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    UGT2A2 UDP glucuronosyltransferase family 2 member A2 [ Homo sapiens (human) ]

    Gene ID: 574537, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UGT2A2provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase family 2 member A2provided by HGNC
    Primary source
    HGNC:HGNC:28183
    See related
    Ensembl:ENSG00000271271 MIM:619809; AllianceGenome:HGNC:28183
    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
    UDPGT 2A2
    Summary
    The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded 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. This gene shares exon structure with the UDP glucuronosyltransferase 2A1 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection. [provided by RefSeq, Jan 2022]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
    Expression
    Biased expression in kidney (RPKM 3.0), liver (RPKM 2.9) and 1 other tissue See more
    Orthologs
    all
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    Genomic context

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    See UGT2A2 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (69588417..69639642, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (72923224..72974440, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (70454135..70505360, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 2 member B4 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 A1 complex locus Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:70522042-70523241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:70608551-70609050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:70609253-70609754 Neighboring gene sulfotransferase family 1B member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:70609755-70610254 Neighboring gene sulfotransferase family 1D member 1, pseudogene

    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 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. Importance of UDP-glucuronosyltransferases 2A2 and 2A3 in tobacco carcinogen metabolism. Bushey RT, et al. Drug Metab Dispos, 2013 Jan. PMID 23086198, Free PMC Article
    2. The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste. Shelton JF, et al. Nat Genet, 2022 Feb. PMID 35039640
    3. Cloning and characterization of a novel human olfactory UDP-glucuronosyltransferase. Jedlitschky G, et al. Biochem J, 1999 Jun 15. PMID 10359671, Free PMC Article
    4. The Human UDP-glucuronosyltransferase UGT2A1 and UGT2A2 enzymes are highly active in bile acid glucuronidation. Perreault M, et al. Drug Metab Dispos, 2013 Sep. PMID 23756265, Free PMC Article
    5. Human UDP-glucuronosyltransferase UGT2A2: cDNA construction, expression, and functional characterization in comparison with UGT2A1 and UGT2A3. Sneitz N, et al. Pharmacogenet Genomics, 2009 Dec. PMID 19858781, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 
    Process Evidence Code Pubs
    involved_in bile acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular glucuronidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UDP-glucuronosyltransferase 2A2
    Names
    UDP glucuronosyltransferase 2 family, polypeptide A2
    NP_001099147.2
    NP_001288162.1

    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_001105677.2 → NP_001099147.2  UDP-glucuronosyltransferase 2A2 isoform UGT2A2_i1 precursor

      See identical proteins and their annotated locations for NP_001099147.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (UGT2A2_i1).
      Source sequence(s)
      AC093829, FJ664272
      Consensus CDS
      CCDS56331.1
      UniProtKB/Swiss-Prot
      P0DTE5
      Related
      ENSP00000475028.2, ENST00000604629.6
      Conserved Domains (1) summary
      pfam00201
      Location:30 → 524
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    2. NM_001301233.1 → NP_001288162.1  UDP-glucuronosyltransferase 2A2 isoform UGT2A2_i2 precursor

      See identical proteins and their annotated locations for NP_001288162.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, also known as UGT2A2deltaexon3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (UGT2A2_i2) that is shorter than isoform UGT2A2_i1.
      Source sequence(s)
      AC093829, FJ664273
      Consensus CDS
      CCDS77924.1
      UniProtKB/Swiss-Prot
      Q9Y4X1
      Related
      ENSP00000474383.2, ENST00000604021.1
      Conserved Domains (2) summary
      PHA03392
      Location:295 → 469
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:30 → 480
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      69588417..69639642 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      72923224..72974440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DTE5.1 GenPept UniProtKB/Swiss-Prot:P0DTE5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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