Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	4247
Gene name	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Gene symbol	MGAT2
Synonyms (NCBI Gene)	CDG2ACDGS2GLCNACTIIGNT-IIGNT2
Chromosome	14
Chromosome location	14q21.3
Summary	The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable sign

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047885	hsa-miR-30c-5p	CLASH	23622248
MIRT1146871	hsa-miR-188-5p	CLIP-seq
MIRT1146872	hsa-miR-200b	CLIP-seq
MIRT1146873	hsa-miR-200c	CLIP-seq
MIRT1146874	hsa-miR-3065-3p	CLIP-seq
MIRT1146875	hsa-miR-3149	CLIP-seq
MIRT1146876	hsa-miR-320e	CLIP-seq
MIRT1146877	hsa-miR-3647-3p	CLIP-seq
MIRT1146878	hsa-miR-3662	CLIP-seq
MIRT1146879	hsa-miR-3667-3p	CLIP-seq
MIRT1146880	hsa-miR-374c	CLIP-seq
MIRT1146881	hsa-miR-429	CLIP-seq
MIRT1146882	hsa-miR-4477a	CLIP-seq
MIRT1146883	hsa-miR-4700-3p	CLIP-seq
MIRT1146884	hsa-miR-4724-5p	CLIP-seq
MIRT1146885	hsa-miR-570	CLIP-seq
MIRT1146886	hsa-miR-595	CLIP-seq
MIRT1146887	hsa-miR-607	CLIP-seq
MIRT1146888	hsa-miR-629	CLIP-seq
MIRT1146889	hsa-miR-655	CLIP-seq
MIRT1146890	hsa-miR-943	CLIP-seq
MIRT1146891	hsa-miR-944	CLIP-seq
MIRT1146872	hsa-miR-200b	CLIP-seq
MIRT1146873	hsa-miR-200c	CLIP-seq
MIRT2041824	hsa-miR-2052	CLIP-seq
MIRT2041825	hsa-miR-3671	CLIP-seq
MIRT1146880	hsa-miR-374c	CLIP-seq
MIRT2041826	hsa-miR-375	CLIP-seq
MIRT1146881	hsa-miR-429	CLIP-seq
MIRT2041827	hsa-miR-4464	CLIP-seq
MIRT2041828	hsa-miR-4705	CLIP-seq
MIRT2041829	hsa-miR-4718	CLIP-seq
MIRT2041830	hsa-miR-4738-3p	CLIP-seq
MIRT2041831	hsa-miR-4748	CLIP-seq
MIRT2041832	hsa-miR-488	CLIP-seq
MIRT1146886	hsa-miR-595	CLIP-seq
MIRT1146888	hsa-miR-629	CLIP-seq
MIRT1146889	hsa-miR-655	CLIP-seq
MIRT2041833	hsa-miR-885-5p	CLIP-seq
MIRT2271375	hsa-miR-1323	CLIP-seq
MIRT1146874	hsa-miR-3065-3p	CLIP-seq
MIRT2271376	hsa-miR-3148	CLIP-seq
MIRT2271377	hsa-miR-335	CLIP-seq
MIRT1146878	hsa-miR-3662	CLIP-seq
MIRT2271378	hsa-miR-371b-5p	CLIP-seq
MIRT2271379	hsa-miR-4693-3p	CLIP-seq
MIRT2041830	hsa-miR-4738-3p	CLIP-seq
MIRT2271380	hsa-miR-4768-5p	CLIP-seq
MIRT2271381	hsa-miR-496	CLIP-seq
MIRT2271382	hsa-miR-548o	CLIP-seq
MIRT2271383	hsa-miR-592	CLIP-seq
MIRT1146886	hsa-miR-595	CLIP-seq
MIRT2271384	hsa-miR-597	CLIP-seq
MIRT2271385	hsa-miR-603	CLIP-seq
MIRT2271386	hsa-miR-888	CLIP-seq
MIRT2271387	hsa-miR-942	CLIP-seq
MIRT1146872	hsa-miR-200b	CLIP-seq
MIRT1146873	hsa-miR-200c	CLIP-seq
MIRT1146880	hsa-miR-374c	CLIP-seq
MIRT2041826	hsa-miR-375	CLIP-seq
MIRT2570557	hsa-miR-425	CLIP-seq
MIRT1146881	hsa-miR-429	CLIP-seq
MIRT2570558	hsa-miR-4328	CLIP-seq
MIRT2570559	hsa-miR-4645-3p	CLIP-seq
MIRT2041830	hsa-miR-4738-3p	CLIP-seq
MIRT2570560	hsa-miR-4803	CLIP-seq
MIRT2570561	hsa-miR-495	CLIP-seq
MIRT2570562	hsa-miR-513a-3p	CLIP-seq
MIRT2570563	hsa-miR-609	CLIP-seq
MIRT1146888	hsa-miR-629	CLIP-seq
MIRT1146889	hsa-miR-655	CLIP-seq
MIRT2041833	hsa-miR-885-5p	CLIP-seq
MIRT1146872	hsa-miR-200b	CLIP-seq
MIRT1146873	hsa-miR-200c	CLIP-seq
MIRT1146880	hsa-miR-374c	CLIP-seq
MIRT2041826	hsa-miR-375	CLIP-seq
MIRT2570557	hsa-miR-425	CLIP-seq
MIRT1146881	hsa-miR-429	CLIP-seq
MIRT2570558	hsa-miR-4328	CLIP-seq
MIRT2570559	hsa-miR-4645-3p	CLIP-seq
MIRT2041830	hsa-miR-4738-3p	CLIP-seq
MIRT2570560	hsa-miR-4803	CLIP-seq
MIRT2570561	hsa-miR-495	CLIP-seq
MIRT2570563	hsa-miR-609	CLIP-seq
MIRT1146888	hsa-miR-629	CLIP-seq
MIRT1146889	hsa-miR-655	CLIP-seq
MIRT2041833	hsa-miR-885-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	20378551
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IBA
GO:0008455	Function	Alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	IBA
GO:0008455	Function	Alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	IDA	7635144, 29666272
GO:0008455	Function	Alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	IEA
GO:0008455	Function	Alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	IMP	8808595
GO:0008455	Function	Alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	TAS
GO:0009312	Process	Oligosaccharide biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IDA	7635144, 29666272
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	8808595
GO:0019082	Process	Viral protein processing	TAS
GO:0030145	Function	Manganese ion binding	IDA	29666272
GO:0042803	Function	Protein homodimerization activity	IDA	20378551
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
602616	7045	ENSG00000168282

