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Aliases for UGGT2 Gene

Aliases for UGGT2 Gene

  • UDP-Glucose Glycoprotein Glucosyltransferase 2 2 3 5
  • UDP-Glucose Ceramide Glucosyltransferase-Like 1 3 4
  • UDP-Glucose Ceramide Glucosyltransferase-Like 2 2 3
  • UDP-Glucose:Glycoprotein Glucosyltransferase 2 2 3
  • UGCGL2 3 4
  • HUGT2 3 4
  • UGT2 3 4
  • UDP--Glc:Glycoprotein Glucosyltransferase 2 4
  • UDP-Glc:Glycoprotein Glucosyltransferase 2 3
  • EC 2.4.1.- 4
  • EC 2.4.1 56

External Ids for UGGT2 Gene

Previous HGNC Symbols for UGGT2 Gene

  • UGCGL2

Previous GeneCards Identifiers for UGGT2 Gene

  • GC13M095252
  • GC13M096453
  • GC13M077051

Summaries for UGGT2 Gene

Entrez Gene Summary for UGGT2 Gene

  • 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]

GeneCards Summary for UGGT2 Gene

UGGT2 (UDP-Glucose Glycoprotein Glucosyltransferase 2) is a Protein Coding gene. Diseases associated with UGGT2 include Basal Cell Nevus Syndrome. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and UDP-glucose:glycoprotein glucosyltransferase activity. An important paralog of this gene is UGGT1.

UniProtKB/Swiss-Prot for UGGT2 Gene

  • Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation (By similarity).

Additional gene information for UGGT2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGGT2 Gene

Genomics for UGGT2 Gene

GeneHancer (GH) Regulatory Elements for UGGT2 Gene

Promoters and enhancers for UGGT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I096052 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 570.6 +0.2 182 1.8 HDGF ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF207 SP3 UGGT2 GC13P096022
GH13I095675 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.4 +376.5 376512 3.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 DNAJC3 DNAJC3-AS1 DZIP1 UGGT2
GH13I095642 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 11.4 +409.4 409377 2.3 PKNOX1 ARID4B SIN3A ZNF76 ZNF48 ZEB1 ZNF335 GLIS2 ZNF366 EGR2 DZIP1 UGGT2 DNAJC3-AS1 CLDN10 GC13M095581
GH13I095924 Enhancer 0.7 Ensembl ENCODE 24.2 +128.9 128920 0.6 JUND ZNF362 MAX CEBPB FOS MYC UGGT2 GC13M095889 GC13P096022
GH13I096089 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 9.1 -37.0 -37023 1.4 SIN3A ZNF2 ZNF335 GLIS2 SCRT2 EGR2 SP3 ZBTB11 REST GLIS1 HS6ST3 UGGT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UGGT2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for UGGT2 Gene

Genomic Locations for UGGT2 Gene
chr13:95,801,580-96,053,482
(GRCh38/hg38)
Size:
251,903 bases
Orientation:
Minus strand
chr13:96,453,834-96,705,736
(GRCh37/hg19)

Genomic View for UGGT2 Gene

Genes around UGGT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGGT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGGT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGGT2 Gene

Proteins for UGGT2 Gene

  • Protein details for UGGT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYU1-UGGG2_HUMAN
    Recommended name:
    UDP-glucose:glycoprotein glucosyltransferase 2
    Protein Accession:
    Q9NYU1
    Secondary Accessions:
    • A6NKL4
    • Q08AD0
    • Q5JQR8
    • Q8N5K0
    • Q9UFC4

    Protein attributes for UGGT2 Gene

    Size:
    1516 amino acids
    Molecular mass:
    174735 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with METTL23.

