EDEM2 (ER degradation enhancing alpha-mannosidase like protein 2)

2014-11-01  

Identity

HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
C20orf31,C20orf49,bA4204.1
FUSION GENES

Other Information

Locus ID:

NCBI: 55741
MIM: 610302
HGNC: 15877
Ensembl: ENSG00000088298

Variants:

dbSNP: 55741
ClinVar: 55741
TCGA: ENSG00000088298
COSMIC: EDEM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088298ENST00000374491Q9BV94
ENSG00000088298ENST00000374492Q9BV94

Expression (GTEx)

0
10
20
30
40
50
60

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

References

Pubmed IDYearTitleCitations
155794712005A novel stress-induced EDEM variant regulating endoplasmic reticulum-associated glycoprotein degradation.59
155377902005Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins.57
155377902005Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins.57
250926552014EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step.42
208020252010Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.25
249109922014EDEM2 and OS-9 are required for ER-associated degradation of non-glycosylated sonic hedgehog.8

Citation

Dessen P

EDEM2 (ER degradation enhancing alpha-mannosidase like protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62727/edem2