGT 2A2 3 4
  • EC 2.4.1.17 4
  • UGT2A2 5

External Ids for UGT2A2 Gene

Previous GeneCards Identifiers for UGT2A2 Gene

  • GC04U900457
  • GC04M070489
  • GC04M070455

Summaries for UGT2A2 Gene

GeneCards Summary for UGT2A2 Gene

UGT2A2 (UDP Glucuronosyltransferase Family 2 Member A2) is a Protein Coding gene. Diseases associated with UGT2A2 include Crigler-Najjar Syndrome, Type I and Gilbert Syndrome. Among its related pathways are Drug metabolism - cytochrome P450 and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT2A1.

UniProtKB/Swiss-Prot Summary for UGT2A2 Gene

  • UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:19858781, PubMed:18719240, PubMed:23756265, PubMed:23288867). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:19858781, PubMed:23756265). Catalyzes the glucuronidation of endogenous estrogen hormone estradiol (PubMed:18719240, PubMed:23288867). Contributes to bile acid (BA) detoxification by catalyzing the glucuronidation of BA substrates, which are natural detergents for dietary lipids absorption (PubMed:23756265). Shows a potential role in detoxification of toxic waste compounds in the amniotic fluid before birth, and air-born chemical after birth (PubMed:19858781).

Gene Wiki entry for UGT2A2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UGT2A2 Gene

Genomics for UGT2A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UGT2A2 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
GH04J069594 Promoter 0.6 EPDnew 250.3 +44.9 44949 0.1 HOMEZ FOXA2 HNF4A ZNF644 GATAD2A SOX13 UGT2A2 ENSG00000251177 LOC100422024 lnc-UGT2B4-2 UGT2A1 UGT2B4
GH04J069748 Enhancer 0.9 FANTOM5 Ensembl ENCODE 3.6 -111.0 -111046 6.6 CEBPA CEBPB EP300 FOXA2 RXRA STAT3 SPI1 POLR2A HNF4A CEBPG SULT1B1 CSN1S1 SULT1E1 UGT2A2 HSALNG0034989 piR-36393-391 UGT2A1
GH04J069829 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.8 -191.9 -191949 6.4 BCLAF1 SSRP1 CEBPA CHD4 YY1 BCL11A FOXA1 KLF11 HOMEZ CTCF HSALNG0034990 SULT1B1 SULT1E1 CSN1S1 UGT2A2 piR-36921-029 HSALNG0034991 ENSG00000284695
GH04J069649 Enhancer 0.4 Ensembl 5.3 -9.7 -9659 1.4 PRDM10 NRF1 GATA2 UGT2B4 UGT2A2 UGT2A1
GH04J069647 Promoter 0.3 EPDnew 0.4 -8.0 -8012 0.1 UGT2A1 UGT2A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UGT2A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UGT2A2

Top Transcription factor binding sites by QIAGEN in the UGT2A2 gene promoter:
  • Cdc5
  • E47
  • Hlf
  • HSF2
  • oct-B3
  • POU2F1
  • POU2F1a
  • Sox5
  • STAT5A
  • Tal-1beta

Genomic Locations for UGT2A2 Gene

Latest Assembly
chr4:69,588,417-69,639,642
(GRCh38/hg38)
Size:
51,226 bases
Orientation:
Minus strand

Previous Assembly
chr4:70,454,135-70,505,360
(GRCh37/hg19 by Entrez Gene)
Size:
51,226 bases
Orientation:
Minus strand

chr4:70,454,135-70,505,360
(GRCh37/hg19 by Ensembl)
Size:
51,226 bases
Orientation:
Minus strand

Genomic View for UGT2A2 Gene

Genes around UGT2A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT2A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT2A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT2A2 Gene

Proteins for UGT2A2 Gene

  • Protein details for UGT2A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DTE5-UD2A2_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 2A2
    Protein Accession:
    P0DTE5
    Secondary Accessions:
    • B4E2F4
    • D3GER1
    • D3GER2
    • E9PDM7
    • J3KNA3
    • Q9Y4X1

    Protein attributes for UGT2A2 Gene

    Size:
    536 amino acids
    Molecular mass:
    60772 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • UGT2A2 isoform is part of the UGT2A complex locus which displays alternative use of promoters and exons. The locus is defined by 2 alternative promoters resulting in 2 fonctionally active polypeptides UGT2A1 and UGT2A2. Alternative splicing of exons results in additional isoforms for each protein class.

