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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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Q9UBF8 |
| Protein name |
Phosphatidylinositol 4-kinase beta (PI4K-beta) (PI4Kbeta) (PtdIns 4-kinase beta) (EC 2.7.1.67) (NPIK) (PI4K92) (PI4KIII) |
| Protein function |
Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization during mitosis, possibly via its phosphorylation |
| PDB |
2N73
, 4D0L
, 4D0M
, 4WAE
, 4WAG
, 5C46
, 5C4G
, 5EUQ
, 5FBL
, 5FBQ
, 5FBR
, 5FBV
, 5FBW
, 5LX2
, 5NAS
, 6GL3
, 8Q6F
, 8Q6G
, 8Q6H
, 8VOF
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00454 |
PI3_PI4_kinase |
559 → 763 |
Phosphatidylinositol 3- and 4-kinase |
Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed with highest levels in heart, skeletal muscle, pancreas, testis and ovary. Weakly expressed in liver (PubMed:9020160, PubMed:9405935, PubMed:9405938). Expressed in the innear ear in the epithelium of the spinal organ o |
| Sequence |
|
| Sequence length |
816 |
| Interactions |
View interactions |
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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)
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|
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| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| DEAFNESS, AUTOSOMAL DOMINANT 87 |
— |
Disgenet, HPO
Disgenet, HPO
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PI4KB-related disorder |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEVERE ACUTE RESPIRATORY SYNDROME |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Relationship Type |
References |
Evidence Score |
| Adenocarcinoma of Lung |
Associate |
34155143 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Associate |
31759986 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Enterovirus Infections |
Associate |
38189249 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Associate |
37616163 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Associate |
32187552 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Associate |
30158316 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Associate |
18353764, 34155143 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Associate |
26213922 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Diseases |
Associate |
34469896 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycythemia Vera |
Associate |
21177810 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Associate |
18353764 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| SeSAME syndrome |
Associate |
31640787 |
★★★★★★☆☆☆☆ Found in Text Mining only |
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