Gene Gene information from NCBI Gene database.
Entrez ID 146664
Gene name Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
Gene symbol MGAT5B
Synonyms (NCBI Gene)
GnT-IXGnT-VB
Chromosome 17
Chromosome location 17q25.2
Summary The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]
miRNA miRNA information provided by mirtarbase database.
262
miRTarBase ID miRNA Experiments Reference
MIRT716472 hsa-miR-6849-3p HITS-CLIP 19536157
MIRT709057 hsa-miR-6887-3p HITS-CLIP 19536157
MIRT709054 hsa-miR-4749-3p HITS-CLIP 19536157
MIRT709053 hsa-miR-874-5p HITS-CLIP 19536157
MIRT716471 hsa-miR-6512-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 23088713
GO:0005794 Component Golgi apparatus IBA
GO:0005794 Component Golgi apparatus IEA
GO:0006486 Process Protein glycosylation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612441 24140 ENSG00000167889
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3V5L5
Protein name Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B (EC 2.4.1.-) (EC 2.4.1.155) (Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B) (GlcNAc-T Vb) (GNT-Vb) (hGnTVb) (Mannoside acetylglucosaminyltransferase 5B) (N-acetylglucosam
Protein function Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15024 Glyco_transf_18 184 777 Glycosyltransferase family 18 Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain. Expressed in all areas of the adult and fetal brain. Also expressed at much lower levels in testis, spleen and thymus. {ECO:0000269|PubMed:12941944, ECO:0000269|PubMed:14623122}.
Sequence
Sequence length 792
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  N-Glycan biosynthesis
Mannose type O-glycan biosynthesis
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EMPHYSEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM 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
Brain Neoplasms Brain Neoplasms BEFREE 26794090
★☆☆☆☆
Found in Text Mining only
Carcinoma Transitional Cell Transitional cell carcinoma Pubtator 31805718 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 10673297 Associate
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 25630622
★☆☆☆☆
Found in Text Mining only
Ductal Breast Carcinoma Breast Carcinoma BEFREE 24966944
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 17255279 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 25232831
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of brain Brain Neoplasms BEFREE 26794090
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 23107376, 25630622
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 16406367
★☆☆☆☆
Found in Text Mining only