Human Gene PIK3R2 (ENST00000222254.13_4) from GENCODE V47lift37
  Description: phosphoinositide-3-kinase regulatory subunit 2, transcript variant 2 (from RefSeq NR_073517.2)
Gencode Transcript: ENST00000222254.13_4
Gencode Gene: ENSG00000105647.20_16
Transcript (Including UTRs)
   Position: hg19 chr19:18,263,973-18,281,342 Size: 17,370 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr19:18,266,690-18,280,104 Size: 13,415 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:18,263,973-18,281,342)mRNA (may differ from genome)Protein (728 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: P85B_HUMAN
DESCRIPTION: RecName: Full=Phosphatidylinositol 3-kinase regulatory subunit beta; Short=PI3-kinase regulatory subunit beta; Short=PI3K regulatory subunit beta; Short=PtdIns-3-kinase regulatory subunit beta; AltName: Full=Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta; Short=PI3-kinase subunit p85-beta; Short=PtdIns-3-kinase regulatory subunit p85-beta;
FUNCTION: 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.
SUBUNIT: Heterodimer of a regulatory subunit PIK3R2 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD). Interacts with AXL. Interacts with FLT1 (tyrosine-phosphorylated) and FLT4 (tyrosine- phosphorylated). Interacts with NYAP1, NYAP2 and MYO16.
INTERACTION: P62993:GRB2; NbExp=4; IntAct=EBI-346930, EBI-401755; P42338:PIK3CB; NbExp=3; IntAct=EBI-346930, EBI-2609540;
PTM: Phosphorylated in response to signaling from activated receptor-type protein kinases. Dephosphorylated by PTPRJ.
SIMILARITY: Belongs to the PI3K p85 subunit family.
SIMILARITY: Contains 1 Rho-GAP domain.
SIMILARITY: Contains 2 SH2 domains.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: PIK3R2
Diseases sorted by gene-association score: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1* (1331), mpph syndrome* (350), megalencephaly (19), uterine body mixed cancer (19), polymicrogyria (15), physical disorder (14), hydrocephalus (14), thymus cancer (12), cerebral degeneration (11), proteus syndrome, somatic (11), uterine corpus cancer (11), hantavirus pulmonary syndrome (9), chromosome 2q35 duplication syndrome (8), mitral valve insufficiency (8), erythrocytosis, somatic (7), bone development disease (7), leopard syndrome (6), gliosarcoma (4), endometrial cancer (3), female reproductive organ cancer (2), colorectal cancer (1), reproductive organ cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -266.40555-0.480 Picture PostScript Text
3' UTR -465.201238-0.376 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001720 - PI3kinase_P85
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom
IPR000980 - SH2
IPR001452 - SH3_domain

Pfam Domains:
PF00017 - SH2 domain
PF00620 - RhoGAP domain
PF16454 - Phosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain

SCOP Domains:
48350 - GTPase activation domain, GAP
50044 - SH3-domain
55550 - SH2 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KT1 - NMR MuPIT 2XS6 - X-ray MuPIT 3MTT - X-ray MuPIT 3O5Z - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O00459
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001784 phosphotyrosine binding
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0016303 1-phosphatidylinositol-3-kinase activity
GO:0019903 protein phosphatase binding
GO:0030971 receptor tyrosine kinase binding
GO:0035014 phosphatidylinositol 3-kinase regulator activity
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity
GO:0046935 1-phosphatidylinositol-3-kinase regulator activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001678 cellular glucose homeostasis
GO:0007165 signal transduction
GO:0008286 insulin receptor signaling pathway
GO:0010506 regulation of autophagy
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0015031 protein transport
GO:0032869 cellular response to insulin stimulus
GO:0034976 response to endoplasmic reticulum stress
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0042307 positive regulation of protein import into nucleus
GO:0043409 negative regulation of MAPK cascade
GO:0043547 positive regulation of GTPase activity
GO:0043551 regulation of phosphatidylinositol 3-kinase activity
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046854 phosphatidylinositol phosphorylation
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0050852 T cell receptor signaling pathway
GO:0050900 leukocyte migration
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051897 positive regulation of protein kinase B signaling
GO:2001275 positive regulation of glucose import in response to insulin stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005942 phosphatidylinositol 3-kinase complex


-  Descriptions from all associated GenBank mRNAs
  LF208137 - JP 2014500723-A/15640: Polycomb-Associated Non-Coding RNAs.
