PPP2R2A (protein phosphatase 2 regulatory subunit Balpha) - Rat Genome Database

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Gene: PPP2R2A (protein phosphatase 2 regulatory subunit Balpha) Homo sapiens
Analyze
Symbol: PPP2R2A
Name: protein phosphatase 2 regulatory subunit Balpha
RGD ID: 733714
HGNC Page HGNC
Description: Exhibits protein phosphatase regulator activity. Involved in protein dephosphorylation. Localizes to protein phosphatase type 2A complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B55-ALPHA; B55A; B55ALPHA; DKFZp686N05117; FLJ26613; FLJ41727; MGC52248; PR52A; PR55A; PR55alpha; protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), alpha isoform; protein phosphatase 2 (formerly 2A), regulatory subunit B (PR52), alpha isoform; serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, alpha isoform; serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform; testicular tissue protein Li 156
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100421802  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl826,291,508 - 26,372,680 (+)EnsemblGRCh38hg38GRCh38
GRCh38826,291,508 - 26,372,680 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37826,149,024 - 26,230,196 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36826,204,951 - 26,284,563 (+)NCBINCBI36hg18NCBI36
Build 34826,204,950 - 26,284,562NCBI
Celera825,111,391 - 25,192,579 (+)NCBI
Cytogenetic Map8p21.2NCBI
HuRef824,693,626 - 24,775,115 (+)NCBIHuRef
CHM1_1826,350,602 - 26,431,783 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
camptothecin  (EXP)
carbamazepine  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
clozapine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
diclofenac  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
haloperidol  (ISO)
josamycin  (EXP)
methapyrilene  (ISO)
microcystin-LR  (EXP,ISO)
mitomycin C  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
nocodazole  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1328247   PMID:1849734   PMID:9013886   PMID:9400615   PMID:9514514   PMID:9774674   PMID:9847399   PMID:10191253   PMID:10200280   PMID:10681496   PMID:10862698   PMID:11007961  
PMID:11259128   PMID:11531413   PMID:11956189   PMID:12370081   PMID:12477932   PMID:14702039   PMID:15004009   PMID:15142377   PMID:15380617   PMID:15489334   PMID:15578586   PMID:15638722  
PMID:15725353   PMID:15761952   PMID:15775987   PMID:16041367   PMID:16048649   PMID:16239222   PMID:16239230   PMID:16474850   PMID:16580887   PMID:16790090   PMID:16899564   PMID:17055435  
PMID:17110338   PMID:17148452   PMID:17220478   PMID:17245430   PMID:17255109   PMID:17266553   PMID:17353931   PMID:17529992   PMID:17540176   PMID:17604273   PMID:17632056   PMID:17693407  
PMID:18187620   PMID:18339811   PMID:18670647   PMID:18697906   PMID:18782753   PMID:18971272   PMID:19156129   PMID:19293187   PMID:19322201   PMID:19535438   PMID:19556239   PMID:19890961  
PMID:19915589   PMID:20360068   PMID:20711181   PMID:21047956   PMID:21072166   PMID:21081666   PMID:21145461   PMID:21351466   PMID:21706016   PMID:21813648   PMID:21872824   PMID:21873635  
PMID:22174317   PMID:22417654   PMID:22422068   PMID:22863883   PMID:22939629   PMID:22948661   PMID:22952844   PMID:23022380   PMID:23087057   PMID:23184937   PMID:23287597   PMID:23443559  
PMID:23563607   PMID:23602568   PMID:23752268   PMID:23878394   PMID:23956138   PMID:23959478   PMID:24244166   PMID:24255178   PMID:24390425   PMID:24858343   PMID:25071155   PMID:25238119  
PMID:25324306   PMID:25544563   PMID:25546391   PMID:25654102   PMID:25659154   PMID:25756610   PMID:25816751   PMID:25879784   PMID:25921289   PMID:25963833   PMID:26054685   PMID:26186194  
PMID:26297546   PMID:26310906   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26499835   PMID:26549023   PMID:26618866   PMID:26638075   PMID:26673895   PMID:26800397   PMID:26848620  
PMID:26893480   PMID:26894577   PMID:26972000   PMID:27173435   PMID:27531894   PMID:27588481   PMID:27684187   PMID:27880917   PMID:28031328   PMID:28137758   PMID:28302793   PMID:28329677  
PMID:28330616   PMID:28439046   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28609714   PMID:28611094   PMID:28611215   PMID:28675297   PMID:28680062   PMID:29089450   PMID:29229926  
PMID:29331416   PMID:29490077   PMID:29507755   PMID:29532877   PMID:29564676   PMID:29703843   PMID:29844126   PMID:29882471   PMID:29884836   PMID:29943541   PMID:30021884   PMID:30033366  
