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    UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 55757, updated on 28-Oct-2024

    Summary

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    Official Symbol
    UGGT2provided by HGNC
    Official Full Name
    UDP-glucose glycoprotein glucosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:15664
    See related
    Ensembl:ENSG00000102595 MIM:605898; AllianceGenome:HGNC:15664
    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
    UGT2; HUGT2; UGCGL2
    Summary
    UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.5), testis (RPKM 4.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UGGT2 in Genome Data Viewer
    Location:
    13q32.1
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (95801580..96053401, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (95006150..95257608, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (96453834..96705655, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5448 Neighboring gene Sharpr-MPRA regulatory region 4273 Neighboring gene MT-ND6 pseudogene 18 Neighboring gene MT-CYB pseudogene 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C3 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:96558977-96559478 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:96606253-96607155 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:96611347-96611848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:96611849-96612348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:96666836-96667336 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:96693792-96694381 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:96705417-96705916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:96741684-96742184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:96742185-96742685 Neighboring gene heparan sulfate 6-O-sulfotransferase 3 Neighboring gene RNA, 7SL, cytoplasmic 164, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:96947250-96948184 Neighboring gene microRNA 4501

    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. Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2. Adams BM, et al. Elife, 2020 Dec 15. PMID 33320095, Free PMC Article
    2. Effects of domain composition on catalytic activity of human UDP-glucose:glycoprotein glucosyltransferases. Takeda Y, et al. Glycobiology, 2016 Sep. PMID 27496766
    3. Both isoforms of human UDP-glucose:glycoprotein glucosyltransferase are enzymatically active. Takeda Y, et al. Glycobiology, 2014 Apr. PMID 24415556
    4. The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain. Arnold SM, et al. J Biol Chem, 2003 Oct 31. PMID 12913004
    5. Two homologues encoding human UDP-glucose:glycoprotein glucosyltransferase differ in mRNA expression and enzymatic activity. Arnold SM, et al. Biochemistry, 2000 Mar 7. PMID 10694380

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2.
      Title: Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2.
    2. In this study, we aimed to clarify the contribution of the noncatalytic domains by comparing activities of truncated forms of recombinant HUGT1/HUGT2 and HUGT1/HUGT2 chimeras with full-length enzymes.
      Title: Effects of domain composition on catalytic activity of human UDP-glucose:glycoprotein glucosyltransferases.
    3. The glucosyltransferase activity of UGGT2 has been lacking, leaving it unclear as to whether it has any function in the glycoprotein folding process.
      Title: Both isoforms of human UDP-glucose:glycoprotein glucosyltransferase are enzymatically active.
    4. 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.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    6. HUGT2 cannot activate the catalytic domain of UDP-glucose: glycoprotein glucosyltransferase I
      Title: The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10873, FLJ11485, MGC87276, MGC117360, MGC150689

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glucose:glycoprotein glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-glucose:glycoprotein glucosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables UDP-glucose:glycoprotein glucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP-glucosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum mannose trimming TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein N-linked glycosylation via asparagine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum quality control compartment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UDP-glucose:glycoprotein glucosyltransferase 2
    Names
    UDP-Glc:glycoprotein glucosyltransferase 2
    UDP-glucose ceramide glucosyltransferase-like 1
    UDP-glucose ceramide glucosyltransferase-like 2

    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_020121.4 → NP_064506.3  UDP-glucose:glycoprotein glucosyltransferase 2 precursor

      See identical proteins and their annotated locations for NP_064506.3

      Status: VALIDATED

      Source sequence(s)
      AF227906, AL162500, BC017759, BC032302
      Consensus CDS
      CCDS9480.1
      UniProtKB/Swiss-Prot
      A6NKL4, Q08AD0, Q5JQR8, Q8N5K0, Q9NYU1, Q9UFC4
      Related
      ENSP00000365938.3, ENST00000376747.8
      Conserved Domains (2) summary
      cd06432
      Location:1231 → 1478
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:33 → 1189
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      95801580..96053401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430471.1 → XP_047286427.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X6

    2. XM_011521097.2 → XP_011519399.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X4

      Conserved Domains (2) summary
      cd06432
      Location:1258 → 1505
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:33 → 1216
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    3. XM_017020662.2 → XP_016876151.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X5

    4. XM_011521096.2 → XP_011519398.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X3

      Conserved Domains (2) summary
      cd06432
      Location:1214 → 1461
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:33 → 1172
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    5. XM_011521095.2 → XP_011519397.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X2

      Conserved Domains (2) summary
      cd06432
      Location:1231 → 1478
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:33 → 1189
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    6. XM_011521094.2 → XP_011519396.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X1

      Conserved Domains (2) summary
      cd06432
      Location:1258 → 1505
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:33 → 1216
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    7. XM_047430473.1 → XP_047286429.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X8

    8. XM_047430472.1 → XP_047286428.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X7

    9. XM_047430474.1 → XP_047286430.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X10

    10. XM_011521099.3 → XP_011519401.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X9

      Conserved Domains (2) summary
      cd06432
      Location:904 → 1151
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:1 → 862
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    11. XM_047430475.1 → XP_047286431.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X13

    12. XM_011521102.3 → XP_011519404.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X12

      Conserved Domains (2) summary
      cd06432
      Location:699 → 946
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:1 → 657
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    13. XM_011521103.3 → XP_011519405.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X14

      Conserved Domains (2) summary
      cd06432
      Location:586 → 833
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:1 → 544
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    14. XM_011521100.3 → XP_011519402.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X11

      UniProtKB/TrEMBL
      Q9NV86
      Conserved Domains (1) summary
      pfam06427
      Location:33 → 1013
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    RNA

    1. XR_931617.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      95006150..95257608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374735.1 → XP_054230710.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X6

    2. XM_054374733.1 → XP_054230708.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X4

    3. XM_054374734.1 → XP_054230709.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X5

    4. XM_054374732.1 → XP_054230707.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X3

    5. XM_054374731.1 → XP_054230706.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X2

    6. XM_054374730.1 → XP_054230705.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X1

    7. XM_054374737.1 → XP_054230712.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X8

    8. XM_054374736.1 → XP_054230711.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X7

    9. XM_054374739.1 → XP_054230714.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X10

    10. XM_054374738.1 → XP_054230713.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X9

    11. XM_054374742.1 → XP_054230717.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X13

    12. XM_054374741.1 → XP_054230716.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X12

    13. XM_054374743.1 → XP_054230718.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X14

    14. XM_054374740.1 → XP_054230715.1  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X11

    RNA

    1. XR_008488774.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYU1.4 GenPept UniProtKB/Swiss-Prot:Q9NYU1

    Gene LinkOut

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