PIK3R2
entrez
5296
canonical
uniprot
O00459
canonical
ensembl
ENSG00000105647
resolver
ensembl
ENSG00000268173
resolver
ensp
ENSP00000222254
resolver
ensp
ENSP00000471914
resolver
ensp
ENSP00000544515
resolver
ensp
ENSP00000544517
resolver
ensp
ENSP00000635768
resolver
ensp
ENSP00000635769
resolver
enst
ENST00000222254
resolver
enst
ENST00000593731
resolver
enst
ENST00000874456
resolver
enst
ENST00000874458
resolver
enst
ENST00000965709
resolver
enst
ENST00000965710
resolver
genesymbol
PIK3R2
resolver
hgnc
HGNC:8980
resolver
uniprot
Q5EAT5
resolver
uniprot
Q9UPH9
resolver
uniprot_entry
P85B_HUMAN
resolver
uniprot_sec
Q5EAT5
resolver
uniprot_sec
Q9UPH9
resolver
amino_acid_sequence
MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGPVALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLSDVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALGPAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPPALPPKPPKAKPASTVLANGGSPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSKIQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVDLINHYRHESLAQYNAKLDTRLLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQELQMKRTAIEAFNETIKIFEEQGQTQEKCSKEYLERFRREGNEKEMQRILLNSERLKSRIAEIHESRTKLEQQLRAQASDNREIDKRMNSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNETEDQYALMEDEDDLPHHEERTWYVGKINRTQAEEMLSGKRDGTFLIRESSQRGCYACSVVVDGDTKHCVIYRTATGFGFAEPYNLYGSLKELVLHYQHASLVQHNDALTVTLAHPVRAPGPGPPPAAR
uniprot
proteins
disease_involvement
DISEASE: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387]: A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. {ECO:0000269|PubMed:22729224, ECO:0000269|PubMed:23745724, ECO:0000269|PubMed:26520804, ECO:0000269|PubMed:26860062}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:O08908, ECO:0000269|PubMed:23604317}.
uniprot
proteins
mass_dalton
81545
uniprot
proteins
mutagenesis
MUTAGEN 651; /note="Q->A: Loss of interaction with FBXL2 and increased half-life; when associated with A-652."; /evidence="ECO:0000269|PubMed:23604317"; MUTAGEN 652; /note="R->A: Loss of interaction with FBXL2 and increased half-life; when associated with A-651."; /evidence="ECO:0000269|PubMed:23604317"; MUTAGEN 655; /note="Y->A: Stabilized interaction with FBXL2 and decreased half-life."; /evidence="ECO:0000269|PubMed:23604317
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in response to signaling from activated receptor-type protein kinases (PubMed:19690332, PubMed:20068231). Dephosphorylated by PTPRJ (PubMed:18348712). Dephosphorylated at Tyr-655 by PTPN13. Phosphorylation of Tyr-655 impairs while its dephosphorylation promotes interaction with FBXL2 and SCF(FBXL2)-mediated polyubiquitination (PubMed:23604317). {ECO:0000269|PubMed:18348712, ECO:0000269|PubMed:23604317}.; PTM: Ubiquitinated. Polyubiquitination by the SCF(FBXL2) complex probably promotes proteasomal degradation of PIK3R2. {ECO:0000303|PubMed:23604317}.
uniprot
proteins
protein_family
PI3K p85 subunit family
uniprot
proteins
pubmed
1314371
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15102829
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18348712
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22729224
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23604317
uniprot
proteins
pubmed
23745724
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26520804
uniprot
proteins
pubmed
26860062
uniprot
proteins
pubmed
28903391
uniprot
proteins
pubmed
9178760
uniprot
proteins
pubmed
9582025
uniprot
proteins
pubmed
9600074
uniprot
proteins
sequence_length
728
uniprot
proteins