PMID:30595372   PMID:30611118   PMID:30833792   PMID:30948266   PMID:31015455   PMID:31046837   PMID:31091453   PMID:31221814   PMID:31239290   PMID:31343991   PMID:31620119   PMID:31753913  
PMID:31822558   PMID:31829105   PMID:31875526   PMID:31901078   PMID:31923339   PMID:31980649   PMID:32416067   PMID:32529326   PMID:32814053   PMID:32950569   PMID:33060197   PMID:33108758  


Genomics

Comparative Map Data
PPP2R2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl826,291,508 - 26,372,680 (+)EnsemblGRCh38hg38GRCh38
GRCh38826,291,508 - 26,372,680 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37826,149,024 - 26,230,196 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36826,204,951 - 26,284,563 (+)NCBINCBI36hg18NCBI36
Build 34826,204,950 - 26,284,562NCBI
Celera825,111,391 - 25,192,579 (+)NCBI
Cytogenetic Map8p21.2NCBI
HuRef824,693,626 - 24,775,115 (+)NCBIHuRef
CHM1_1826,350,602 - 26,431,783 (+)NCBICHM1_1
Ppp2r2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391467,251,505 - 67,309,920 (-)NCBIGRCm39mm39
GRCm39 Ensembl1467,251,505 - 67,309,893 (-)Ensembl
GRCm381467,014,056 - 67,072,471 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1467,014,056 - 67,072,444 (-)EnsemblGRCm38mm10GRCm38
MGSCv371467,634,508 - 67,691,266 (-)NCBIGRCm37mm9NCBIm37
MGSCv361465,968,164 - 66,026,581 (-)NCBImm8
Celera1464,770,857 - 64,827,586 (-)NCBICelera
Cytogenetic Map14D1NCBI
Ppp2r2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21541,204,659 - 41,263,924 (-)NCBI
Rnor_6.0 Ensembl1543,673,960 - 43,733,182 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01543,673,958 - 43,733,182 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01547,862,028 - 47,921,336 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41546,546,447 - 46,605,977 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11546,562,545 - 46,621,738 (-)NCBI
Celera1540,872,027 - 40,931,318 (-)NCBICelera
Cytogenetic Map15p12NCBI
Ppp2r2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540349,042,185 - 49,113,737 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540349,042,188 - 49,113,743 (+)NCBIChiLan1.0ChiLan1.0
PPP2R2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1822,476,159 - 22,555,921 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl822,476,159 - 22,556,963 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0825,569,563 - 25,650,782 (+)NCBIMhudiblu_PPA_v0panPan3
PPP2R2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12531,196,613 - 31,282,027 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2531,197,319 - 31,281,732 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2531,784,273 - 31,929,614 (-)NCBI
ROS_Cfam_1.02531,396,726 - 31,542,249 (-)NCBI
UMICH_Zoey_3.12531,353,652 - 31,499,263 (-)NCBI
UNSW_CanFamBas_1.02531,201,385 - 31,347,009 (-)NCBI
UU_Cfam_GSD_1.02531,368,861 - 31,514,548 (-)NCBI
Ppp2r2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049439,291,878 - 9,360,545 (-)NCBI
SpeTri2.0NW_004936757546,130 - 613,226 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP2R2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1410,195,443 - 10,284,709 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11410,195,388 - 10,283,741 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21411,360,498 - 11,448,854 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPP2R2A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1824,390,751 - 24,485,657 (+)NCBI
ChlSab1.1 Ensembl824,390,781 - 24,487,195 (+)Ensembl
Vero_WHO_p1.0NW_02366605217,672,188 - 17,753,857 (-)NCBI
Ppp2r2a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475821,191,979 - 21,275,977 (+)NCBI

Position Markers
WI-18898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,228,376 - 26,228,521UniSTSGRCh37
Build 36826,284,293 - 26,284,438RGDNCBI36
Celera825,190,759 - 25,190,904RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map8p21.2UniSTS
HuRef1325,897,141 - 25,897,286UniSTS
HuRef824,773,295 - 24,773,440UniSTS
GeneMap99-GB4 RH Map8104.14UniSTS
Whitehead-RH Map8103.7UniSTS
NCBI RH Map8284.1UniSTS
RH102571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,229,854 - 26,229,996UniSTSGRCh37
Build 36826,285,771 - 26,285,913RGDNCBI36
Celera825,192,237 - 25,192,379RGD
Cytogenetic Map8p21.2UniSTS
HuRef824,774,773 - 24,774,915UniSTS
GeneMap99-GB4 RH Map8101.88UniSTS
RH104384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,229,426 - 26,229,605UniSTSGRCh37
Build 36826,285,343 - 26,285,522RGDNCBI36
Celera825,191,809 - 25,191,988RGD
Cytogenetic Map8p21.2UniSTS
HuRef824,774,345 - 24,774,524UniSTS
GeneMap99-GB4 RH Map8104.14UniSTS
