Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5209
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PFKFB3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
IPFK2, PFK2, iPFK-2 |
Chromosome
Chromosome number
|
10 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10p15.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
20882379 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Mental Depression, Unipolar Depression, Major Depressive Disorder |
|
23333658 |
ClinVar |
Alopecia Areata |
Alopecia Areata |
|
|
GWAS |
Stress Disorder |
Stress Disorder |
|
|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Hypothyroidism |
Hypothyroidism |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Arthritis Psoriatic |
Associate
|
31864394 |
Arthritis Rheumatoid |
Associate
|
24043759, 35886000 |
Arthritis Rheumatoid |
Inhibit
|
27777982 |
Autoimmune Diseases |
Associate
|
30254083 |
Brain Ischemia |
Associate
|
39969331 |
Breast Neoplasms |
Associate
|
24515104, 36973739 |
Carcinogenesis |
Associate
|
27079271 |
Carcinoma Hepatocellular |
Associate
|
24568531 |
Carcinoma Non Small Cell Lung |
Associate
|
31126985, 34359849 |
Carcinoma Renal Cell |
Associate
|
37253634 |
Cerebral Infarction |
Associate
|
38320734 |
Cholangiocarcinoma |
Associate
|
34871464 |
Chronobiology Disorders |
Stimulate
|
39256343 |
Colorectal Neoplasms |
Associate
|
24829520, 31671668, 32990355 |
Colorectal Neoplasms |
Stimulate
|
36733385 |
COVID 19 |
Associate
|
33228475 |
Dementia Vascular |
Associate
|
38320734 |
Diabetes Mellitus |
Associate
|
36973739 |
Diabetes Mellitus Type 1 |
Associate
|
30254083 |
Diabetes Mellitus Type 2 |
Associate
|
30254083 |
Diabetic Nephropathies |
Associate
|
37986381 |
Disease |
Associate
|
25052311 |
DNA Virus Infections |
Associate
|
27901115 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
29866066, 31671668 |
Endometrial Neoplasms |
Associate
|
33420377 |
Esophageal Squamous Cell Carcinoma |
Associate
|
32282711 |
Glioblastoma |
Associate
|
28834297, 34234350 |
Hemorrhage |
Stimulate
|
39969331 |
Hemorrhagic Stroke |
Stimulate
|
39969331 |
Hyperglycemia |
Stimulate
|
35094634, 36973739 |
Hyperglycemia |
Associate
|
36577299 |
Hyperplasia |
Associate
|
37047426 |
Hypoxia |
Stimulate
|
11744734, 16698023, 23840896 |
Hypoxia |
Associate
|
15598882 |
Hypoxia Brain |
Associate
|
11536182, 26337471 |
Idiopathic Pulmonary Fibrosis |
Associate
|
34280322 |
Immunologic Deficiency Syndromes |
Associate
|
35131382 |
Inflammation |
Associate
|
35367413, 36405760 |
Inflammatory Bowel Diseases |
Associate
|
36405760 |
Insulin Resistance |
Associate
|
27535281 |
Invasive Pulmonary Aspergillosis |
Associate
|
34044589 |
Latent Autoimmune Diabetes in Adults |
Associate
|
30254083 |
Leydig Cell Tumor |
Associate
|
35367413 |
Lung Neoplasms |
Associate
|
31126985 |
Lymphatic Metastasis |
Stimulate
|
27983531 |
Mesothelioma Malignant |
Associate
|
35794237 |
Mouth Neoplasms |
Associate
|
33762576 |
Multiple Myeloma |
Associate
|
35371618 |
Muscular Dystrophy Duchenne |
Associate
|
39595988 |
Nasopharyngeal Carcinoma |
Associate
|
35131382 |
Neoplasm Metastasis |
Associate
|
32282711 |
Neoplasms |
Associate
|
10077634, 15598882, 15640157, 24633012, 24829520, 26337471, 27079271, 27803158, 28049552, 28945981, 29967256, 30250201, 31671668, 32282711, 33420377, 33762576, 33813027, 34234350, 35131382, 35444287, 35637411, 36405760, 36733385, 37047426, 37253634, 40022029 View all (11 more) |
Neoplasms |
Stimulate
|
19473963, 35094634 |
Neoplasms |
Inhibit
|
27491040 |
Non Muscle Invasive Bladder Neoplasms |
Associate
|
26980488 |
Obesity |
Stimulate
|
35787188 |
Ovarian Neoplasms |
Associate
|
29866066 |
Pneumonia |
Associate
|
32778874 |
Pre Eclampsia |
Associate
|
30819197 |
Prostatic Neoplasms |
Associate
|
31410981 |
Pulmonary Fibrosis |
Associate
|
34775492 |
Rhabdomyosarcoma |
Associate
|
29620138 |
Sepsis |
Associate
|
31093495 |
Severe Acute Respiratory Syndrome |
Stimulate
|
32778874 |
Stomach Neoplasms |
Associate
|
27983531, 33390824, 35637411 |
Stomach Neoplasms |
Stimulate
|
35094634 |
Stroke |
Stimulate
|
39969331 |
Thyroid Neoplasms |
Associate
|
36990998 |
Tongue Neoplasms |
Associate
|
27079271 |
Urinary Bladder Neoplasms |
Associate
|
26980488 |
|