PIK3CB (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) - Rat Genome Database

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Gene: PIK3CB (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) Homo sapiens
Analyze
Symbol: PIK3CB
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
RGD ID: 732496
HGNC Page HGNC
Description: Enables kinase activity. Involved in several processes, including phosphatidylinositol 3-kinase signaling; positive regulation of neutrophil apoptotic process; and regulation of signal transduction. Acts upstream of or within phosphorylation; positive regulation of gene expression; and regulation of cell-matrix adhesion. Located in midbody; nucleolus; and nucleoplasm. Part of nucleus. Implicated in glioblastoma; prostate adenocarcinoma; and prostate cancer. Biomarker of endometrial cancer; glioblastoma; prostate cancer; rectal benign neoplasm; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp779K1237; MGC133043; P110BETA; phosphatidylinositol 3-kinase, catalytic subunit, beta isoform; phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform; phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta isoform; phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta; phosphoinositide-3-kinase, catalytic, beta polypeptide; PI3-kinase p110 subunit beta; PI3-kinase subunit beta; PI3K; PI3K-beta; PI3KBETA; PIK3C1; PtdIns-3-kinase p110; ptdIns-3-kinase subunit beta; ptdIns-3-kinase subunit p110-beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3138,652,698 - 138,834,928 (-)EnsemblGRCh38hg38GRCh38
GRCh383138,652,698 - 138,834,928 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373138,371,540 - 138,553,770 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363139,856,921 - 139,960,875 (-)NCBINCBI36hg18NCBI36
Build 343139,856,928 - 139,960,883NCBI
Celera3136,799,538 - 136,904,134 (-)NCBI
Cytogenetic Map3q22.3NCBI
HuRef3135,746,166 - 135,853,444 (-)NCBIHuRef
CHM1_13138,335,402 - 138,442,207 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis involved in wound healing  (ISO)
autophagy  (IEA)
cell migration  (IBA,TAS)
cellular calcium ion homeostasis  (ISO)
chemotaxis  (TAS)
embryonic cleavage  (ISO)
endocytosis  (IEA)
endothelial cell proliferation  (ISO)
G protein-coupled receptor signaling pathway  (TAS)
homophilic cell adhesion via plasma membrane adhesion molecules  (ISO)
negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  (ISO)
negative regulation of MAP kinase activity  (ISS)
negative regulation of protein kinase B signaling  (IGI)
negative regulation of sprouting angiogenesis  (IMP)
negative regulation of vascular endothelial growth factor signaling pathway  (IGI)
phosphatidylinositol 3-kinase signaling  (IBA,IEA,IGI,IMP,ISS,TAS)
phosphatidylinositol phosphate biosynthetic process  (IBA,IEA,ISO)
phosphatidylinositol-3-phosphate biosynthetic process  (IBA,IEA)
phosphatidylinositol-mediated signaling  (IBA,IEA)
phosphorylation  (IDA,IEA)
platelet activation  (ISO,TAS)
platelet aggregation  (TAS)
positive regulation of autophagy  (TAS)
positive regulation of endothelial cell migration  (IGI)
positive regulation of gene expression  (IMP)
positive regulation of neutrophil apoptotic process  (IMP)
positive regulation of nitric-oxide synthase activity  (IMP)
positive regulation of protein kinase B signaling  (IMP)
positive regulation of Rac protein signal transduction  (IGI)
regulation of cell-matrix adhesion  (IMP)
regulation of clathrin-dependent endocytosis  (TAS)
response to ischemia  (ISS)
response to wounding  (ISO)
signal transduction  (NAS)
sphingosine-1-phosphate receptor signaling pathway  (IMP)
transmembrane receptor protein tyrosine kinase signaling pathway  (TAS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. An HJ, etal., J Pathol. 2007 Jun;212(2):161-9.
