Gene Gene information from NCBI Gene database.
Entrez ID 4248
Gene name Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase
Gene symbol MGAT3
Synonyms (NCBI Gene)
GNT-IIIGNT3
Chromosome 22
Chromosome location 22q13.1
Summary There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of
miRNA miRNA information provided by mirtarbase database.
182
miRTarBase ID miRNA Experiments Reference
MIRT018035 hsa-miR-335-5p Microarray 18185580
MIRT755360 hsa-miR-199a-5p Luciferase reporter assayRNA pull down assay 38521909
MIRT1146892 hsa-miR-127-3p CLIP-seq
MIRT1146893 hsa-miR-1973 CLIP-seq
MIRT1146894 hsa-miR-2467-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0003830 Function Beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity IEA
GO:0003830 Function Beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity IMP 19403558
GO:0003830 Function Beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604621 7046 ENSG00000128268
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q09327
Protein name Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase (EC 2.4.1.144) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III) (GNT-III) (GlcNAc-T III) (N-acetylglucosaminyltransferase III)
Protein function It is involved in the regulation of the biosynthesis and biological function of glycoprotein oligosaccharides. Catalyzes the addition of N-acetylglucosamine in beta 1-4 linkage to the beta-linked mannose of the trimannosyl core of N-linked sugar
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04724 Glyco_transf_17 186 358 Glycosyltransferase family 17 Family
Sequence
MKMRRYKLFLMFCMAGLCLISFLHFFKTLSYVTFPRELASLSPNLVSSFFWNNAPVTPQA
SPEPGGPDLLRTPLYSHSPLLQPLPPSKAAEELHRVDLVLPEDTTEYFVRTKAGGVCFKP
GTKMLERPPPGRPEEKPEGANGSSARRPPRYLLSARERTGGRGARRKWVECVCLPGWHGP
SCGVPTVVQYSNLPTKERLVPREVPRRVINAINVNHEFDLLDVRFHELGDVVDAFVVCES
NFTAYGEPRPLKFREMLTNGTFEYIRHKVLYVFLDHFPPGGRQDGWIADDYLRTFLTQDG
VSRLRNLRPDDVFIIDDADEIPARDGVLFLKLYDGWTEPFAFHMRKSLYGFFWKQPGT
LE
VVSGCTVDMLQAVYGLDGIRLRRRQYYTMPNFRQYENRTGHILVQWSLGSPLHFAGWHCS
WCFTPEGIYFKLVSAQNGDFPRWGDYEDKRDLNYIRGLIRTGGWFDGTQQEYPPADPSEH
MYAPKYLLKNYDRFHYLLDNPYQEPRSTAAGGWRHRGPEGRPPARGKLDEAEV
Sequence length 533
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Metabolic pathways
  Reactions specific to the hybrid N-glycan synthesis pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
AA amyloidosis Associate 38458367
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 17652175, 38458367
★☆☆☆☆
Found in Text Mining only
Apraxia Ideomotor Associate 30231941
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 27429195
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Associate 30689164
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Stimulate 26801611
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 28245423
★☆☆☆☆
Found in Text Mining only
Carcinoma Intraductal Noninfiltrating Associate 30689164
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Stimulate 38458367
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Associate 29991969, 38001042
★☆☆☆☆
Found in Text Mining only