    Alternative splice isoforms for UGT2A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT2A2 Gene

Post-translational modifications for UGT2A2 Gene

  • Glycosylation at Asn58, Asn356, and Asn322

Other Protein References for UGT2A2 Gene

No data available for DME Specific Peptides for UGT2A2 Gene

Domains & Families for UGT2A2 Gene

Gene Families for UGT2A2 Gene

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

Protein Domains for UGT2A2 Gene

Graphical View of Domain Structure for InterPro Entry

P0DTE5

UniProtKB/Swiss-Prot:

UD2A2_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT2A2: view

No data available for Suggested Antigen Peptide Sequences for UGT2A2 Gene

Function for UGT2A2 Gene

Molecular function for UGT2A2 Gene

UniProtKB/Swiss-Prot Function:
UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:19858781, PubMed:18719240, PubMed:23756265, PubMed:23288867). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:19858781, PubMed:23756265). Catalyzes the glucuronidation of endogenous estrogen hormone estradiol (PubMed:18719240, PubMed:23288867). Contributes to bile acid (BA) detoxification by catalyzing the glucuronidation of BA substrates, which are natural detergents for dietary lipids absorption (PubMed:23756265). Shows a potential role in detoxification of toxic waste compounds in the amniotic fluid before birth, and air-born chemical after birth (PubMed:19858781).
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; Evidence={ECO:0000269|PubMed:18719240, ECO:0000269|PubMed:19858781, ECO:0000269|PubMed:23288867, ECO:0000269|PubMed:23756265};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17alpha-estradiol + UDP-alpha-D-glucuronate = 17alpha-estradiol 3-O-(beta-D-glucuronate) + H(+) + UDP; Xref=Rhea:RHEA:52868, ChEBI:CHEBI:15378, ChEBI:CHEBI:17160, ChEBI:CHEBI:57529, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223; Evidence={ECO:0000269|PubMed:18719240, ECO:0000269|PubMed:23288867};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol + UDP-alpha-D-glucuronate = 17beta-estradiol 3-O-(beta-D-glucuronate) + H(+) + UDP; Xref=Rhea:RHEA:52460, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:136641; Evidence={ECO:0000269|PubMed:18719240};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=chenodeoxycholate + UDP-alpha-D-glucuronate = chenodeoxycholoyl-24-O-(beta-D-glucuronate) + UDP; Xref=Rhea:RHEA:52940, ChEBI:CHEBI:36234, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:136899; Evidence={ECO:0000269|PubMed:23756265};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=lithocholate + UDP-alpha-D-glucuronate = lithocholoyl-24-O-(beta-D-glucuronate) + UDP; Xref=Rhea:RHEA:52952, ChEBI:CHEBI:29744, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:136902; Evidence={ECO:0000269|PubMed:23756265};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=deoxycholate + UDP-alpha-D-glucuronate = deoxycholoyl-24-O-(beta-D-glucuronate) + UDP; Xref=Rhea:RHEA:52948, ChEBI:CHEBI:23614, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:136901; Evidence={ECO:0000269|PubMed:23756265};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hyocholate + UDP-alpha-D-glucuronate = hyocholoyl-24-O-(beta-D-glucuronate) + UDP; Xref=Rhea:RHEA:52960, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:133661, ChEBI:CHEBI:136904; Evidence={ECO:0000269|PubMed:23756265};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hyodeoxycholate + UDP-alpha-D-glucuronate = H(+) + hyodeoxycholate 6-O-(beta-D-glucuronate) + UDP; Xref=Rhea:RHEA:52964, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:58875, ChEBI:CHEBI:136905; Evidence={ECO:0000269|PubMed:23756265};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=45.4 