2. Chen H, etal., J Neurooncol. 2011 Aug;104(1):155-67. doi: 10.1007/s11060-010-0492-2. Epub 2010 Dec 29.
3. Clément K, etal., Mol Genet Metab. 2009 Mar;96(3):129-32. doi: 10.1016/j.ymgme.2008.11.160. Epub 2008 Dec 18.
4. Edgar KA, etal., Cancer Res. 2010 Feb 1;70(3):1164-72. doi: 10.1158/0008-5472.CAN-09-2525. Epub 2010 Jan 26.
5. GOA_HUMAN data from the GO Consortium
6. Hirsch E, etal., J Endocrinol. 2007 Aug;194(2):243-56.
7. Jackson SP, etal., Nat Med. 2005 May;11(5):507-14. Epub 2005 Apr 17.
8. Karlsson T, etal., Oncotarget. 2017 Jan 17;8(3):3881-3894. doi: 10.18632/oncotarget.13989.
9. KEGG
10. Kim YB, etal., Diabetes. 2002 Feb;51(2):443-8.
11. Pipeline to import KEGG annotations from KEGG into RGD
12. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
13. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. RGD automated import pipeline for gene-chemical interactions
15. Song L, etal., Mol Med Rep. 2016 Feb;13(2):1204-10. doi: 10.3892/mmr.2015.4661. Epub 2015 Dec 9.
16. Varghese RT, etal., Oncotarget. 2016 Mar 4. doi: 10.18632/oncotarget.7917.
17. Wee S, etal., Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):13057-62. doi: 10.1073/pnas.0802655105. Epub 2008 Aug 28.
18. Wen F, etal., Int J Clin Exp Pathol. 2014 Oct 15;7(11):8295-303. eCollection 2014.
19. Yu WD, etal., World J Gastroenterol. 2014 Nov 21;20(43):16258-67. doi: 10.3748/wjg.v20.i43.16258.
20. Zhu Q, etal., Oncogene. 2008 Jul 31;27(33):4569-79. doi: 10.1038/onc.2008.91. Epub 2008 Mar 31.
Additional References at PubMed
PMID:2174051   PMID:7479742   PMID:8139559   PMID:8246984   PMID:8636073   PMID:8798481   PMID:9247029   PMID:9341793   PMID:9394803   PMID:9446795   PMID:9708406   PMID:9808187  
PMID:9822674   PMID:10208934   PMID:10358930   PMID:10570282   PMID:10949031   PMID:10985305   PMID:11154208   PMID:11156964   PMID:11289809   PMID:11432782   PMID:11459796   PMID:11676480  
PMID:11752399   PMID:11916960   PMID:11994280   PMID:12029088   PMID:12077252   PMID:12163475   PMID:12167717   PMID:12477932   PMID:12502677   PMID:12502714   PMID:12507995   PMID:12526811  
PMID:12529960   PMID:12551992   PMID:12584329   PMID:12660731   PMID:12960231   PMID:14530346   PMID:14602571   PMID:14968112   PMID:15242975   PMID:15328530   PMID:15468162   PMID:15489334  
PMID:15582274   PMID:15664519   PMID:15689238   PMID:16081599   PMID:16091017   PMID:16339315   PMID:16380997   PMID:16432180   PMID:16524887   PMID:17157319   PMID:17522703   PMID:17632570  
PMID:17676480   PMID:17977952   PMID:17986385   PMID:18285463   PMID:18327411   PMID:18398029   PMID:18453587   PMID:18558630   PMID:18854243   PMID:18996102   PMID:19380743   PMID:19380768  
PMID:19700402   PMID:19815551   PMID:19913121   PMID:20019835   PMID:20041213   PMID:20056178   PMID:20058239   PMID:20107106   PMID:20331378   PMID:20508983   PMID:20602615   PMID:20628086  
PMID:20691427   PMID:20702582   PMID:20713702   PMID:20818790   PMID:21029719   PMID:21030680   PMID:21035500   PMID:21123564   PMID:21321382   PMID:21362552   PMID:21383062   PMID:21487106  
PMID:21706016   PMID:21765914   PMID:21825134   PMID:21873635   PMID:21900206   PMID:22402981   PMID:22528234   PMID:22701645   PMID:22939629   PMID:22984590   PMID:23051731   PMID:23077641  
PMID:23211529   PMID:23215766   PMID:23251686   PMID:23301033   PMID:23318440   PMID:23397142   PMID:23434372   PMID:23568272   PMID:23604317   PMID:23734178   PMID:23956138   PMID:24073214  
PMID:24114431   PMID:24189400   PMID:24223153   PMID:24284056   PMID:24657164   PMID:24958106   PMID:24995579   PMID:25104021   PMID:25139353   PMID:25241761   PMID:25327288   PMID:25339672  
PMID:25348717   PMID:25398937   PMID:25556234   PMID:25605332   PMID:25754235   PMID:25814554   PMID:25854701   PMID:25921289   PMID:25982275   PMID:26075907   PMID:26122654   PMID:26186194  
