Gene Gene information from NCBI Gene database.
Entrez ID 9945
Gene name Glutamine-fructose-6-phosphate transaminase 2
Gene symbol GFPT2
Synonyms (NCBI Gene)
GFATGFAT 2GFAT2
Chromosome 5
Chromosome location 5q35.3
miRNA miRNA information provided by mirtarbase database.
196
miRTarBase ID miRNA Experiments Reference
MIRT021918 hsa-miR-128-3p Sequencing 20371350
MIRT022362 hsa-miR-124-3p Microarray 18668037
MIRT023459 hsa-miR-30b-5p Sequencing 20371350
MIRT027274 hsa-miR-101-3p Sequencing 20371350
MIRT028277 hsa-miR-32-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity IBA
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity IDA 35229715
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity IEA
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity TAS 10198162
GO:0005515 Function Protein binding IPI 21044950, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603865 4242 ENSG00000131459
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94808
Protein name Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (EC 2.6.1.16) (D-fructose-6-phosphate amidotransferase 2) (Glutamine:fructose-6-phosphate amidotransferase 2) (GFAT 2) (GFAT2) (Hexosephosphate aminotransferase 2)
Protein function Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13522 GATase_6 68 212 Domain
PF01380 SIS 363 492 SIS domain Domain
PF01380 SIS 534 665 SIS domain Domain
Tissue specificity TISSUE SPECIFICITY: Highest levels of expression in heart, placenta, and spinal cord.
Sequence
MCGIFAYMNYRVPRTRKEIFETLIKGLQRLEYRGYDSAGVAIDGNNHEVKERHIQLVKKR
GKVKALDEELYKQDSMDLKVEFETHFGIAHTRWATHGVPSAVNSHPQRSDKGNEFVVIHN
GIITNYKDLRKFLESKGYEFESETDTETIAKLIKYVFDNRETEDITFSTLVERVIQQLEG
AFALVFKSVHYPGEAVATRRGSPLLIGVRSKY
KLSTEQIPILYRTCTLENVKNICKTRMK
RLDSSACLHAVGDKAVEFFFASDASAIIEHTNRVIFLEDDDIAAVADGKLSIHRVKRSAS
DDPSRAIQTLQMELQQIMKGNFSAFMQKEIFEQPESVFNTMRGRVNFETNTVLLGGLKDH
LKEIRRCRRLIVIGCGTSYHAAVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFF
ISQSGETADTLLALRYCKDRGALTVGVTNTVGSSISRETDCGVHINAGPEIGVASTKAYT
SQFISLVMFGLM
MSEDRISLQNRRQEIIRGLRSLPELIKEVLSLEEKIHDLALELYTQRS
LLVMGRGYNYATCLEGALKIKEITYMHSEGILAGELKHGPLALIDKQMPVIMVIMKDPCF
AKCQNALQQVTARQGRPIILCSKDDTESSKFAYKTIELPHTVDCLQGILSVIPLQLLSFH
LAVLR
GYDVDFPRNLAKSVTVE
Sequence length 682
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GFPT2-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 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
Asthenozoospermia Asthenozoospermia BEFREE 30849544
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34923141, 37287069 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31685298
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 20353610
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Insufficiency Renal Insufficiency BEFREE 20353610
★☆☆☆☆
Found in Text Mining only
Diabetes Complications Diabetes complications Pubtator 20353610 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 20353610 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 14764791, 17574229
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy Diabetic Nephropathy BEFREE 14764791
★☆☆☆☆
Found in Text Mining only
Giant Cell Tumor of Tendon Sheath Giant cell tumor of tendon sheath Pubtator 36007098 Associate
★☆☆☆☆
Found in Text Mining only