Gene Gene information from NCBI Gene database.
Entrez ID 4249
Gene name Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase
Gene symbol MGAT5
Synonyms (NCBI Gene)
GNT-VGNT-VAMGAT5AglcNAc-T V
Chromosome 2
Chromosome location 2q21.2-q21.3
Summary The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It i
miRNA miRNA information provided by mirtarbase database.
977
miRTarBase ID miRNA Experiments Reference
MIRT047339 hsa-miR-181a-5p CLASH 23622248
MIRT039157 hsa-miR-769-5p CLASH 23622248
MIRT037984 hsa-miR-502-3p CLASH 23622248
MIRT712416 hsa-miR-4695-5p HITS-CLIP 19536157
MIRT712415 hsa-miR-4459 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ETS1 Unknown 10438459
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane ISS
GO:0000139 Component Golgi membrane TAS
GO:0004864 Function Protein phosphatase inhibitor activity IDA 24846175
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601774 7049 ENSG00000152127
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q09328
Protein name Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A (EC 2.4.1.155) (Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase V) (GlcNAc-T V) (GNT-V) (Mannoside acetylglucosaminyltransferase 5) (N-acetylglucosaminyl-transferase V) [Clea
Protein function Catalyzes the addition of N-acetylglucosamine (GlcNAc) in beta 1-6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides (PubMed:10395745, PubMed:30140003). Catalyzes an important step in the biosynthesis of branched, comp
PDB 5ZIB , 5ZIC , 6YJQ , 6YJR , 6YJS , 6YJT , 6YJU , 6YJV , 7YYI , 7Z07 , 7Z08 , 7Z0B , 8CE3 , 9F5H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15027 DUF4525 3 138 Domain of unknown function (DUF4525) Family
PF15024 Glyco_transf_18 172 726 Glycosyltransferase family 18 Family
Sequence
Sequence length 741
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Metabolic pathways
  N-Glycan antennae elongation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 25274627
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 32352685 Associate
★☆☆☆☆
Found in Text Mining only
Bile duct carcinoma Bile duct carcinoma BEFREE 8900148
★☆☆☆☆
Found in Text Mining only
Bile Duct Neoplasms Bile duct neoplasms Pubtator 8900148 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm LHGDN 16638859
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17537730, 25274627, 30949412
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 17537730, 18271524, 38254997 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 17537730
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 15044007 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia GWASCAT_DG 31407831
★★☆☆☆
Found in Text Mining + Unknown/Other Associations