PMID:26206180   PMID:26270987   PMID:26318878   PMID:26344197   PMID:26458524   PMID:26496610   PMID:26500061   PMID:26549638   PMID:26590370   PMID:26645485   PMID:26699864   PMID:26729197  
PMID:26747178   PMID:26759240   PMID:26772887   PMID:26773499   PMID:26775845   PMID:26780727   PMID:26792722   PMID:26839216   PMID:26884879   PMID:26895380   PMID:27013201   PMID:27048245  
PMID:27076174   PMID:27107012   PMID:27169346   PMID:27176780   PMID:27184134   PMID:27190335   PMID:27356299   PMID:27422603   PMID:27449010   PMID:27481935   PMID:27806189   PMID:27863432  
PMID:27903677   PMID:28122716   PMID:28196852   PMID:28302479   PMID:28319085   PMID:28339079   PMID:28442344   PMID:28514442   PMID:28549032   PMID:28578353   PMID:28645941   PMID:28712871  
PMID:28723560   PMID:28733463   PMID:28783168   PMID:28972046   PMID:28986522   PMID:29016844   PMID:29046393   PMID:29203244   PMID:29277178   PMID:29526746   PMID:29902570   PMID:30021884  
PMID:30243721   PMID:30496354   PMID:30499025   PMID:30601996   PMID:30709367   PMID:30971294   PMID:31409694   PMID:31513749   PMID:31586073   PMID:31593688   PMID:31601918   PMID:31615875  
PMID:31629932   PMID:31741433   PMID:31959764   PMID:31980649   PMID:32312789   PMID:32561752   PMID:32681423   PMID:32694731   PMID:32814053   PMID:32879446   PMID:33834259   PMID:34079125  


Genomics

Comparative Map Data
PIK3CB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3138,652,698 - 138,834,928 (-)EnsemblGRCh38hg38GRCh38
GRCh383138,652,698 - 138,834,928 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373138,371,540 - 138,553,770 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363139,856,921 - 139,960,875 (-)NCBINCBI36hg18NCBI36
Build 343139,856,928 - 139,960,883NCBI
Celera3136,799,538 - 136,904,134 (-)NCBI
Cytogenetic Map3q22.3NCBI
HuRef3135,746,166 - 135,853,444 (-)NCBIHuRef
CHM1_13138,335,402 - 138,442,207 (-)NCBICHM1_1
Pik3cb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39998,920,455 - 99,022,264 (-)NCBIGRCm39mm39
GRCm39 Ensembl998,918,707 - 99,022,674 (-)Ensembl
GRCm38999,038,402 - 99,140,235 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl999,036,654 - 99,140,621 (-)EnsemblGRCm38mm10GRCm38
MGSCv37998,938,821 - 99,040,630 (-)NCBIGRCm37mm9NCBIm37
MGSCv36998,847,754 - 98,949,439 (-)NCBImm8
Celera998,576,088 - 98,662,033 (-)NCBICelera
Cytogenetic Map9E3.3NCBI
Pik3cb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2899,594,600 - 99,699,772 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl899,594,644 - 99,699,663 (-)Ensembl
Rnor_6.08107,275,849 - 107,381,088 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8107,275,725 - 107,380,933 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08106,700,158 - 106,788,063 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48103,886,682 - 103,957,112 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.18103,906,136 - 103,976,567 (-)NCBI
Celera899,000,434 - 99,072,100 (-)NCBICelera
Cytogenetic Map8q31NCBI
Pik3cb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955501259,645 - 379,909 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955501251,829 - 381,255 (+)NCBIChiLan1.0ChiLan1.0
PIK3CB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13143,288,563 - 143,431,314 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3143,288,563 - 143,431,314 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03135,685,120 - 135,867,096 (-)NCBIMhudiblu_PPA_v0panPan3
PIK3CB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12334,832,661 - 34,955,410 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2334,836,540 - 34,993,939 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2334,826,488 - 35,032,061 (-)NCBI
ROS_Cfam_1.02335,375,472 - 35,581,398 (-)NCBI
UMICH_Zoey_3.12335,056,048 - 35,262,274 (-)NCBI
UNSW_CanFamBas_1.02335,121,991 - 35,327,601 (-)NCBI
UU_Cfam_GSD_1.02335,371,974 - 35,577,846 (-)NCBI
Pik3cb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560274,167,334 - 74,302,042 (-)NCBI
