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    UGT2B10 UDP glucuronosyltransferase family 2 member B10 [ Homo sapiens (human) ]

    Gene ID: 7365, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UGT2B10provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase family 2 member B10provided by HGNC
    Primary source
    HGNC:HGNC:12544
    See related
    Ensembl:ENSG00000109181 MIM:600070; AllianceGenome:HGNC:12544
    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
    UDPGT2B10
    Summary
    Predicted to enable UDP-glycosyltransferase activity. Predicted to be involved in cellular glucuronidation and estrogen metabolic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward liver (RPKM 194.6) See more
    Orthologs
    all
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    Genomic context

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    See UGT2B10 in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (68815994..68832023)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (72257030..72273059)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (69681712..69697741)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 2 member A3 pseudogene Neighboring gene UDP glucuronosyltransferase family 2 member B17 pseudogene 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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Glucuronidation of nicotine and cotinine by UGT2B10: loss of function by the UGT2B10 Codon 67 (Asp>Tyr) polymorphism. Chen G, et al. Cancer Res, 2007 Oct 1. PMID 17909004
    2. UGT2B10 genotype influences nicotine glucuronidation, oxidation, and consumption. Berg JZ, et al. Cancer Epidemiol Biomarkers Prev, 2010 Jun. PMID 20501767, Free PMC Article
    3. Expression levels of uridine 5'-diphospho-glucuronosyltransferase genes in breast tissue from healthy women are associated with mammographic density. Haakensen VD, et al. Breast Cancer Res, 2010. PMID 20799965, Free PMC Article
    4. Identification of a prevalent functional missense polymorphism in the UGT2B10 gene and its association with UGT2B10 inactivation against tobacco-specific nitrosamines. Chen G, et al. Pharmacogenet Genomics, 2008 Mar. PMID 18300939
    5. Nicotine N-glucuronidation relative to N-oxidation and C-oxidation and UGT2B10 genotype in five ethnic/racial groups. Murphy SE, et al. Carcinogenesis, 2014 Nov. PMID 25233931, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UGT2B10 Genotype Influences Serum Cotinine Levels and Is a Primary Determinant of Higher Cotinine in African American Smokers.
      Title: UGT2B10 Genotype Influences Serum Cotinine Levels and Is a Primary Determinant of Higher Cotinine in African American Smokers.
    2. a cis-regulatory SNP for human UGT2B10
      Title: rs294775 is a cis-regulatory SNP for human UGT2B10.
    3. The high prevalence of a UGT2B10 splice variant among African Americans results in lower 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL), - N-glucuronidation but only a small decrease in total NNAL glucuronidation. Therefore, despite the significant contribution of UGT2B10 to NNAL- N-glucuronidation, the UGT2B10 genotype does not play a large role in NNAL detoxication.
      Title: Influence of UGT2B10 Genotype on Urinary Excretion of 4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanol- N-glucuronide by African American Smokers.
    4. UGT2B10 was for the first time identified as an N-glucosidation enzyme. Generated N-glucosides were excreted primarily by the BCRP transporter.
      Title: Disposition of Mianserin and Cyclizine in UGT2B10-Overexpressing Human Embryonic Kidney 293 Cells: Identification of UGT2B10 as a Novel N-Glucosidation Enzyme and Breast Cancer Resistance Protein as an N-Glucoside Transporter.
    5. A significant contribution of AS in the regulation of UGT2B10 expression in the liver.
      Title: Post-transcriptional Regulation of UGT2B10 Hepatic Expression and Activity by Alternative Splicing.
    6. UGT2B10 activity or genotype should be considered when using cotinine as a tobacco exposure biomarker, particularly in populations such as African American with high frequencies of UGT2B10 nonfunctional variants.
      Title: Low Cotinine Glucuronidation Results in Higher Serum and Saliva Cotinine in African American Compared to White Smokers.
    7. Spatial features influence the potency of UGT2B10 inhibition.
      Title: Human UDP-Glucuronosyltransferase (UGT) 2B10: Validation of Cotinine as a Selective Probe Substrate, Inhibition by UGT Enzyme-Selective Inhibitors and Antidepressant and Antipsychotic Drugs, and Structural Determinants of Enzyme Inhibition.
    8. UGT2B10 variant allele carriers had increased levels of C-oxidation (P = 0.0099)and all pathways should be considered when characterizing the role of nicotine metabolism on smoking behavior and cancer risk.
      Title: Nicotine N-glucuronidation relative to N-oxidation and C-oxidation and UGT2B10 genotype in five ethnic/racial groups.
    9. CYP2A6 and UGT2B10 genotype explain 53% of the variance in oral nicotine glucuronidation. They are also significantly associated with undeuterated (D0) nicotine glucuronidation in individuals smoking ad libitum.
      Title: The contribution of common UGT2B10 and CYP2A6 alleles to variation in nicotine glucuronidation among European Americans.
    10. the substrate specificity of UGT2B10, highlighting its preference for tertiary amines with higher affinities and clearance values than those of UGT1A4 and UGT1A3.
      Title: Human UDP-glucuronosyltransferase (UGT) 2B10 in drug N-glucuronidation: substrate screening and comparison with UGT1A3 and UGT1A4.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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

