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
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 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 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 rs886041591, rs1057519801, rs1568636630, rs587776934, rs587777624 N/A
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome megalencephaly-capillary malformation-polymicrogyria syndrome rs587776934 N/A
Multiple myeloma multiple myeloma rs1418268495, rs1212577459 N/A
seizure Seizure rs886041591 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome N/A N/A GenCC
Associations from Text Mining Disease 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