Manteia

ENSG00000105647

Homo sapiens

Features

Gene ID:	ENSG00000105647

Biological name :	PIK3R2

Synonyms :	O00459 / phosphoinositide-3-kinase regulatory subunit 2 / PIK3R2

Possible biological names infered from orthology :

Species:	Homo sapiens

Chr. number:	19
Strand:	1
Band:	p13.11
Gene start:	18153118
Gene end:	18170540

Corresponding Affymetrix probe sets:	1568629_s_at (Human Genome U133 Plus 2.0 Array) 207105_s_at (Human Genome U133 Plus 2.0 Array) 229392_s_at (Human Genome U133 Plus 2.0 Array)

Cross references:	Ensembl peptide - ENSP00000476825 Ensembl peptide - ENSP00000484714 Ensembl peptide - ENSP00000477864 Ensembl peptide - ENSP00000222254 Ensembl peptide - ENSP00000395636 NCBI entrez gene - 5296 See in Manteia. OMIM - 603157 RefSeq - NM_005027 RefSeq Peptide - NP_005018 swissprot - E9PFP1 swissprot - O00459 swissprot - V9GYJ4 Ensembl - ENSG00000105647

Related genetic diseases (OMIM):	603387 - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387

See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
pik3r2	ENSDARG00000018060	Danio rerio
	ENSGALG00000003428	Gallus gallus
O08908	ENSMUSG00000031834	Mus musculus

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
AC007192.1	ENSG00000268173	100
P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1	ENSG00000145675	58
AL358075.4	ENSG00000278139	45
PIK3R3 / Q92569 / phosphoinositide-3-kinase regulatory subunit 3	ENSG00000117461	43

Protein motifs (from Interpro)

Interpro ID	Name
IPR000198	Rho GTPase-activating protein domain
IPR000980	SH2 domain
IPR001452	SH3 domain
IPR001720	PI3K p85/p55 subunit
IPR008936	Rho GTPase activation protein
IPR032498	PI3K p85 subunit, inter-SH2 domain
IPR035020	PI3K p85 subunit, C-terminal SH2 domain
IPR035022	PI3K p85 subunit, N-terminal SH2 domain
IPR035586	Phosphatidylinositol 3-kinase regulatory subunit beta, SH3 domain
IPR036028	SH3-like domain superfamily
IPR036860	SH2 domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001678	cellular glucose homeostasis	ISS
biological_process	GO:0006661	phosphatidylinositol biosynthetic process	TAS
biological_process	GO:0007165	signal transduction	IEA
biological_process	GO:0008286	insulin receptor signaling pathway	IBA
biological_process	GO:0010506	regulation of autophagy	IMP
biological_process	GO:0014065	phosphatidylinositol 3-kinase signaling	IDA
biological_process	GO:0015031	protein transport	IEA
biological_process	GO:0032869	cellular response to insulin stimulus	ISS
biological_process	GO:0034976	response to endoplasmic reticulum stress	ISS
biological_process	GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA
biological_process	GO:0038095	Fc-epsilon receptor signaling pathway	TAS
biological_process	GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
biological_process	GO:0042993	obsolete positive regulation of transcription factor import into nucleus	ISS
biological_process	GO:0043409	negative regulation of MAPK cascade	IMP
biological_process	GO:0043547	positive regulation of GTPase activity	IEA
biological_process	GO:0043551	regulation of phosphatidylinositol 3-kinase activity	IEA
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
biological_process	GO:0046854	phosphatidylinositol phosphorylation	IBA
biological_process	GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS
biological_process	GO:0048015	phosphatidylinositol-mediated signaling	TAS
biological_process	GO:0050852	T cell receptor signaling pathway	TAS
biological_process	GO:0050900	leukocyte migration	TAS
biological_process	GO:0051056	regulation of small GTPase mediated signal transduction	TAS
biological_process	GO:0051897	positive regulation of protein kinase B signaling	TAS
biological_process	GO:2001275	positive regulation of glucose import in response to insulin stimulus	ISS
cellular_component	GO:0005634	nucleus	ISS
cellular_component	GO:0005829	cytosol	TAS
cellular_component	GO:0005942	phosphatidylinositol 3-kinase complex	IEA
molecular_function	GO:0001784	phosphotyrosine residue binding	IPI
molecular_function	GO:0005096	GTPase activator activity	TAS
molecular_function	GO:0005515	protein binding	IEA
molecular_function	GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS
molecular_function	GO:0019903	protein phosphatase binding	IPI
molecular_function	GO:0030971	receptor tyrosine kinase binding	IPI
molecular_function	GO:0035014	phosphatidylinositol 3-kinase regulator activity	IEA
molecular_function	GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS
molecular_function	GO:0046935	1-phosphatidylinositol-3-kinase regulator activity	IBA
molecular_function	GO:0046982	protein heterodimerization activity	ISS

