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Aliases for PIK3R2 Gene

Aliases for PIK3R2 Gene

  • Phosphoinositide-3-Kinase Regulatory Subunit 2 2 3 5
  • Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Beta 3 4
  • Phosphoinositide-3-Kinase, Regulatory Subunit 2 (Beta) 2 3
  • Phosphoinositide-3-Kinase Regulatory Subunit Beta 2 3
  • PtdIns-3-Kinase Regulatory Subunit P85-Beta 3 4
  • PI3K Regulatory Subunit Beta 3 4
  • PI3-Kinase Subunit P85-Beta 3 4
  • Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 2 (P85 Beta) 3
  • Phosphatidylinositol 3-Kinase Regulatory Subunit Beta 3
  • PtdIns-3-Kinase Regulatory Subunit Beta 4
  • PI3-Kinase Regulatory Subunit Beta 4
  • P85-BETA 3
  • MPPH1 3
  • MPPH 3
  • P85B 3
  • P85 3

External Ids for PIK3R2 Gene

Previous GeneCards Identifiers for PIK3R2 Gene

  • GC19P018760
  • GC19P018658
  • GC19P018108
  • GC19P018127
  • GC19P018089
  • GC19P018263
  • GC19P017828

Summaries for PIK3R2 Gene

Entrez Gene Summary for PIK3R2 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 subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]

CIViC summary for PIK3R2 Gene

GeneCards Summary for PIK3R2 Gene

PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2) is a Protein Coding gene. Diseases associated with PIK3R2 include Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 and Mpph Syndrome. Among its related pathways are 4-1BB Pathway and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. GO annotations related to this gene include protein heterodimerization activity and receptor tyrosine kinase binding. An important paralog of this gene is ENSG00000268173.

UniProtKB/Swiss-Prot for PIK3R2 Gene

  • 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-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity).

Tocris Summary for PIK3R2 Gene

  • PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.

Gene Wiki entry for PIK3R2 Gene

Additional gene information for PIK3R2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3R2 Gene

Genomics for PIK3R2 Gene

Regulatory Elements for PIK3R2 Gene

Enhancers for PIK3R2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H018150 1.4 ENCODE dbSUPER 0.7 -0.3 -326 4 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KIAA1683 PDE4C ENSG00000268030 UPF1 ENSG00000268938 COLGALT1 ENSG00000269191 LOC100507551 GTPBP3 ENSG00000268199
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIK3R2 on UCSC Golden Path with GeneCards custom track

Promoters for PIK3R2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108021 -118 2001 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A ZNF2 YY1 ZNF143

Genomic Location for PIK3R2 Gene

Chromosome:
19
Start:
18,153,118 bp from pter
End:
18,170,540 bp from pter
Size:
17,423 bases
Orientation:
Plus strand

Genomic View for PIK3R2 Gene

Genes around PIK3R2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3R2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3R2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3R2 Gene

Proteins for PIK3R2 Gene

  • Protein details for PIK3R2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00459-P85B_HUMAN
    Recommended name:
    Phosphatidylinositol 3-kinase regulatory subunit beta
    Protein Accession:
    O00459
    Secondary Accessions:
    • Q5EAT5
    • Q9UPH9

    Protein attributes for PIK3R2 Gene

    Size:
    728 amino acids
    Molecular mass:
    81545 Da
    Quaternary structure:
    • Heterodimer of a regulatory subunit PIK3R2 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD) (PubMed:23604317). Interacts with AXL (PubMed:9178760). Interacts with FLT1 (tyrosine-phosphorylated) and FLT4 (tyrosine-phosphorylated) (PubMed:9600074, PubMed:15102829). Interacts with NYAP1, NYAP2 and MYO16 (By similarity). Interacts with FBXL2; PIK3R2 is a substrate of the SCF(FBXL2) complex (PubMed:23604317). Interacts with PTPN13; dephosphorylates PIK3R2 (PubMed:23604317). Interacts with XBP1 isoform 2; the interaction is direct and induces translocation of XBP1 isoform 2 into the nucleus in a ER stress-and/or insulin-dependent but PI3K-independent manner (By similarity). Interacts with PIK3R1; the interaction is dissociated in an insulin-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for PIK3R2 Gene

neXtProt entry for PIK3R2 Gene

Post-translational modifications for PIK3R2 Gene

  • Phosphorylated in response to signaling from activated receptor-type protein kinases (PubMed:19690332, PubMed:20068231). Dephosphorylated by PTPRJ (PubMed:18348712). Dephosphorylated at Tyr-655 by PTPN13. Phosphorylation of Tyr-655 impairs while its dephosphorylation promotes interaction with FBXL2 and SCF(FBXL2)-mediated polyubiquitination (PubMed:23604317).
  • Ubiquitinated. Polyubiquitination by the SCF(FBXL2) complex probably promotes proteasomal degradation of PIK3R2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIK3R2 Gene

Antibody Products

  • R&D Systems Antibodies for PIK3R2 (PI 3-Kinase p85 beta)
  • Cell Signaling Technology (CST) Antibodies for PIK3R2 (PIK3R2)

No data available for DME Specific Peptides for PIK3R2 Gene

Domains & Families for PIK3R2 Gene

Gene Families for PIK3R2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O00459

UniProtKB/Swiss-Prot:

P85B_HUMAN :
  • The SH2 2 domain is required for interaction with FBXL2 and PTPN13.
  • Belongs to the PI3K p85 subunit family.
Domain:
  • The SH2 2 domain is required for interaction with FBXL2 and PTPN13.
Family:
  • Belongs to the PI3K p85 subunit family.
genes like me logo Genes that share domains with PIK3R2: view

Function for PIK3R2 Gene

Molecular function for PIK3R2 Gene

GENATLAS Biochemistry:
phosphatidylinositol 3-kinase (p85 beta),regulatory subunit,class IA adaptor molecule associating 110-120kDa catalytic subunits,interacting with tyrosine kinase (signal transduction),interacting with inositol polyphosphatase 4-phosphatase and inositol polyphosphatase 5-phosphatase,expressed in B and T cells
UniProtKB/Swiss-Prot 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-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity).

Gene Ontology (GO) - Molecular Function for PIK3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine binding IPI 20624904
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 7537096
GO:0016303 1-phosphatidylinositol-3-kinase activity TAS --
GO:0019903 protein phosphatase binding IPI 23604317
genes like me logo Genes that share ontologies with PIK3R2: view
genes like me logo Genes that share phenotypes with PIK3R2: view

Human Phenotype Ontology for PIK3R2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIK3R2 Gene

MGI Knock Outs for PIK3R2:

Animal Model Products

CRISPR Products

miRNA for PIK3R2 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIK3R2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PIK3R2 Gene

Localization for PIK3R2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIK3R2 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIK3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005829 cytosol TAS --
GO:0005942 phosphatidylinositol 3-kinase complex IEA,IBA --
genes like me logo Genes that share ontologies with PIK3R2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PIK3R2 Gene

Pathways & Interactions for PIK3R2 Gene

SuperPathways for PIK3R2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Endometrial cancer
.52
.46
3 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
4 IL-2 Pathway
5 Apoptotic Pathways in Synovial Fibroblasts
genes like me logo Genes that share pathways with PIK3R2: view

Pathways by source for PIK3R2 Gene

SIGNOR curated interactions for PIK3R2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIK3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis ISS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0007165 signal transduction IEA --
GO:0008286 insulin receptor signaling pathway IBA --
genes like me logo Genes that share ontologies with PIK3R2: view

Drugs & Compounds for PIK3R2 Gene

(39) Drugs for PIK3R2 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isoproterenol Approved Pharma Full agonist, Agonist, Target, agonist 24
3-Methyladenine Experimental Pharma Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy 0
SF1126 Investigational Pharma inhibitor, Target Kinase Inhibitors 0
GSK2636771 Pharma inhibitor PIK3 inhibitor, Kinase Inhibitors 0
XL147 Pharma inhibitor PI3K inhibitor,selective and reversible, Kinase Inhibitors, Phosphatidylinositol-3- kinase (PI-3K) inhibitors 0

(3) Additional Compounds for PIK3R2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LY 294002 hydrochloride
934389-88-5

(5) Tocris Compounds for PIK3R2 Gene

Compound Action Cas Number
3-Methyladenine Class III PI 3-kinase inhibitor; also inhibits autophagy 5142-23-4
740 Y-P Cell-permeable PI 3-kinase activator 1236188-16-1
LY 294002 hydrochloride Prototypical PI 3-kinase inhibitor; also inhibits other kinases 934389-88-5
PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK 371935-79-4
PI 828 PI 3-kinase inhibitor, more potent than LY 294002 (Cat. No. 1130) 942289-87-4

(14) ApexBio Compounds for PIK3R2 Gene

Compound Action Cas Number
A66 P110α inhibitor 1166227-08-2
AS-605240 Potent and selective PI 3-Kγ inhibitor 648450-29-7
BEZ235 Tosylate MTOR/P13K inhibitor 1028385-32-1
GSK2636771 PIK3 inhibitor 1372540-25-4
HS-173 1276110-06-5
IC-87114 PI3Kδ inhibitor 371242-69-2
IPI-145 (INK1197) PI3K-δ/PI3K-γ inhibitor 1201438-56-3
LY 294002 Potent PI3K inhibitor 154447-36-6
PI-3065 P110δkinase inhibitor 955977-50-1
SAR245409 (XL765) mTOR/PI3K inhibitor 1349796-36-6
TG100-115 PI3Kγ/PI3Kδ inhibitor 677297-51-7
TG100713 925705-73-3
Wortmannin PI3K inhibitor,selective and irreversible 19545-26-7
XL147 PI3K inhibitor,selective and reversible 956958-53-5
genes like me logo Genes that share compounds with PIK3R2: view

Drug Products

Transcripts for PIK3R2 Gene

Unigene Clusters for PIK3R2 Gene

Phosphoinositide-3-kinase, regulatory subunit 2 (beta):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIK3R2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3R2 Gene

No ASD Table

Relevant External Links for PIK3R2 Gene

GeneLoc Exon Structure for
PIK3R2
ECgene alternative splicing isoforms for
PIK3R2

Expression for PIK3R2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIK3R2 Gene

Protein differential expression in normal tissues from HIPED for PIK3R2 Gene

This gene is overexpressed in Breast (38.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIK3R2 Gene



Protein tissue co-expression partners for PIK3R2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PIK3R2 Gene:

PIK3R2

SOURCE GeneReport for Unigene cluster for PIK3R2 Gene:

Hs.371344

Evidence on tissue expression from TISSUES for PIK3R2 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3R2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • meninges
  • mouth
  • nose
  • skull
Thorax:
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • kidney
Pelvis:
  • pelvis
Limb:
  • digit
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PIK3R2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIK3R2 Gene

Orthologs for PIK3R2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIK3R2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIK3R2 33 34
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 97 (a)
OneToMany
PIK3R2 33
  • 90.49 (n)
cow
(Bos Taurus)
Mammalia PIK3R2 33 34
  • 89.86 (n)
mouse
(Mus musculus)
Mammalia Pik3r2 33 16 34
  • 84.15 (n)
rat
(Rattus norvegicus)
Mammalia Pik3r2 33
  • 83.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves PIK3R2 33
  • 73.12 (n)
-- 34
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 76 (a)
ManyToMany
-- 34
  • 70 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3r2 33
  • 62.25 (n)
zebrafish
(Danio rerio)
Actinopterygii pik3r2 33 34
  • 64.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pi3K21B 34
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aap-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for PIK3R2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIK3R2 Gene

ENSEMBL:
Gene Tree for PIK3R2 (if available)
TreeFam:
Gene Tree for PIK3R2 (if available)

Paralogs for PIK3R2 Gene

Paralogs for PIK3R2 Gene

(4) SIMAP similar genes for PIK3R2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PIK3R2: view

Variants for PIK3R2 Gene

Sequence variations from dbSNP and Humsavar for PIK3R2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs372272045 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] 18,167,239(+) AGATC(C/G/T)ACAAG nc-transcript-variant, reference, missense
rs587776934 Pathogenic, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] 18,162,974(+) AAGGC(A/G)GGAAC nc-transcript-variant, reference, missense
rs587777624 Pathogenic, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] 18,163,059(+) GGACC(C/T)CATCA nc-transcript-variant, reference, missense
VAR_075556 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387]
rs886041591 Pathogenic 18,162,983(+) ACAAT(A/G)AGCTG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PIK3R2 Gene

Variant ID Type Subtype PubMed ID
esv2677454 CNV deletion 23128226
esv3643831 CNV loss 21293372
nsv1160592 CNV deletion 26073780
nsv2429 CNV deletion 18451855
nsv833773 CNV loss 17160897
nsv833774 CNV loss 17160897
nsv833775 CNV loss 17160897
nsv952420 CNV deletion 24416366

Variation tolerance for PIK3R2 Gene

Residual Variation Intolerance Score: 7.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.18; 51.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIK3R2 Gene

Human Gene Mutation Database (HGMD)
PIK3R2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3R2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3R2 Gene

Disorders for PIK3R2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for PIK3R2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
  • megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
mpph syndrome
  • megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome
megalencephaly
  • macroencephaly
uterine body mixed cancer
  • malignant mixed tumor of corpus uteri
polymicrogyria
  • pmg
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

P85B_HUMAN
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387]: A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. {ECO:0000269 PubMed:22729224, ECO:0000269 PubMed:23745724, ECO:0000269 PubMed:26520804, ECO:0000269 PubMed:26860062}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIK3R2

Genetic Association Database (GAD)
PIK3R2
Human Genome Epidemiology (HuGE) Navigator
PIK3R2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIK3R2
genes like me logo Genes that share disorders with PIK3R2: view

No data available for Genatlas for PIK3R2 Gene

Publications for PIK3R2 Gene

  1. Chromosomal localization of human p85 alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85 beta. (PMID: 1314371) Volinia S … Waterfield MD (Oncogene 1992) 2 3 4 60
  2. De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. (PMID: 26860062) Terrone G … Reymond A (European journal of human genetics : EJHG 2016) 3 4 60
  3. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. (PMID: 26520804) Mirzaa GM … Guerrini R (The Lancet. Neurology 2015) 3 4 60
  4. FBXL2- and PTPL1-mediated degradation of p110-free p85β regulatory subunit controls the PI(3)K signalling cascade. (PMID: 23604317) Kuchay S … Pagano M (Nature cell biology 2013) 3 4 60
  5. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. (PMID: 22729224) Rivière JB … Dobyns WB (Nature genetics 2012) 3 4 60

Products for PIK3R2 Gene

Sources for PIK3R2 Gene

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