Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7841
Gene name	Mannosyl-oligosaccharide glucosidase
Gene symbol	MOGS
Synonyms (NCBI Gene)	CDG2BCWH41DER7GCS1
Chromosome	2
Chromosome location	2p13.1
Summary	This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the e

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909291	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121909292	A>G	Pathogenic	Coding sequence variant, missense variant
rs202094225	A>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371747622	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs587777323	G>A	Pathogenic	Stop gained, coding sequence variant
rs753961807	G>C,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs757997140	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs764778419	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs777654978	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225089	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1057520537	G>A	Pathogenic	Coding sequence variant, stop gained
rs1399649784	->G	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (89)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022588	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT043996	hsa-miR-378a-5p	CLASH	23622248
MIRT042520	hsa-miR-423-3p	CLASH	23622248
MIRT039951	hsa-miR-615-3p	CLASH	23622248
MIRT037160	hsa-miR-877-3p	CLASH	23622248
MIRT1155153	hsa-miR-1273f	CLIP-seq
MIRT1155154	hsa-miR-143	CLIP-seq
MIRT1155155	hsa-miR-181a	CLIP-seq
MIRT1155156	hsa-miR-181b	CLIP-seq
MIRT1155157	hsa-miR-181c	CLIP-seq
MIRT1155158	hsa-miR-181d	CLIP-seq
MIRT1155159	hsa-miR-1915	CLIP-seq
MIRT1155160	hsa-miR-203	CLIP-seq
MIRT1155161	hsa-miR-2277-3p	CLIP-seq
MIRT1155162	hsa-miR-23a	CLIP-seq
MIRT1155163	hsa-miR-23b	CLIP-seq
MIRT1155164	hsa-miR-23c	CLIP-seq
MIRT1155165	hsa-miR-299-3p	CLIP-seq
MIRT1155166	hsa-miR-3120-3p	CLIP-seq
MIRT1155167	hsa-miR-3121-3p	CLIP-seq
MIRT1155168	hsa-miR-3622a-3p	CLIP-seq
MIRT1155169	hsa-miR-3622b-3p	CLIP-seq
MIRT1155170	hsa-miR-3915	CLIP-seq
MIRT1155171	hsa-miR-3928	CLIP-seq
MIRT1155172	hsa-miR-4262	CLIP-seq
MIRT1155173	hsa-miR-4320	CLIP-seq
MIRT1155174	hsa-miR-4324	CLIP-seq
MIRT1155175	hsa-miR-4428	CLIP-seq
MIRT1155176	hsa-miR-4452	CLIP-seq
MIRT1155177	hsa-miR-4464	CLIP-seq
MIRT1155178	hsa-miR-4476	CLIP-seq
MIRT1155179	hsa-miR-4491	CLIP-seq
MIRT1155180	hsa-miR-4522	CLIP-seq
MIRT1155181	hsa-miR-4648	CLIP-seq
MIRT1155182	hsa-miR-4654	CLIP-seq
MIRT1155183	hsa-miR-4657	CLIP-seq
MIRT1155184	hsa-miR-4685-5p	CLIP-seq
MIRT1155185	hsa-miR-4708-5p	CLIP-seq
MIRT1155186	hsa-miR-4748	CLIP-seq
MIRT1155187	hsa-miR-4769-5p	CLIP-seq
