UGGT2 (UDP-glucose glycoprotein glucosyltransferase 2)

2014-08-01  

Identity

HGNC
LOCATION
13q32.1
LOCUSID
ALIAS
HUGT2,UGCGL2,UGT2
FUSION GENES

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
129130042003The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain.19
244155562014Both isoforms of human UDP-glucose:glycoprotein glucosyltransferase are enzymatically active.13
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
274967662016Effects of domain composition on catalytic activity of human UDP-glucose:glycoprotein glucosyltransferases.5
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3

Citation

Dessen P

UGGT2 (UDP-glucose glycoprotein glucosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54749/uggt2