PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2)

Gene

• Entrez ID: 5296
• Gene name: Phosphoinositide-3-kinase regulatory subunit 2
• Gene symbol: PIK3R2
• Synonyms: MPPH, MPPH1, P85B, p85, p85-BETA
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs372272045	G>C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587776934	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587777624	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041591	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886041602	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519801	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1131691683	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1212577459	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1418268495	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1555815238	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568636630	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568637223	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, Western blot	18987025
MIRT003894	hsa-miR-126-3p	Western blot, qRT-PCR, Luciferase reporter assay	18663744
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, Western blot, Reporter assay;Western blot	21249429
MIRT003894	hsa-miR-126-3p	qRT-PCR, Western blot	24969300
MIRT003894	hsa-miR-126-3p	Immunohistochemistry, In situ hybridization, qRT-PCR, Western blot	26381870
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	27191494
MIRT007136	hsa-miR-30c-5p	qRT-PCR	23418453
MIRT021712	hsa-miR-133a-3p	Reporter assay	21249429
MIRT038442	hsa-miR-296-3p	CLASH	23622248
MIRT048832	hsa-miR-93-5p	CLASH	23622248
MIRT731593	hsa-miR-30d-5p	LacZ reporter assay	27165190
MIRT732302	hsa-miR-552-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26485640
MIRT734664	hsa-miR-30a-5p	Western blot	27895663
MIRT761347	hsa-miR-122-5p	PAR-CLIP	27292025
MIRT762355	hsa-miR-1295b-5p	PAR-CLIP	27292025
MIRT762695	hsa-miR-143-5p	PAR-CLIP	27292025
MIRT763383	hsa-miR-1912	PAR-CLIP	27292025
MIRT764883	hsa-miR-3130-5p	PAR-CLIP	27292025
MIRT764944	hsa-miR-3135b	PAR-CLIP	27292025
MIRT766305	hsa-miR-3652	PAR-CLIP	27292025
MIRT768940	hsa-miR-4430	PAR-CLIP	27292025
MIRT769592	hsa-miR-4482-5p	PAR-CLIP	27292025
MIRT773067	hsa-miR-504-3p	PAR-CLIP	27292025
MIRT774876	hsa-miR-5591-3p	PAR-CLIP	27292025
MIRT774923	hsa-miR-564	PAR-CLIP	27292025
MIRT775041	hsa-miR-5693	PAR-CLIP	27292025
MIRT775162	hsa-miR-5698	PAR-CLIP	27292025
MIRT776331	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT777936	hsa-miR-6728-3p	PAR-CLIP	27292025
MIRT782621	hsa-miR-891a-3p	PAR-CLIP	27292025

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001678	Process	Cellular glucose homeostasis	ISS
GO:0001784	Function	Phosphotyrosine residue binding	IPI	20624904
GO:0005515	Function	Protein binding	IPI	7537096, 16273093, 16963558, 17500595, 19380743, 20936779, 21516116, 21706016, 22402981, 22810585, 23604317, 23853584, 24189400, 24658140, 24728074, 25416956, 25814554, 28169297, 28514442, 29892012, 31515488, 31980649, 32814053
GO:0005634	Component	Nucleus	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IBA	21873635
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0008286	Process	Insulin receptor signaling pathway	IBA	21873635
GO:0010506	Process	Regulation of autophagy	IMP	23604317
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	IDA	23604317
GO:0015031	Process	Protein transport	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	23604317
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	10627473
GO:0032869	Process	Cellular response to insulin stimulus	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042307	Process	Positive regulation of protein import into nucleus	ISS
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	18694566
GO:0043551	Process	Regulation of phosphatidylinositol 3-kinase activity	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046854	Process	Phosphatidylinositol phosphorylation	IBA	21873635
GO:0046935	Function	1-phosphatidylinositol-3-kinase regulator activity	IBA	21873635
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	TAS
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050900	Process	Leukocyte migration	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS

Other IDs

• MIM: 603157
• HGNC: 8980
• e!Ensembl: ENSG00000105647

Protein

• UniProt ID: O00459
• Protein name: Phosphatidylinositol 3-kinase regulatory subunit beta (PI3-kinase regulatory subunit beta) (PI3K regulatory subunit beta) (PtdIns-3-kinase regulatory subunit beta) (Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta) (PI3-kinase subunit p85-beta) (PtdIns-3-kinase regulatory subunit p85-beta)
• Protein 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).
• PDB: 2KT1, 2XS6, 3MTT, 3O5Z, 6OX7, 6U28
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00620	RhoGAP	125 → 263	RhoGAP domain	Domain
  PF00017	SH2	330 → 405	SH2 domain	Domain
  PF16454	PI3K_P85_iSH2	428 → 596	Phosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain	Domain
  PF00017	SH2	622 → 696	SH2 domain	Domain

• Sequence:

  MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGL
  NERTRQRGDFPGTYVEFLGPVALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSP
  PDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLSDVDQWDTAALADGIKSFLLA
  LPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALG
  PAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPP
  ALPPKPPKAKPASTVLANGGSPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSK
  IQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVDLINHYRHESLAQYNAKLDTR
  LLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQELQMKRTA
  IEAFNETIKIFEEQGQTQEKCSKEYLERFRREGNEKEMQRILLNSERLKSRIAEIHESRT
  KLEQQLRAQASDNREIDKRMNSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNE
  TEDQYALMEDEDDLPHHEERTWYVGKINRTQAEEMLSGKRDGTFLIRESSQRGCYACSVV
  VDGDTKHCVIYRTATGFGFAEPYNLYGSLKELVLHYQHASLVQHNDALTVTLAHPVRAPG
  PGPPPAAR

• Sequence length: 728