    EBI GWAS Catalog

    Description
    The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
    EBI GWAS Catalog

    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

    • MGC142209

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT 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 estrogen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UDP-glucuronosyltransferase 2B10
    Names
    UDP glucuronosyltransferase 2 family, polypeptide B10
    UDPGT 2B10
    NP_001066.1
    NP_001138239.1
    NP_001277020.1
    XP_016864074.1
    XP_054184518.1
    XP_054184519.1
    XP_054206767.1

    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_001075.6 → NP_001066.1  UDP-glucuronosyltransferase 2B10 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001066.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC021146, AK292738, BC113649
      Consensus CDS
      CCDS75136.1
      UniProtKB/Swiss-Prot
      A8K9M3, B4DPP1, P36537, Q14CR8
      UniProtKB/TrEMBL
      Q53GQ9, Q53GU2
      Related
      ENSP00000265403.7, ENST00000265403.12
      Conserved Domains (1) summary
      pfam00201
      Location:23 → 524
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    2. NM_001144767.3 → NP_001138239.1  UDP-glucuronosyltransferase 2B10 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001138239.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC021146, AK298432, BC113649
      Consensus CDS
      CCDS75135.1
      UniProtKB/TrEMBL
      Q53GQ9, Q53GU2
      Related
      ENSP00000413420.2, ENST00000458688.2
      Conserved Domains (3) summary
      PHA03392
      Location:184 → 422
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:23 → 440
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
      cl21454
      Location:39 → 82
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_001290091.2 → NP_001277020.1  UDP-glucuronosyltransferase 2B10 isoform 3

      See identical proteins and their annotated locations for NP_001277020.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC021146, BC113649, CD013994
      Conserved Domains (2) summary
      PHA03392
      Location:20 → 258
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:1 → 276
      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
      68815994..68832023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008585.3 → XP_016864074.1  UDP-glucuronosyltransferase 2B10 isoform X1

      UniProtKB/TrEMBL
      Q53GQ9, Q53GU2

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167250.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      392000..408042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328543.1 → XP_054184518.1  UDP-glucuronosyltransferase 2B10 isoform X1

      UniProtKB/TrEMBL
      Q53GQ9, Q53GU2

    2. XM_054328544.1 → XP_054184519.1  UDP-glucuronosyltransferase 2B10 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      72257030..72273059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350792.1 → XP_054206767.1  UDP-glucuronosyltransferase 2B10 isoform X1

      UniProtKB/TrEMBL
      Q53GQ9, Q53GU2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36537.1 GenPept UniProtKB/Swiss-Prot:P36537

    Gene LinkOut

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

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