uM for 17beta-estradiol/estradiol (when assaying glucuronidation at position 3) {ECO:0000269|PubMed:18719240}; KM=55.1 uM for UDP-glucuronate (with 4-methyl-umbelliferone as substrate) {ECO:0000269|PubMed:19858781}; KM=4469 uM for 4-nitrophenol {ECO:0000269|PubMed:19858781}; KM=2998 uM for 4-methyl-umbelliferone {ECO:0000269|PubMed:19858781}; KM=245 uM for 4-phenylphenol {ECO:0000269|PubMed:19858781}; KM=3442.9 uM for cholate (when assaying glucuronidation at position 24) {ECO:0000269|PubMed:23756265}; KM=143.6 uM for chenodeoxycholate (when assaying glucuronidation at position 24) {ECO:0000269|PubMed:23756265}; KM=107.1 uM for lithocholate (when assaying glucuronidation at position 3) {ECO:0000269|PubMed:23756265}; KM=113.7 uM for lithocholate (when assaying glucuronidation at position 24) {ECO:0000269|PubMed:23756265}; KM=178.3 uM for deoxycholate (when assaying glucuronidation at position 3) {ECO:0000269|PubMed:23756265}; KM=189 uM for deoxycholate (when assaying glucuronidation at position 24) {ECO:0000269|PubMed:23756265}; KM=150.4 uM for hyodeoxycholate (when assaying glucuronidation at position 6) {ECO:0000269|PubMed:23756265}; KM=226.1 uM for hyodeoxycholate (when assaying glucuronidation at position 24) {ECO:0000269|PubMed:23756265}; KM=222.4 uM for hyocholate (when assaying glucuronidation at position 6) {ECO:0000269|PubMed:23756265}; KM=465.8 uM for hyocholate (when assaying glucuronidation at position 24) {ECO:0000269|PubMed:23756265}; Vmax=29.7 pmol/min/mg enzyme for the formation of 17alpha-estradiol 3-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23288867}; Vmax=4 pmol/min/mg enzyme for the formation of 17beta-estradiol 3-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23288867}; Vmax=1.8 pmol/min/mg enzyme for the formation of 17alpha-estradiol 17-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23288867}; Vmax=1.4 pmol/min/mg enzyme for the formation of 16alpha,17alpha-estriol 17-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23288867}; Vmax=70 pmol/min/mg enzyme for the formation of 17alpha-estradiol 3-O-(beta-D-glucuronate) {ECO:0000269|PubMed:18719240}; Vmax=62.8 pmol/min/mg enzyme for the formation of 17beta-estradiol 3-O-(beta-D-glucuronate) {ECO:0000269|PubMed:18719240}; Vmax=69 pmol/min/mg enzyme with 4-nitrophenol as substrate {ECO:0000269|PubMed:19858781}; Vmax=39 pmol/min/mg enzyme with 4-methyl-umbelliferone as substrate {ECO:0000269|PubMed:19858781}; Vmax=124 pmol/min/mg enzyme with 4-phenylphenol as substrate {ECO:0000269|PubMed:19858781}; Vmax=2621.7 pmol/min/mg enzyme for the formation of choloyl-24-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=805 pmol/min/mg enzyme for the formation of chenodeoxycholoyl-24-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=61.7 pmol/min/mg enzyme for the formation of lithocholoyl-3-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=265.1 pmol/min/mg enzyme for the formation of lithocholoyl-24-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=8.3 pmol/min/mg enzyme for the formation of deoxycholoyl-3-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=196.7 pmol/min/mg enzyme for the formation of deoxycholoyl-24-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=1373.3 pmol/min/mg enzyme for the formation of hyodeoxycholate 6-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=28.3 pmol/min/mg enzyme for the formation of hyocholoyl-24-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=65.1 pmol/min/mg enzyme for the formation of hyocholate 6-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265}; Vmax=911.7 pmol/min/mg enzyme for the formation of hyocholoyl-24-O-(beta-D-glucuronate) {ECO:0000269|PubMed:23756265};

