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Aliases for ENSG00000268173 Gene

Aliases for ENSG00000268173 Gene

  • Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Beta 4
  • Phosphatidylinositol 3-Kinase Regulatory Subunit Beta 5
  • PtdIns-3-Kinase Regulatory Subunit P85-Beta 4
  • PtdIns-3-Kinase Regulatory Subunit Beta 4
  • PI3-Kinase Regulatory Subunit Beta 4
  • PI3K Regulatory Subunit Beta 4
  • PI3-Kinase Subunit P85-Beta 4
  • AC007192.4 5
  • PIK3R2 4

External Ids for ENSG00000268173 Gene

Previous GeneCards Identifiers for ENSG00000268173 Gene

  • GC19P018264
  • GC19P018377
  • GC19P018157
  • GC19P018337

Summaries for ENSG00000268173 Gene

GeneCards Summary for ENSG00000268173 Gene

ENSG00000268173 is a Protein Coding gene. Diseases associated with ENSG00000268173 include Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 and Megalencephaly. An important paralog of this gene is PIK3R2.

UniProtKB/Swiss-Prot for ENSG00000268173 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENSG00000268173 Gene

Genomics for ENSG00000268173 Gene

Regulatory Elements for ENSG00000268173 Gene


Promoters for ENSG00000268173 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ENSG00000268173 Gene

Chromosome:
19
Start:
18,153,158 bp from pter
End:
18,178,117 bp from pter
Size:
24,960 bases
Orientation:
Plus strand

Genomic View for ENSG00000268173 Gene

Genes around ENSG00000268173 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000268173 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000268173 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000268173 Gene

Proteins for ENSG00000268173 Gene

  • Protein details for ENSG00000268173 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 ENSG00000268173 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).
    • 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 ENSG00000268173 Gene

neXtProt entry for ENSG00000268173 Gene

Post-translational modifications for ENSG00000268173 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 ENSG00000268173 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for ENSG00000268173 Gene

Domains & Families for ENSG00000268173 Gene

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.
  • Contains 1 Rho-GAP domain.
  • Contains 2 SH2 domains.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the PI3K p85 subunit family.
genes like me logo Genes that share domains with ENSG00000268173: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for ENSG00000268173 Gene

Function for ENSG00000268173 Gene

Molecular function for ENSG00000268173 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).

Gene Ontology (GO) - Molecular Function for ENSG00000268173 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI --
GO:0016303 1-phosphatidylinositol-3-kinase activity TAS --
GO:0019903 protein phosphatase binding IPI --
GO:0030971 receptor tyrosine kinase binding IPI --
genes like me logo Genes that share ontologies with ENSG00000268173: view

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000268173 Gene

Localization for ENSG00000268173 Gene

Gene Ontology (GO) - Cellular Components for ENSG00000268173 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005829 cytosol TAS --
GO:0005942 phosphatidylinositol 3-kinase complex IBA --
genes like me logo Genes that share ontologies with ENSG00000268173: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for ENSG00000268173 Gene

Pathways & Interactions for ENSG00000268173 Gene

SuperPathways for ENSG00000268173 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENSG00000268173 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0008286 insulin receptor signaling pathway IBA --
GO:0010506 regulation of autophagy IMP --
GO:0014065 phosphatidylinositol 3-kinase signaling IDA --
GO:0014066 regulation of phosphatidylinositol 3-kinase signaling TAS --
genes like me logo Genes that share ontologies with ENSG00000268173: view

No data available for Pathways by source and SIGNOR curated interactions for ENSG00000268173 Gene

Drugs & Compounds for ENSG00000268173 Gene

No Compound Related Data Available

Transcripts for ENSG00000268173 Gene

mRNA/cDNA for ENSG00000268173 Gene

(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000268173 Gene

No ASD Table

Relevant External Links for ENSG00000268173 Gene

GeneLoc Exon Structure for
ENSG00000268173

Expression for ENSG00000268173 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ENSG00000268173 Gene

Orthologs for ENSG00000268173 Gene

This gene was present in the common ancestor of animals.

Orthologs for ENSG00000268173 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIK3R2 35
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 97 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 67 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pik3r2 35
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PIK3R2 35
  • 100 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 76 (a)
ManyToMany
-- 35
  • 70 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii pik3r2 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pi3K21B 35
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aap-1 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToMany
Species where no ortholog for ENSG00000268173 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ENSG00000268173 Gene

ENSEMBL:
Gene Tree for ENSG00000268173 (if available)
TreeFam:
Gene Tree for ENSG00000268173 (if available)

Paralogs for ENSG00000268173 Gene

Paralogs for ENSG00000268173 Gene

genes like me logo Genes that share paralogs with ENSG00000268173: view

Variants for ENSG00000268173 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Relevant External Links for ENSG00000268173 Gene

Disorders for ENSG00000268173 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ENSG00000268173 Gene - From: GeneCards

Disorder Aliases PubMed IDs
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
  • megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
megalencephaly
  • macrencephaly
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
  • mpph syndrome
- 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.
genes like me logo Genes that share disorders with ENSG00000268173: view

No data available for Genatlas and External Links for ENSG00000268173 Gene

Publications for ENSG00000268173 Gene

  1. De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. (PMID: 26860062) Terrone G. … Reymond A. (Eur. J. Hum. Genet. 2016) 4 65
  2. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 65
  3. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. (PMID: 26520804) Mirzaa G.M. … Guerrini R. (Lancet Neurol 2015) 4 65
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 65
  5. FBXL2- and PTPL1-mediated degradation of p110-free p85I^ regulatory subunit controls the PI(3)K signallingA cascade. (PMID: 23604317) Kuchay S. … Pagano M. (Nat. Cell Biol. 2013) 4 65

Products for ENSG00000268173 Gene

Sources for ENSG00000268173 Gene

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