BC063240 - Homo sapiens cDNA clone IMAGE:4837855, **** WARNING: chimeric clone ****.
BC070082 - Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta), mRNA (cDNA clone MGC:87406 IMAGE:30343107), complete cds.
BC090249 - Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta), mRNA (cDNA clone MGC:99658 IMAGE:6341766), complete cds.
BC032647 - Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta), mRNA (cDNA clone MGC:45250 IMAGE:5518348), complete cds.
X80907 - H.sapiens mRNA for p85 beta subunit of phosphatidyl-inositol-3-kinase.
JD539807 - Sequence 520831 from Patent EP1572962.
JD139268 - Sequence 120292 from Patent EP1572962.
DQ591947 - Homo sapiens piRNA piR-59059, complete sequence.
JD380158 - Sequence 361182 from Patent EP1572962.
JD095097 - Sequence 76121 from Patent EP1572962.
JD309671 - Sequence 290695 from Patent EP1572962.
BC053375 - Homo sapiens cDNA clone IMAGE:6502617, **** WARNING: chimeric clone ****.
JD406977 - Sequence 388001 from Patent EP1572962.
AB385219 - Synthetic construct DNA, clone: pF1KB9460, Homo sapiens PIK3R2 gene for phosphoinositide-3-kinase, regulatory subunit 2, complete cds, without stop codon, in Flexi system.
LF372704 - JP 2014500723-A/180207: Polycomb-Associated Non-Coding RNAs.
BC011917 - Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta), mRNA (cDNA clone IMAGE:4310429), partial cds.
LF372703 - JP 2014500723-A/180206: Polycomb-Associated Non-Coding RNAs.
BC014170 - Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta), mRNA (cDNA clone IMAGE:4560090), partial cds.
LF372702 - JP 2014500723-A/180205: Polycomb-Associated Non-Coding RNAs.
CU680812 - Synthetic construct Homo sapiens gateway clone IMAGE:100023371 5' read PIK3R2 mRNA.
KJ901637 - Synthetic construct Homo sapiens clone ccsbBroadEn_11031 PIK3R2 gene, encodes complete protein.
LF372701 - JP 2014500723-A/180204: Polycomb-Associated Non-Coding RNAs.
LF372700 - JP 2014500723-A/180203: Polycomb-Associated Non-Coding RNAs.
LF372699 - JP 2014500723-A/180202: Polycomb-Associated Non-Coding RNAs.
LF372698 - JP 2014500723-A/180201: Polycomb-Associated Non-Coding RNAs.
LF372697 - JP 2014500723-A/180200: Polycomb-Associated Non-Coding RNAs.
LF372696 - JP 2014500723-A/180199: Polycomb-Associated Non-Coding RNAs.
JD462868 - Sequence 443892 from Patent EP1572962.
JD470273 - Sequence 451297 from Patent EP1572962.
JD334330 - Sequence 315354 from Patent EP1572962.
JD221009 - Sequence 202033 from Patent EP1572962.
JD402334 - Sequence 383358 from Patent EP1572962.
JD127038 - Sequence 108062 from Patent EP1572962.
JD289988 - Sequence 271012 from Patent EP1572962.
JD494702 - Sequence 475726 from Patent EP1572962.
JD563884 - Sequence 544908 from Patent EP1572962.
JD425987 - Sequence 407011 from Patent EP1572962.
JD278494 - Sequence 259518 from Patent EP1572962.
LF372695 - JP 2014500723-A/180198: Polycomb-Associated Non-Coding RNAs.
JD073647 - Sequence 54671 from Patent EP1572962.
JD162812 - Sequence 143836 from Patent EP1572962.
JD311388 - Sequence 292412 from Patent EP1572962.
LF372694 - JP 2014500723-A/180197: Polycomb-Associated Non-Coding RNAs.
JD167617 - Sequence 148641 from Patent EP1572962.
JD481190 - Sequence 462214 from Patent EP1572962.
JD481191 - Sequence 462215 from Patent EP1572962.
JD481192 - Sequence 462216 from Patent EP1572962.
JD179281 - Sequence 160305 from Patent EP1572962.
JD291796 - Sequence 272820 from Patent EP1572962.