SpeTri2.0NW_004936540907,118 - 1,041,814 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIK3CB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1379,425,812 - 79,610,840 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11379,427,033 - 79,610,840 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21387,042,709 - 87,067,016 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIK3CB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11551,705,585 - 51,885,848 (+)NCBI
ChlSab1.1 Ensembl1551,775,733 - 51,889,238 (+)Ensembl
Vero_WHO_p1.0NW_02366604124,691,992 - 24,889,924 (+)NCBI
Pik3cb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473015,226,786 - 15,399,097 (-)NCBI

Position Markers
SHGC-63  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373138,372,877 - 138,373,054UniSTSGRCh37
Build 363139,855,567 - 139,855,744RGDNCBI36
Celera3136,798,184 - 136,798,361RGD
Cytogenetic Map3q22.3UniSTS
HuRef3135,747,503 - 135,747,680UniSTS
WI-14619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373138,373,710 - 138,373,859UniSTSGRCh37
Build 363139,856,400 - 139,856,549RGDNCBI36
Celera3136,799,017 - 136,799,166RGD
Cytogenetic Map3q22.3UniSTS
HuRef3135,748,336 - 135,748,485UniSTS
GeneMap99-GB4 RH Map3486.13UniSTS
Whitehead-RH Map3632.6UniSTS
NCBI RH Map31206.4UniSTS
RH12673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373138,372,988 - 138,373,147UniSTSGRCh37
Build 363139,855,678 - 139,855,837RGDNCBI36
Celera3136,798,295 - 136,798,454RGD
Cytogenetic Map3q22.3UniSTS
HuRef3135,747,614 - 135,747,773UniSTS
GeneMap99-GB4 RH Map3488.16UniSTS
NCBI RH Map31200.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4726
Count of miRNA genes:1054
Interacting mature miRNAs:1299
Transcripts:ENST00000289153, ENST00000461451, ENST00000462294, ENST00000462898, ENST00000465581, ENST00000469284, ENST00000473435, ENST00000477593, ENST00000481749, ENST00000483968, ENST00000485060, ENST00000487552, ENST00000493568, ENST00000544716
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 1075 1079 833 194 975 112 3199 999 1778 289 666 1260 95 598 1913 4
Low 1364 1909 893 430 975 353 1158 1195 1954 129 793 353 80 1 606 875 1 2
Below cutoff 3 1 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI623206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX327653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289153   ⟹   ENSP00000289153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,652,699 - 138,759,359 (-)Ensembl
RefSeq Acc Id: ENST00000462294   ⟹   ENSP00000418834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,714,660 - 138,742,781 (-)Ensembl
RefSeq Acc Id: ENST00000462898   ⟹   ENSP00000420108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,654,068 - 138,834,917 (-)Ensembl
RefSeq Acc Id: ENST00000465581   ⟹   ENSP00000417329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,759,175 - 138,770,555 (-)Ensembl
RefSeq Acc Id: ENST00000469284   ⟹   ENSP00000419513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,654,020 - 138,712,304 (-)Ensembl
RefSeq Acc Id: ENST00000473435   ⟹   ENSP00000419091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,681,984 - 138,712,253 (-)Ensembl
RefSeq Acc Id: ENST00000477593   ⟹   ENSP00000418143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,654,018 - 138,834,752 (-)Ensembl
RefSeq Acc Id: ENST00000481749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,655,088 - 138,707,621 (-)Ensembl
RefSeq Acc Id: ENST00000483968   ⟹   ENSP00000419857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,755,757 - 138,834,833 (-)Ensembl
RefSeq Acc Id: ENST00000485060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,683,678 - 138,685,126 (-)Ensembl
RefSeq Acc Id: ENST00000487552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,657,283 - 138,663,933 (-)Ensembl
