GFPT2: Glutamine-Fructose-6-Phosphate Transaminase 2
Key regulator of hexosamine biosynthesis pathway, implicated in metabolic disorders and cancer
Gene Information Card
| Symbol | GFPT2 |
|---|---|
| Full Name | Glutamine-Fructose-6-Phosphate Transaminase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 9945 ncbi.nlm.nih.gov/gene/9945 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | O94808 |
| OMIM ID | 603860 |
| HGNC ID | 4242 |
| Aliases | GFAT2, GFAT2_HUMAN, GFAT2, GFAT2_HUMAN |
Description
GFPT2 (glutamine-fructose-6-phosphate transaminase 2) encodes the rate-limiting enzyme of the hexosamine biosynthesis pathway (HBP), catalyzing the conversion of fructose-6-phosphate and glutamine to glucosamine-6-phosphate and glutamate. This enzyme is a key sensor of cellular nutrient and energy status, regulating protein glycosylation and signaling. GFPT2 is highly expressed in placenta, heart, and skeletal muscle, and its dysregulation is linked to insulin resistance, diabetic complications, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus type 2 | GFPT2 overexpression increases flux through HBP, leading to insulin resistance via O-GlcNAc modification of insulin signaling proteins. | PMID: 11549637, 12482947 |
| Diabetic nephropathy | Elevated GFPT2 activity promotes mesangial cell hypertrophy and extracellular matrix accumulation through increased O-GlcNAcylation. | PMID: 15561971 |
| Cancer (multiple types) | GFPT2 upregulation supports cancer cell proliferation and survival by enhancing hexosamine biosynthesis for glycosylation of oncoproteins and growth factor receptors. | PMID: 29784789, 31239444 |
| Ovarian cancer | GFPT2 overexpression correlates with poor prognosis and chemoresistance via altered glycosylation and metabolic reprogramming. | PMID: 31239444 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 27.3 | High |
| Heart | 18.5 | Medium |
| Skeletal muscle | 15.2 | Medium |
| Kidney | 12.1 | Medium |
| Liver | 8.4 | Low |
| Brain | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line |
| HepG2 | 18.7 | Hepatocellular carcinoma |
| A549 | 15.3 | Lung adenocarcinoma |
| MCF7 | 12.8 | Breast cancer |
| K562 | 9.4 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1495G>A (p.Gly499Ser) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.2021C>T (p.Thr674Met) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
| c.1123A>G (p.Asn375Asp) | Missense | <0.01% | Observed in cancer samples; effect unclear |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in GFPT2; rare missense variants may reduce enzyme activity but require functional validation.
Gain of Function (GOF)
No confirmed gain-of-function mutations; overexpression is more commonly associated with disease.
Dominant Negative (DN)
No dominant-negative mutations described for GFPT2.
View complete mutation data：
Gene Ontology (GO)
| • glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360) | • UDP-N-acetylglucosamine biosynthetic process (GO:0006044) |
| • ATP binding (GO:0005524) | • cytosol (GO:0005829) |
| • carbohydrate biosynthetic process (GO:0016051) | • carbohydrate metabolic process (GO:0005975) |
Pathways
• Hexosamine Biosynthesis Pathway (HBP)
• Metabolic reprogramming in cancer
• O-GlcNAc modification of proteins
• Insulin signaling pathway
Protein Summary
GFPT2 is a 682-amino acid protein (UniProt O94808) that functions as a homodimer. It catalyzes the first and rate-limiting step of the hexosamine biosynthesis pathway, converting fructose-6-phosphate and glutamine into glucosamine-6-phosphate and glutamate. The enzyme is allosterically inhibited by UDP-GlcNAc, the end product of the pathway. GFPT2 is highly expressed in placenta, heart, and skeletal muscle, and its activity is regulated by phosphorylation and cellular nutrient levels. Dysregulation of GFPT2 contributes to insulin resistance, diabetic complications, and cancer progression through altered protein glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GFPT2 Knockout HEK293 Cell Line | EDJ-KQ6193 | Human | 9945 | Details Get a Quote |
| GFPT2 Knockout A-549 Cell Line | EDJ-KQ31388 | Human | 9945 | Details Get a Quote |
| GFPT2 Knockout HCT 116 Cell Line | EDJ-KQ31390 | Human | 9945 | Details Get a Quote |
| GFPT2 Knockout HeLa Cell Line | EDJ-KQ31391 | Human | 9945 | Details Get a Quote |
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