DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory)

2014-11-01  

Identity

HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
CDG1U
FUSION GENES

Other Information

Locus ID:

NCBI: 8818
MIM: 603564
HGNC: 3006
Ensembl: ENSG00000136908

Variants:

dbSNP: 8818
ClinVar: 8818
TCGA: ENSG00000136908
COSMIC: DPM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136908ENST00000314392O94777
ENSG00000136908ENST00000373110Q5T9C7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
N-Glycan biosynthesisKEGGhsa00510
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Synthesis of dolichyl-phosphate mannoseREACTOMER-HSA-162699
Synthesis of glycosylphosphatidylinositol (GPI)REACTOMER-HSA-162710
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
231091492012DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.41
293109652018Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.3

Citation

Dessen P

DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62612/dpm2-(dolichyl-phosphate-mannosyltransferase-subunit-2-regulatory)