MOGS (mannosyl-oligosaccharide glucosidase)

2014-11-01  

Identity

HGNC
LOCATION
2p13.1
LOCUSID
ALIAS
CDG2B,CWH41,DER7,GCS1
FUSION GENES

Other Information

Locus ID:

NCBI: 7841
MIM: 601336
HGNC: 24862
Ensembl: ENSG00000115275

Variants:

dbSNP: 7841
ClinVar: 7841
TCGA: ENSG00000115275
COSMIC: MOGS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115275ENST00000409065B8ZZE2
ENSG00000115275ENST00000414701C9JDQ1
ENSG00000115275ENST00000448666Q13724
ENSG00000115275ENST00000448666A0A384MDR6
ENSG00000115275ENST00000452063Q13724
ENSG00000115275ENST00000462443A0A3B3IRW2
ENSG00000115275ENST00000647723A0A3B3ITU6
ENSG00000115275ENST00000647753B4E3B8
ENSG00000115275ENST00000647771A0A3B3IRI1
ENSG00000115275ENST00000647915A0A3B3IU81
ENSG00000115275ENST00000648810A0A3B3IRW2
ENSG00000115275ENST00000649075A0A3B3ITC1
ENSG00000115275ENST00000649601A0A3B3IRI7
ENSG00000115275ENST00000649854A0A3B3IRK6
ENSG00000115275ENST00000650523A0A3B3IS52

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
N-glycan precursor trimmingKEGGhsa_M00073
N-glycan precursor trimmingKEGGM00073
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
332619252021Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.3
332619252021Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.3
305878462019Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.5
305878462019Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.5
247166612014Glycosylation, hypogammaglobulinemia, and resistance to viral infections.59
247166612014Glycosylation, hypogammaglobulinemia, and resistance to viral infections.59
126264092003(Arg)3 within the N-terminal domain of glucosidase I contains ER targeting information but is not required absolutely for ER localization.8
126264092003(Arg)3 within the N-terminal domain of glucosidase I contains ER targeting information but is not required absolutely for ER localization.8
119428562002Perturbation of free oligosaccharide trafficking in endoplasmic reticulum glucosidase I-deficient and castanospermine-treated cells.10
124902812002Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation.8
119428562002Perturbation of free oligosaccharide trafficking in endoplasmic reticulum glucosidase I-deficient and castanospermine-treated cells.10
124902812002Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation.8

Citation

Dessen P

MOGS (mannosyl-oligosaccharide glucosidase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70367/js/css/template-card.css