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

2014-11-01  

Identity

HGNC
EDEM2
LOCATION
20q11.22
LOCUSID
55741
ALIAS
C20orf31,C20orf49,bA4204.1
FUSION GENES
Show Gene Fusions

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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
320655822020EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first mannose trimming step in mammalian glycoprotein ERAD.16
325569992020A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion.4
320655822020EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first mannose trimming step in mammalian glycoprotein ERAD.16
325569992020A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion.4
249109922014EDEM2 and OS-9 are required for ER-associated degradation of non-glycosylated sonic hedgehog.18
250926552014EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step.70
249109922014EDEM2 and OS-9 are required for ER-associated degradation of non-glycosylated sonic hedgehog.18
250926552014EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step.70
208020252010Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.36
208020252010Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.36
155377902005Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins.68
155377902005Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins.68
155794712005A novel stress-induced EDEM variant regulating endoplasmic reticulum-associated glycoprotein degradation.67
155377902005Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins.68
155377902005Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins.68

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/meetings/js/favicon/js/lib/all.min.js