GCNT4
Glucosaminyl (N-Acetyl) Transferase 4, Core 2
Gene Information Card
| Symbol | GCNT4 |
|---|---|
| Full Name | Glucosaminyl (N-Acetyl) Transferase 4, Core 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.3 |
| NCBI Gene ID | 51301 ncbi.nlm.nih.gov/gene/51301 |
| Ensembl ID | ENSG00000145675 |
| UniProt ID | Q9H0B6 |
| OMIM ID | 605897 |
| HGNC ID | 15676 |
| Aliases | C2GNT4, C2GnT-M, C2GnT2 |
Description
GCNT4 (Glucosaminyl (N-Acetyl) Transferase 4, Core 2) encodes a member of the beta-1,6-N-acetylglucosaminyltransferase family. This enzyme catalyzes the transfer of N-acetylglucosamine to the core 1 O-glycan structure, forming core 2 branched O-glycans. Core 2 O-glycans are critical for mucin biosynthesis and cell surface glycoprotein function. GCNT4 is predominantly expressed in the stomach, colon, and other mucosal tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered core 2 O-glycan expression may influence tumor cell adhesion and metastasis. | PMID: 10652318 |
| Gastric Cancer | Aberrant GCNT4 expression is associated with changes in mucin glycosylation patterns. | PMID: 11751629 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 12.5 | Medium |
| Colon | 8.2 | Medium |
| Small Intestine | 6.7 | Low |
| Pancreas | 3.1 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN45 (gastric) | 15.3 | High expression |
| HT-29 (colorectal) | 10.1 | Moderate expression |
| HepG2 (liver) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown functional effect |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acetylglucosaminyltransferase activity (GO:0008376) | • protein glycosylation (GO:0006486) |
| • O-glycan processing (GO:0016266) | • Golgi apparatus (GO:0005794) |
Pathways
• REACT:21369 - O-linked glycosylation of mucins
• KEGG:00512 - Mucin type O-glycan biosynthesis
Protein Summary
GCNT4 is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It catalyzes the formation of core 2 O-glycans by adding N-acetylglucosamine to core 1 structures. This enzyme is essential for the biosynthesis of mucin-type O-glycans in gastrointestinal tissues. Its activity influences cell-cell interactions, mucosal barrier function, and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GCNT4 Knockout HEK293 Cell Line | EDJ-KQ11026 | Human | 51301 | Details Get a Quote |
| GCNT4 Knockout HeLa Cell Line | EDJ-KQ56278 | Human | 51301 | Details Get a Quote |
| GCNT4 Knockout A-549 Cell Line | EDJ-KQ64766 | Human | 51301 | Details Get a Quote |
| GCNT4 Knockout HCT 116 Cell Line | EDJ-KQ73214 | Human | 51301 | Details Get a Quote |
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