RefSeq Acc Id: ENST00000493568   ⟹   ENSP00000417869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,655,150 - 138,714,715 (-)Ensembl
RefSeq Acc Id: ENST00000544716   ⟹   ENSP00000438259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,654,022 - 138,714,486 (-)Ensembl
RefSeq Acc Id: ENST00000674063   ⟹   ENSP00000501150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,652,698 - 138,834,928 (-)Ensembl
RefSeq Acc Id: NM_001256045   ⟹   NP_001242974
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,652,698 - 138,707,621 (-)NCBI
GRCh373138,371,540 - 138,553,780 (-)NCBI
HuRef3135,746,166 - 135,853,444 (-)NCBI
CHM1_13138,335,402 - 138,390,462 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006219   ⟹   NP_006210
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,652,698 - 138,834,928 (-)NCBI
GRCh373138,371,540 - 138,553,780 (-)NCBI
Build 363139,856,921 - 139,960,875 (-)NCBI Archive
HuRef3135,746,166 - 135,853,444 (-)NCBI
CHM1_13138,335,402 - 138,442,207 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713659   ⟹   XP_006713722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,654,016 - 138,834,914 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512895   ⟹   XP_011511197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,654,016 - 138,834,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006619   ⟹   XP_016862108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,654,016 - 138,760,804 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006621   ⟹   XP_016862110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,654,016 - 138,759,188 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453596   ⟹   XP_024309364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,654,016 - 138,759,188 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453597   ⟹   XP_024309365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,654,027 - 138,759,188 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959542
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,654,016 - 138,759,188 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006210   ⟸   NM_006219
- Peptide Label: isoform 1
- UniProtKB: P42338 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001242974   ⟸   NM_001256045
- Peptide Label: isoform 2
- UniProtKB: B4DER4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713722   ⟸   XM_006713659
- Peptide Label: isoform X1
- UniProtKB: P42338 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511197   ⟸   XM_011512895
- Peptide Label: isoform X1
- UniProtKB: P42338 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016862108   ⟸   XM_017006619
- Peptide Label: isoform X1
- UniProtKB: P42338 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016862110   ⟸   XM_017006621
- Peptide Label: isoform X4
- UniProtKB: B4DZI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309364   ⟸   XM_024453596
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024309365   ⟸   XM_024453597
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000420108   ⟸   ENST00000462898
RefSeq Acc Id: ENSP00000418143   ⟸   ENST00000477593
RefSeq Acc Id: ENSP00000501150   ⟸   ENST00000674063
RefSeq Acc Id: ENSP00000417329   ⟸   ENST00000465581
RefSeq Acc Id: ENSP00000438259   ⟸   ENST00000544716
RefSeq Acc Id: ENSP00000417869   ⟸   ENST00000493568
RefSeq Acc Id: ENSP00000419513   ⟸   ENST00000469284
RefSeq Acc Id: ENSP00000419857   ⟸   ENST00000483968
RefSeq Acc Id: ENSP00000289153   ⟸   ENST00000289153
RefSeq Acc Id: ENSP00000419091   ⟸   ENST00000473435
RefSeq Acc Id: ENSP00000418834   ⟸   ENST00000462294
Protein Domains
C2 PI3K-type   PI3K-ABD   PI3K-RBD   PI3K/PI4K   PIK helical

Promoters
RGD ID:6865818
Promoter ID:EPDNEW_H6074
Type:initiation region
Name:PIK3CB_1
Description:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunitbeta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,759,286 - 138,759,346EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3 copy number gain See cases [RCV000051535] Chr3:138296035..139015548 [GRCh38]