PPP2R2A_1255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,227,962 - 26,228,816UniSTSGRCh37
Build 36826,283,879 - 26,284,733RGDNCBI36
Celera825,190,345 - 25,191,199RGD
HuRef824,772,881 - 24,773,735UniSTS
SHGC-36329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,202,815 - 26,202,941UniSTSGRCh37
Build 36826,258,732 - 26,258,858RGDNCBI36
Celera825,165,198 - 25,165,324RGD
Cytogenetic Map8p21.2UniSTS
HuRef824,747,736 - 24,747,862UniSTS
GeneMap99-G3 RH Map81295.0UniSTS
STS-M64929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,227,934 - 26,228,137UniSTSGRCh37
Build 36826,283,851 - 26,284,054RGDNCBI36
Celera825,190,317 - 25,190,520RGD
Cytogenetic Map8p21.2UniSTS
HuRef824,772,853 - 24,773,056UniSTS
GeneMap99-GB4 RH Map8102.96UniSTS
NCBI RH Map8318.8UniSTS
MARC_23873-23874:1028298899:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,220,250 - 26,221,330UniSTSGRCh37
Celera825,182,633 - 25,183,713UniSTS
HuRef824,765,168 - 24,766,248UniSTS
Ppp2r2a  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,094,071 - 1,094,788UniSTSGRCh37
Celera41,028,514 - 1,029,224UniSTS
HuRef41,063,938 - 1,064,648UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR222hsa-miR-222-3pMirecordsexternal_infoNANA20103675
MIR222hsa-miR-222-3pOncomiRDBexternal_infoNANA21656127
MIR222hsa-miR-222-3pOncomiRDBexternal_infoNANA20103675
MIR31hsa-miR-31-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assayFunctional MTI20237410
MIR222hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20103675
MIR222hsa-miR-222-3pMirtarbaseexternal_infoReporter assay;Western blotFunctional MTI21656127
MIR222hsa-miR-222-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3028
Count of miRNA genes:928
Interacting mature miRNAs:1137
Transcripts:ENST00000315985, ENST00000380737, ENST00000517754, ENST00000518208, ENST00000518215, ENST00000518254, ENST00000518397, ENST00000518890, ENST00000519439, ENST00000519636, ENST00000520329, ENST00000520438, ENST00000521095, ENST00000521484, ENST00000521557, ENST00000522150, ENST00000522482, ENST00000522535, ENST00000523473, ENST00000523925, ENST00000523964, ENST00000524099, ENST00000524169
Prediction methods: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
Medium 2279 2391 1325 273 1717 120 4326 1926 2978 285 1422 1597 166 1202 2760 4
Low 159 595 399 351 234 344 30 270 744 132 31 16 8 2 28 1 2
Below cutoff 1 2 1 10 2 7 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001177591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI814790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY189686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX440554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB451813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000315985   ⟹   ENSP00000325074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,293,216 - 26,370,886 (+)Ensembl
RefSeq Acc Id: ENST00000380737   ⟹   ENSP00000370113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,291,508 - 26,372,680 (+)Ensembl
RefSeq Acc Id: ENST00000517754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,361,090 - 26,371,129 (+)Ensembl
RefSeq Acc Id: ENST00000518208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,365,098 - 26,370,314 (+)Ensembl
RefSeq Acc Id: ENST00000518215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,354,419 - 26,370,363 (+)Ensembl
RefSeq Acc Id: ENST00000518254   ⟹   ENSP00000428164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,291,528 - 26,354,630 (+)Ensembl
RefSeq Acc Id: ENST00000518397   ⟹   ENSP00000429279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,291,614 - 26,361,012 (+)Ensembl
RefSeq Acc Id: ENST00000518890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,360,600 - 26,370,391 (+)Ensembl
RefSeq Acc Id: ENST00000519439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,293,572 - 26,361,085 (+)Ensembl
RefSeq Acc Id: ENST00000519636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,293,216 - 26,360,182 (+)Ensembl
RefSeq Acc Id: ENST00000520329   ⟹   ENSP00000428542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,291,528 - 26,360,281 (+)Ensembl
RefSeq Acc Id: ENST00000521095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,292,119 - 26,354,550 (+)Ensembl
RefSeq Acc Id: ENST00000521484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,293,590 - 26,360,238 (+)Ensembl
RefSeq Acc Id: ENST00000521557   ⟹   ENSP00000428165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,293,483 - 26,361,033 (+)Ensembl
RefSeq Acc Id: ENST00000522150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,292,113 - 26,339,973 (+)Ensembl
