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Aliases for PIK3R5 Gene

Aliases for PIK3R5 Gene

  • Phosphoinositide-3-Kinase Regulatory Subunit 5 2 3 5
  • Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Regulatory Subunit 3 4
  • PI3-Kinase P101 Subunit 3 4
  • PtdIns-3-Kinase P101 3 4
  • Protein FOAP-2 3 4
  • P101-PI3K 3 4
  • Phosphoinositide-3-Kinase, Regulatory Subunit 5 2
  • Phosphoinositide 3-Kinase Regulatory Subunit 5 3
  • PtdIns-3-Kinase Regulatory Subunit 4
  • PI3-Kinase Regulatory Subunit 5 4
  • F730038I15Rik 3
  • FOAP-2 3
  • P101 3

External Ids for PIK3R5 Gene

Previous GeneCards Identifiers for PIK3R5 Gene

  • GC17M008724

Summaries for PIK3R5 Gene

Entrez Gene Summary for PIK3R5 Gene

  • Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]

GeneCards Summary for PIK3R5 Gene

PIK3R5 (Phosphoinositide-3-Kinase Regulatory Subunit 5) is a Protein Coding gene. Diseases associated with PIK3R5 include Ataxia-Oculomotor Apraxia 3 and Spinocerebellar Ataxia With Axonal Neuropathy Type 2. Among its related pathways are ERK Signaling and mTOR Pathway. Gene Ontology (GO) annotations related to this gene include G-protein beta/gamma-subunit complex binding and 1-phosphatidylinositol-3-kinase regulator activity. An important paralog of this gene is PIK3R6.

UniProtKB/Swiss-Prot for PIK3R5 Gene

  • Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity).

Tocris Summary for PIK3R5 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 PIK3R5 Gene

Additional gene information for PIK3R5 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3R5 Gene

Genomics for PIK3R5 Gene

GeneHancer (GH) Regulatory Elements for PIK3R5 Gene

Promoters and enhancers for PIK3R5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J008962 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 677.1 +0.5 499 4.6 PKNOX1 RB1 SIN3A BATF KLF5 GLIS2 ZNF207 ZNF143 ATF7 IKZF2 PIK3R5 ENSG00000266389 CTB-41I6.1 SPDYE4 ENSG00000265975 GC17M008877
GH17J008944 Enhancer 1 FANTOM5 ENCODE dbSUPER 71 +20.0 20028 2.3 PKNOX1 IKZF1 USF2 MNT IKZF2 PIK3R5 ENSG00000266389 GC17M008877
GH17J008951 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 40.4 +8.9 8860 11.6 HDGF PKNOX1 STAT5A BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 PIK3R5 SPDYE4 GC17M008877
GH17J008921 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 35.8 +42.2 42241 3.2 HDGF BATF RELA GATA3 ZNF366 EED ATF7 ETV6 IKZF2 RUNX3 PIK3R5 RNF222 NDEL1 GC17M008877
GH17J008920 Enhancer 0.8 FANTOM5 dbSUPER 57.4 +44.8 44760 0.4 HDGF CBFB NR2F1 ZBED1 BMI1 DPF2 RELA ZNF217 JUND IKZF1 PIK3R5 NDEL1 GC17M008877
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIK3R5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIK3R5 gene promoter:
  • AP-4
  • Tal-1beta
  • ITF-2
  • E47
  • PPAR-alpha
  • ZIC2
  • Tal-1
  • Elk-1
  • AML1a

Genomic Locations for PIK3R5 Gene

Genomic Locations for PIK3R5 Gene
86,802 bases
Minus strand
86,797 bases
Minus strand

Genomic View for PIK3R5 Gene

Genes around PIK3R5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3R5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3R5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3R5 Gene

Proteins for PIK3R5 Gene

  • Protein details for PIK3R5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphoinositide 3-kinase regulatory subunit 5
    Protein Accession:
    Secondary Accessions:
    • B0LPH4
    • D3DTS3
    • Q5G936
    • Q5G938
    • Q5G939
    • Q8IZ23
    • Q9Y2Y2

    Protein attributes for PIK3R5 Gene

    880 amino acids
    Molecular mass:
    97348 Da
    Quaternary structure:
    • Heterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with beta-gamma G protein dimers.

