Gene Gene information from NCBI Gene database.
Entrez ID 5209
Gene name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
Gene symbol PFKFB3
Synonyms (NCBI Gene)
IPFK2PFK2iPFK-2
Chromosome 10
Chromosome location 10p15.1
Summary The protein encoded by this gene belongs to a family of bifunctional proteins that are 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-p
miRNA miRNA information provided by mirtarbase database.
371
miRTarBase ID miRNA Experiments Reference
MIRT028775 hsa-miR-26b-5p Microarray 19088304
MIRT043840 hsa-miR-330-3p CLASH 23622248
MIRT527976 hsa-miR-6865-3p PAR-CLIP 22012620
MIRT527975 hsa-miR-6840-5p PAR-CLIP 22012620
MIRT527974 hsa-miR-6892-3p PAR-CLIP 22012620
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HIF1A Unknown 16025159
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 10077634, 17499765
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
605319 8874 ENSG00000170525
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16875
Protein name 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 (6PF-2-K/Fru-2,6-P2ase 3) (PFK/FBPase 3) (6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme) (Renal carcinoma antigen NY-REN-56) (iPFK-2) [Includes: 6-phosphofructo-2-kinase (EC 2.7.1.105); Fructose-2
Protein function Catalyzes both the synthesis and degradation of fructose 2,6-bisphosphate.
PDB 2AXN , 2DWO , 2DWP , 2I1V , 3QPU , 3QPV , 3QPW , 4D4J , 4D4K , 4D4L , 4D4M , 4MA4 , 5AJV , 5AJW , 5AJX , 5AJY , 5AJZ , 5AK0 , 6ETJ , 6HVH , 6HVI , 6HVJ , 6IBX , 6IBY , 6IBZ , 6IC0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01591 6PF2K 24 246 6-phosphofructo-2-kinase Domain
PF00300 His_Phos_1 249 435 Histidine phosphatase superfamily (branch 1) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fructose and mannose metabolism
Metabolic pathways
HIF-1 signaling pathway
AMPK 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.).
18
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
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM 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
Adenocarcinoma Adenocarcinoma BEFREE 26530697
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29327288
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 26530697
★☆☆☆☆
Found in Text Mining only
Arsenic Encephalopathy Arsenic Encephalopathy CTD_human_DG 16835338
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 31864394 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24043759, 35886000 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27777982 Inhibit
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 31466915
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 17805487, 19490427, 31369092
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 30254083 Associate
★☆☆☆☆
Found in Text Mining only