Gene Gene information from NCBI Gene database.
Entrez ID 51301
Gene name Glucosaminyl (N-acetyl) transferase 4
Gene symbol GCNT4
Synonyms (NCBI Gene)
C2GNT3LINC01336
Chromosome 5
Chromosome location 5q13.3
miRNA miRNA information provided by mirtarbase database.
82
miRTarBase ID miRNA Experiments Reference
MIRT018642 hsa-miR-335-5p Microarray 18185580
MIRT668209 hsa-miR-383-3p HITS-CLIP 23824327
MIRT668208 hsa-miR-6894-5p HITS-CLIP 23824327
MIRT668207 hsa-miR-7106-5p HITS-CLIP 23824327
MIRT668206 hsa-miR-149-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001780 Process Neutrophil homeostasis IEA
GO:0002121 Process Inter-male aggressive behavior IEA
GO:0003829 Function Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616782 17973 ENSG00000176928
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P109
Protein name Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 (EC 2.4.1.102) (Core 2-branching enzyme 3) (Core2-GlcNAc-transferase 3) (C2GnT3)
Protein function Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O-glycan or I-branching enzyme activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02485 Branch 133 402 Core-2/I-Branching enzyme Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in thymus. Weakly expressed in pancreas, peripheral blood leukocytes, placenta, small intestine and stomach. Barely detectable in liver, spleen, lung and lymph node. {ECO:0000269|PubMed:10753916}.
Sequence
MKIFKCYFKHTLQQKVFILFLTLWLLSLLKLLNVRRLFPQKDIYLVEYSLSTSPFVRNRY
THVKDEVRYEVNCSGIYEQEPLEIGKSLEIRRRDIIDLEDDDVVAMTSDCDIYQTLRGYA
QKLVSKEEKSFPIAYSLVVHKDAIMVERLIHAIYNQHNIYCIHYDRKAPDTFKVAMNNLA
KCFSNIFIASKLEAVEYAHISRLQADLNCLSDLLKSSIQWKYVINLCGQDFPLKSNFELV
SELKKLNGANMLETVKPPNSKLERFTYHHELRRVPYEYVKLPIRTNISKEAPPHNIQIFV
GSAYFVLSQAFVKYIFNNSIVQDFFAWSKDTYSPDEHFWATLIRVPGIPGEISRSAQDVS
DLQSKTRLVKWNYYEGFFYPSCTGSHLRSVCIYGAAELRWLI
KDGHWFANKFDSKVDPIL
IKCLAEKLEEQQRDWITLPSEKLFMDRNLTTTS
Sequence length 453
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Mucin type O-glycan biosynthesis
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Cerebral Infarction Ischemic stroke Pubtator 31436916 Associate
★☆☆☆☆
Found in Text Mining only
Stroke Stroke Pubtator 31436916 Associate
★☆☆☆☆
Found in Text Mining only