    Alternative splice isoforms for PIK3R5 Gene


neXtProt entry for PIK3R5 Gene

Post-translational modifications for PIK3R5 Gene

  • Ubiquitination at isoforms=2429
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIK3R5 Gene

Domains & Families for PIK3R5 Gene

Gene Families for PIK3R5 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PIK3R5 Gene


Suggested Antigen Peptide Sequences for PIK3R5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The heterodimerization region allows the binding to the catalytic subunit.
  • The heterodimerization region allows the binding to the catalytic subunit.
genes like me logo Genes that share domains with PIK3R5: view

Function for PIK3R5 Gene

Molecular function for PIK3R5 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Greatly activated by G gamma proteins.

Phenotypes From GWAS Catalog for PIK3R5 Gene

Gene Ontology (GO) - Molecular Function for PIK3R5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016301 kinase activity IEA --
GO:0031683 G-protein beta/gamma-subunit complex binding ISS --
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS --
GO:0046935 1-phosphatidylinositol-3-kinase regulator activity IBA --
genes like me logo Genes that share ontologies with PIK3R5: view
genes like me logo Genes that share phenotypes with PIK3R5: view

Human Phenotype Ontology for PIK3R5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIK3R5 Gene

MGI Knock Outs for PIK3R5:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PIK3R5 Gene

Localization for PIK3R5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3R5 Gene

Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein. Note=Predominantly localized in the nucleus in absence of PIK3CG/p120. Colocalizes with PIK3CG/p120 in the cytoplasm. Translocated to the plasma membrane in a beta-gamma G protein-dependent manner. {ECO:0000250 UniProtKB:O02696}.

Subcellular locations from

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 PIK3R5 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubule organizing center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIK3R5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with PIK3R5: view

Pathways & Interactions for PIK3R5 Gene

genes like me logo Genes that share pathways with PIK3R5: view

Gene Ontology (GO) - Biological Process for PIK3R5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007186 G-protein coupled receptor signaling pathway ISS,IBA --
GO:0014065 phosphatidylinositol 3-kinase signaling IBA,ISS --
GO:0016310 phosphorylation IEA --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with PIK3R5: view

No data available for SIGNOR curated interactions for PIK3R5 Gene

Drugs & Compounds for PIK3R5 Gene

(35) Drugs for PIK3R5 Gene - From: DGIdb and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Wortmannin Experimental Pharma PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 0
3-Methyladenine Experimental Pharma Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy 0
Quercetin Experimental, Investigational Nutra Antitumor agent, Non-selective PI 3-kinase inhibitor 42
TG100-115 Investigational Pharma PI3Kγ/PI3Kδ inhibitor 0
SF1126 Investigational Pharma inhibitor Kinase Inhibitors 0

(1) Additional Compounds for PIK3R5 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LY 294002 hydrochloride

(5) Tocris Compounds for PIK3R5 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
genes like me logo Genes that share compounds with PIK3R5: view

Transcripts for PIK3R5 Gene

Unigene Clusters for PIK3R5 Gene

Phosphoinositide-3-kinase, regulatory subunit 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3R5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1: -
SP2: - -
SP3: - - -
SP4: -
SP5: -
SP6: -

Relevant External Links for PIK3R5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PIK3R5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIK3R5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIK3R5 Gene

This gene is overexpressed in Whole Blood (x22.8) and Spleen (x4.5).

Protein differential expression in normal tissues from HIPED for PIK3R5 Gene

This gene is overexpressed in Heart (45.3) and CD8 Tcells (23.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PIK3R5 Gene

Protein tissue co-expression partners for PIK3R5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIK3R5 Gene:


SOURCE GeneReport for Unigene cluster for PIK3R5 Gene:


mRNA Expression by UniProt/SwissProt for PIK3R5 Gene:

Tissue specificity: Ubiquitously expressed with high expression in fetal brain compared to adult brain. Abundant expression is observed in cerebellum, cerebral cortex, cerebral meninges, and vermis cerebelli.