MIRT1155188	hsa-miR-4770	CLIP-seq
MIRT1155189	hsa-miR-4782-5p	CLIP-seq
MIRT1155153	hsa-miR-1273f	CLIP-seq
MIRT1155154	hsa-miR-143	CLIP-seq
MIRT1155160	hsa-miR-203	CLIP-seq
MIRT1155161	hsa-miR-2277-3p	CLIP-seq
MIRT1155166	hsa-miR-3120-3p	CLIP-seq
MIRT1155168	hsa-miR-3622a-3p	CLIP-seq
MIRT1155169	hsa-miR-3622b-3p	CLIP-seq
MIRT1155170	hsa-miR-3915	CLIP-seq
MIRT1155171	hsa-miR-3928	CLIP-seq
MIRT1155174	hsa-miR-4324	CLIP-seq
MIRT1155175	hsa-miR-4428	CLIP-seq
MIRT1155176	hsa-miR-4452	CLIP-seq
MIRT1155177	hsa-miR-4464	CLIP-seq
MIRT1155178	hsa-miR-4476	CLIP-seq
MIRT1155185	hsa-miR-4708-5p	CLIP-seq
MIRT1155186	hsa-miR-4748	CLIP-seq
MIRT1155188	hsa-miR-4770	CLIP-seq
MIRT2044393	hsa-miR-4774-5p	CLIP-seq
MIRT1155153	hsa-miR-1273f	CLIP-seq
MIRT1155154	hsa-miR-143	CLIP-seq
MIRT1155155	hsa-miR-181a	CLIP-seq
MIRT1155156	hsa-miR-181b	CLIP-seq
MIRT1155157	hsa-miR-181c	CLIP-seq
MIRT1155158	hsa-miR-181d	CLIP-seq
MIRT1155159	hsa-miR-1915	CLIP-seq
MIRT1155161	hsa-miR-2277-3p	CLIP-seq
MIRT1155162	hsa-miR-23a	CLIP-seq
MIRT1155163	hsa-miR-23b	CLIP-seq
MIRT1155164	hsa-miR-23c	CLIP-seq
MIRT1155165	hsa-miR-299-3p	CLIP-seq
MIRT1155166	hsa-miR-3120-3p	CLIP-seq
MIRT1155168	hsa-miR-3622a-3p	CLIP-seq
MIRT1155169	hsa-miR-3622b-3p	CLIP-seq
MIRT1155172	hsa-miR-4262	CLIP-seq
MIRT1155173	hsa-miR-4320	CLIP-seq
MIRT1155174	hsa-miR-4324	CLIP-seq
MIRT1155175	hsa-miR-4428	CLIP-seq
MIRT1155179	hsa-miR-4491	CLIP-seq
MIRT1155180	hsa-miR-4522	CLIP-seq
MIRT1155181	hsa-miR-4648	CLIP-seq
MIRT1155182	hsa-miR-4654	CLIP-seq
MIRT1155183	hsa-miR-4657	CLIP-seq
MIRT1155184	hsa-miR-4685-5p	CLIP-seq
MIRT1155185	hsa-miR-4708-5p	CLIP-seq
MIRT1155187	hsa-miR-4769-5p	CLIP-seq
MIRT1155188	hsa-miR-4770	CLIP-seq
MIRT1155189	hsa-miR-4782-5p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004573	Function	Glc3Man9GlcNAc2 oligosaccharide glucosidase activity	IBA
GO:0004573	Function	Glc3Man9GlcNAc2 oligosaccharide glucosidase activity	IEA
GO:0004573	Function	Glc3Man9GlcNAc2 oligosaccharide glucosidase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	7635146
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006457	Process	Protein folding	TAS
GO:0006487	Process	Protein N-linked glycosylation	IBA
GO:0006487	Process	Protein N-linked glycosylation	TAS	7635146
GO:0009311	Process	Oligosaccharide metabolic process	IEA
GO:0015926	Function	Glucosidase activity	IEA
GO:0015926	Function	Glucosidase activity	TAS	7635146
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7635146
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019082	Process	Viral protein processing	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708