Pathways (from Reactome)

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
HP:0000006	Autosomal dominant inheritance	"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]	Show
HP:0000160	Microstomia	"The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]	Show
HP:0000238	Hydrocephalus		Show
HP:0000256	Macrocephaly	"The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]	Show
HP:0000316	Hypertelorism		Show
HP:0000348	High forehead	"An abnormally increased height of the forehead." [HPO:curators]	Show
HP:0000506	Telecanthus	"An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators]	Show
HP:0000508	Ptosis	"Drooping of the eyelid." [HPO:curators]	Show
HP:0000618	Blindness		Show
HP:0000637	Wide palpebral fissures		Show
HP:0001090	Large eyes		Show
HP:0001162	Postaxial polydactyly (hands)	"Supernumerary digits located at the ulnar side of the hand." [HPO:curators]	Show
HP:0001250	Seizures	"Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]	Show
HP:0001263	Developmental retardation	"A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]	Show
HP:0001302	Pachygyria	"A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators]	Show
HP:0001355	Megalencephaly	"The presence of an unusually large, and usually malfunctioning brain." [HPO:curators]	Show
HP:0001629	Ventricular septal defect	"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]	Show
HP:0001631	Atrial septal defect	"Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]	Show
HP:0001653	Mitral regurgitation	"An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]	Show
HP:0002007	Frontal bossing	"The presence of an unusually prominent forehead." [HPO:curators]	Show
HP:0002079	Hypoplasia of the corpus callosum	"Underdevelopment of the corpus callosum." [HPO:curators]	Show
HP:0002126	Polymicrogyria	"A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]	Show
HP:0002187	Mental retardation, profound	"Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators]	Show
HP:0002808	Kyphosis		Show
HP:0002943	Thoracic scoliosis		Show
HP:0003202	Amyotrophy	"The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]	Show
HP:0005105	Abnormal nasal morphology		Show
HP:0005280	Depressed nasal root and bridge		Show
HP:0006380	Knee flexion deformities		Show
HP:0007074	Thick corpus callosum		Show
HP:0008936	Muscular hypotonia of the trunk	"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators]	Show
HP:0010775	Vascular ring	"A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails." [HPO:probinson]	Show
HP:0100259	Postaxial polydactyly	"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson]	Show
HP:0100542	Abnormal localization of kidneys		Show

