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    UGT2A3 UDP glucuronosyltransferase family 2 member A3 [ Homo sapiens (human) ]

    Gene ID: 79799, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UGT2A3provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase family 2 member A3provided by HGNC
    Primary source
    HGNC:HGNC:28528
    See related
    Ensembl:ENSG00000135220 MIM:616382; AllianceGenome:HGNC:28528
    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
    Summary
    Enables glucuronosyltransferase activity. Involved in cellular glucuronidation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in duodenum (RPKM 93.7), small intestine (RPKM 88.2) and 5 other tissues See more
    Orthologs
    all
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    Genomic context

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    See UGT2A3 in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (68928463..68951804, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (72369135..72392453, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (69794181..69817522, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UDP-glucuronosyltransferase 2B10-like Neighboring gene SPOPL pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:69769570-69770462 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69771354-69772245 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69772246-69773136 Neighboring gene uncharacterized LOC124900853 Neighboring gene UDP-glucuronosyltransferase 2B10-like Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:69795178-69796377 Neighboring gene UDP glucuronosyltransferase family 2 member A1 complex locus pseudogene Neighboring gene SPOPL pseudogene 2

    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. Novel polymorphic human UDP-glucuronosyltransferase 2A3: cloning, functional characterization of enzyme variants, comparative tissue expression, and gene induction. Court MH, et al. Mol Pharmacol, 2008 Sep. PMID 18523138, Free PMC Article
    2. 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
    3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. Zhang X, et al. Carcinogenesis, 2010 Dec. PMID 20819778, Free PMC Article
    4. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results show that UGT2A2 not only shares exons 2-6 with UGT2A1, it also shares with it a similar tissue expression pattern; both UGTs are primarily expressed in nasal epithelium. The 3rd member of UGT2A subfamily, UGT2A3 exhibited a different tissue expression pattern, found mainly in liver and small intestine.
      Title: Human UDP-glucuronosyltransferase UGT2A2: cDNA construction, expression, and functional characterization in comparison with UGT2A1 and UGT2A3.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. This is the first report establishing UGT2A3 as a functional enzyme.
      Title: Novel polymorphic human UDP-glucuronosyltransferase 2A3: cloning, functional characterization of enzyme variants, comparative tissue expression, and gene induction.
    5. Describes initial cloning, expression and functional characterization of UGT2A3. Shows mRNA expression primarily in liver and intestines; and selective glucuronidation of bile acids, particularly hyodeoxycholic acid.
      Title: Novel polymorphic human UDP-glucuronosyltransferase 2A3: cloning, functional characterization of enzyme variants, comparative tissue expression, and gene induction.
    Submit: New GeneRIF Correction

    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)

    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

    Clone Names

    • FLJ21934

    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 cellular glucuronidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular glucuronidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in estrogen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UDP-glucuronosyltransferase 2A3
    Names
    UDP glucuronosyltransferase 2 family, polypeptide A3
    UDPGT 2A3
    NP_079019.3
    XP_011530549.1
    XP_047272133.1
    XP_054184521.1
    XP_054184522.1
    XP_054206815.1
    XP_054206816.1

    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_024743.4 → NP_079019.3  UDP-glucuronosyltransferase 2A3 precursor

      See identical proteins and their annotated locations for NP_079019.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript.
      Source sequence(s)
      AC021146, AK025587, AY542891
      Consensus CDS
      CCDS3525.1
      UniProtKB/Swiss-Prot
      Q6UWM9, Q9H6S4
      Related
      ENSP00000251566.4, ENST00000251566.9
      Conserved Domains (2) summary
      PHA03392
      Location:267 → 492
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:24 → 522
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    RNA

    1. NR_024010.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate exon in the coding region, compared to variant 1, which results in the introduction of an early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC021146, AK025587, AY542891, BP262099

    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
      68928463..68951804 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532247.3 → XP_011530549.1  UDP-glucuronosyltransferase 2A3 isoform X1

      See identical proteins and their annotated locations for XP_011530549.1

      Conserved Domains (2) summary
      PHA03392
      Location:267 → 498
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:24 → 528
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    2. XM_047416177.1 → XP_047272133.1  UDP-glucuronosyltransferase 2A3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167250.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      504482..527823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328546.1 → XP_054184521.1  UDP-glucuronosyltransferase 2A3 isoform X1

    2. XM_054328547.1 → XP_054184522.1  UDP-glucuronosyltransferase 2A3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      72369135..72392453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350840.1 → XP_054206815.1  UDP-glucuronosyltransferase 2A3 isoform X1

    2. XM_054350841.1 → XP_054206816.1  UDP-glucuronosyltransferase 2A3 isoform X2

      UniProtKB/TrEMBL
      B4DDY2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWM9.2 GenPept UniProtKB/Swiss-Prot:Q6UWM9

    Gene LinkOut

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

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