RefSeq Acc Id: ENST00000522482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,293,217 - 26,354,637 (+)Ensembl
RefSeq Acc Id: ENST00000522535   ⟹   ENSP00000428705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,291,835 - 26,361,001 (+)Ensembl
RefSeq Acc Id: ENST00000523473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,292,117 - 26,339,973 (+)Ensembl
RefSeq Acc Id: ENST00000523925   ⟹   ENSP00000428800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,293,112 - 26,361,007 (+)Ensembl
RefSeq Acc Id: ENST00000523964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,298,575 - 26,361,044 (+)Ensembl
RefSeq Acc Id: ENST00000524099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,293,206 - 26,360,237 (+)Ensembl
RefSeq Acc Id: ENST00000524169   ⟹   ENSP00000430320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,291,539 - 26,370,324 (+)Ensembl
RefSeq Acc Id: ENST00000657943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,325,293 - 26,370,834 (+)Ensembl
RefSeq Acc Id: ENST00000660435   ⟹   ENSP00000499441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,292,285 - 26,370,976 (+)Ensembl
RefSeq Acc Id: ENST00000665751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,360,457 - 26,371,130 (+)Ensembl
RefSeq Acc Id: ENST00000665949   ⟹   ENSP00000499648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,291,982 - 26,371,011 (+)Ensembl
RefSeq Acc Id: ENST00000666129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,353,811 - 26,371,074 (+)Ensembl
RefSeq Acc Id: ENST00000667651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,304,534 - 26,371,096 (+)Ensembl
RefSeq Acc Id: NM_001177591   ⟹   NP_001171062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,293,216 - 26,372,680 (+)NCBI
GRCh37826,149,007 - 26,230,196 (+)ENTREZGENE
HuRef824,693,626 - 24,775,115 (+)ENTREZGENE
CHM1_1826,352,327 - 26,431,783 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002717   ⟹   NP_002708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,291,508 - 26,372,680 (+)NCBI
GRCh37826,149,007 - 26,230,196 (+)ENTREZGENE
Build 36826,204,951 - 26,284,563 (+)NCBI Archive
HuRef824,693,626 - 24,775,115 (+)ENTREZGENE
CHM1_1826,350,602 - 26,431,783 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273559   ⟹   XP_005273616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,291,523 - 26,371,133 (+)NCBI
GRCh37826,149,007 - 26,230,196 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273560   ⟹   XP_005273617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,291,528 - 26,371,133 (+)NCBI
GRCh37826,149,007 - 26,230,196 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544565   ⟹   XP_011542867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,292,589 - 26,371,133 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544566   ⟹   XP_011542868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,292,119 - 26,371,133 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544567   ⟹   XP_011542869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,291,523 - 26,371,133 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544568   ⟹   XP_011542870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,292,127 - 26,371,133 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544569   ⟹   XP_011542871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,298,575 - 26,371,133 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447186   ⟹   XP_024302954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,291,528 - 26,371,133 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447187   ⟹   XP_024302955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,291,528 - 26,371,133 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956638
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,291,523 - 26,372,171 (+)NCBI
Sequence:
RefSeq Acc Id: XR_949430
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,292,589 - 26,372,171 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002708   ⟸   NM_002717
- Peptide Label: isoform 1
- UniProtKB: P63151 (UniProtKB/Swiss-Prot),   A0A140VJT0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171062   ⟸   NM_001177591
- Peptide Label: isoform 2
- UniProtKB: P63151 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273616   ⟸   XM_005273559
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005273617   ⟸   XM_005273560
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542869   ⟸   XM_011544567
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542868   ⟸   XM_011544566
