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

Gene ID: 55757, updated on 3-Nov-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
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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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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

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