    Alternative splice isoforms for UGGT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGGT2 Gene

Selected DME Specific Peptides for UGGT2 Gene

Q9NYU1:
  • AKTIDLC
  • YKILFLDVLFPL
  • LKNYLSPTFKE
  • YHISALYVVDL
  • NLDQDLPN
  • LQDLSFQ
  • EVQGFLFGKL
  • NIFSVASGHLYERFLRIMMLSVL
  • VDADQIVR
  • VDTIVMA
  • AEYELEYLLLEG
  • LDGAPYGYTPFCDSRREMDGYRFWK
  • WLWCETWC
  • QPPRGLQFTLGT
  • NTKTPVKFW

Post-translational modifications for UGGT2 Gene

  • Glycosylation at isoforms=2256, isoforms=286, posLast=920920, and isoforms=950
  • Modification sites at PhosphoSitePlus

Domains & Families for UGGT2 Gene

Gene Families for UGGT2 Gene

Suggested Antigen Peptide Sequences for UGGT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYU1

UniProtKB/Swiss-Prot:

UGGG2_HUMAN :
  • Belongs to the glycosyltransferase 8 family.
Family:
  • Belongs to the glycosyltransferase 8 family.
genes like me logo Genes that share domains with UGGT2: view

Function for UGGT2 Gene

Molecular function for UGGT2 Gene

UniProtKB/Swiss-Prot Function:
Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation (By similarity).

Enzyme Numbers (IUBMB) for UGGT2 Gene

Gene Ontology (GO) - Molecular Function for UGGT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003980 UDP-glucose:glycoprotein glucosyltransferase activity TAS --
GO:0005515 protein binding IPI 23349634
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0051082 unfolded protein binding IBA --
genes like me logo Genes that share ontologies with UGGT2: view
genes like me logo Genes that share phenotypes with UGGT2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UGGT2 Gene

Localization for UGGT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGGT2 Gene

Endoplasmic reticulum lumen. Endoplasmic reticulum-Golgi intermediate compartment.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UGGT2 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 2
plasma membrane 1
mitochondrion 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for UGGT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0043234 protein complex IDA 23349634
GO:0044322 endoplasmic reticulum quality control compartment IEA --
genes like me logo Genes that share ontologies with UGGT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGGT2 Gene

Pathways & Interactions for UGGT2 Gene

genes like me logo Genes that share pathways with UGGT2: view

UniProtKB/Swiss-Prot Q9NYU1-UGGG2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for UGGT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0018279 protein N-linked glycosylation via asparagine IBA --
GO:0030968 endoplasmic reticulum unfolded protein response IBA --
GO:0051084 de novo posttranslational protein folding IBA --
GO:0071712 ER-associated misfolded protein catabolic process IBA --
genes like me logo Genes that share ontologies with UGGT2: view

No data available for SIGNOR curated interactions for UGGT2 Gene

Drugs & Compounds for UGGT2 Gene

(5) Drugs for UGGT2 Gene - From: PharmGKB, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor 425
calcium Approved Nutra 0
Manganese Approved Nutra 37
Caspofungin Acetate Pharma 0
Micafungin sodium Pharma Inhibitor of β-(1,3)-D-glucan synthesis;fungicide 0

(1) Additional Compounds for UGGT2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for UGGT2 Gene

Compound Action Cas Number
Caspofungin Acetate 179463-17-3
Micafungin sodium Inhibitor of β-(1,3)-D-glucan synthesis;fungicide 208538-73-2
genes like me logo Genes that share compounds with UGGT2: view

Drug Products

Transcripts for UGGT2 Gene

Unigene Clusters for UGGT2 Gene

UDP-glucose glycoprotein glucosyltransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGGT2 Gene

No ASD Table

Relevant External Links for UGGT2 Gene

GeneLoc Exon Structure for
UGGT2
ECgene alternative splicing isoforms for
UGGT2

Expression for UGGT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UGGT2 Gene

Protein differential expression in normal tissues from HIPED for UGGT2 Gene

This gene is overexpressed in Testis (16.2), Fetal gut (12.0), Fetal ovary (10.5), and Heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UGGT2 Gene



Protein tissue co-expression partners for UGGT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of UGGT2 Gene:

UGGT2

SOURCE GeneReport for Unigene cluster for UGGT2 Gene:

Hs.193226

mRNA Expression by UniProt/SwissProt for UGGT2 Gene:

Q9NYU1-UGGG2_HUMAN
Tissue specificity: Higher levels in kidney, pancreas, heart, and skeletal muscle.

