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 10... See more...

Aliases for PIK3R5 Gene

Aliases for PIK3R5 Gene

  • Phosphoinositide-3-Kinase Regulatory Subunit 5 2 3 5
  • P101-PI3K 2 3 4
  • Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Regulatory Subunit 3 4
  • Phosphoinositide 3-Kinase Regulatory Subunit 5 3 4
  • PI3-Kinase P101 Subunit 3 4
  • PtdIns-3-Kinase P101 3 4
  • Protein FOAP-2 3 4
  • P101 2 3
  • Phosphoinositide-3-Kinase, Regulatory Subunit 5 2
  • PtdIns-3-Kinase Regulatory Subunit 4
  • PI3-Kinase Regulatory Subunit 5 4
  • F730038I15Rik 3
  • FOAP-2 3
  • PIK3R5 5

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 Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia. Among its related pathways are NGF Pathway and Guidance Cues and Growth Cone Motility. 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 Summary 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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIK3R5 Gene

Genomics for PIK3R5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIK3R5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J008951 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 640.5 +6.4 6390 16.6 SP1 ZBTB33 POLR2A BACH1 LARP7 JUND ZNF143 RELA PATZ1 SMAD5 PIK3R5 SPDYE4 ENSG00000265975 CTB-41I6.1 ENSG00000266389 MN297415 lnc-PIK3R6-2 piR-61945-195 PIK3R6
GH17J008944 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 71 +20.0 20028 2.3 IKZF2 PKNOX1 MNT IKZF1 USF2 PIK3R5 ENSG00000266389 piR-61945-195 lnc-PIK3R6-2 PIK3R6
GH17J008922 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 35.8 +42.1 42128 3 RELA TCF12 IKZF2 EED DPF2 RELB RUNX3 CBFB BCL11A ARNT piR-38736-009 PIK3R5 RNF222 NDEL1 HSALNG0114474 lnc-PIK3R6-2 PIK3R6
GH17J008920 Enhancer 0.8 FANTOM5 dbSUPER 57.4 +44.8 44760 0.4 JUND RELA IKZF2 ARID3A DPF2 RELB CBFB ARNT HDGF IKZF1 PIK3R5 NDEL1 piR-38736-009 HSALNG0114474 lnc-PIK3R6-2 PIK3R6
GH17J008897 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 22.4 +66.0 65968 4.7 SP1 CTCF LEF1 POLR2A RELA TCF12 IKZF2 TRIM22 PKNOX1 EED PIK3R5 NDEL1 HSALNG0114474 piR-38736-009 PIK3R6
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIK3R5

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

Genomic Locations for PIK3R5 Gene

Genomic Locations for PIK3R5 Gene
chr17:8,878,911-8,965,712
(GRCh38/hg38)
Size:
86,802 bases
Orientation:
Minus strand
chr17:8,782,233-8,869,029
(GRCh37/hg19)
Size:
86,797 bases
Orientation:
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:
    Q8WYR1-PI3R5_HUMAN
    Recommended name:
    Phosphoinositide 3-kinase regulatory subunit 5
    Protein Accession:
    Q8WYR1
    Secondary Accessions:
    • B0LPH4
    • D3DTS3
    • Q5G936
    • Q5G938
    • Q5G939
    • Q8IZ23
    • Q9Y2Y2

    Protein attributes for PIK3R5 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3R5 Gene

Post-translational modifications for PIK3R5 Gene

  • Ubiquitination at Lys429
  • 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIK3R5 Gene

GenScript: Design optimal peptide antigens:
  • p101-PI3K (PI3R5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WYR1

UniProtKB/Swiss-Prot:

PI3R5_HUMAN :
  • The heterodimerization region allows the binding to the catalytic subunit.
Domain:
  • 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:0046935 1-phosphatidylinositol-3-kinase regulator activity IBA 21873635
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

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 PIK3R5 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 4
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (3)
  • Cytosol (3)
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:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005942 phosphatidylinositol 3-kinase complex IBA 21873635
genes like me logo Genes that share ontologies with PIK3R5: view