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542870   ⟸   XM_011544568
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542867   ⟸   XM_011544565
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542871   ⟸   XM_011544569
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024302954   ⟸   XM_024447186
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024302955   ⟸   XM_024447187
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000499441   ⟸   ENST00000660435
RefSeq Acc Id: ENSP00000429279   ⟸   ENST00000518397
RefSeq Acc Id: ENSP00000428164   ⟸   ENST00000518254
RefSeq Acc Id: ENSP00000499648   ⟸   ENST00000665949
RefSeq Acc Id: ENSP00000428542   ⟸   ENST00000520329
RefSeq Acc Id: ENSP00000428165   ⟸   ENST00000521557
RefSeq Acc Id: ENSP00000428705   ⟸   ENST00000522535
RefSeq Acc Id: ENSP00000428800   ⟸   ENST00000523925
RefSeq Acc Id: ENSP00000430320   ⟸   ENST00000524169
RefSeq Acc Id: ENSP00000325074   ⟸   ENST00000315985
RefSeq Acc Id: ENSP00000370113   ⟸   ENST00000380737

Promoters
RGD ID:6806958
Promoter ID:HG_KWN:60971
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002717
Position:
Human AssemblyChrPosition (strand)Source
Build 36826,204,606 - 26,205,106 (+)MPROMDB
RGD ID:6806955
Promoter ID:HG_KWN:60972
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001177591
Position:
Human AssemblyChrPosition (strand)Source
Build 36826,206,144 - 26,206,644 (+)MPROMDB
RGD ID:7212921
Promoter ID:EPDNEW_H12206
Type:initiation region
Name:PPP2R2A_1
Description:protein phosphatase 2 regulatory subunit Balpha
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
GRCh38826,291,528 - 26,291,588EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p21.2(chr8:24948124-26895609)x1 copy number loss not provided [RCV000683016] Chr8:24948124..26895609 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9304 AgrOrtholog
COSMIC PPP2R2A COSMIC
Ensembl Genes ENSG00000221914 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000325074 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370113 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428164 UniProtKB/TrEMBL
  ENSP00000428165 UniProtKB/TrEMBL
  ENSP00000428542 UniProtKB/TrEMBL
  ENSP00000429279 UniProtKB/TrEMBL
  ENSP00000430320 UniProtKB/TrEMBL
  ENSP00000499441 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000499648 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000315985 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380737 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518254 UniProtKB/TrEMBL
  ENST00000518397 UniProtKB/TrEMBL
  ENST00000520329 UniProtKB/TrEMBL
  ENST00000521557 UniProtKB/TrEMBL
  ENST00000524169 UniProtKB/TrEMBL
  ENST00000660435 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000665949 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000667651 ENTREZGENE
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000221914 GTEx
HGNC ID HGNC:9304 ENTREZGENE
Human Proteome Map PPP2R2A Human Proteome Map
InterPro PP2A_PR55 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2A_PR55_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5520 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5520 ENTREZGENE
OMIM 604941 OMIM
PANTHER PTHR11871 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33668 PharmGKB
PIRSF PP2A_PR55 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PP2APR55 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PR55_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PR55_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 2ABA_HUMAN UniProtKB/Swiss-Prot
  A0A140VJT0 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJJ1_HUMAN UniProtKB/TrEMBL
  A0A590UJY3_HUMAN UniProtKB/TrEMBL
  E5RFR9_HUMAN UniProtKB/TrEMBL
  E5RHQ2_HUMAN UniProtKB/TrEMBL
  E5RIY1_HUMAN UniProtKB/TrEMBL
  E5RJV1_HUMAN UniProtKB/TrEMBL
  E5RJV2_HUMAN UniProtKB/TrEMBL
  P63151 ENTREZGENE
UniProt Secondary B2RBU8 UniProtKB/Swiss-Prot
  B4E1T7 UniProtKB/Swiss-Prot
  P50409 UniProtKB/Swiss-Prot
  Q00007 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 PPP2R2A  protein phosphatase 2 regulatory subunit Balpha  PPP2R2A  protein phosphatase 2 regulatory subunit B, alpha  Symbol and/or name change 5135510 APPROVED
2015-11-24 PPP2R2A  protein phosphatase 2 regulatory subunit B, alpha  PPP2R2A  protein phosphatase 2, regulatory subunit B, alpha  Symbol and/or name change 5135510 APPROVED
2011-07-27 PPP2R2A  protein phosphatase 2, regulatory subunit B, alpha  PPP2R2A  protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform  Symbol and/or name change 5135510 APPROVED