Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5296
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoinositide-3-kinase regulatory subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIK3R2
Synonyms (NCBI Gene) Gene synonyms aliases
MPPH, MPPH1, P85B, p85, p85-BETA, p85beta
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MPPH1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez Gene.
Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subun
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs372272045 G>C,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs587776934 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs587777624 T>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs886041591 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs886041602 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003894 hsa-miR-126-3p Western blot 18663744
MIRT003894 hsa-miR-126-3p qRT-PCR 18663744
MIRT003894 hsa-miR-126-3p Luciferase reporter assay 18663744
MIRT003894 hsa-miR-126-3p Luciferase reporter assay 18663744
MIRT003894 hsa-miR-126-3p Luciferase reporter assay 18663744
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Cellular glucose homeostasis ISS
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0005515 Function Protein binding IPI 7537096, 16273093, 16963558, 17500595, 19380743, 20936779, 21516116, 21706016, 22402981, 22810585, 23604317, 23853584, 24189400, 24658140, 24728074, 25416956, 25814554, 28169297, 28514442, 29892012, 31515488, 31980649, 32814053
GO:0005634 Component Nucleus ISS
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603157 8980 ENSG00000105647
Protein
UniProt ID O00459
Protein name Phosphatidylinositol 3-kinase regulatory subunit beta (PI3-kinase regulatory subunit beta) (PI3K regulatory subunit beta) (PtdIns-3-kinase regulatory subunit beta) (Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta) (PI3-kinase subunit p85-beta
Protein function Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain
PDB 2KT1 , 2XS6 , 3MTT , 3O5Z , 6OX7 , 6U28 , 7RCH , 7RNU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00620 RhoGAP 125 263 RhoGAP domain Domain
PF00017 SH2 330 405 SH2 domain Domain
PF16454 PI3K_P85_iSH2 428 596 Phosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain Domain
PF00017 SH2 622 696 SH2 domain Domain
Sequence
Sequence length 728
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  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
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
Interleukin-7 signaling
Signaling by SCF-KIT
Synthesis of PIPs at the plasma membrane
Downstream signal transduction
Rho GTPase cycle
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
Costimulation by the CD28 family
CD28 dependent PI3K/Akt signaling
G alpha (q) signalling events
VEGFA-VEGFR2 Pathway
Interleukin-3, Interleukin-5 and GM-CSF signaling
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
RET signaling
Extra-nuclear estrogen signaling
Interleukin receptor SHC signaling
Regulation of signaling by CBL
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Endometrial carcinoma Carcinoma in situ of endometrium, Endometrial Carcinoma rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077
View all (247 more)
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32395869
Agenesis of Corpus Callosum Associate 26860062
Alzheimer Disease Associate 22044025
Anemia Aplastic Associate 26354756
Arthritis Rheumatoid Associate 27729613, 37904709
Band Heterotopia of Brain Associate 24497998
Brain Diseases Associate 26520804
Breast Neoplasms Associate 25098276
Carcinogenesis Associate 36857183
Carcinoma Hepatocellular Associate 38059827