Evidence on tissue expression from TISSUES for PIK3R5 Gene

  • Blood(4.4)
  • Spleen(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3R5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
  • esophagus
  • stomach
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with PIK3R5: view

Orthologs for PIK3R5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIK3R5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PIK3R5 34 33
  • 99.36 (n)
(Canis familiaris)
Mammalia PIK3R5 34 33
  • 88.52 (n)
(Bos Taurus)
Mammalia PIK3R5 34 33
  • 87.1 (n)
(Rattus norvegicus)
Mammalia Pik3r5 33
  • 84.75 (n)
(Mus musculus)
Mammalia Pik3r5 16 34 33
  • 84.69 (n)
(Monodelphis domestica)
Mammalia PIK3R5 34
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia PIK3R5 34
  • 68 (a)
(Gallus gallus)
Aves PIK3R5 34 33
  • 68 (n)
-- 34
  • 60 (a)
-- 34
  • 53 (a)
(Anolis carolinensis)
Reptilia PIK3R5 34
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3r5 33
  • 60.9 (n)
Str.19584 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2361 33
(Danio rerio)
Actinopterygii pik3r5 34 33
  • 53.76 (n)
Species where no ortholog for PIK3R5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PIK3R5 Gene

Gene Tree for PIK3R5 (if available)
Gene Tree for PIK3R5 (if available)
Evolutionary constrained regions (ECRs) for PIK3R5: view image

Paralogs for PIK3R5 Gene

Paralogs for PIK3R5 Gene

genes like me logo Genes that share paralogs with PIK3R5: view

Variants for PIK3R5 Gene

Sequence variations from dbSNP and Humsavar for PIK3R5 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs371789171 A colorectal cancer sample 8,911,413(-) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs61761068 pathogenic, Ataxia-oculomotor apraxia 3, Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217] 8,887,116(-) G/A coding_sequence_variant, missense_variant
rs11650737 conflicting-interpretations-of-pathogenicity, not specified 8,888,854(-) T/C 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs16957702 conflicting-interpretations-of-pathogenicity, not specified 8,888,776(-) G/A 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs381309 conflicting-interpretations-of-pathogenicity, not specified 8,888,712(-) A/G 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3R5 Gene

Variant ID Type Subtype PubMed ID
dgv3096n100 CNV gain 25217958
esv2282824 CNV deletion 18987734
esv2658276 CNV deletion 23128226
esv2715621 CNV deletion 23290073
esv2715622 CNV deletion 23290073
esv2715623 CNV deletion 23290073
esv3302889 CNV tandem duplication 20981092
nsv1129589 CNV tandem duplication 24896259
nsv1160448 CNV duplication 26073780
nsv1970 CNV deletion 18451855
nsv510696 CNV deletion 20534489
nsv827881 CNV loss 20364138
nsv833354 CNV loss 17160897

Variation tolerance for PIK3R5 Gene

Residual Variation Intolerance Score: 59.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIK3R5 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3R5 Gene

Disorders for PIK3R5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PIK3R5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ataxia-oculomotor apraxia 3
  • aoa3
spinocerebellar ataxia with axonal neuropathy type 2
  • spinocerebellar ataxia, autosomal recessive 1
  • dyspraxia
spinocerebellar ataxia, autosomal recessive 1
  • scar1
supraglottis cancer
  • ca larynx - supraglottis
- elite association - COSMIC cancer census association via MalaCards


  • Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217]: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. {ECO:0000269 PubMed:22065524}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PIK3R5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PIK3R5: view

No data available for Genatlas for PIK3R5 Gene

Publications for PIK3R5 Gene

  1. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. (PMID: 22065524) Al Tassan N … Bohlega S (Human mutation 2012) 3 4 58
  2. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PMID: 20056178) Segat L … Crovella S (Vaccine 2010) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58
  5. p84, a new Gbetagamma-activated regulatory subunit of the type IB phosphoinositide 3-kinase p110gamma. (PMID: 15797027) Suire S … Stephens L (Current biology : CB 2005) 3 4 58

Products for PIK3R5 Gene

Sources for PIK3R5 Gene

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