Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1577033077	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025952	hsa-miR-7-5p	Microarray	19073608

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
GO:0002931	Process	Response to ischemia	IEA
GO:0002931	Process	Response to ischemia	ISS	30496354
GO:0003376	Process	Sphingosine-1-phosphate receptor signaling pathway	IEA
GO:0003376	Process	Sphingosine-1-phosphate receptor signaling pathway	IMP	18558630
GO:0005515	Function	Protein binding	IPI	19380743, 20713702, 22402981, 25241761, 25556234, 25814554, 26496610, 27107012, 28514442, 32707033, 32814053, 33961781, 35271311, 35512704
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	30496354
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	21383062
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IBA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IEA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IPI	20713702, 22402981
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	NAS	20379207
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006935	Process	Chemotaxis	TAS	10570282
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007165	Process	Signal transduction	NAS	10570282
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	21035500
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	10570282, 21321382
GO:0010508	Process	Positive regulation of autophagy	TAS	21321382
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IGI	18558630
GO:0010628	Process	Positive regulation of gene expression	IMP	25139353
GO:0016301	Function	Kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IBA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	TAS	10570282, 21035500
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	TAS	21035500, 21321382
GO:0016740	Function	Transferase activity	IEA
GO:0030168	Process	Platelet activation	IEA
GO:0030168	Process	Platelet activation	TAS	21035500
GO:0030496	Component	Midbody	IDA
GO:0033031	Process	Positive regulation of neutrophil apoptotic process	IEA
GO:0033031	Process	Positive regulation of neutrophil apoptotic process	IMP	25339672
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IEA
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IGI	18558630
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IBA
GO:0040016	Process	Embryonic cleavage	IEA
GO:0042267	Process	Natural killer cell mediated cytotoxicity	IDA	36248894
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	ISS	30496354
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	30496354
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	18558630, 25339672
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS	30496354
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	21321382
GO:0043560	Function	Insulin receptor substrate binding	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IMP	18558630
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IDA	12502714
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IDA	12502714
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IEA
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	30496354
GO:0052742	Function	Phosphatidylinositol kinase activity	IEA
GO:0060055	Process	Angiogenesis involved in wound healing	IEA
GO:0070527	Process	Platelet aggregation	TAS	21035500
GO:0106310	Function	Protein serine kinase activity	IDA	12502714
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900747	Process	Negative regulation of vascular endothelial growth factor signaling pathway	IGI	30496354
GO:1903298	Process	Negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	IEA
GO:1903671	Process	Negative regulation of sprouting angiogenesis	IMP	30496354
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	TAS	21321382

MIM	HGNC	e!Ensembl
602925	8976	ENSG00000051382

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

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance ErbB signaling pathway Ras signaling pathway Rap1 signaling pathway cAMP signaling pathway Chemokine signaling pathway HIF-1 signaling pathway FoxO signaling pathway Phosphatidylinositol signaling system Sphingolipid signaling pathway Phospholipase D signaling pathway Hormone signaling Autophagy - animal mTOR signaling pathway PI3K-Akt signaling pathway AMPK signaling pathway Apoptosis Longevity regulating pathway Longevity regulating pathway - multiple species Cellular senescence Axon guidance VEGF signaling pathway Osteoclast differentiation Focal adhesion Signaling pathways regulating pluripotency of stem cells Platelet activation Neutrophil extracellular trap formation Toll-like receptor signaling pathway C-type lectin receptor signaling pathway JAK-STAT signaling pathway Natural killer cell mediated cytotoxicity T cell receptor signaling pathway B cell receptor signaling pathway Fc epsilon RI signaling pathway Fc gamma R-mediated phagocytosis TNF signaling pathway Leukocyte transendothelial migration Neurotrophin signaling pathway Cholinergic synapse Inflammatory mediator regulation of TRP channels Regulation of actin cytoskeleton Insulin signaling pathway Progesterone-mediated oocyte maturation Estrogen signaling pathway Prolactin signaling pathway Thyroid hormone signaling pathway Regulation of lipolysis in adipocytes Relaxin signaling pathway GnRH secretion Type II diabetes mellitus Insulin resistance Non-alcoholic fatty liver disease AGE-RAGE signaling pathway in diabetic complications Growth hormone synthesis, secretion and action Aldosterone-regulated sodium reabsorption Carbohydrate digestion and absorption Alzheimer disease Spinocerebellar ataxia Prion disease Bacterial invasion of epithelial cells Shigellosis Salmonella infection Yersinia infection Chagas disease Amoebiasis Hepatitis C Hepatitis B Measles Human cytomegalovirus infection Influenza A Human papillomavirus infection Human T-cell leukemia virus 1 infection Kaposi sarcoma-associated herpesvirus infection Herpes simplex virus 1 infection Epstein-Barr virus infection Human immunodeficiency virus 1 infection Coronavirus disease - COVID-19 Pathways in cancer Viral carcinogenesis Proteoglycans in cancer MicroRNAs in cancer Chemical carcinogenesis - receptor activation Chemical carcinogenesis - reactive oxygen species Colorectal cancer Renal cell carcinoma Pancreatic cancer Endometrial cancer Glioma Prostate cancer Melanoma Chronic myeloid leukemia Acute myeloid leukemia Small cell lung cancer Non-small cell lung cancer Breast cancer Hepatocellular carcinoma Gastric cancer Central carbon metabolism in cancer Choline metabolism in cancer PD-L1 expression and PD-1 checkpoint pathway in cancer Diabetic cardiomyopathy Lipid and atherosclerosis Fluid shear stress and atherosclerosis		PI3K Cascade IRS-mediated signalling GPVI-mediated activation cascade PIP3 activates AKT signaling Synthesis of PIPs at the plasma membrane Downstream signal transduction PI3K/AKT activation Downstream TCR signaling Role of phospholipids in phagocytosis Tie2 Signaling Constitutive Signaling by Aberrant PI3K in Cancer DAP12 signaling Role of LAT2/NTAL/LAB on calcium mobilization VEGFA-VEGFR2 Pathway Interleukin-3, Interleukin-5 and GM-CSF signaling PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling RET signaling Erythropoietin activates Phosphoinositide-3-kinase (PI3K) Interleukin receptor SHC signaling Regulation of signaling by CBL Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
NK-cell enteropathy	Likely pathogenic	rs1577033077	RCV000791315