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSG00000010810	FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase	/ reaction / complex
ENSG00000205809	KLRC2 / P26717 / killer cell lectin like receptor C2	/ complex / reaction
ENSG00000213809	KLRK1 / P26718 / killer cell lectin like receptor K1	/ complex / reaction
ENSG00000185950	IRS2 / Q9Y4H2 / insulin receptor substrate 2	/ reaction / complex
ENSG00000033327	GAB2 / Q9UQC2 / GRB2 associated binding protein 2	/ reaction / complex
ENSG00000134259	NGF / P01138 / nerve growth factor	/ reaction / complex
ENSG00000100311	PDGFB / P01127 / platelet derived growth factor subunit B	/ reaction / complex
ENSG00000134853	P16234 / PDGFRA / platelet derived growth factor receptor alpha	/ complex / reaction
ENSG00000113721	P09619 / PDGFRB / platelet derived growth factor receptor beta	/ reaction / complex
ENSG00000163519	TRAT1 / Q6PIZ9 / T cell receptor associated transmembrane adaptor 1	/ complex / reaction
ENSG00000011600	O43914 / TYROBP / TYRO protein tyrosine kinase binding protein	/ complex / reaction
ENSG00000166710	B2M / P61769 / beta-2-microglobulin	/ reaction / complex
ENSG00000095970	TREM2 / Q9NZC2 / triggering receptor expressed on myeloid cells 2	/ complex / reaction
ENSG00000182866	LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase	/ reaction / complex
ENSG00000179295	PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11	/ complex
ENSG00000115904	SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1	/ reaction / complex
ENSG00000169047	IRS1 / P35568 / insulin receptor substrate 1	/ complex / reaction
ENSG00000177885	GRB2 / P62993 / growth factor receptor bound protein 2	/ reaction / complex
ENSG00000198400	NTRK1 / P04629 / neurotrophic receptor tyrosine kinase 1	/ complex / reaction
ENSG00000109458	GAB1 / Q13480 / GRB2 associated binding protein 1	/ complex
ENSG00000197461	PDGFA / P04085 / platelet derived growth factor subunit A	/ complex / reaction
ENSG00000160691	SHC1 / P29353 / SHC adaptor protein 1	/ reaction / complex
ENSG00000166225	FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2	/ complex
ENSG00000165025	SYK / P43405 / spleen associated tyrosine kinase	/ complex / reaction
ENSG00000134539	KLRD1 / Q13241 / killer cell lectin like receptor D1	/ reaction / complex
ENSG00000086730	LAT2 / Q9GZY6 / linker for activation of T cells family member 2	/ reaction / complex
ENSG00000112715	VEGFA / P15692 / vascular endothelial growth factor A	/ reaction / complex
ENSG00000128052	KDR / P35968 / kinase insert domain receptor	/ reaction / complex
ENSG00000121879	P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	/ complex
ENSG00000167601	AXL / P30530 / AXL receptor tyrosine kinase	/ reaction / complex
ENSG00000051382	P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta	/ complex
ENSG00000160654	CD3G / P09693 / CD3g molecule	/ complex / reaction
ENSG00000143226	FCGR2A / P12318 / Fc fragment of IgG receptor IIa	/ complex / reaction
ENSG00000154188	ANGPT1 / Q15389 / angiopoietin 1	/ reaction / complex
ENSG00000198821	CD247 / P20963 / CD247 molecule	/ reaction / complex
ENSG00000161270	NPHS1 / O60500 / NPHS1, nephrin	/ complex / reaction
ENSG00000183853	Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1	/ reaction / complex
ENSG00000197122	SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase	/ reaction / complex
ENSG00000198087	CD2AP / Q9Y5K6 / CD2 associated protein	/ reaction / complex
ENSG00000171608	O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	/ complex
ENSG00000203747	FCGR3A / P08637 / Fc fragment of IgG receptor IIIa	/ complex / reaction
ENSG00000150337	FCGR1A / P12314 / Fc fragment of IgG receptor Ia	/ complex / reaction
ENSG00000027869	Q9NP31 / SH2D2A / SH2 domain containing 2A	/ reaction / complex
ENSG00000211893	IGHG2 / P01859 / immunoglobulin heavy constant gamma 2 (G2m marker)	/ complex / reaction
ENSG00000120156	TEK / Q02763 / TEK receptor tyrosine kinase	/ reaction / complex
ENSG00000211896	IGHG1 / P01857 / immunoglobulin heavy constant gamma 1 (G1m marker)	/ complex / reaction
ENSG00000211892	IGHG4 / P01861 / immunoglobulin heavy constant gamma 4 (G4m marker)	/ reaction / complex

1 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr