Gene Gene information from NCBI Gene database.
Entrez ID 5296
Gene name Phosphoinositide-3-kinase regulatory subunit 2
Gene symbol PIK3R2
Synonyms (NCBI Gene)
MPPHMPPH1P85Bp85p85-BETAp85beta
Chromosome 19
Chromosome location 19p13.11
Summary 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.
12
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.
474
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0001678 Process Intracellular glucose homeostasis ISS
GO:0001784 Function Phosphotyrosine residue binding IEA
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0005096 Function GTPase activator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603157 8980 ENSG00000105647
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
355
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs587776934 RCV001526656
Megalencephaly-capillary malformation-polymicrogyria syndrome Pathogenic rs587776934 RCV000416575
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Pathogenic; Likely pathogenic rs587777624, rs886041591, rs1057519801, rs587776934, rs1568636630, rs2043757489, rs2043767578 RCV000133505
RCV003236667
RCV002250624
RCV000033029
RCV000767347
RCV001254099
RCV001289463
Multiple myeloma Likely pathogenic rs1418268495, rs1212577459 RCV000984100
RCV000984112
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Melanoma Benign; Likely benign rs147990742 RCV005897262
Overgrowth syndrome Uncertain significance rs781265051 RCV003458279
Overgrowth syndrome and/or cerebral malformations Conflicting classifications of pathogenicity rs1131691683 RCV005863846
Associations from Text MiningDisease associations identified through Pubtator
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