PIK3R5 (phosphoinositide-3-kinase regulatory subunit 5)

Gene

• Entrez ID: 23533
• Gene name: Phosphoinositide-3-kinase regulatory subunit 5
• Gene symbol: PIK3R5
• Synonyms (NCBI Gene): F730038I15Rik, FOAP-2, P101-PI3K, p101
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: 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 ar

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IBA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IEA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	EXP	10358071
GO:0005944	Component	Phosphatidylinositol 3-kinase complex, class IB	IEA
GO:0005944	Component	Phosphatidylinositol 3-kinase complex, class IB	ISS
GO:0006955	Process	Immune response	NAS	31480354
GO:0007186	Process	G protein-coupled receptor signaling pathway	EXP	10358071
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	ISS
GO:0034451	Component	Centriolar satellite	IDA
GO:0043406	Process	Positive regulation of MAP kinase activity	ISS
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046935	Function	1-phosphatidylinositol-3-kinase regulator activity	IBA
GO:0046935	Function	1-phosphatidylinositol-3-kinase regulator activity	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS

Other IDs

• MIM: 611317
• HGNC: 30035
• e!Ensembl: ENSG00000141506

Protein

• UniProt ID: Q8WYR1
• Protein name: Phosphoinositide 3-kinase regulatory subunit 5 (PI3-kinase regulatory subunit 5) (PI3-kinase p101 subunit) (Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit) (PtdIns-3-kinase regulatory subunit) (Protein FOAP-2) (PtdIns-3-kinase p101) (p1
• Protein 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). {ECO:0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10486	PI3K_1B_p101	6 → 880	Phosphoinositide 3-kinase gamma adapter protein p101 subunit	Family

• Tissue specificity: 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. {ECO:0000269|PubMed:15797027, ECO:0000269|PubM
• Sequence:

  MQPGATTCTEDRIQHALERCLHGLSLSRRSTSWSAGLCLNCWSLQELVSRDPGHFLILLE
  QILQKTREVQEKGTYDLLTPLALLFYSTVLCTPHFPPDSDLLLKAASTYHRFLTWPVPYC
  SICQELLTFIDAELKAPGISYQRLVRAEQGLPIRSHRSSTVTVLLLNPVEVQAEFLAVAN
  KLSTPGHSPHSAYTTLLLHAFQATFGAHCDVPGLHCRLQAKTLAELEDIFTETAEAQELA
  SGIGDAAEARRWLRTKLQAVGEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDSFDI
  LQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGHCAERDSLLSTSSLASHDSTLS
  LASSQASGPALSRHLLTSFVSGLSDGMDSGYVEDSEESSSEWPWRRGSQERRGHRRPGQK
  FIRIYKLFKSTSQLVLRRDSRSLEGSSDTALPLRRAGSLCSPLDEPVSPPSRAQRSRSLP
  QPKLGTQLPSWLLAPASRPQRRRPFLSGDEDPKASTLRVVVFGSDRISGKVARAYSNLRR
  LENNRPLLTRFFKLQFFYVPVKRSHGTSPGACPPPRSQTPSPPTDSPRHASPGELGTTPW
  EESTNDISHYLGMLDPWYERNVLGLMHLPPEVLCQQSLKAEAQALEGSPTQLPILADMLL
  YYCRFAARPVLLQVYQTELTFITGEKTTEIFIHSLELGHSAATRAIKASGPGSKRLGIDG
  DREAVPLTLQIIYSKGAISGRSRWSNLEKVCTSVNLNKACRKQEELDSSMEALTLNLTEV
  VKRQNSKSKKGFNQISTSQIKVDKVQIIGSNSCPFAVCLDQDERKILQSVVRCEVSPCYK
  PEKSDLSSPPQTPPDLPAQAAPDLCSLLCLPIMTFSGALP

• Sequence length: 880

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Ataxia with oculomotor apraxia type 3	Uncertain significance; Benign; Conflicting classifications of pathogenicity; not provided	ClinVar ClinGen, ClinVar	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATAXIA-OCULOMOTOR APRAXIA 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIK3R5-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arteriosclerosis	Arteriosclerosis	BEFREE	28087520		★☆☆☆☆ Found in Text Mining only
ATAXIA-OCULOMOTOR APRAXIA 3	Ataxia-Oculomotor Apraxia	UNIPROT_DG	22065524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-OCULOMOTOR APRAXIA 3	Ataxia-Oculomotor Apraxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-OCULOMOTOR APRAXIA 3	Ataxia-Oculomotor Apraxia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-OCULOMOTOR APRAXIA 3	Ataxia-Oculomotor Apraxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	28087520		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28123587		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21996737		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26222778	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28934129, 32596376	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37909603	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	34775477	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34187569	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21996737		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22912864	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28123587		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	BEFREE	22065524		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	BEFREE	22065524		★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	37909603	Associate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia with axonal neuropathy type 2	Spinocerebellar Ataxia, With Axonal Neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	Spinocerebellar Ataxia	ORPHANET_DG	22065524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25374236	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	17486067		★☆☆☆☆ Found in Text Mining only