PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta) Homo sapiens
Analyze
Symbol: PPP2R2B
Name: protein phosphatase 2 regulatory subunit Bbeta
RGD ID: 1352838
HGNC Page HGNC:9305
Description: Predicted to enable protein phosphatase regulator activity. Predicted to be involved in positive regulation of neuron apoptotic process. Predicted to be located in mitochondrial outer membrane. Predicted to be part of protein phosphatase type 2A complex. Predicted to be active in cytosol. Implicated in Alzheimer's disease; brain disease; breast cancer; and spinocerebellar ataxia type 12. Biomarker of systemic lupus erythematosus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B55-BETA; B55BETA; FLJ95686; MGC24888; PP2A subunit B isoform B55-beta; PP2A subunit B isoform PR55-beta; PP2A subunit B isoform R2-beta; PP2A, subunit B, B-beta isoform; PP2A-B55BETA; PP2A-PR55B; PP2AB-BETA; PP2AB55BETA; PP2ABBETA; PP2APR55-BETA; PP2APR55B; PP2APR55BETA; PR2AB-BETA; PR2AB55-BETA; PR2AB55BETA; PR2ABBETA; PR2APR55-BETA; PR2APR55BETA; PR52B; PR55-BETA; PR55BETA; protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform; protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform; SCA12; serine/threonine protein phosphatase 2A, 55 kDa regulatory subunit B, beta isoform; serine/threonine protein phosphatase 2A, neuronal isoform; serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385146,580,742 - 147,081,520 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5146,580,742 - 147,084,784 (-)EnsemblGRCh38hg38GRCh38
GRCh375145,960,305 - 146,461,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365145,949,260 - 146,441,207 (-)NCBINCBI36Build 36hg18NCBI36
Build 345145,949,261 - 146,441,207NCBI
Celera5142,050,506 - 142,543,249 (-)NCBICelera
Cytogenetic Map5q32NCBI
HuRef5141,115,900 - 141,608,335 (-)NCBIHuRef
CHM1_15145,401,722 - 145,893,553 (-)NCBICHM1_1
T2T-CHM13v2.05147,116,637 - 147,617,597 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-nitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A5  (EXP)
bromochloroacetic acid  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corticosterone  (ISO)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gamma-hexachlorocyclohexane  (ISO)
genistein  (EXP)
gentamycin  (ISO)
GW 4064  (ISO)
inulin  (ISO)
ketoconazole  (ISO)
Lasiocarpine  (EXP)
lead(0)  (EXP)
LY294002  (EXP)
melphalan  (EXP)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nevirapine  (ISO)
niclosamide  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
O-methyleugenol  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium fluoride  (ISO)
staurosporine  (ISO)
sulforaphane  (EXP)
temozolomide  (EXP)
triadimefon  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
tunicamycin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia. Brussino A, etal., Mov Disord. 2010 Jul 15;25(9):1269-73.
2. Induction of PP2A Bbeta, a regulator of IL-2 deprivation-induced T-cell apoptosis, is deficient in systemic lupus erythematosus. Crispin JC, etal., Proc Natl Acad Sci U S A. 2011 Jul 26;108(30):12443-8. Epub 2011 Jul 11.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Association between CAG repeat length in the PPP2R2B gene and Alzheimer disease in the Japanese population. Kimura R, etal., Neurosci Lett. 2011 Jan 10;487(3):354-7. Epub 2010 Oct 26.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. A genetic variant in a PP2A regulatory subunit encoded by the PPP2R2B gene associates with altered breast cancer risk and recurrence. Vazquez A, etal., Int J Cancer. 2011 May 15;128(10):2335-43. doi: 10.1002/ijc.25582.
12. Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12). Wang YC, etal., J Biol Chem. 2011 Jun 17;286(24):21742-54. Epub 2011 Apr 6.
Additional References at PubMed
PMID:1849734   PMID:8348150   PMID:9013886   PMID:9400615   PMID:9514514   PMID:10322434   PMID:10581021   PMID:11198281   PMID:11531413   PMID:11723136   PMID:11956189   PMID:11983168  
PMID:12058047   PMID:12140678   PMID:12477932   PMID:12497613   PMID:12549820   PMID:12912990   PMID:14702039   PMID:14960773   PMID:15148151   PMID:15342556   PMID:15380617   PMID:15489334  
PMID:15578586   PMID:15638722   PMID:15761153   PMID:15780175   PMID:15817944   PMID:16041367   PMID:16048649   PMID:16054804   PMID:16109716   PMID:16126728   PMID:16138911   PMID:16245300  
PMID:16286244   PMID:16344560   PMID:16475161   PMID:16596250   PMID:17110338   PMID:17123511   PMID:17148452   PMID:17245428   PMID:17245430   PMID:17266553   PMID:17274953   PMID:17529992  
PMID:17903297   PMID:18484086   PMID:18519826   PMID:18653458   PMID:18971272   PMID:18973067   PMID:19156129   PMID:19235102   PMID:19259763   PMID:19581569   PMID:19913121   PMID:20017961  
PMID:20056007   PMID:20237496   PMID:20301317   PMID:20301381   PMID:20338046   PMID:20379614   PMID:20533062   PMID:20628086   PMID:20920535   PMID:20937954   PMID:21072166   PMID:21075311  
PMID:21351466   PMID:21827912   PMID:21873635   PMID:22337773   PMID:22422068   PMID:22583914   PMID:23034890   PMID:23135275   PMID:23287597   PMID:23381641   PMID:23453885   PMID:24157919  
PMID:24244166   PMID:24391510   PMID:24509904   PMID:24676687   PMID:25082878   PMID:25634432   PMID:25816751   PMID:25963833   PMID:26002199   PMID:26186194   PMID:26194112   PMID:26344197  
PMID:26496610   PMID:26618866   PMID:26638075   PMID:26653855   PMID:27350687   PMID:27432908   PMID:27864267   PMID:28330616   PMID:28514442   PMID:29117863   PMID:29275362   PMID:30927017  
PMID:31067491   PMID:31182584   PMID:31335320   PMID:31494926   PMID:31742892   PMID:32807901   PMID:32814053   PMID:33208750   PMID:33961781   PMID:34349018   PMID:35256949   PMID:35384245  
PMID:36273042   PMID:36538041   PMID:36634849   PMID:37735923   PMID:38409085  


Genomics

Comparative Map Data
PPP2R2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385146,580,742 - 147,081,520 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5146,580,742 - 147,084,784 (-)EnsemblGRCh38hg38GRCh38
GRCh375145,960,305 - 146,461,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365145,949,260 - 146,441,207 (-)NCBINCBI36Build 36hg18NCBI36
Build 345145,949,261 - 146,441,207NCBI
Celera5142,050,506 - 142,543,249 (-)NCBICelera
Cytogenetic Map5q32NCBI
HuRef5141,115,900 - 141,608,335 (-)NCBIHuRef
CHM1_15145,401,722 - 145,893,553 (-)NCBICHM1_1
