UGGT2 (UDP-glucose glycoprotein glucosyltransferase 2)

2014-08-01  

Identity

HGNC
UGGT2
LOCATION
13q32.1
LOCUSID
55757
ALIAS
HUGT2,UGCGL2,UGT2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55757
MIM: 605898
HGNC: 15664
Ensembl: ENSG00000102595

Variants:

dbSNP: 55757
ClinVar: 55757
TCGA: ENSG00000102595
COSMIC: UGGT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102595ENST00000376712A6NP03
ENSG00000102595ENST00000376714Q9NYU1
ENSG00000102595ENST00000376747Q9NYU1
ENSG00000102595ENST00000397618E7EMU6
ENSG00000102595ENST00000621375Q9NYU1
ENSG00000102595ENST00000638479A0A1W2PQ18

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042
ER Quality Control Compartment (ERQC)REACTOMER-HSA-901032

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
333200952020Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2.23
333200952020Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2.23
274967662016Effects of domain composition on catalytic activity of human UDP-glucose:glycoprotein glucosyltransferases.7
274967662016Effects of domain composition on catalytic activity of human UDP-glucose:glycoprotein glucosyltransferases.7
244155562014Both isoforms of human UDP-glucose:glycoprotein glucosyltransferase are enzymatically active.22
244155562014Both isoforms of human UDP-glucose:glycoprotein glucosyltransferase are enzymatically active.22
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
129130042003The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain.22
129130042003The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain.22

Citation

Dessen P

UGGT2 (UDP-glucose glycoprotein glucosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54749/js/humanGenome