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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P78356 |
| Protein name |
Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (EC 2.7.1.149) (1-phosphatidylinositol 5-phosphate 4-kinase 2-beta) (Diphosphoinositide kinase 2-beta) (Phosphatidylinositol 5-phosphate 4-kinase type II beta) (PI(5)P 4-kinase type II beta) (PIP4KII-b |
| Protein function |
Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate (PubMed:26774281, PubMed:9038203). Preferentially utilizes GTP, rather than ATP, for PI(5)P phosphorylation and its activity reflects changes in direct proportion to the p |
| PDB |
1BO1
, 3WZZ
, 3X01
, 3X02
, 3X03
, 3X04
, 3X05
, 3X06
, 3X07
, 3X08
, 3X09
, 3X0A
, 3X0B
, 3X0C
, 6K4G
, 6K4H
, 7EM1
, 7EM2
, 7EM3
, 7EM4
, 7EM5
, 7EM6
, 7EM7
, 7EM8
, 7N80
, 7N81
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF01504 |
PIP5K |
122 → 414 |
Phosphatidylinositol-4-phosphate 5-Kinase |
Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in brain, heart, pancreas, skeletal muscle and kidney. Detected at lower levels in placenta, lung and liver. {ECO:0000269|PubMed:9038203}. |
| Sequence |
|
| Sequence length |
416 |
| Interactions |
View interactions |
|
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)
|
| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| BREAST CANCER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CARCINOMA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERY DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL INFARCTION |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24127122, 33176066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
24127122 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
31109595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
31488171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
31109595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
24127122 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
24127122, 24209622, 31488171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
31488171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
|