T2T-CHM13v2.05147,116,637 - 147,617,597 (-)NCBIT2T-CHM13v2.0
Ppp2r2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391842,777,811 - 43,192,827 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1842,770,497 - 43,216,192 (-)EnsemblGRCm39 Ensembl
GRCm381842,645,207 - 43,059,471 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1842,637,432 - 43,059,471 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1842,637,432 - 43,083,127 (-)EnsemblGRCm38mm10GRCm38
MGSCv371842,804,923 - 43,219,125 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361842,771,242 - 43,184,802 (-)NCBIMGSCv36mm8
Celera1844,014,172 - 44,430,759 (-)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1822.75NCBI
Ppp2r2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81834,904,686 - 35,357,299 (-)NCBIGRCr8
mRatBN7.21834,653,716 - 35,080,889 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1834,653,721 - 35,081,025 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1834,757,854 - 35,184,717 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01835,476,177 - 35,903,042 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01834,853,095 - 35,279,989 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01836,985,709 - 37,421,383 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1836,985,714 - 37,245,809 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01836,647,298 - 37,076,455 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41835,865,837 - 36,318,308 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11835,901,503 - 36,179,323 (-)NCBI
Celera1834,248,471 - 34,670,726 (-)NCBICelera
Cytogenetic Map18p11NCBI
Ppp2r2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554157,090,671 - 7,511,995 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554157,054,296 - 7,510,179 (+)NCBIChiLan1.0ChiLan1.0
PPP2R2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24141,841,949 - 142,325,863 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15139,981,500 - 140,465,413 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05142,037,831 - 142,521,655 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15148,050,581 - 148,533,583 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5148,050,581 - 148,533,329 (-)Ensemblpanpan1.1panPan2
PPP2R2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1241,005,259 - 41,447,048 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl241,005,644 - 41,459,878 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha238,048,790 - 38,488,981 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0241,461,404 - 41,901,150 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl241,461,411 - 41,901,167 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1238,535,055 - 38,978,764 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0239,344,752 - 39,785,267 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0240,170,245 - 40,610,151 (-)NCBIUU_Cfam_GSD_1.0
Ppp2r2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213146,081,945 - 146,522,525 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365047,656,298 - 8,097,276 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365047,655,924 - 8,097,125 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP2R2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2147,937,442 - 148,411,731 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12147,938,074 - 148,422,825 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22154,429,929 - 154,517,148 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPP2R2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12349,164,026 - 49,645,347 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603428,133,756 - 28,621,365 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppp2r2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247746,078,905 - 6,539,289 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247746,081,818 - 6,539,226 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPP2R2B
63 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)]) microsatellite Spinocerebellar ataxia type 12 [RCV000005966] Chr5:146878729..146878731 [GRCh38]
Chr5:146258292..146258294 [GRCh37]
Chr5:5q32		 pathogenic|benign
NM_181678.2(PPP2R2B):c.37+71073A>G single nucleotide variant Lung cancer [RCV000095373] Chr5:146785426 [GRCh38]
Chr5:146164989 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_181676.2(PPP2R2B):c.10T>C (p.Phe4Leu) single nucleotide variant Malignant melanoma [RCV000066762] Chr5:147055734 [GRCh38]
Chr5:146435297 [GRCh37]
Chr5:146415490 [NCBI36]
Chr5:5q32		 not provided
NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val) single nucleotide variant Spinocerebellar ataxia type 12 [RCV000662078] Chr5:146701094 [GRCh38]
Chr5:146080657 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.3(PPP2R2B):c.27[15] (p.Ser10[15]) microsatellite PPP2R2B-related disorder [RCV004553108]|not specified [RCV000203056] Chr5:146878727..146878728 [GRCh38]
Chr5:146258290..146258291 [GRCh37]
Chr5:5q32		 benign|uncertain significance
GRCh38/hg38 5q32(chr5:145197355-148541511)x1 copy number loss See cases [RCV000136679] Chr5:145197355..148541511 [GRCh38]
Chr5:144576918..147921074 [GRCh37]
Chr5:144557111..147901267 [NCBI36]
Chr5:5q32		 pathogenic
GRCh38/hg38 5q32(chr5:146799840-147408423)x3 copy number gain See cases [RCV000138048] Chr5:146799840..147408423 [GRCh38]
Chr5:146179403..146787986 [GRCh37]
Chr5:146159596..146768179 [NCBI36]
Chr5:5q32		 likely benign
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3 copy number gain See cases [RCV000139504] Chr5:141089988..149530678 [GRCh38]
Chr5:140469572..148910241 [GRCh37]
Chr5:140449756..148890434 [NCBI36]
Chr5:5q31.3-32		 pathogenic
NM_181674.3(PPP2R2B):c.75-562AGC[17] microsatellite not provided [RCV000513774] Chr5:146878727..146878728 [GRCh38]
Chr5:146258290..146258291 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.4(PPP2R2B):c.-84del deletion not specified [RCV000238805] Chr5:146878155 [GRCh38]
Chr5:146257718 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.941G>A (p.Arg314His) single nucleotide variant not specified [RCV004311617] Chr5:146600310 [GRCh38]
Chr5:145979873 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_181675.4(PPP2R2B):c.1190G>C (p.Gly397Ala) single nucleotide variant not provided [RCV000437543] Chr5:146590089 [GRCh38]