Q10469

Protein name

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (EC 2.4.1.143) (Beta-1,2-N-acetylglucosaminyltransferase II) (GlcNAc-T II) (GNT-II) (Mannoside acetylglucosaminyltransferase 2) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosa

Protein function

Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in comp

PDB

5VCM , 5VCR , 5VCS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05060	MGAT2	92 → 440	N-acetylglucosaminyltransferase II (MGAT2)	Family

Sequence

MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDAEPARGAGGRGGDHPSV
AVGIRRVSNVSAASLVPAVPQPEADNLTLRYRSLVYQLNFDQTLRNVDKAGTWAPRELVL
VVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEINQLIAGVNFCPVLQVFFPFS
IQLYPNEFPGSDPRDCPRDLPKNAALKLGCINAEYPDSFGHYREAKFSQTKHHWWWKLHF
VWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQQECPECDVLSLGTYSASRSF
YGMADKVDVKTWKSTEHNMGLALTRNAYQKLIECTDTFCTYDDYNWDWTLQYLTVSCLPK
FWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLNNNKQYMFPETLTISEKFTVV
AISPPRKNGGWGDIRDHELCKSYRRLQ

Sequence length

447

Interactions

View interactions

KEGG Pathway	Reactome Pathway
N-Glycan biosynthesis	Defective MGAT2 causes MGAT2-CDG (CDG-2a)
Various types of N-glycan biosynthesis	Reactions specific to the complex N-glycan synthesis pathway
Metabolic pathways

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic	rs730882218	RCV000162128	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal glycosylation	Likely pathogenic	rs730882218	RCV000162128	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs730882218	RCV000162128	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MGAT2-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs104894447, rs104894448, rs104894449, rs1882879689, rs2502745152, rs730882218, rs1566504935, rs1310787426, rs1566505013	RCV000007406 RCV000007407 RCV000007408 RCV003984967 RCV003990102 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MGAT2-related disorder	Likely pathogenic	rs2502745152	RCV004731583	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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.
Congenital disorder of glycosylation	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA	—	HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
STT3B	1	["Congenital disorder of glycosylation"]	2	["N-Glycan biosynthesis","Various types of N-glycan biosynthesis"]	5	["ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","CTD (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]
STT3A	1	["Congenital disorder of glycosylation"]	2	["N-Glycan biosynthesis","Various types of N-glycan biosynthesis"]	5	["ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","CTD (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]
FUT8	1	["Congenital disorder of glycosylation"]	3	["N-Glycan biosynthesis","Various types of N-glycan biosynthesis","Reactions specific to the complex N-glycan synthesis pathway"]	4	["ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]
DDOST	1	["Congenital disorder of glycosylation"]	2	["N-Glycan biosynthesis","Various types of N-glycan biosynthesis"]	5	["ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","CTD (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]
DPM1	1	["Congenital disorder of glycosylation"]	1	["N-Glycan biosynthesis"]	5	["ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","CTD (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]

MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase)

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