Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2650
Gene name Gene Name - the full gene name approved by the HGNC.
Glucosaminyl (N-acetyl) transferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GCNT1
Synonyms (NCBI Gene) Gene synonyms aliases
C2GNT, C2GNT-L, C2GNT1, C2GlcNAcT, G6NT, NACGT2, NAGCT2
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021750 hsa-miR-132-3p Microarray 17612493
MIRT025075 hsa-miR-181a-5p Microarray 17612493
MIRT625787 hsa-miR-586 HITS-CLIP 23824327
MIRT625786 hsa-miR-877-3p HITS-CLIP 23824327
MIRT625785 hsa-miR-1234-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0003829 Function Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IBA
GO:0003829 Function Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IDA 1329093
GO:0003829 Function Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600391 4203 ENSG00000187210
Protein
UniProt ID Q02742
Protein name Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.102) (Core 2 beta-1,6-N-acetylglucosaminyltransferase) (C2GlcNAcT) (Core 2-branching enzyme) (Core2-GlcNAc-transferase) (C2GNT) (Core 2 GNT) (Leukocyte type cor
Protein function Glycosyltransferase that catalyzes the transfer of an N-acetylglucosamine (GlcNAc) moiety in beta1-6 linkage from UDP-GlcNAc onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan (PubMed:1329093, PubMed:23027862). The c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02485 Branch 123 392 Core-2/I-Branching enzyme Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in activated T-lymphocytes and myeloid cells.
Sequence
Sequence length 428
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mucin type O-glycan biosynthesis
Metabolic pathways
  O-linked glycosylation of mucins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Mucoepidermoid Associate 37031283
Colonic Neoplasms Associate 19267921, 21283832
Fetal Diseases Associate 36585686
Hemochromatosis Associate 16778138
Neoplasm Metastasis Associate 37813880
Neoplasms Associate 11118434, 22446589, 37813880
Pancreatic Neoplasms Associate 17553459
Prostatic Neoplasms Associate 23165940, 25086069
Prostatic Neoplasms Stimulate 24854630, 37813880
Prostatitis Associate 25086069, 27428423