Chr5:145969652 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
NM_181675.4(PPP2R2B):c.328A>G (p.Thr110Ala) single nucleotide variant PPP2R2B-related disorder [RCV001249300]|not provided [RCV000484495] Chr5:146697985 [GRCh38]
Chr5:146077548 [GRCh37]
Chr5:5q32		 uncertain significance|not provided
GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1 copy number loss See cases [RCV000510497] Chr5:141113273..149154835 [GRCh37]
Chr5:5q31.3-32		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_181675.4(PPP2R2B):c.1154G>A (p.Arg385Gln) single nucleotide variant not specified [RCV004304652] Chr5:146590125 [GRCh38]
Chr5:145969688 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.614A>G (p.Asn205Ser) single nucleotide variant not specified [RCV004302596] Chr5:146650558 [GRCh38]
Chr5:146030121 [GRCh37]
Chr5:5q32		 uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_181675.4(PPP2R2B):c.1218C>T (p.Val406=) single nucleotide variant not provided [RCV003312634] Chr5:146590061 [GRCh38]
Chr5:145969624 [GRCh37]
Chr5:5q32		 likely benign
NM_181674.3(PPP2R2B):c.75-562AGC[9] microsatellite PPP2R2B-related disorder [RCV004554492] Chr5:146878728..146878730 [GRCh38]
Chr5:146258291..146258293 [GRCh37]
Chr5:5q32		 benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_181675.4(PPP2R2B):c.707A>G (p.Asn236Ser) single nucleotide variant not provided [RCV000762169] Chr5:146638334 [GRCh38]
Chr5:146017897 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.413G>A (p.Arg138Gln) single nucleotide variant not provided [RCV003314810] Chr5:146691162 [GRCh38]
Chr5:146070725 [GRCh37]
Chr5:5q32		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_181675.4(PPP2R2B):c.1213A>C (p.Ser405Arg) single nucleotide variant not provided [RCV000998452]|not specified [RCV004030240] Chr5:146590066 [GRCh38]
Chr5:145969629 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181677.2(PPP2R2B):c.-62-20439G>C single nucleotide variant not provided [RCV000998453] Chr5:147055679 [GRCh38]
Chr5:146435242 [GRCh37]
Chr5:5q32		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787435] Chr5:144027815..146077337 [GRCh37]
Chr5:5q31.3-32		 uncertain significance
GRCh37/hg19 5q32(chr5:146459722-146563206)x1 copy number loss not provided [RCV000846307] Chr5:146459722..146563206 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3 copy number gain not provided [RCV000848228] Chr5:140424333..148985999 [GRCh37]
Chr5:5q31.3-32		 uncertain significance
GRCh37/hg19 5q32(chr5:146169510-146808540)x3 copy number gain not provided [RCV000849606] Chr5:146169510..146808540 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.212G>T (p.Ser71Ile) single nucleotide variant not specified [RCV004305165] Chr5:146698101 [GRCh38]
Chr5:146077664 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.334+16G>A single nucleotide variant not provided [RCV001686893] Chr5:146697963 [GRCh38]
Chr5:146077526 [GRCh37]
Chr5:5q32		 benign
NM_181675.4(PPP2R2B):c.571G>T (p.Ala191Ser) single nucleotide variant PPP2R2B-related disorder [RCV004548197]|not provided [RCV001354624] Chr5:146650601 [GRCh38]
Chr5:146030164 [GRCh37]
Chr5:5q32		 likely benign
NM_181674.3(PPP2R2B):c.75-562AGC[4] microsatellite not provided [RCV001358234] Chr5:146878728..146878745 [GRCh38]
Chr5:146258291..146258308 [GRCh37]
Chr5:5q32		 benign|uncertain significance
NM_181675.4(PPP2R2B):c.70+21504G>A single nucleotide variant Spinocerebellar ataxia type 12 [RCV001335587] Chr5:146856498 [GRCh38]
Chr5:146236061 [GRCh37]
Chr5:5q32		 pathogenic
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu) single nucleotide variant Neurodevelopmental disorder [RCV001731217] Chr5:146600311 [GRCh38]
Chr5:145979874 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181677.2(PPP2R2B):c.-130A>T single nucleotide variant not provided [RCV002276139] Chr5:147081126 [GRCh38]
Chr5:146460689 [GRCh37]
Chr5:5q32		 benign|likely benign
NM_181675.4(PPP2R2B):c.930C>A (p.Asn310Lys) single nucleotide variant Neurodevelopmental disorder [RCV001771833] Chr5:146600321 [GRCh38]
Chr5:145979884 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.196G>T (p.Glu66Ter) single nucleotide variant not provided [RCV001774465] Chr5:146698117 [GRCh38]
Chr5:146077680 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.70+21510G>A single nucleotide variant not provided [RCV001816408] Chr5:146856492 [GRCh38]
Chr5:146236055 [GRCh37]
Chr5:5q32		 likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5q32(chr5:146455303-146565410)x1 copy number loss not provided [RCV001834212] Chr5:146455303..146565410 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.447+1G>A single nucleotide variant not provided [RCV002278870] Chr5:146691127 [GRCh38]
Chr5:146070690 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.737C>A (p.Thr246Lys) single nucleotide variant Spinocerebellar ataxia type 12 [RCV002294571] Chr5:146638304 [GRCh38]
Chr5:146017867 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.150A>G (p.Ile50Met) single nucleotide variant PPP2R2B-related disorder [RCV004548262]|not provided [RCV002293131] Chr5:146701063 [GRCh38]
Chr5:146080626 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.4(PPP2R2B):c.1280T>C (p.Ile427Thr) single nucleotide variant Global developmental delay [RCV002292451] Chr5:146589999 [GRCh38]
Chr5:145969562 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.446G>C (p.Arg149Pro) single nucleotide variant not provided [RCV003230124] Chr5:146691129 [GRCh38]
Chr5:146070692 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.964C>A (p.His322Asn) single nucleotide variant not provided [RCV002306208] Chr5:146593059 [GRCh38]
Chr5:145972622 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.1185G>T (p.Val395=) single nucleotide variant not provided [RCV002512279] Chr5:146590094 [GRCh38]
Chr5:145969657 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.4(PPP2R2B):c.499G>A (p.Val167Ile) single nucleotide variant not specified [RCV004205779] Chr5:146650673 [GRCh38]
Chr5:146030236 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.1183G>T (p.Val395Leu) single nucleotide variant not specified [RCV004212290] Chr5:146590096 [GRCh38]
Chr5:145969659 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.803C>T (p.Pro268Leu) single nucleotide variant not specified [RCV004154597] Chr5:146600448 [GRCh38]