Enzyme Numbers (IUBMB) for UGT2A2 Gene

Phenotypes From GWAS Catalog for UGT2A2 Gene

Gene Ontology (GO) - Molecular Function for UGT2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008194 UDP-glycosyltransferase activity IEA --
GO:0015020 glucuronosyltransferase activity IEA,IDA 19858781
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UGT2A2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT2A2

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UGT2A2 Gene

Localization for UGT2A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT2A2 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UGT2A2 gene
Compartment Confidence
peroxisome 3
golgi apparatus 3
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
cytoskeleton 0

Gene Ontology (GO) - Cellular Components for UGT2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UGT2A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGT2A2 Gene

Pathways & Interactions for UGT2A2 Gene

genes like me logo Genes that share pathways with UGT2A2: view

Interacting Proteins for UGT2A2 Gene

Gene Ontology (GO) - Biological Process for UGT2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007608 sensory perception of smell IEA --
GO:0008206 bile acid metabolic process IDA 23756265
GO:0050896 response to stimulus IEA --
GO:0052695 cellular glucuronidation IDA 19858781
genes like me logo Genes that share ontologies with UGT2A2: view

No data available for SIGNOR curated interactions for UGT2A2 Gene

Drugs & Compounds for UGT2A2 Gene

No Compound Related Data Available

Transcripts for UGT2A2 Gene

mRNA/cDNA for UGT2A2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT2A2

Alternative Splicing Database (ASD) splice patterns (SP) for UGT2A2 Gene

No ASD Table

Relevant External Links for UGT2A2 Gene

GeneLoc Exon Structure for
UGT2A2

Expression for UGT2A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UGT2A2 Gene

Protein differential expression in normal tissues from HIPED for UGT2A2 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 UGT2A2 Gene



Protein tissue co-expression partners for UGT2A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGT2A2

mRNA Expression by UniProt/SwissProt for UGT2A2 Gene:

P0DTE5-UD2A2_HUMAN
Tissue specificity: Mainly expressed in the nasal mucosa.

Evidence on tissue expression from TISSUES for UGT2A2 Gene

  • Lung(4.3)
  • Nervous system(4.2)
  • Intestine(2.5)
  • Liver(2.4)
genes like me logo Genes that share expression patterns with UGT2A2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT2A2 Gene

Orthologs for UGT2A2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for UGT2A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UGT2A1 29
  • 99.75 (n)
-- 30
  • 58 (a)
ManyToMany
-- 30
  • 58 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Ugt2a2 29 16
  • 85.21 (n)
Ugt2b5 30
  • 56 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 77 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 70 (a)
ManyToMany
Species where no ortholog for UGT2A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for UGT2A2 Gene

ENSEMBL:
Gene Tree for UGT2A2 (if available)
TreeFam:
Gene Tree for UGT2A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UGT2A2: view image
Alliance of Genome Resources:
Additional Orthologs for UGT2A2

Paralogs for UGT2A2 Gene

(31) SIMAP similar genes for UGT2A2 Gene using alignment to 2 proteins:

  • S4R3I0_HUMAN
  • S4R436_HUMAN
genes like me logo Genes that share paralogs with UGT2A2: view

Variants for UGT2A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UGT2A2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs139303872 Likely Benign: not provided 69,589,587(-) G/A
NM_001105677.2(UGT2A2):c.1396C>T (p.Arg466Ter)
NONSENSE
rs146749264 Benign: not provided 69,594,611(-) T/A
NM_001105677.2(UGT2A2):c.1197A>T (p.Gly399=)
SYNONYMOUS
rs146912371 Likely Benign: not provided 69,595,226(-) C/A
NM_001105677.2(UGT2A2):c.1047G>T (p.Lys349Asn)
MISSENSE
rs150848863 Benign: not provided 69,594,602(-) C/T
NM_001105677.2(UGT2A2):c.1206G>A (p.Met402Ile)
MISSENSE
rs541627076 Likely Benign: not provided 69,595,205(-) G/A
NM_001105677.2(UGT2A2):c.1068C>T (p.Asn356=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UGT2A2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UGT2A2 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 UGT2A2 Gene

Residual Variation Intolerance Score: 90.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.46; 82.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT2A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT2A2
Leiden Open Variation Database (LOVD)
UGT2A2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT2A2 Gene

Disorders for UGT2A2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UGT2A2 Gene - From: COP

Disorder Aliases PubMed IDs
crigler-najjar syndrome, type i
  • hyperbilirubinemia, crigler-najjar type i; hblrcn1
gilbert syndrome
  • hyperbilirubinemia, gilbert type; hblrg
bilirubin metabolic disorder
  • hereditary hyperbilirubinemia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UGT2A2

genes like me logo Genes that share disorders with UGT2A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGT2A2 Gene

Publications for UGT2A2 Gene

  1. The Human UDP-glucuronosyltransferase UGT2A1 and UGT2A2 enzymes are highly active in bile acid glucuronidation. (PMID: 23756265) Perreault M … Barbier O (Drug metabolism and disposition: the biological fate of chemicals 2013) 3 4
  2. 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
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  4. Nomenclature update for the mammalian UDP glycosyltransferase (UGT) gene superfamily. (PMID: 16141793) Mackenzie PI … Nebert DW (Pharmacogenetics and genomics 2005) 3 22
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for UGT2A2 Gene

Sources for UGT2A2 Gene