JD446552 - Sequence 427576 from Patent EP1572962.
JD446553 - Sequence 427577 from Patent EP1572962.
JD560226 - Sequence 541250 from Patent EP1572962.
JD092497 - Sequence 73521 from Patent EP1572962.
JD559656 - Sequence 540680 from Patent EP1572962.
JD201265 - Sequence 182289 from Patent EP1572962.
JD430147 - Sequence 411171 from Patent EP1572962.
JD557317 - Sequence 538341 from Patent EP1572962.
JD557318 - Sequence 538342 from Patent EP1572962.
JD529132 - Sequence 510156 from Patent EP1572962.
JD529133 - Sequence 510157 from Patent EP1572962.
JD169218 - Sequence 150242 from Patent EP1572962.
JD169215 - Sequence 150239 from Patent EP1572962.
JD169216 - Sequence 150240 from Patent EP1572962.
JD169217 - Sequence 150241 from Patent EP1572962.
JD041243 - Sequence 22267 from Patent EP1572962.
JD321001 - Sequence 302025 from Patent EP1572962.
JD335300 - Sequence 316324 from Patent EP1572962.
JD388062 - Sequence 369086 from Patent EP1572962.
JD335301 - Sequence 316325 from Patent EP1572962.
JD388063 - Sequence 369087 from Patent EP1572962.
JD118223 - Sequence 99247 from Patent EP1572962.
JA215691 - Sequence 28 from Patent EP2310507.
MA608281 - JP 2018138019-A/180207: Polycomb-Associated Non-Coding RNAs.
MA608280 - JP 2018138019-A/180206: Polycomb-Associated Non-Coding RNAs.
MA608279 - JP 2018138019-A/180205: Polycomb-Associated Non-Coding RNAs.
MA608278 - JP 2018138019-A/180204: Polycomb-Associated Non-Coding RNAs.
MA608277 - JP 2018138019-A/180203: Polycomb-Associated Non-Coding RNAs.
MA608276 - JP 2018138019-A/180202: Polycomb-Associated Non-Coding RNAs.
MA608275 - JP 2018138019-A/180201: Polycomb-Associated Non-Coding RNAs.
MA608274 - JP 2018138019-A/180200: Polycomb-Associated Non-Coding RNAs.
MA608273 - JP 2018138019-A/180199: Polycomb-Associated Non-Coding RNAs.
MA608272 - JP 2018138019-A/180198: Polycomb-Associated Non-Coding RNAs.
MA608271 - JP 2018138019-A/180197: Polycomb-Associated Non-Coding RNAs.
MA443714 - JP 2018138019-A/15640: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6352 - 3-phosphoinositide biosynthesis
PWY-6371 - superpathway of inositol phosphate compounds

Reactome (by CSHL, EBI, and GO)

Protein O00459 (Reactome details) participates in the following event(s):

R-HSA-1295516 IL7:p-Y449-IL7R:JAK1:IL2RG:JAK3 binds PI3K regulatory subunits
R-HSA-74737 p-Y-IRS1,p-Y-IRS2 bind PI3K
R-HSA-186780 PI3-kinase binds to the active receptor
R-HSA-198315 Active IRS recruits PI3K to the plasma membrane and activates it
R-HSA-202203 Recruitment of PI3K to plasma membrane
R-HSA-204798 Interaction of Tie2 and p85 of PI3K
R-HSA-451758 p85 associates with both p-Nephrin and CD2AP
R-HSA-2029273 PI3K binds to p-6Y-SYK
R-HSA-2424482 p85 regulatory unit of PI3K binds p-6Y-SYK
R-HSA-2730842 PI3K associates with phosphorylated GAB2
R-HSA-5218852 p-6Y-VEGFR2 binds PI3K
R-HSA-5357479 p-AXL binds PI3K
R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-114542 Rac1 activation of PI3K
R-HSA-205262 Direct recruitment of PI3K to p-KIT
R-HSA-388830 PI3K binds ICOS
R-HSA-388832 PI3K binds CD28
R-HSA-416358 G alpha (q) inhibits PI3K alpha
R-HSA-1562641 Indirect recruitment of PI3K to KIT via p(Y)-GAB2
R-HSA-1676109 PI4P is phosphorylated to PI(3,4)P2 by PI3K3C[2] at the plasma membrane
R-HSA-1676048 PI(4,5)P2 is phosphorylated to PI(3,4,5)P3 by PIK3C[1] at the plasma membrane
R-HSA-508247 Gab2 binds the p85 subunit of Class 1A PI3 kinases
R-HSA-879917 CBL, GRB2, FYN and PI3K p85 subunit are constitutively associated
R-HSA-914182 14-3-3 zeta binding allows recruitment of PI3K