Chr5:145980011 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.488C>G (p.Thr163Ser) single nucleotide variant not specified [RCV004077930] Chr5:146650684 [GRCh38]
Chr5:146030247 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.490C>T (p.Pro164Ser) single nucleotide variant not specified [RCV004099124] Chr5:146650682 [GRCh38]
Chr5:146030245 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.175A>T (p.Asn59Tyr) single nucleotide variant not specified [RCV004137163] Chr5:146698138 [GRCh38]
Chr5:146077701 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.-84C>G single nucleotide variant not provided [RCV003223196] Chr5:146878155 [GRCh38]
Chr5:146257718 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.4(PPP2R2B):c.1046C>T (p.Ser349Leu) single nucleotide variant not specified [RCV004285371] Chr5:146592977 [GRCh38]
Chr5:145972540 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.446G>A (p.Arg149Gln) single nucleotide variant not provided [RCV003223195] Chr5:146691129 [GRCh38]
Chr5:146070692 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.812C>G (p.Pro271Arg) single nucleotide variant not specified [RCV004271218] Chr5:146600439 [GRCh38]
Chr5:145980002 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.1213A>G (p.Ser405Gly) single nucleotide variant not provided [RCV003427714]|not specified [RCV004288781] Chr5:146590066 [GRCh38]
Chr5:145969629 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.434T>G (p.Ile145Ser) single nucleotide variant not provided [RCV004590930] Chr5:146691141 [GRCh38]
Chr5:146070704 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.908C>T (p.Thr303Ile) single nucleotide variant not provided [RCV003332448] Chr5:146600343 [GRCh38]
Chr5:145979906 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.364G>A (p.Glu122Lys) single nucleotide variant not specified [RCV004339034] Chr5:146691211 [GRCh38]
Chr5:146070774 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh37/hg19 5q32(chr5:146046054-147156861)x1 copy number loss not provided [RCV003485483] Chr5:146046054..147156861 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.820A>G (p.Arg274Gly) single nucleotide variant not provided [RCV003443239] Chr5:146600431 [GRCh38]
Chr5:145979994 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181674.3(PPP2R2B):c.75-562AGC[19] microsatellite not provided [RCV003428663] Chr5:146878727..146878728 [GRCh38]
Chr5:146258290..146258291 [GRCh37]
Chr5:5q32		 benign
NM_181674.3(PPP2R2B):c.75-562AGC[12] microsatellite not provided [RCV003429872] Chr5:146878727..146878728 [GRCh38]
Chr5:146258290..146258291 [GRCh37]
Chr5:5q32		 benign
NM_181674.3(PPP2R2B):c.75-562AGC[11] microsatellite not provided [RCV003429871] Chr5:146878727..146878728 [GRCh38]
Chr5:146258290..146258291 [GRCh37]
Chr5:5q32		 benign
NM_181675.4(PPP2R2B):c.335-6C>T single nucleotide variant not provided [RCV003429870] Chr5:146691246 [GRCh38]
Chr5:146070809 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.4(PPP2R2B):c.1114G>C (p.Asp372His) single nucleotide variant not provided [RCV003441527] Chr5:146590165 [GRCh38]
Chr5:145969728 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1 copy number loss not specified [RCV003986541] Chr5:141566629..147240595 [GRCh37]
Chr5:5q31.3-32		 pathogenic
NM_181675.4(PPP2R2B):c.549C>T (p.Ser183=) single nucleotide variant PPP2R2B-related disorder [RCV004550841] Chr5:146650623 [GRCh38]
Chr5:146030186 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.3(PPP2R2B):c.40_57dup18 microsatellite PPP2R2B-related disorder [RCV004554573] Chr5:146878727..146878728 [GRCh38]
Chr5:146258290..146258291 [GRCh37]
Chr5:5q32		 benign
NM_181675.4(PPP2R2B):c.665C>T (p.Thr222Met) single nucleotide variant PPP2R2B-related disorder [RCV004552825] Chr5:146638376 [GRCh38]
Chr5:146017939 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.3(PPP2R2B):c.34_57dup24 microsatellite PPP2R2B-related disorder [RCV004550946] Chr5:146878727..146878728 [GRCh38]
Chr5:146258290..146258291 [GRCh37]
Chr5:5q32		 benign
NM_001271899.1(PPP2R2B):c.19A>T (p.Thr7Ser) single nucleotide variant PPP2R2B-related disorder [RCV004548938] Chr5:147081128 [GRCh38]
Chr5:146460691 [GRCh37]
Chr5:5q32		 benign
NM_181675.4(PPP2R2B):c.940C>T (p.Arg314Cys) single nucleotide variant not specified [RCV004510071] Chr5:146600311 [GRCh38]
Chr5:145979874 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.-248G>A single nucleotide variant PPP2R2B-related disorder [RCV004554558] Chr5:146878714 [GRCh38]
Chr5:146258277 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.4(PPP2R2B):c.910G>A (p.Val304Ile) single nucleotide variant not provided [RCV004546235] Chr5:146600341 [GRCh38]
Chr5:145979904 [GRCh37]
Chr5:5q32		 likely benign
NM_181675.4(PPP2R2B):c.133G>C (p.Gly45Arg) single nucleotide variant not provided [RCV004590885] Chr5:146701080 [GRCh38]
Chr5:146080643 [GRCh37]
Chr5:5q32		 uncertain significance
NM_181675.4(PPP2R2B):c.139C>G (p.Arg47Gly) single nucleotide variant not provided [RCV004772101] Chr5:146701074 [GRCh38]
Chr5:146080637 [GRCh37]
Chr5:5q32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5652
Count of miRNA genes:1158
Interacting mature miRNAs:1435
Transcripts:ENST00000336640, ENST00000356826, ENST00000394409, ENST00000394410, ENST00000394411, ENST00000394413, ENST00000394414, ENST00000453001, ENST00000502876, ENST00000504198, ENST00000504565, ENST00000508267, ENST00000508545, ENST00000509721, ENST00000512011, ENST00000512639, ENST00000512984, ENST00000515880, ENST00000520231, ENST00000522831, ENST00000528601, ENST00000530902, ENST00000532154
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407104384GWAS753360_Hmathematical ability QTL GWAS753360 (human)3e-08mathematical ability5147060244147060245Human
406902726GWAS551702_Hsusceptibility to chickenpox measurement QTL GWAS551702 (human)0.000007susceptibility to chickenpox measurement5146649532146649533Human
406952715GWAS601691_HCOVID-19 QTL GWAS601691 (human)0.000005COVID-195146636052146636053Human
406944589GWAS593565_Ht-tau measurement QTL GWAS593565 (human)1e-08t-tau measurement5146755646146755647Human
407281738GWAS930714_Hbody height QTL GWAS930714 (human)7e-13body height (VT:0001253)body height (CMO:0000106)5146658128146658129Human
407219979GWAS868955_HTakayasu arteritis QTL GWAS868955 (human)0.0000006Takayasu arteritis5146767857146767858Human
407033805GWAS682781_Hneuroticism measurement QTL GWAS682781 (human)4e-08mathematical ability5147056960147056961Human
