MOGS (mannosyl-oligosaccharide glucosidase)

Gene

• Entrez ID: 7841
• Gene name: Mannosyl-oligosaccharide glucosidase
• Gene symbol: MOGS
• Synonyms: CDG2B, CWH41, DER7, GCS1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004573	Function	Mannosyl-oligosaccharide glucosidase activity	IBA	21873635
GO:0004573	Function	Mannosyl-oligosaccharide glucosidase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006457	Process	Protein folding	TAS
GO:0006487	Process	Protein N-linked glycosylation	IBA	21873635
GO:0009311	Process	Oligosaccharide metabolic process	IEA
GO:0015926	Function	Glucosidase activity	TAS	7635146
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708

Other IDs

• MIM: 601336
• HGNC: 24862
• e!Ensembl: ENSG00000115275

Protein

• UniProt ID: 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

Pathways

KEGG:

N-Glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum

Reactome:

Defective MOGS causes MOGS-CDG (CDG-2b)
N-glycan trimming in the ER and Calnexin/Calreticulin cycle

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Congenital disorder of glycosylation	Congenital Disorders of Glycosylation, Congenital Disorder Of Glycosylation, Type IIB, Congenital disorder of glycosylation type 1q, MOGS-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	10788335, 4716661, 27604308, 24716661, 26805780
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease name	Disease term	dbSNP ID	References
Blepharophimosis	Blepharophimosis
Cerebral atrophy	Cerebral atrophy
High palate	Byzanthine arch palate
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum