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
External Ids for PIK3R2 Gene
- HGNC: 8980
- Entrez Gene: 5296
- Ensembl: ENSG00000105647
- OMIM: 603157
- UniProtKB: O00459
Previous GeneCards Identifiers for PIK3R2 Gene
- GC19P018760
- GC19P018658
- GC19P018108
- GC19P018127
- GC19P018089
- GC19P018263
- GC19P017828
Summaries 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]
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 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome. Among its related pathways are ERK Signaling and mTOR Pathway. Gene Ontology (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).
-
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.
Additional gene information for PIK3R2 Gene
- Monarch Initiative
- Search for PIK3R2 at DataMed
- Search for PIK3R2 at HumanCyc
No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3R2 Gene
Genomics for PIK3R2 Gene
GeneHancer (GH) Regulatory Elements for PIK3R2 Gene
Promoters and enhancers for PIK3R2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PIK3R2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PIK3R2 gene promoter:
-
- Egr-1
- deltaCREB
- CREB
- CUTL1
- AP-4
- SREBP-1a
- SREBP-1b
- SREBP-1c
- Elk-1
- Spz1
Regulatory Element Products
Genomic Locations for PIK3R2 Gene
Genomic Locations for PIK3R2 Gene
- chr19:18,153,118-18,170,540
- (GRCh38/hg38)
- Size:
- 17,423 bases
- Orientation:
- Plus strand
- chr19:18,263,928-18,281,350
- (GRCh37/hg19)
- 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:
-
- 19p13.11 by Entrez Gene
- 19p13.11 by HGNC
- 19p13.11 by Ensembl
PIK3R2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PIK3R2 (PI 3-Kinase p85 beta)
-
Custom Antibody ServicesOriGene Antibodies for PIK3R2
- Novus Biologicals Antibodies for PIK3R2
-
Abcam antibodies for PIK3R2
- Invitrogen Antibodies for PIK3R2 (AFLGC-PIK3R2)
- GeneTex PIK3R2 Antibody for PIK3R2
-
Santa Cruz Biotechnology (SCBT) Antibodies for PIK3R2
- Sino Biological Antibodies for PIK3R2
Protein Products
-
OriGene Purified Proteins for PIK3R2
- Search Origene for MassSpec and Protein Over-expression Lysates for PIK3R2
- Origene Custom Protein Services for PIK3R2
- Search GeneTex for Proteins for PIK3R2
-
Abcam proteins for PIK3R2
Assay Products
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
Protein Domains for PIK3R2 Gene
Suggested Antigen Peptide Sequences for PIK3R2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00459UniProtKB/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.
Function for PIK3R2 Gene
Molecular function for PIK3R2 Gene
- 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).
- 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
Phenotypes From GWAS Catalog for PIK3R2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001784 | phosphotyrosine residue binding | IPI | 20624904 |
| GO:0005096 | GTPase activator activity | TAS | -- |
| GO:0005515 | protein binding | IEA,IPI | 7537096 |
| GO:0016303 | 1-phosphatidylinositol-3-kinase activity | TAS | -- |
| GO:0019903 | protein phosphatase binding | IPI | 23604317 |
Phenotypes for PIK3R2 Gene
- MGI mutant phenotypes for PIK3R2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PIK3R2:
-
- Decreased viability
- Moderately decreased NFAT1-GFP nuclear translocation
- Increased shRNA abundance (Z-score > 2)
- Decreased viability after gemcitabine stimulation
- Decreased shRNA abundance (Z-score < -2)
- Decreased homologous recombination repair frequency
- Decreased viability in esophageal squamous lineage
- Decreased shRNA abundance
- Increased Nanog expression
- Decreased cell migration
- no effect
- Increased vaccinia virus (VACV) infection
- Apoptosis resistance
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Models for PIK3R2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PIK3R2
-
CRISPR Products
-
OriGene CRISPR knockouts for PIK3R2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3R2
- genomics-online: gRNA clones - Search results for available Pik3r2 gene related products
- Applied Biological Materials CRISPR for PIK3R2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIK3R2
- GenScript: Design CRISPR guide RNA sequences for PIK3R2
miRNA for PIK3R2 Gene
- miRTarBase miRNAs that target PIK3R2
-
- hsa-mir-126-3p (MIRT003894)
- hsa-mir-30c-5p (MIRT007136)
- hsa-mir-133a-3p (MIRT021712)
- hsa-mir-296-3p (MIRT038442)
- hsa-mir-93-5p (MIRT048832)
- hsa-mir-30d-5p (MIRT731593)
- hsa-mir-552-3p (MIRT732302)
- hsa-mir-30a-5p (MIRT734664)
- hsa-mir-122-5p (MIRT761347)
- hsa-mir-1295b-5p (MIRT762355)
- hsa-mir-143-5p (MIRT762695)
- hsa-mir-1912 (MIRT763383)
- hsa-mir-3130-5p (MIRT764883)
- hsa-mir-3135b (MIRT764944)
- hsa-mir-3652 (MIRT766305)
- hsa-mir-4430 (MIRT768940)
- hsa-mir-4482-5p (MIRT769592)
- hsa-mir-504-3p (MIRT773067)
- hsa-mir-5591-3p (MIRT774876)
- hsa-mir-564 (MIRT774923)
- hsa-mir-5693 (MIRT775041)
- hsa-mir-5698 (MIRT775162)
- hsa-mir-6499-3p (MIRT776331)
- hsa-mir-6728-3p (MIRT777936)
- hsa-mir-891a-3p (MIRT782621)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIK3R2
- Browse OriGene Inhibitory RNA Products For PIK3R2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3R2
- genomics-online: shRNA clones - Search results for available Pik3r2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PIK3R2
- Addgene plasmids for PIK3R2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIK3R2
- genomics-online: cdna clones - Search results for available Pik3r2 gene related products
- orf clones - Search results for available Pik3r2 gene related products
- Applied Biological Materials Clones for PIK3R2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PIK3R2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PIK3R2 Gene
Localization for PIK3R2 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005942 | phosphatidylinositol 3-kinase complex | IBA,IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PIK3R2 Gene
Pathways & Interactions for PIK3R2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
.92
|
|
| 2 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
.36
|
|
| 3 | IL-2 Pathway |
.59
|
.48
.43
.36
.34
|
| 4 | Apoptotic Pathways in Synovial Fibroblasts |
.74
|
.66
.65
.60
|
| 5 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
Pathways by source for PIK3R2 Gene
10 Sino Biological pathways for PIK3R2 Gene
1 GeneTex pathway for PIK3R2 Gene
39 BioSystems pathways for PIK3R2 Gene
72 Reactome pathways for PIK3R2 Gene
3 PharmGKB pathways for PIK3R2 Gene
86 KEGG pathways for PIK3R2 Gene
63 GeneGo (Thomson Reuters) pathways for PIK3R2 Gene
18 R&D Systems pathways for PIK3R2 Gene
- Adipokines and Insulin Signaling Pathways
- Akt Signaling Pathway
- Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways
9 Tocris pathways for PIK3R2 Gene
128 Qiagen pathways for PIK3R2 Gene
1 Cell Signaling Technology pathway for PIK3R2 Gene
Interacting Proteins for PIK3R2 Gene
Selected Interacting proteins:
O00459-P85B_HUMAN
ENSP00000222254
for PIK3R2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PIK3R2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001678 | cellular glucose homeostasis | ISS | -- |
| GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0008286 | insulin receptor signaling pathway | IBA | -- |
| GO:0010506 | regulation of autophagy | IMP | 23604317 |
Drugs & Compounds for PIK3R2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Isoproterenol | Approved, Investigational | Pharma | Full agonist, Agonist, Target, agonist | 24 | ||
| Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3113 | ||
| Epirubicin | Approved | Pharma | 426 | |||
| Fluorouracil | Approved | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor | 1970 | ||
| Wortmannin | Experimental | Pharma | PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 | 0 |
| 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 |
| 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 |
| Quercetin | Non-selective PI 3-kinase inhibitor | 117-39-5 |
| Wortmannin | Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 | 19545-26-7 |
Drug Products
Transcripts for PIK3R2 Gene
mRNA/cDNA for PIK3R2 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (288) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000222254 4033 bps (uc002nia.3)
- ENST00000426902 3273 bps (uc060von.1)
- ENST00000474310 425 bps (uc060voq.1)
- ENST00000600533 425 bps (uc060vor.1)
- ENST00000464016 588 bps (uc060vos.1)
Unigene Clusters for PIK3R2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PIK3R2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3R2
- genomics-online: gRNA clones - Search results for available Pik3r2 gene related products
- Applied Biological Materials CRISPR for PIK3R2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIK3R2
- GenScript: Design CRISPR guide RNA sequences for PIK3R2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIK3R2
- Browse OriGene Inhibitory RNA Products For PIK3R2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3R2
- genomics-online: shRNA clones - Search results for available Pik3r2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PIK3R2
- Addgene plasmids for PIK3R2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIK3R2
- genomics-online: cdna clones - Search results for available Pik3r2 gene related products
- orf clones - Search results for available Pik3r2 gene related products
- Applied Biological Materials Clones for PIK3R2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PIK3R2 Gene
This gene is overexpressed in Breast (38.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIK3R2 Gene
NURSA nuclear receptor signaling pathways regulating expression of PIK3R2 Gene:
PIK3R2SOURCE GeneReport for Unigene cluster for PIK3R2 Gene:
Hs.371344Evidence 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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for PIK3R2
-
OriGene qPCR primer pairs and template standards for PIK3R2
- genomics-online: primer clones - Search results for available Pik3r2 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PIK3R2 34 33 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| PIK3R2 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | PIK3R2 34 33 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Pik3r2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pik3r2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | PIK3R2 33 |
|
||
| -- 34 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pik3r2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pik3r2 34 33 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | Pi3K21B 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | aap-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PIK3R2: view image
Paralogs for PIK3R2 Gene
Paralogs for PIK3R2 Gene
(4) SIMAP similar genes for PIK3R2 Gene using alignment to 6 proteins:
- P85B_HUMAN
- E9PFP1_HUMAN
- Q05BV6_HUMAN
- Q96CK7_HUMAN
- Q96EV4_HUMAN
- V9GYJ4_HUMAN
Variants for PIK3R2 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1011320 | benign, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,162,237(+) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs10413655 | benign, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,167,213(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1057519801 | likely-pathogenic, Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation | 18,167,251(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs112163556 | likely-benign, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,169,144(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs116321373 | benign, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,169,187(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
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)
Additional Variant Information for PIK3R2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3R2 Gene
Disorders for PIK3R2 Gene
(22) MalaCards diseases for PIK3R2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
|
|
| megalencephaly-capillary malformation-polymicrogyria syndrome |
|
|
| megalencephaly |
|
|
| uterine body mixed cancer |
|
|
| polymicrogyria |
|
|
Search PIK3R2 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for PIK3R2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PIK3R2 Gene
Publications for PIK3R2 Gene
- 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 58
- 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 58
- 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 58
- 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 58
- 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 58
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Sources for PIK3R2 Gene
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