407120918GWAS769894_Hchronotype measurement QTL GWAS769894 (human)2e-08chronotype measurement5147062083147062084Human
407129553GWAS778529_Halcohol dependence QTL GWAS778529 (human)0.000003alcohol dependence5146941260146941261Human
1357314AASTH54_HAllergic/atopic asthma related QTL 54 (human)3.560.0003Reversible airflow obstructiontotal serum IgE5135892246150155845Human
406961879GWAS610855_Hbreast cancer QTL GWAS610855 (human)8e-08breast cancer5146861414146861415Human
407223251GWAS872227_Hcytokine measurement QTL GWAS872227 (human)0.000002cytokine measurementblood cytokine measurement (CMO:0001924)5146739399146739400Human
407301531GWAS950507_Hschizophrenia QTL GWAS950507 (human)0.000005schizophrenia5146882926146882927Human
406998364GWAS647340_Hage at diagnosis, osteonecrosis QTL GWAS647340 (human)0.000003age at diagnosis, osteonecrosis5146653600146653601Human
407233626GWAS882602_Hbone density QTL GWAS882602 (human)4e-25bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)5146798172146798173Human
407273753GWAS922729_Hbody height QTL GWAS922729 (human)2e-12body height (VT:0001253)body height (CMO:0000106)5146745475146745476Human
407150565GWAS799541_Hschizophrenia QTL GWAS799541 (human)9e-09schizophrenia5147055600147055601Human
406905955GWAS554931_HRS-warfarin measurement QTL GWAS554931 (human)0.000008RS-warfarin measurement5146786375146786376Human
407227488GWAS876464_Hurate measurement QTL GWAS876464 (human)0.000004urate measurementblood uric acid level (CMO:0000501)5147081128147081129Human
407256419GWAS905395_Hbrain measurement QTL GWAS905395 (human)6e-10brain measurementbrain measurement (CMO:0000911)5146856070146856071Human
407026731GWAS675707_Hnon-alcoholic fatty liver disease, type 2 diabetes mellitus QTL GWAS675707 (human)4e-08non-alcoholic fatty liver disease, type 2 diabetes mellitus5146689762146689763Human
406901419GWAS550395_Hattention deficit hyperactivity disorder, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia QTL GWAS550395 (human)0.000002attention deficit hyperactivity disorder, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia5146845681146845682Human
407156905GWAS805881_Hschizophrenia QTL GWAS805881 (human)0.0000004schizophrenia5146882926146882927Human
407159338GWAS808314_HS-7-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS808314 (human)0.000002S-7-hydroxywarfarin to S-warfarin ratio measurement5146669355146669356Human
407315497GWAS964473_Hschizophrenia QTL GWAS964473 (human)0.0000003schizophrenia5146907282146907283Human
407219573GWAS868549_Hcytokine measurement QTL GWAS868549 (human)0.000006cytokine measurementblood cytokine measurement (CMO:0001924)5146881301146881302Human
407025715GWAS674691_Hneuropsychological test QTL GWAS674691 (human)0.000003neuropsychological test5147035653147035654Human
407056049GWAS705025_Hreaction time measurement QTL GWAS705025 (human)0.000006reaction time measurement5147068032147068033Human
407061942GWAS710918_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS710918 (human)4e-08obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa5146899328146899329Human
407314878GWAS963854_Hbilirubin measurement QTL GWAS963854 (human)0.0000009bilirubin measurementserum total bilirubin level (CMO:0000376)5147030063147030064Human
407201791GWAS850767_Hschizophrenia QTL GWAS850767 (human)6e-09schizophrenia5146866199146866200Human
406968575GWAS617551_Hsleep quality QTL GWAS617551 (human)0.000007sleep quality5147077310147077311Human
407044604GWAS693580_Hneuroticism measurement, cognitive function measurement QTL GWAS693580 (human)3e-08neuroticism measurement, cognitive function measurement5147056960147056961Human

Markers in Region
D5S638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,334,268 - 146,334,376UniSTSGRCh37
GRCh375146,334,258 - 146,334,394UniSTSGRCh37
Build 365146,314,461 - 146,314,569RGDNCBI36
Celera5142,416,174 - 142,416,310UniSTS
Celera5142,416,184 - 142,416,292RGD
Cytogenetic Map5q31.1-q32UniSTS
Cytogenetic Map5q32UniSTS
HuRef5141,481,220 - 141,481,334UniSTS
HuRef5141,481,210 - 141,481,352UniSTS
Marshfield Genetic Map5148.63RGD
Genethon Genetic Map5146.6UniSTS
TNG Radiation Hybrid Map568244.0UniSTS
deCODE Assembly Map5148.82UniSTS
Stanford-G3 RH Map55355.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5891.6UniSTS
GeneMap99-G3 RH Map55443.0UniSTS
SGC30734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,242,274 - 146,242,401UniSTSGRCh37
Build 365146,222,467 - 146,222,594RGDNCBI36
Celera5142,324,171 - 142,324,298RGD
Cytogenetic Map5q32UniSTS
HuRef5141,388,960 - 141,389,085UniSTS
GeneMap99-GB4 RH Map5554.12UniSTS
Whitehead-RH Map5474.0UniSTS
NCBI RH Map5891.6UniSTS
STS-AA019131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,226,314 - 146,226,491UniSTSGRCh37
Build 365146,206,507 - 146,206,684RGDNCBI36
Celera5142,308,211 - 142,308,388RGD
Cytogenetic Map5q32UniSTS
HuRef5141,373,000 - 141,373,177UniSTS
GeneMap99-GB4 RH Map5554.71UniSTS
NCBI RH Map5891.6UniSTS
RH80301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,078,345 - 146,078,585UniSTSGRCh37
Build 365146,058,538 - 146,058,778RGDNCBI36
Celera5142,160,098 - 142,160,338RGD
Cytogenetic Map5q32UniSTS
HuRef5141,225,049 - 141,225,289UniSTS
RH80708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375145,968,731 - 145,968,955UniSTSGRCh37
Build 365145,948,924 - 145,949,148RGDNCBI36
Celera5142,050,170 - 142,050,394RGD
Cytogenetic Map5q32UniSTS
HuRef5141,115,564 - 141,115,788UniSTS
GeneMap99-GB4 RH Map5553.11UniSTS
SHGC-82104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,258,699 - 146,259,026UniSTSGRCh37
Build 365146,238,892 - 146,239,219RGDNCBI36
Celera5142,340,593 - 142,340,920RGD
Cytogenetic Map5q32UniSTS
HuRef5141,405,383 - 141,405,710UniSTS
TNG Radiation Hybrid Map1265096.0UniSTS
RH119128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,352,800 - 146,353,106UniSTSGRCh37
Build 365146,332,993 - 146,333,299RGDNCBI36
Celera5142,434,717 - 142,435,023RGD
Cytogenetic Map5q32UniSTS
HuRef5141,499,758 - 141,500,064UniSTS
TNG Radiation Hybrid Map568315.0UniSTS
D5S2206E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375145,998,593 - 145,998,691UniSTSGRCh37
Build 365145,978,786 - 145,978,884RGDNCBI36
Celera5142,080,033 - 142,080,131RGD
Cytogenetic Map5q32UniSTS
HuRef5141,145,426 - 141,145,524UniSTS
