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

Gene ID: 79799, updated on 5-Mar-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 integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
4q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (68928463..68951804, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (72369135..72392453, complement)
105.20220307 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
  • 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)

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

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_2023_10

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

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