PIK3CB (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 5291
Gene name Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
Gene symbol PIK3CB
Synonyms (NCBI Gene)
P110BETAPI3KPI3KBETAPIK3C1
Chromosome 3
Chromosome location 3q22.3
Summary This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encod
SNPs SNP information provided by dbSNP.
1
Gene SNPs Other IDs Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1577033077 C>A Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs Other IDs Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT025952 hsa-miR-7-5p Microarray 19073608
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
85
Gene SNPs Other IDs Associated diseases
Show/Hide all (85)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001935 Process Endothelial cell proliferation IEA
GO:0001952 Process Regulation of cell-matrix adhesion IEA
GO:0001952 Process Regulation of cell-matrix adhesion IMP 25139353
GO:0002443 Process Leukocyte mediated immunity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
602925 8976 ENSG00000051382
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42338
Protein name Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform (PI3-kinase subunit beta) (PI3K-beta) (PI3Kbeta) (PtdIns-3-kinase subunit beta) (EC 2.7.1.153) (Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta) (P
Protein function Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02192 PI3K_p85B 42 → 117 PI3-kinase family, p85-binding domain Family
PF00794 PI3K_rbd 180 → 288 PI3-kinase family, ras-binding domain Domain
PF00792 PI3K_C2 347 → 490 Phosphoinositide 3-kinase C2 Domain
PF00613 PI3Ka 527 → 711 Phosphoinositide 3-kinase family, accessory domain (PIK domain) Family
PF00454 PI3_PI4_kinase 799 → 1017 Phosphatidylinositol 3- and 4-kinase Family
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously.
Sequence 
MCFSFIMPPAMADILDIWAVDSQIASDGSIPVDFLLPTGIYIQLEVPREATISYIKQMLW
KQVHNYPMFNLLMDIDSYMFACVNQTAVYEELEDETRRLCDVRPFLPVLKLVTRSCDPGE
KLDSKIGVLIGKGLHEFDSLKDPEVNEFRRKMRKFSEEKILSLVGLSWMDWLKQTYPPEH
EPSIPENLEDKLYGGKLIVAVHFENCQDVFSFQVSPNMNPIKVNELAIQKRLTIHGKEDE
VSPYDYVLQVSGRVEYVFGDHPLIQFQYIRNCVMNRALPHFILVECCKIKKMYEQEMIAI
EAAINRNSSNLPLPLPPKKTRIISHVWENNNPFQIVLVKGNKLNTEETVKVHVRAGLFHG
TELLCKTIVSSEVSGKNDHIWNEPLEFDINICDLPRMARLCFAVYAVLDKVKTKKSTKTI
NPSKYQTIRKAGKVHYPVAWVNTMVFDFKGQLRTGDIILHSWSSFPDELEEMLNPMGTVQ
TNPYTENATALHVKFPENKKQPYYYPPFDKIIEKAAEIASSDSANVSSRGGKKFLPVLKE
ILDRDPLSQLCENEMDLIWTLRQDCREIFPQSLPKLLLSIKWNKLEDVAQLQALLQIWPK
LPPREALELLDFNYPDQYVREYAVGCLRQMSDEELSQYLLQLVQVLKYEPFLDCALSRFL
LERALGNRRIGQFLFWHLRSEVHIPAVSVQFGVILEAYCRGSVGHMKVLSKQVEALNKLK
TLNSLIKLNAVKLNRAKGKEAMHTCLKQSAYREALSDLQSPLNPCVILSELYVEKCKYMD
SKMKPLWLVYNNKVFGEDSVGVIFKNGDDLRQDMLTLQMLRLMDLLWKEAGLDLRMLPYG
CLATGDRSGLIEVVSTSETIADIQLNSSNVAAAAAFNKDALLNWLKEYNSGDDLDRAIEE
FTLSCAGYCVASYVLGIGDRHSDNIMVKKTGQLFHIDFGHILGNFKSKFGIKRERVPFIL
TYDFIHVIQQGKTGNTEKFGRFRQCCEDAYLILRRHGNLFITLFALMLTAGLPELTSVKD
IQYLKDSLALGKSEEEALKQFKQKFDEALRESWTTKVNWMAHTVRKDYRS
Sequence length 1070
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
NK-cell enteropathy Likely pathogenic rs1577033077 RCV000791315
Show/Hide Unknown Diseases (14)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign; Benign rs74701669, rs34601499 RCV005905972
RCV005907413
Clear cell carcinoma of kidney Benign rs34601499 RCV005907414
Colon adenocarcinoma Likely benign rs74701669 RCV005905970
Colorectal cancer Benign rs34601499 RCV005907415
Show/Hide Text Mining Associations (74)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 25473181, 26884879, 37249797, 40243539
Adenocarcinoma of Lung Stimulate 35780638
Adenocarcinoma of Lung Associate 40243539
Adenoma Associate 26884879
Adenoma Villous Stimulate 26884879
Alzheimer Disease Associate 30611996, 40141059, 40273555, 40332288
Alzheimer Disease Inhibit 35096262
Arthritis Rheumatoid Associate 40190499
Autoimmune Diseases Associate 40141059
Bacteremia Inhibit 36351402