Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9945
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamine-fructose-6-phosphate transaminase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GFPT2
Synonyms (NCBI Gene) Gene synonyms aliases
GFAT, GFAT 2, GFAT2
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603865 4242 ENSG00000131459
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29760045
Adenocarcinoma of Lung Associate 29760045
Breast Neoplasms Associate 34923141, 37287069
Carcinoma Non Small Cell Lung Stimulate 30885209
Diabetes Complications Associate 20353610
Diabetes Mellitus Type 2 Associate 20353610
Giant Cell Tumor of Tendon Sheath Associate 36007098
Glioblastoma Associate 25356585
Lymphatic Metastasis Associate 37395335
Neoplasms Associate 29760045, 36007098, 37395335