Chr3:138014877..138734390 [GRCh37]
Chr3:139497567..140217080 [NCBI36]
Chr3:3q22.3-23
uncertain significance
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_001256045.1(PIK3CB):c.1332+2332C>A single nucleotide variant Lung cancer [RCV000092960] Chr3:138661574 [GRCh38]
Chr3:138380416 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_006219.2(PIK3CB):c.621+408T>C single nucleotide variant Lung cancer [RCV000092961] Chr3:138742150 [GRCh38]
Chr3:138460992 [GRCh37]
Chr3:3q22.3
uncertain significance
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 copy number loss See cases [RCV000134711] Chr3:137932000..144468739 [GRCh38]
Chr3:137650842..144187581 [GRCh37]
Chr3:139133532..145670271 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3 copy number gain See cases [RCV000136768] Chr3:138629115..140055056 [GRCh38]
Chr3:138347957..139773898 [GRCh37]
Chr3:139830647..141256588 [NCBI36]
Chr3:3q22.3-23
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3 copy number gain See cases [RCV000138018] Chr3:138529348..139056446 [GRCh38]
Chr3:138248190..138775288 [GRCh37]
Chr3:139730880..140257978 [NCBI36]
Chr3:3q22.3-23
uncertain significance
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh38/hg38 3q22.3-23(chr3:138529348-139130105)x3 copy number gain See cases [RCV000137779] Chr3:138529348..139130105 [GRCh38]
Chr3:138248190..138848947 [GRCh37]
Chr3:139730880..140331637 [NCBI36]
Chr3:3q22.3-23
uncertain significance
GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 copy number loss See cases [RCV000139240] Chr3:130401265..139005019 [GRCh38]
Chr3:130120109..138723861 [GRCh37]
Chr3:131602799..140206551 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 copy number loss See cases [RCV000139135] Chr3:137991123..143618786 [GRCh38]
Chr3:137709965..143337628 [GRCh37]
Chr3:139192655..144820318 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 copy number loss See cases [RCV000140453] Chr3:134333553..141701458 [GRCh38]
Chr3:134052395..141420300 [GRCh37]
Chr3:135535085..142902990 [NCBI36]
Chr3:3q22.2-23
pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138468173-139001141)x3 copy number gain See cases [RCV000143680] Chr3:138468173..139001141 [GRCh38]
Chr3:138187015..138719983 [GRCh37]
Chr3:139669705..140202673 [NCBI36]
Chr3:3q22.3-23
likely benign|uncertain significance
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 copy number gain See cases [RCV000239877] Chr3:135935129..141867748 [GRCh37]
Chr3:3q22.3-23
likely pathogenic
GRCh37/hg19 3q22.3-23(chr3:138413416-139096053)x3 copy number gain See cases [RCV000511927] Chr3:138413416..139096053 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3 copy number gain not provided [RCV000682308] Chr3:138023193..140565017 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_006219.3(PIK3CB):c.3205A>C (p.Arg1069=) single nucleotide variant not provided [RCV000906825] Chr3:138655397 [GRCh38]
Chr3:138374239 [GRCh37]
Chr3:3q22.3
benign
NM_006219.3(PIK3CB):c.594C>T (p.Ile198=) single nucleotide variant not provided [RCV000925643] Chr3:138742585 [GRCh38]
Chr3:138461427 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.2687G>T (p.Arg896Leu) single nucleotide variant not provided [RCV000922273] Chr3:138664015 [GRCh38]
Chr3:138382857 [GRCh37]
Chr3:3q22.3
likely benign
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24
pathogenic
NM_006219.3(PIK3CB):c.870G>A (p.Lys290=) single nucleotide variant not provided [RCV000896966] Chr3:138734736 [GRCh38]
Chr3:138453578 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.1302+9A>G single nucleotide variant not provided [RCV000975013] Chr3:138714459 [GRCh38]
Chr3:138433301 [GRCh37]
Chr3:3q22.3
benign
NM_006219.3(PIK3CB):c.1449A>G (p.Pro483=) single nucleotide variant not provided [RCV000901702] Chr3:138707240 [GRCh38]