bac5401S  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,138,741 - 146,138,962UniSTSGRCh37
Build 365146,118,934 - 146,119,155RGDNCBI36
Celera5142,220,491 - 142,220,712RGD
Cytogenetic Map5q32UniSTS
HuRef5141,285,428 - 141,285,649UniSTS
bac5404S  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,382,311 - 146,382,429UniSTSGRCh37
Build 365146,362,504 - 146,362,622RGDNCBI36
Celera5142,464,519 - 142,464,637RGD
Cytogenetic Map5q32UniSTS
HuRef5141,529,572 - 141,529,690UniSTS
SHGC-145349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,276,258 - 146,276,600UniSTSGRCh37
Build 365146,256,451 - 146,256,793RGDNCBI36
Celera5142,358,158 - 142,358,500RGD
Cytogenetic Map5q32UniSTS
HuRef5141,422,938 - 141,423,280UniSTS
TNG Radiation Hybrid Map568202.0UniSTS
D5S1869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,301,260 - 146,301,537UniSTSGRCh37
Build 365146,281,453 - 146,281,730RGDNCBI36
Celera5142,383,177 - 142,383,454RGD
Cytogenetic Map5q32UniSTS
HuRef5141,448,233 - 141,448,510UniSTS
Whitehead-YAC Contig Map5 UniSTS
WI-20015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375145,968,171 - 145,968,422UniSTSGRCh37
Build 365145,948,364 - 145,948,615RGDNCBI36
Celera5142,049,610 - 142,049,861RGD
Cytogenetic Map5q32UniSTS
HuRef5141,115,004 - 141,115,255UniSTS
GeneMap99-GB4 RH Map5552.16UniSTS
Whitehead-RH Map5472.5UniSTS
NCBI RH Map5891.6UniSTS
G16900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,273,792 - 146,273,942UniSTSGRCh37
Build 365146,253,985 - 146,254,135RGDNCBI36
Celera5142,355,691 - 142,355,841RGD
Cytogenetic Map5q32UniSTS
HuRef5141,420,472 - 141,420,622UniSTS
A052VD5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,180,369 - 146,180,590UniSTSGRCh37
Build 365146,160,562 - 146,160,783RGDNCBI36
Celera5142,262,089 - 142,262,310RGD
Cytogenetic Map5q32UniSTS
HuRef5141,327,017 - 141,327,238UniSTS
SGC38142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,288,104 - 146,288,307UniSTSGRCh37
Build 365146,268,297 - 146,268,500RGDNCBI36
Celera5142,370,016 - 142,370,219RGD
Cytogenetic Map5q32UniSTS
HuRef5141,435,071 - 141,435,274UniSTS
GeneMap99-GB4 RH Map5554.65UniSTS
Whitehead-RH Map5474.0UniSTS
NCBI RH Map5891.6UniSTS
SHGC-53523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,361,099 - 146,361,334UniSTSGRCh37
Build 365146,341,292 - 146,341,527RGDNCBI36
Celera5142,443,017 - 142,443,252RGD
Cytogenetic Map5q32UniSTS
HuRef5141,508,061 - 141,508,296UniSTS
TNG Radiation Hybrid Map568278.0UniSTS
H5SKB.DN-5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,120,076 - 146,120,408UniSTSGRCh37
Build 365146,100,269 - 146,100,601RGDNCBI36
Celera5142,201,829 - 142,202,161RGD
Cytogenetic Map5q32UniSTS
HuRef5141,266,779 - 141,267,103UniSTS
PPP2R2B__3310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375145,968,954 - 145,969,771UniSTSGRCh37
Build 365145,949,147 - 145,949,964RGDNCBI36
Celera5142,050,393 - 142,051,210RGD
HuRef5141,115,787 - 141,116,604UniSTS
Dm0468  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef5141,259,981 - 141,260,147UniSTS
HuRef1042,812,940 - 42,813,449UniSTS
L28362  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q32UniSTS
HuRef5141,348,768 - 141,348,972UniSTS
D5S638  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q32UniSTS
Marshfield Genetic Map5148.63UniSTS
Genethon Genetic Map5146.6UniSTS
deCODE Assembly Map5148.82UniSTS
Whitehead-YAC Contig Map5 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2333 2779 2221 4935 1689 2242 2 597 1396 438 2252 6595 5906 22 3714 808 1681 1537 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI621232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL540315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV726282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI669304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP195204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX464346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA155307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA158596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA365141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA522334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA523686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA533318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000336640   ⟹   ENSP00000336591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,589,511 - 147,055,974 (-)Ensembl
Ensembl Acc Id: ENST00000394409   ⟹   ENSP00000377931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,581,146 - 146,878,642 (-)Ensembl
Ensembl Acc Id: ENST00000394411   ⟹   ENSP00000377933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,580,742 - 146,878,757 (-)Ensembl
Ensembl Acc Id: ENST00000394413   ⟹   ENSP00000377935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,589,672 - 147,081,429 (-)Ensembl
Ensembl Acc Id: ENST00000394414   ⟹   ENSP00000377936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,589,504 - 147,056,027 (-)Ensembl
Ensembl Acc Id: ENST00000453001   ⟹   ENSP00000398779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,589,509 - 146,878,785 (-)Ensembl
Ensembl Acc Id: ENST00000502876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,698,061 - 146,922,527 (-)Ensembl
Ensembl Acc Id: ENST00000504198   ⟹   ENSP00000421396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,589,511 - 147,081,491 (-)Ensembl
Ensembl Acc Id: ENST00000504565   ⟹   ENSP00000425413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,701,072 - 147,081,293 (-)Ensembl
Ensembl Acc Id: ENST00000508267   ⟹   ENSP00000421224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,698,078 - 147,081,470 (-)Ensembl
Ensembl Acc Id: ENST00000508545   ⟹   ENSP00000431320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,589,504 - 146,922,576 (-)Ensembl
Ensembl Acc Id: ENST00000509721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,701,086 - 147,084,784 (-)Ensembl
Ensembl Acc Id: ENST00000512011   ⟹   ENSP00000424409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,698,029 - 147,055,931 (-)Ensembl
Ensembl Acc Id: ENST00000512639   ⟹   ENSP00000426599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,589,947 - 146,878,581 (-)Ensembl
Ensembl Acc Id: ENST00000512984   ⟹   ENSP00000425828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,590,038 - 146,600,376 (-)Ensembl