Pathways & Interactions for PIK3R5 Gene

PathCards logo

SuperPathways for PIK3R5 Gene

SuperPathway Contained pathways
1 IL-2 Pathway
.59
.59
.54
.51
.49
.49
.48
.47
.43
.36
.34
2 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.66
.65
.64
.60
3 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
4 ERK Signaling
.61
.61
.58
.51
.49
5 TCR Signaling (Qiagen)
.68
.68
.54
.49
.39
genes like me logo Genes that share pathways with PIK3R5: view

Pathways by source for PIK3R5 Gene

11 GeneGo (Thomson Reuters) pathways for PIK3R5 Gene
  • Development A1 receptor signaling
  • Development A3 receptor signaling
  • Development Beta-adrenergic receptors regulation of ERK
  • Development EDNRB signaling
  • G-protein signaling G-Protein beta/gamma signaling cascades
128 Qiagen pathways for PIK3R5 Gene
  • 14-3-3 Induced Apoptosis
  • 14-3-3 Induced Intracellular Signaling
  • Activation of PKC through GPCR
  • Akt Signaling
  • Aldosterone Signaling in Epithelial Cells
1 Cell Signaling Technology pathway for PIK3R5 Gene

Interacting Proteins for PIK3R5 Gene

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 --
GO:0014065 phosphatidylinositol 3-kinase signaling ISS --
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling TAS --
GO:0016310 phosphorylation IEA --
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: ApexBio, 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 Pharma Antitumor agent, Non-selective PI 3-kinase inhibitor 54
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
934389-88-5

(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

(13) ApexBio Compounds for PIK3R5 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
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 PIK3R5: view

Drug Products

Transcripts for PIK3R5 Gene

mRNA/cDNA for PIK3R5 Gene

6 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3R5

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: -
SP7:
SP8:
SP9:

Relevant External Links for PIK3R5 Gene

GeneLoc Exon Structure for
PIK3R5

Expression for PIK3R5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIK3R5

SOURCE GeneReport for Unigene cluster for PIK3R5 Gene:

Hs.278901

mRNA Expression by UniProt/SwissProt for PIK3R5 Gene:

Q8WYR1-PI3R5_HUMAN
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(4.5)
  • Spleen(4.5)
  • Bone marrow(2.6)
  • Intestine(2.3)
  • Lymph node(2.3)
  • Kidney(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia PIK3R5 30 31
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIK3R5 30 31
  • 88.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PIK3R5 30 31
  • 87.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pik3r5 30
  • 84.75 (n)
Mouse
(Mus musculus)
Mammalia Pik3r5 30 17 31
  • 84.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIK3R5 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PIK3R5 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PIK3R5 30 31
  • 68 (n)
OneToMany
-- 31
  • 60 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia PIK3R5 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pik3r5 30
  • 60.9 (n)
Str.19584 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.2361 30
Zebrafish
(Danio rerio)
Actinopterygii pik3r5 30 31
  • 53.76 (n)
OneToOne
Species where no ortholog for PIK3R5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for PIK3R5 (if available)
TreeFam:
Gene Tree for PIK3R5 (if available)
Aminode:
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIK3R5 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
713209 Benign: not provided 8,889,179(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
715692 Benign: not provided 8,887,210(-) G/A SYNONYMOUS_VARIANT
717559 Benign: not provided 8,890,798(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
746553 Likely Benign: not provided 8,881,831(-) G/A SYNONYMOUS_VARIANT
755865 Likely Benign: not provided 8,888,752(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PIK3R5 Gene

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)
PIK3R5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3R5

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

Disorders for PIK3R5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PIK3R5 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PI3R5_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  2. 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 41
  3. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PMID: 20056178) Segat L … Crovella S (Vaccine 2010) 3 41
  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 41
  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

Products for PIK3R5 Gene

  • Signalway Proteins for PIK3R5

Sources for PIK3R5 Gene