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
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
Familial cancer of breast	Likely benign; Benign	rs74701669, rs34601499	RCV005905969 RCV005907409
Gastric cancer	Benign	rs34601499	RCV005907417
Hepatocellular carcinoma	Benign	rs34601499	RCV005907411
Lung cancer	Benign	rs34601499	RCV005907420
Malignant tumor of esophagus	Benign	rs34601499	RCV005907412
Malignant tumor of urinary bladder	Benign	rs34601499	RCV005907410
Nonpapillary renal cell carcinoma	Likely benign	rs74701669	RCV005905971
Ovarian serous cystadenocarcinoma	Benign	rs34601499	RCV005907418
Sarcoma	Benign	rs34601499	RCV005907416
Thyroid cancer, nonmedullary, 1	Likely benign; Benign	rs74701669, rs34601499	RCV005905973 RCV005907419

Show/Hide Text Mining Associations (74)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Bacterial Infections	Inhibit	36351402
Brain Neoplasms	Associate	40243539
Breast Neoplasms	Associate	19366795, 25195596, 28196852, 28569218, 29566768, 30659094, 31781306, 34990021, 40327992, 40481104, 40555003, 40696656, 40726220
Carcinogenesis	Associate	28002804, 28196852, 31642198, 36351402
Carcinoma Hepatocellular	Associate	40158165, 40424306
Carcinoma Non Small Cell Lung	Associate	24284056, 31952518, 36634615
Carcinoma Renal Cell	Associate	25528216, 25853938, 26537074
Carcinoma Renal Cell	Inhibit	35665729
Carcinoma Squamous Cell	Associate	24284056, 31952518, 37249797
Cognition Disorders	Associate	28050343
Colorectal Neoplasms	Associate	25473181, 25550888
Diabetes Mellitus Type 2	Associate	20107106
Diabetic Nephropathies	Associate	40312440
Diabetic Retinopathy	Associate	32993645
Drug Related Side Effects and Adverse Reactions	Associate	40147444
Endometrial Neoplasms	Associate	23674493, 28002804
Epilepsies Partial	Associate	40674414
Focal Cortical Dysplasia	Associate	40674414
Focal cortical dysplasia of Taylor	Associate	40674414
Focal Infection	Associate	25528892
Glioblastoma	Associate	26956052, 30542720, 40133683
Glioma	Associate	40656950
Graves Ophthalmopathy	Associate	30733969
Hereditary Breast and Ovarian Cancer Syndrome	Associate	40437613
Hypomagnesemia primary	Associate	37960754
Infections	Associate	36351402
Inflammation	Associate	36351402, 39683581, 40133701, 40191870
Insulin Resistance	Associate	20107106
Leukemia	Associate	40147444
Leukemia Myeloid Acute	Associate	15840695, 39273530
Leukemia Promyelocytic Acute	Associate	19176369
Lung Neoplasms	Associate	40135405
Lupus Erythematosus Systemic	Associate	32576231
Lymphatic Metastasis	Associate	25550888, 35780638
Lymphoma Large B Cell Diffuse	Associate	24418330
Lymphoma Mantle Cell	Associate	23341541
Melanoma	Associate	27391157
Melanosis	Associate	30559147
Mouth Neoplasms	Associate	36849997
Neoplasm Metastasis	Associate	23211529, 25473181
Neoplasms	Associate	18372911, 18498248, 21563232, 23211529, 25473181, 25550888, 26884879, 27310202, 28002804, 28196852, 28569218, 28723560, 29307797, 31292159, 31952518 View all (7 more)
Neoplasms	Stimulate	26956052
Neoplasms	Inhibit	32672423, 34479548, 40312292
Nephrolithiasis Calcium Oxalate	Associate	40191870
Neurodegenerative Diseases	Associate	40141059
Neuroendocrine Tumors	Associate	40390063
Obesity	Associate	20107106
Osteoarthritis	Associate	31886215
Osteosarcoma	Associate	40481236
Ovarian Neoplasms	Associate	21563232
Pancreatic Intraductal Neoplasms	Associate	28776573
Parkinson Disease	Associate	40141059
Peritonitis	Associate	36351402
Pneumonia Pneumococcal	Associate	36351402
Prostatic Neoplasms	Associate	18372911, 20231295, 35328346, 40188042
Respiratory Distress Syndrome	Associate	31531373
Respiratory Tract Infections	Associate	36351402
Stomach Neoplasms	Associate	27156070
Thyroid Cancer Papillary	Associate	31642198
Triple Negative Breast Neoplasms	Associate	32672423
Tuberculosis Multidrug Resistant	Associate	25550888, 31952518, 40332431
Urinary Bladder Neoplasms	Associate	40586548
Uterine Cervical Neoplasms	Associate	40238841
Vitiligo	Stimulate	31885781

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