Ensembl Acc Id: ENST00000515880   ⟹   ENSP00000421577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,698,017 - 147,055,959 (-)Ensembl
Ensembl Acc Id: ENST00000520231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,751,222 - 146,922,522 (-)Ensembl
Ensembl Acc Id: ENST00000522831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,650,547 - 147,055,931 (-)Ensembl
Ensembl Acc Id: ENST00000528601   ⟹   ENSP00000433890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,691,214 - 146,879,170 (-)Ensembl
Ensembl Acc Id: ENST00000530902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,589,504 - 146,878,894 (-)Ensembl
Ensembl Acc Id: ENST00000532154   ⟹   ENSP00000434497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5146,698,040 - 146,878,785 (-)Ensembl
RefSeq Acc Id: NM_001271899   ⟹   NP_001258828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,589,504 - 147,081,520 (-)NCBI
HuRef5141,115,900 - 141,608,335 (-)NCBI
CHM1_15145,401,722 - 145,893,553 (-)NCBI
T2T-CHM13v2.05147,125,400 - 147,617,597 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271900   ⟹   NP_001258829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,580,742 - 147,081,434 (-)NCBI
HuRef5141,115,900 - 141,608,335 (-)NCBI
CHM1_15145,401,722 - 145,893,553 (-)NCBI
T2T-CHM13v2.05147,116,637 - 147,617,511 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271948   ⟹   NP_001258877
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,580,742 - 146,878,757 (-)NCBI
HuRef5141,115,900 - 141,608,335 (-)NCBI
CHM1_15145,401,722 - 145,690,792 (-)NCBI
T2T-CHM13v2.05147,116,637 - 147,414,763 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001428277   ⟹   NP_001415206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,580,742 - 146,878,757 (-)NCBI
T2T-CHM13v2.05147,116,637 - 147,414,763 (-)NCBI
RefSeq Acc Id: NM_001428279   ⟹   NP_001415208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,580,742 - 146,878,757 (-)NCBI
T2T-CHM13v2.05147,116,637 - 147,414,763 (-)NCBI
RefSeq Acc Id: NM_181674   ⟹   NP_858060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,580,742 - 147,055,961 (-)NCBI
GRCh375145,969,067 - 146,461,083 (-)NCBI
Build 365145,949,260 - 146,415,783 (-)NCBI Archive
HuRef5141,115,900 - 141,608,335 (-)NCBI
CHM1_15145,401,722 - 145,868,182 (-)NCBI
T2T-CHM13v2.05147,116,637 - 147,592,034 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181675   ⟹   NP_858061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,580,742 - 146,878,757 (-)NCBI
GRCh375145,969,067 - 146,461,083 (-)NCBI
Build 365145,949,260 - 146,238,501 (-)NCBI Archive
HuRef5141,115,900 - 141,608,335 (-)NCBI
CHM1_15145,401,722 - 145,690,792 (-)NCBI
T2T-CHM13v2.05147,116,637 - 147,414,763 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181676   ⟹   NP_858062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,580,742 - 147,055,961 (-)NCBI
GRCh375145,969,067 - 146,461,083 (-)NCBI
Build 365145,949,260 - 146,415,671 (-)NCBI Archive
HuRef5141,115,900 - 141,608,335 (-)NCBI
CHM1_15145,401,722 - 145,868,182 (-)NCBI
T2T-CHM13v2.05147,116,637 - 147,592,034 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181677   ⟹   NP_858063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,589,504 - 147,081,470 (-)NCBI
GRCh375145,969,067 - 146,461,083 (-)NCBI
Build 365145,949,260 - 146,441,207 (-)NCBI Archive
HuRef5141,115,900 - 141,608,335 (-)NCBI
CHM1_15145,401,722 - 145,893,503 (-)NCBI
T2T-CHM13v2.05147,125,400 - 147,617,547 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181678   ⟹   NP_858064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,589,504 - 147,081,470 (-)NCBI
GRCh375145,969,067 - 146,461,083 (-)NCBI
Build 365145,949,260 - 146,441,207 (-)NCBI Archive
HuRef5141,115,900 - 141,608,335 (-)NCBI
CHM1_15145,401,722 - 145,893,503 (-)NCBI
T2T-CHM13v2.05147,125,400 - 147,617,547 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001258828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258877 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415206 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415208 (Get FASTA)   NCBI Sequence Viewer  
  NP_858060 (Get FASTA)   NCBI Sequence Viewer  
  NP_858061 (Get FASTA)   NCBI Sequence Viewer  
  NP_858062 (Get FASTA)   NCBI Sequence Viewer  
  NP_858063 (Get FASTA)   NCBI Sequence Viewer  
  NP_858064 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36491 (Get FASTA)   NCBI Sequence Viewer  
  AAA36492 (Get FASTA)   NCBI Sequence Viewer  
  AAA36493 (Get FASTA)   NCBI Sequence Viewer  
  AAF74024 (Get FASTA)   NCBI Sequence Viewer  
  AAH31790 (Get FASTA)   NCBI Sequence Viewer  
  BAF82406 (Get FASTA)   NCBI Sequence Viewer  
  BAG51642 (Get FASTA)   NCBI Sequence Viewer  
  BAH11838 (Get FASTA)   NCBI Sequence Viewer  
  BAH12040 (Get FASTA)   NCBI Sequence Viewer  
  EAW61829 (Get FASTA)   NCBI Sequence Viewer  
  EAW61830 (Get FASTA)   NCBI Sequence Viewer  
  EAW61831 (Get FASTA)   NCBI Sequence Viewer  
  EAW61832 (Get FASTA)   NCBI Sequence Viewer  
  EAW61833 (Get FASTA)   NCBI Sequence Viewer  
  EAW61834 (Get FASTA)   NCBI Sequence Viewer  
  EAW61835 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000336591
  ENSP00000336591.6
  ENSP00000377931
  ENSP00000377931.4
  ENSP00000377933
  ENSP00000377933.3
  ENSP00000377935
  ENSP00000377935.4
  ENSP00000377936
  ENSP00000377936.1
  ENSP00000398779
  ENSP00000398779.2
  ENSP00000421224.1
  ENSP00000421396
  ENSP00000421396.1
  ENSP00000421577.1
  ENSP00000424409.1
  ENSP00000425413.1
  ENSP00000425828.1
  ENSP00000426599.1
  ENSP00000431320
  ENSP00000431320.1
  ENSP00000433890.1
  ENSP00000434497.1
GenBank Protein Q00005 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_858064   ⟸   NM_181678
- Peptide Label: isoform d
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_858063   ⟸   NM_181677
- Peptide Label: isoform c
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_858062   ⟸   NM_181676
- Peptide Label: isoform b
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_858060   ⟸   NM_181674
- Peptide Label: isoform a
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_858061   ⟸   NM_181675
- Peptide Label: isoform e
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot),   D3DQF8 (UniProtKB/Swiss-Prot),   D3DQF7 (UniProtKB/Swiss-Prot),   B7Z304 (UniProtKB/Swiss-Prot),   B7Z2F2 (UniProtKB/Swiss-Prot),   B3KPD0 (UniProtKB/Swiss-Prot),   A8K102 (UniProtKB/Swiss-Prot),   A6NEJ2 (UniProtKB/Swiss-Prot),   G3V149 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258828   ⟸   NM_001271899
