Gene Gene information from NCBI Gene database.
Entrez ID 5298
Gene name Phosphatidylinositol 4-kinase beta
Gene symbol PI4KB
Synonyms (NCBI Gene)
DFNA87NPIKPI4K-BETAPI4K92PI4KBETAPI4KIIIPI4KIIIBETAPIK4CB
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
358
miRTarBase ID miRNA Experiments Reference
MIRT021489 hsa-miR-191-5p Sequencing 20371350
MIRT050695 hsa-miR-18a-5p CLASH 23622248
MIRT046289 hsa-miR-23b-3p CLASH 23622248
MIRT043436 hsa-miR-331-3p CLASH 23622248
MIRT036853 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 27009356
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0004430 Function 1-phosphatidylinositol 4-kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602758 8984 ENSG00000143393
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
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
MGDTVVEPAPLKPTSEPTSGPPGNNGGSLLSVITEGVGELSVIDPEVAQKACQEVLEKVK
LLHGGVAVSSRGTPLELVNGDGVDSEIRCLDDPPAQIREEEDEMGAAVASGTAKGARRRR
QNNSAKQSWLLRLFESKLFDISMAISYLYNSKEPGVQAYIGNRLFCFRNEDVDFYLPQLL
NMYIHMDEDVGDAIKPYIVHRCRQSINFSLQCALLLGAYSSDMHISTQRHSRGTKLRKLI
LSDELKPAHRKRELPSLSPAPDTGLSPSKRTHQRSKSDATASISLSSNLKRTASNPKVEN
EDEELSSSTESIDNSFSSPVRLAPEREFIKSLMAIGKRLATLPTKEQKTQRLISELSLLN
HKLPARVWLPTAGFDHHVVRVPHTQAVVLNSKDKAPYLIYVEVLECENFDTTSVPARIPE
NRIRSTRSVENLPECGITHEQRAGSFSTVPNYDNDDEAWSVDDIGELQVELPEVHTNSCD
NISQFSVDSITSQESKEPVFIAAGDIRRRLSEQLAHTPTAFKRDPEDPSAVALKEPWQEK
VRRIREGSPYGHLPNWRLLSVIVKCGDDLRQELLAFQVLKQLQSIWEQERVPLWIKPYKI
LVISADSGMIEPVVNAVSIHQVKKQSQLSLLDYFLQEHGSYTTEAFLSAQRNFVQSCAGY
CLVCYLLQVKDRHNGNILLDAEGHIIHIDFGFILSSSPRNLGFETSAFKLTTEFVDVMGG
LDGDMFNYYKMLMLQGLIAARKHMDKVVQIVEIMQQGSQLPCF
HGSSTIRNLKERFHMSM
TEEQLQLLVEQMVDGSMRSITTKLYDGFQYLTNGIM
Sequence length 816
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
  Synthesis of PIPs at the Golgi membrane
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hearing loss, autosomal dominant 87 Pathogenic rs2528758305, rs2528620919, rs2528612732, rs765001640 RCV003152559
RCV003152560
RCV003152561
RCV003152562
★★★★☆
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
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
Associations from Text MiningDisease associations identified through Pubtator
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