R-HSA-186800 PI3K catalyses the phosphorylation of PIP2 to PIP3
R-HSA-198266 PI3K produces PIP3 and other phosphatidyl inositides
R-HSA-202365 PI3K bound to TRAT1 phosphorylates PIP2 to PIP3
R-HSA-2029271 PI3K phosphorylates PIP2 to PIP3
R-HSA-2424480 PI3K phosphorylates PIP2 to PIP3
R-HSA-2730870 Phosphorylation of PIP2 to PIP3 by PI3K
R-HSA-389158 CD28 bound PI3K phosphorylates PIP2 to PIP3
R-HSA-437162 PI3K alpha, beta, gamma convert PIP2 to PIP3
R-HSA-912629 CBL is tyrosine phosphorylated
R-HSA-109699 PI3K-containing complexes phosphorylate PIP2 to PIP3
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-5218819 VEGFA dimer:p-6Y-VEGFR2 dimer:PI3K phosphorylates PIP2 to PIP3
R-HSA-1433514 Synthesis of PIP3 from PIP2 by PI3K
R-HSA-1266695 Interleukin-7 signaling
R-HSA-109704 PI3K Cascade
R-HSA-186763 Downstream signal transduction
R-HSA-198203 PI3K/AKT activation
R-HSA-202424 Downstream TCR signaling
R-HSA-210993 Tie2 Signaling
R-HSA-373753 Nephrin family interactions
R-HSA-2029485 Role of phospholipids in phagocytosis
R-HSA-2424491 DAP12 signaling
R-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilization
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-388841 Costimulation by the CD28 family
R-HSA-389357 CD28 dependent PI3K/Akt signaling
R-HSA-416476 G alpha (q) signalling events
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-449147 Signaling by Interleukins
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-112399 IRS-mediated signalling
R-HSA-186797 Signaling by PDGF
R-HSA-187037 Signaling by NTRK1 (TRKA)
R-HSA-202403 TCR signaling
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-1500931 Cell-Cell communication
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-2172127 DAP12 interactions
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-194138 Signaling by VEGF
R-HSA-194315 Signaling by Rho GTPases
R-HSA-912526 Interleukin receptor SHC signaling
R-HSA-912631 Regulation of signaling by CBL
R-HSA-512988 Interleukin-3, 5 and GM-CSF signaling
R-HSA-8853659 RET signaling
R-HSA-388396 GPCR downstream signalling
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-1280218 Adaptive Immune System
R-HSA-389356 CD28 co-stimulation
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-1483255 PI Metabolism
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-2428928 IRS-related events triggered by IGF1R
R-HSA-166520 Signaling by NTRKs
R-HSA-109582 Hemostasis
R-HSA-168249 Innate Immune System
R-HSA-162582 Signal Transduction
R-HSA-451927 Interleukin-2 family signaling
R-HSA-422475 Axon guidance
R-HSA-372790 Signaling by GPCR
R-HSA-168256 Immune System
R-HSA-1483257 Phospholipid metabolism
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-74752 Signaling by Insulin receptor
R-HSA-2428924 IGF1R signaling cascade
R-HSA-1266738 Developmental Biology
R-HSA-556833 Metabolism of lipids
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
R-HSA-1430728 Metabolism
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000222254.1, ENST00000222254.10, ENST00000222254.11, ENST00000222254.12, ENST00000222254.2, ENST00000222254.3, ENST00000222254.4, ENST00000222254.5, ENST00000222254.6, ENST00000222254.7, ENST00000222254.8, ENST00000222254.9, NR_073517, O00459, P85B_HUMAN, Q5EAT5, Q9UPH9, uc317ddz.1, uc317ddz.2
UCSC ID: ENST00000222254.13_4
RefSeq Accession: NM_005027.4
Protein: O00459 (aka P85B_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PIK3R2:
mpph (MPPH Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.