Chr3:138426082 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.1854C>T (p.Tyr618=) single nucleotide variant not provided [RCV000881126] Chr3:138694824 [GRCh38]
Chr3:138413666 [GRCh37]
Chr3:3q22.3
benign
NM_006219.3(PIK3CB):c.1932A>G (p.Gln644=) single nucleotide variant not provided [RCV000897837] Chr3:138691104 [GRCh38]
Chr3:138409946 [GRCh37]
Chr3:3q22.3
benign
GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3 copy number gain not provided [RCV000846949] Chr3:135186881..140826836 [GRCh37]
Chr3:3q22.2-23
uncertain significance
NM_006219.3(PIK3CB):c.2961G>T (p.Glu987Asp) single nucleotide variant NK-cell enteropathy [RCV000791315] Chr3:138656256 [GRCh38]
Chr3:138375098 [GRCh37]
Chr3:3q22.3
likely pathogenic
GRCh37/hg19 3q22.3-23(chr3:138253995-138769278)x3 copy number gain not provided [RCV000846131] Chr3:138253995..138769278 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3q22.3(chr3:138439305-138660471)x3 copy number gain not provided [RCV000847673] Chr3:138439305..138660471 [GRCh37]
Chr3:3q22.3
uncertain significance
GRCh37/hg19 3q22.3-23(chr3:138220588-138777135)x3 copy number gain not provided [RCV000848316] Chr3:138220588..138777135 [GRCh37]
Chr3:3q22.3-23
uncertain significance
NM_006219.3(PIK3CB):c.2433A>G (p.Arg811=) single nucleotide variant not provided [RCV000895643] Chr3:138682038 [GRCh38]
Chr3:138400880 [GRCh37]
Chr3:3q22.3
benign
NM_006219.3(PIK3CB):c.622-10C>T single nucleotide variant not provided [RCV000909240] Chr3:138737896 [GRCh38]
Chr3:138456738 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.1431A>G (p.Gly477=) single nucleotide variant not provided [RCV000908611] Chr3:138707258 [GRCh38]
Chr3:138426100 [GRCh37]
Chr3:3q22.3
benign
NM_006219.3(PIK3CB):c.2454A>G (p.Gln818=) single nucleotide variant not provided [RCV000917016] Chr3:138682017 [GRCh38]
Chr3:138400859 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.2943-9C>T single nucleotide variant not provided [RCV000920381] Chr3:138656283 [GRCh38]
Chr3:138375125 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.2672+10T>C single nucleotide variant not provided [RCV000926670] Chr3:138665026 [GRCh38]
Chr3:138383868 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.1302+10T>C single nucleotide variant not provided [RCV000907537] Chr3:138714458 [GRCh38]
Chr3:138433300 [GRCh37]
Chr3:3q22.3
benign
NM_006219.3(PIK3CB):c.3015G>C (p.Ala1005=) single nucleotide variant not provided [RCV000982438] Chr3:138656202 [GRCh38]
Chr3:138375044 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.1524C>T (p.Phe508=) single nucleotide variant not provided [RCV000907633] Chr3:138707165 [GRCh38]
Chr3:138426007 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.1980A>G (p.Leu660=) single nucleotide variant not provided [RCV000890050] Chr3:138691056 [GRCh38]
Chr3:138409898 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.2150A>G (p.Asn717Ser) single nucleotide variant not provided [RCV000890402] Chr3:138684790 [GRCh38]
Chr3:138403632 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.2796+8G>T single nucleotide variant not provided [RCV000934273] Chr3:138663898 [GRCh38]
Chr3:138382740 [GRCh37]
Chr3:3q22.3
likely benign
NM_006219.3(PIK3CB):c.2425+9T>G single nucleotide variant not provided [RCV000935217] Chr3:138683669 [GRCh38]
Chr3:138402511 [GRCh37]
Chr3:3q22.3
likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q22.3(chr3:138203261-138669628)x3 copy number gain not provided [RCV001005472] Chr3:138203261..138669628 [GRCh37]
Chr3:3q22.3
likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8976 AgrOrtholog
COSMIC PIK3CB COSMIC
Ensembl Genes ENSG00000051382 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000289153 UniProtKB/Swiss-Prot
  ENSP00000417329 UniProtKB/TrEMBL
  ENSP00000417869 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000418143 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418834 UniProtKB/TrEMBL
  ENSP00000419091 UniProtKB/TrEMBL
  ENSP00000419513 UniProtKB/TrEMBL
  ENSP00000419857 UniProtKB/TrEMBL
  ENSP00000420108 UniProtKB/TrEMBL
  ENSP00000438259 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501150 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000289153 UniProtKB/Swiss-Prot
  ENST00000462294 UniProtKB/TrEMBL
  ENST00000462898 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000465581 UniProtKB/TrEMBL
  ENST00000469284 UniProtKB/TrEMBL
  ENST00000473435 UniProtKB/TrEMBL
  ENST00000477593 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000483968 UniProtKB/TrEMBL
  ENST00000493568 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000544716 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674063 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1070.11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000051382 GTEx
HGNC ID HGNC:8976 ENTREZGENE
Human Proteome Map PIK3CB Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3/4_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3/4_kinase_cat_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3/4_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_accessory_dom UniProtKB/TrEMBL
  PI3K_accessory_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_adapt-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_Ras-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_Vps34 UniProtKB/TrEMBL
  PI3Kbeta_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI_Kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositide-3_kin_accessory_dom UniProtKB/Swiss-Prot
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5291 UniProtKB/Swiss-Prot
NCBI Gene 5291 ENTREZGENE
OMIM 602925 OMIM
PANTHER PTHR10048 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PI3_PI4_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_p85B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_rbd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3Ka UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33309 PharmGKB
PIRSF PI3K_Vps34 UniProtKB/TrEMBL
PROSITE PI3_4_KINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3_4_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3_4_KINASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_ABD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIK_HELICAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PI3K_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_p85B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_rbd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3Ka UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3Kc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DER4 ENTREZGENE, UniProtKB/TrEMBL
  B4DZI3 ENTREZGENE, UniProtKB/TrEMBL
  C9J345_HUMAN UniProtKB/TrEMBL
  C9JYX0_HUMAN UniProtKB/TrEMBL
  F8WDJ8_HUMAN UniProtKB/TrEMBL
  H0Y871_HUMAN UniProtKB/TrEMBL
  H7C527_HUMAN UniProtKB/TrEMBL
  H7C565_HUMAN UniProtKB/TrEMBL
  H7C5C3_HUMAN UniProtKB/TrEMBL
  P42338 ENTREZGENE, UniProtKB/Swiss-Prot
  Q68DL0_HUMAN UniProtKB/TrEMBL
  Q6PJ60_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DNF0 UniProtKB/Swiss-Prot
  Q24JU2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PIK3CB  phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta    phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta  Symbol and/or name change 5135510 APPROVED
2012-07-17 PIK3CB  phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta  PIK3CB  phosphoinositide-3-kinase, catalytic, beta polypeptide  Symbol and/or name change 5135510 APPROVED
2011-12-27 PIK3CB  phosphoinositide-3-kinase, catalytic, beta polypeptide  PIK3CB  phosphoinositide-3-kinase, catalytic, beta polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-16 PIK3CB  phosphoinositide-3-kinase, catalytic, beta polypeptide  PIK3CB  phosphoinositide-3-kinase, catalytic, beta polypeptide  Symbol and/or name change 5135510 APPROVED