MIM	HGNC	e!Ensembl
601336	24862	ENSG00000115275

Q13724

Protein name

Mannosyl-oligosaccharide glucosidase (EC 3.2.1.106) (Processing A-glucosidase I)

Protein function

In the context of N-glycan degradation, cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16923	Glyco_hydro_63N	93 → 262	Glycosyl hydrolase family 63 N-terminal domain	Domain
PF03200	Glyco_hydro_63	352 → 835	Glycosyl hydrolase family 63 C-terminal domain	Domain

Sequence

MARGERRRRAVPAEGVRTAERAARGGPGRRDGRGGGPRSTAGGVALAVVVLSLALGMSGR
WVLAWYRARRAVTLHSAPPVLPADSSSPAVAPDLFWGTYRPHVYFGMKTRSPKPLLTGLM
WAQQGTTPGTPKLRHTCEQGDGVGPYGWEFHDGLSFGRQHIQDGALRLTTEFVKRPGGQH
GGDWSWRVTVEPQDSGTSALPLVSLFFYVVTDGKEVLLPEVGAKGQLKFISGHTSELGDF
RFTLLPPTSPGDTAPKYGSYNVFWTSNPGLPLLTEMVKSRLNSWFQHRPPGAPPERYLGL
PGSLKWEDRGPSGQGQGQFLIQQVTLKIPISIEFVFESGSAQAGGNQALPRLAGSLLTQA
LESHAEGFRERFEKTFQLKEKGLSSGEQVLGQAALSGLLGGIGYFYGQGLVLPDIGVEGS
EQKVDPALFPPVPLFTAVPSRSFFPRGFLWDEGFHQLVVQRWDPSLTREALGHWLGLLNA
DGWIGREQILGDEARARVPPEFLVQRAVHANPPTLLLPVAHMLEVGDPDDLAFLRKALPR
LHAWFSWLHQSQAGPLPLSYRWRGRDPALPTLLNPKTLPSGLDDYPRASHPSVTERHLDL
RCWVALGARVLTRLAEHLGEAEVAAELGPLAASLEAAESLDELHWAPELGVFADFGNHTK
AVQLKPRPPQGLVRVVGRPQPQLQYVDALGYVSLFPLLLRLLDPTSSRLGPLLDILADSR
HLWSPFGLRSLAASSSFYGQRNSEHDPPYWRGAVWLNVNYLALGALHHYGHLEGPHQARA
AKLHGELRANVVGNVWRQYQATGFLWEQYSDRDGRGMGCRPFHGWTSLVLLAMAEDY

Sequence length

837

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Metabolic pathways Protein processing in endoplasmic reticulum		Defective MOGS causes MOGS-CDG (CDG-2b) N-glycan trimming in the ER and Calnexin/Calreticulin cycle

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MOGS-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs746601093, rs765427546, rs886349456, rs587777323, rs781577192, rs1199925815, rs781260708, rs747109742, rs2529503989, rs1671936359, rs2529496158, rs863225089, rs2529496405, rs121909291, rs121909292 View all (12 more)	RCV001342806 RCV001384032 RCV001784668 RCV000114956 RCV001932736 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MOGS-related disorder	Likely pathogenic; Pathogenic	rs765427546	RCV004753301	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Colon adenocarcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (54)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16979235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35766008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	2227936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33261925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11911273, 8982050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	33859323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	10788335, 33261925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	3472644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1q	Congenital Disorder Of Glycosylation	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type IIB	Congenital disorder of glycosylation	Pubtator	10788335	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type IIB	Congenital disorder of glycosylation	Pubtator	10788335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	24716661, 33261925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation, Type IIB	Congenital disorder of glycosylation	UNIPROT_DG	10788335		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type IIB	Congenital disorder of glycosylation	BEFREE	12145188, 24716661, 30587846		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type IIB	Congenital disorder of glycosylation	CLINVAR_DG	24716661		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type IIB	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	24716661, 26805780, 27604308, 4716661		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type IIB	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type In	Congenital disorder of glycosylation	BEFREE	26805780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	12145188, 15383536, 26805780, 29235540, 30389790, 30587846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	26805780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	3282234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33261925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	10788335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33261925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21910216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	24716661, 25318123, 26805780, 30389790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	7497449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	8836140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	10788335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	12575020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	25318123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	17114967, 8536243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15036888, 17114967, 8355514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	8536243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33261925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11911273, 8982050		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	9209464		★★★★★ ★☆☆☆☆ Found in Text Mining only
MOGS-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10547195, 10958934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29465311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	1933824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16979235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	8982050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	10788335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	19375526		★★★★★ ★☆☆☆☆ Found in Text Mining only

MOGS (mannosyl-oligosaccharide glucosidase)