GCNT4 (glucosaminyl (N-acetyl) transferase 4)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 51301 |
| Gene name | Glucosaminyl (N-acetyl) transferase 4 |
| Gene symbol | GCNT4 |
| Synonyms (NCBI Gene) |
C2GNT3LINC01336
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| Chromosome | 5 |
| Chromosome location | 5q13.3 |
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miRNA
miRNA information provided by mirtarbase database.
82
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 |
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| Sequence length | 453 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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