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
331296892021Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.7
331296892021Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.7
332556552020Yil102c-A is a Functional Homologue of the DPMII Subunit of Dolichyl Phosphate Mannose Synthase in Saccharomyces cerevisiae.1
332556552020Yil102c-A is a Functional Homologue of the DPMII Subunit of Dolichyl Phosphate Mannose Synthase in Saccharomyces cerevisiae.1
293109652018Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.10
293109652018Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.10
231091492012DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.53
231091492012DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.53

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)