FGGY
FGGY Carbohydrate Kinase Domain Containing
Gene Information Card
| Symbol | FGGY |
|---|---|
| Full Name | FGGY carbohydrate kinase domain containing |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 55277 ncbi.nlm.nih.gov/gene/55277 |
| Ensembl ID | ENSG00000143379 |
| UniProt ID | Q9NRG9 |
| OMIM ID | 614316 |
| HGNC ID | 25998 |
| Aliases | bA364O22.1, FGGY-B, FLJ10858 |
Description
The FGGY gene encodes a protein containing a carbohydrate kinase domain, belonging to the FGGY family of kinases. It is involved in carbohydrate metabolism, specifically phosphorylating sugars. The gene is located on chromosome 1q24.2 and is expressed in various tissues. Mutations in FGGY have been associated with metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 2 | Altered carbohydrate metabolism due to FGGY variants may affect insulin sensitivity and glucose homeostasis. | ClinVar, NCBI |
| Obesity | FGGY expression changes in adipose tissue linked to energy metabolism dysregulation. | NCBI, PubMed |
| Colorectal Cancer | Somatic mutations and altered expression of FGGY observed in tumor samples. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose Tissue | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Small Intestine | 9.7 | Medium |
| Pancreas | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 11.4 | Hepatocellular carcinoma cell line |
| HT-29 | 9.8 | Colorectal adenocarcinoma cell line |
| MCF7 | 7.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.0012 | Reduced kinase activity |
| c.782G>A (p.Arg261His) | Missense | 0.0008 | Unknown functional effect |
| c.1234delA | Frameshift | 0.0003 | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in FGGY lead to truncated or absent protein, impairing carbohydrate kinase activity.
Gain of Function (GOF)
No gain-of-function mutations reported in FGGY.
Dominant Negative (DN)
No dominant-negative mutations documented for FGGY.
View complete mutation data：
Gene Ontology (GO)
| • kinase activity (GO:0016301) | • phosphotransferase activity (GO:0016773) |
| • ATP binding (GO:0005524) | • carbohydrate metabolic process (GO:0005975) |
| • cytoplasm (GO:0005737) |
Pathways
• REACT:2162120 - Metabolism of carbohydrates
• REACT:701 - Pentose phosphate pathway (via FGGY-related sugar phosphorylation)
Protein Summary
The FGGY protein (UniProt Q9NRG9) is a 556-amino acid carbohydrate kinase localized to the cytoplasm. It catalyzes the phosphorylation of various sugars, playing a role in cellular energy metabolism. The protein contains a conserved FGGY domain and is expressed in metabolically active tissues such as liver and kidney. Structural studies suggest a two-domain architecture with an ATP-binding site.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGGY Knockout HEK293 Cell Line | EDJ-KQ13477 | Human | 55277 | Details Get a Quote |
| FGGY Knockout A-549 Cell Line | EDJ-KQ43069 | Human | 55277 | Details Get a Quote |
| FGGY Knockout HCT 116 Cell Line | EDJ-KQ43070 | Human | 55277 | Details Get a Quote |
| FGGY Knockout HeLa Cell Line | EDJ-KQ41817 | Human | 55277 | Details Get a Quote |
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