Gene Gene information from NCBI Gene database.
Entrez ID 5208
Gene name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
Gene symbol PFKFB2
Synonyms (NCBI Gene)
PFK-2/FBPase-2
Chromosome 1
Chromosome location 1q32.1
Summary The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the s
miRNA miRNA information provided by mirtarbase database.
468
miRTarBase ID miRNA Experiments Reference
MIRT023270 hsa-miR-122-5p Microarray 17612493
MIRT030745 hsa-miR-21-5p Microarray 18591254
MIRT047308 hsa-miR-181a-5p CLASH 23622248
MIRT456507 hsa-miR-552-3p PAR-CLIP 23592263
MIRT456506 hsa-miR-1296-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0003873 Function 6-phosphofructo-2-kinase activity IBA
GO:0003873 Function 6-phosphofructo-2-kinase activity IDA 11069105
GO:0003873 Function 6-phosphofructo-2-kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
171835 8873 ENSG00000123836
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60825
Protein name 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 (6PF-2-K/Fru-2,6-P2ase 2) (PFK/FBPase 2) (6PF-2-K/Fru-2,6-P2ase heart-type isozyme) [Includes: 6-phosphofructo-2-kinase (EC 2.7.1.105); Fructose-2,6-bisphosphatase (EC 3.1.3.46)]
Protein function Synthesis and degradation of fructose 2,6-bisphosphate.
PDB 5HTK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01591 6PF2K 26 249 6-phosphofructo-2-kinase Domain
PF00300 His_Phos_1 252 438 Histidine phosphatase superfamily (branch 1) Domain
Tissue specificity TISSUE SPECIFICITY: Heart.
Sequence
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fructose and mannose metabolism
Metabolic pathways
AMPK signaling pathway
Thyroid hormone signaling pathway
  Regulation of glycolysis by fructose 2,6-bisphosphate metabolism
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acute Kidney Injury Associate 31914881
★☆☆☆☆
Found in Text Mining only
Astrocytoma Associate 31170943
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 35184643
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 24568531
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 25662186
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Associate 25662186
★☆☆☆☆
Found in Text Mining only
Ganglioglioma Associate 31170943
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 38098117
★☆☆☆☆
Found in Text Mining only
Glioma of Brain Familial Associate 37864733
★☆☆☆☆
Found in Text Mining only
Intervertebral Disc Degeneration Associate 33676464
★☆☆☆☆
Found in Text Mining only