Evidence on tissue expression from TISSUES for UGGT2 Gene

  • Nervous system(4.4)
  • Liver(3.1)
  • Blood(2.5)
genes like me logo Genes that share expression patterns with UGGT2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGGT2 Gene

Orthologs for UGGT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UGGT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UGGT2 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia UGGT2 33 34
  • 89.07 (n)
cow
(Bos Taurus)
Mammalia UGGT2 33 34
  • 88.16 (n)
mouse
(Mus musculus)
Mammalia Uggt2 33 16 34
  • 83.27 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563520 33
  • 80.31 (n)
oppossum
(Monodelphis domestica)
Mammalia UGGT2 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves UGGT2 33 34
  • 73.63 (n)
lizard
(Anolis carolinensis)
Reptilia UGGT2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uggt2 33
  • 68.51 (n)
zebrafish
(Danio rerio)
Actinopterygii uggt2 33 34
  • 63.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ugt 34
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea uggt-1 34
  • 41 (a)
ManyToMany
uggt-2 34
  • 36 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KRE5 34
  • 19 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.6797 33
barley
(Hordeum vulgare)
Liliopsida Hv.11850 33
corn
(Zea mays)
Liliopsida Zm.14120 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6415 34
  • 45 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8102 33
Species where no ortholog for UGGT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UGGT2 Gene

ENSEMBL:
Gene Tree for UGGT2 (if available)
TreeFam:
Gene Tree for UGGT2 (if available)

Paralogs for UGGT2 Gene

Paralogs for UGGT2 Gene

(2) SIMAP similar genes for UGGT2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with UGGT2: view

Variants for UGGT2 Gene

Sequence variations from dbSNP and Humsavar for UGGT2 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000000375 -- 95,882,454(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000003110 -- 95,975,060(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000017560 -- 95,886,066(-) T/G intron_variant
rs1000020529 -- 95,951,206(-) G/A intron_variant
rs1000026315 -- 96,009,781(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UGGT2 Gene

Variant ID Type Subtype PubMed ID
dgv1016n106 CNV deletion 24896259
esv1008849 CNV deletion 20482838
esv1766220 CNV deletion 17803354
esv1995077 CNV deletion 18987734
esv2477513 CNV deletion 19546169
esv2508393 CNV deletion 19546169
esv2747850 CNV deletion 23290073
esv2761 CNV loss 18987735
esv3305465 CNV mobile element insertion 20981092
esv3405679 CNV insertion 20981092
esv3443482 CNV insertion 20981092
esv3550927 CNV deletion 23714750
esv3892431 CNV loss 25118596
esv7574 CNV loss 19470904
nsv1040320 CNV gain 25217958
nsv1041165 CNV loss 25217958
nsv1070606 CNV deletion 25765185
nsv1135 CNV insertion 18451855
nsv1151668 CNV deletion 26484159
nsv519575 CNV loss 19592680
nsv527566 CNV loss 19592680
nsv64173 CNV deletion 16902084
nsv7246 OTHER inversion 18451855
nsv832690 CNV gain+loss 17160897
nsv832691 CNV loss 17160897
nsv958131 CNV deletion 24416366
nsv983616 CNV duplication 23825009

Variation tolerance for UGGT2 Gene

Residual Variation Intolerance Score: 87.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.76; 96.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGGT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGGT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGGT2 Gene

Disorders for UGGT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UGGT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
basal cell nevus syndrome
  • bcns
- elite association - COSMIC cancer census association via MalaCards
Search UGGT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UGGT2

genes like me logo Genes that share disorders with UGGT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGGT2 Gene

Publications for UGGT2 Gene

  1. Two homologues encoding human UDP-glucose:glycoprotein glucosyltransferase differ in mRNA expression and enzymatic activity. (PMID: 10694380) Arnold SM … Kaufman RJ (Biochemistry 2000) 2 3 4 22 58
  2. The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain. (PMID: 12913004) Arnold SM … Kaufman RJ (The Journal of biological chemistry 2003) 3 4 22 58
  3. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P … Coulombe B (PLoS genetics 2013) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for UGGT2 Gene

Sources for UGGT2 Gene

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