- Peptide Label: isoform g
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258829   ⟸   NM_001271900
- Peptide Label: isoform f
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258877   ⟸   NM_001271948
- Peptide Label: isoform d
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000421396   ⟸   ENST00000504198
Ensembl Acc Id: ENSP00000425413   ⟸   ENST00000504565
Ensembl Acc Id: ENSP00000398779   ⟸   ENST00000453001
Ensembl Acc Id: ENSP00000336591   ⟸   ENST00000336640
Ensembl Acc Id: ENSP00000434497   ⟸   ENST00000532154
Ensembl Acc Id: ENSP00000421224   ⟸   ENST00000508267
Ensembl Acc Id: ENSP00000431320   ⟸   ENST00000508545
Ensembl Acc Id: ENSP00000426599   ⟸   ENST00000512639
Ensembl Acc Id: ENSP00000425828   ⟸   ENST00000512984
Ensembl Acc Id: ENSP00000424409   ⟸   ENST00000512011
Ensembl Acc Id: ENSP00000377931   ⟸   ENST00000394409
Ensembl Acc Id: ENSP00000377935   ⟸   ENST00000394413
Ensembl Acc Id: ENSP00000377936   ⟸   ENST00000394414
Ensembl Acc Id: ENSP00000377933   ⟸   ENST00000394411
Ensembl Acc Id: ENSP00000433890   ⟸   ENST00000528601
Ensembl Acc Id: ENSP00000421577   ⟸   ENST00000515880
RefSeq Acc Id: NP_001415208   ⟸   NM_001428279
- Peptide Label: isoform e
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot),   G3V149 (UniProtKB/Swiss-Prot),   D3DQF8 (UniProtKB/Swiss-Prot),   D3DQF7 (UniProtKB/Swiss-Prot),   B7Z304 (UniProtKB/Swiss-Prot),   B7Z2F2 (UniProtKB/Swiss-Prot),   B3KPD0 (UniProtKB/Swiss-Prot),   A8K102 (UniProtKB/Swiss-Prot),   A6NEJ2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001415206   ⟸   NM_001428277
- Peptide Label: isoform e
- UniProtKB: Q00005 (UniProtKB/Swiss-Prot),   G3V149 (UniProtKB/Swiss-Prot),   D3DQF8 (UniProtKB/Swiss-Prot),   D3DQF7 (UniProtKB/Swiss-Prot),   B7Z304 (UniProtKB/Swiss-Prot),   B7Z2F2 (UniProtKB/Swiss-Prot),   B3KPD0 (UniProtKB/Swiss-Prot),   A8K102 (UniProtKB/Swiss-Prot),   A6NEJ2 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00005-F1-model_v2 AlphaFold Q00005 1-443 view protein structure

Promoters
RGD ID:6803477
Promoter ID:HG_KWN:51449
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:NM_001127381,   NM_181675,   OTTHUMT00000251893,   UC010JGM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365146,238,316 - 146,238,816 (-)MPROMDB
RGD ID:6871134
Promoter ID:EPDNEW_H8732
Type:multiple initiation site
Name:PPP2R2B_3
Description:protein phosphatase 2 regulatory subunit Bbeta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8733  EPDNEW_H8734  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,864,395 - 146,864,455EPDNEW
RGD ID:6871136
Promoter ID:EPDNEW_H8733
Type:initiation region
Name:PPP2R2B_1
Description:protein phosphatase 2 regulatory subunit Bbeta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8732  EPDNEW_H8734  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385146,878,757 - 146,878,817EPDNEW
RGD ID:6871138
Promoter ID:EPDNEW_H8734
Type:initiation region
Name:PPP2R2B_2
Description:protein phosphatase 2 regulatory subunit Bbeta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8732  EPDNEW_H8733  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385147,055,961 - 147,056,021EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9305 AgrOrtholog
COSMIC PPP2R2B COSMIC
Ensembl Genes ENSG00000156475 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000336640 ENTREZGENE
  ENST00000336640.10 UniProtKB/Swiss-Prot
  ENST00000394409 ENTREZGENE
  ENST00000394409.7 UniProtKB/Swiss-Prot
  ENST00000394411 ENTREZGENE
  ENST00000394411.9 UniProtKB/Swiss-Prot
  ENST00000394413 ENTREZGENE
  ENST00000394413.7 UniProtKB/Swiss-Prot
  ENST00000394414 ENTREZGENE
  ENST00000394414.5 UniProtKB/Swiss-Prot
  ENST00000453001 ENTREZGENE
  ENST00000453001.5 UniProtKB/Swiss-Prot
  ENST00000504198 ENTREZGENE
  ENST00000504198.5 UniProtKB/Swiss-Prot
  ENST00000504565.1 UniProtKB/TrEMBL
  ENST00000508267.5 UniProtKB/TrEMBL
  ENST00000508545 ENTREZGENE
  ENST00000508545.6 UniProtKB/Swiss-Prot
  ENST00000512011.5 UniProtKB/TrEMBL
  ENST00000512639.5 UniProtKB/TrEMBL
  ENST00000512984.1 UniProtKB/TrEMBL
  ENST00000515880.5 UniProtKB/TrEMBL
  ENST00000528601.5 UniProtKB/TrEMBL
  ENST00000532154.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000156475 GTEx
HGNC ID HGNC:9305 ENTREZGENE
Human Proteome Map PPP2R2B Human Proteome Map
InterPro PP2A_PR55 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2A_PR55_CS UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5521 UniProtKB/Swiss-Prot
NCBI Gene 5521 ENTREZGENE
OMIM 604325 OMIM
PANTHER PTHR11871 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN PHOSPHATASE 2A 55 KDA REGULATORY SUBUNIT B BETA ISOFORM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33669 PharmGKB
PIRSF PP2A_PR55 UniProtKB/Swiss-Prot
PRINTS PP2APR55 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PR55_1 UniProtKB/Swiss-Prot
  PR55_2 UniProtKB/Swiss-Prot
  WD_REPEATS_1 UniProtKB/Swiss-Prot
SMART WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 2ABB_HUMAN UniProtKB/Swiss-Prot
  A6NEJ2 ENTREZGENE
  A8K102 ENTREZGENE
  B3KPD0 ENTREZGENE
  B7Z2F2 ENTREZGENE
  B7Z304 ENTREZGENE
  D3DQF7 ENTREZGENE
  D3DQF8 ENTREZGENE
  D6RB57_HUMAN UniProtKB/TrEMBL
  D6RF04_HUMAN UniProtKB/TrEMBL
  D6RGF9_HUMAN UniProtKB/TrEMBL
  E5RFC4_HUMAN UniProtKB/TrEMBL
  E9PCT7_HUMAN UniProtKB/TrEMBL
  G3V149 ENTREZGENE
  H0YA16_HUMAN UniProtKB/TrEMBL
  Q00005 ENTREZGENE
  Q9NS07_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6NEJ2 UniProtKB/Swiss-Prot
  A8K102 UniProtKB/Swiss-Prot
  B3KPD0 UniProtKB/Swiss-Prot
  B7Z2F2 UniProtKB/Swiss-Prot
  B7Z304 UniProtKB/Swiss-Prot
  D3DQF7 UniProtKB/Swiss-Prot
  D3DQF8 UniProtKB/Swiss-Prot
  G3V149 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 PPP2R2B  protein phosphatase 2 regulatory subunit Bbeta  PPP2R2B  protein phosphatase 2 regulatory subunit B, beta  Symbol and/or name change 5135510 APPROVED
2015-11-24 PPP2R2B  protein phosphatase 2 regulatory subunit B, beta  PPP2R2B  protein phosphatase 2, regulatory subunit B, beta  Symbol and/or name change 5135510 APPROVED
2011-07-27 PPP2R2B  protein phosphatase 2, regulatory subunit B, beta  PPP2R2B  protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform  Symbol and/or name change 5135510 APPROVED