GeneBe

PPP2R5B

protein phosphatase 2 regulatory subunit B'beta, the group of Armadillo like helical domain containing|Protein phosphatase 2 regulatory subunits

Basic information

Region (hg38): 11:64917553-64934475

Links

ENSG00000068971 ∙ NCBI:5526 ∙ OMIM:601644 ∙ HGNC:9310 ∙ Uniprot:Q15173 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PPP2R5B gene.

  • not_provided (47 variants)
  • not_specified (45 variants)
  • PPP2R5B-related_disorder (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP2R5B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006244.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
14
clinvar
2
clinvar
 16
missense
59
clinvar
2
clinvar
 61
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 59 16 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PPP2R5Bprotein_codingprotein_codingENST00000164133 1316921
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.9840.0158125740081257480.0000318
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.461823020.6020.00001883219
Missense in Polyphen70124.490.562281262
Synonymous0.3631171220.9580.00000698988
Loss of Function4.16325.80.1160.00000120303

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001810.000181
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00002640.0000264
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: As the regulatory component of the serine/threonine- protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation. {ECO:0000269|PubMed:21329884}.;
Pathway
PI3K-Akt signaling pathway - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);mRNA surveillance pathway - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);XBP1(S) activates chaperone genes;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Glycogen Metabolism;Degradation of beta-catenin by the destruction complex;RAF activation;Signaling by WNT;Signal Transduction;GPCR Dopamine D1like receptor;CTLA4 inhibitory signaling;Costimulation by the CD28 family;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;Immune System;Adaptive Immune System;insulin Mam;RHO GTPases Activate Formins;Disassembly of the destruction complex and recruitment of AXIN to the membrane;RHO GTPase Effectors;Signaling by Rho GTPases;Hemostasis;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;Beta-catenin phosphorylation cascade;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Platelet sensitization by LDL;Platelet homeostasis;Cell Cycle, Mitotic;Intracellular signaling by second messengers;TCF dependent signaling in response to WNT;insulin (Consensus)

Recessive Scores

pRec
0.107

Intolerance Scores

loftool
0.175
rvis_EVS
-0.54
rvis_percentile_EVS
20.26

Haploinsufficiency Scores

pHI
0.161
hipred
Y
hipred_score
0.785
ghis
0.645

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.946

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ppp2r5b
Phenotype

Gene ontology

Biological process
protein dephosphorylation;regulation of signaling receptor activity;positive regulation of neuron projection development;regulation of phosphatidylinositol 3-kinase signaling;positive regulation of protein complex assembly;regulation of protein autophosphorylation;IRE1-mediated unfolded protein response;regulation of phosphoprotein phosphatase activity;positive regulation of transcription by RNA polymerase II;regulation of peptidyl-tyrosine phosphorylation;positive regulation of DNA-binding transcription factor activity;positive regulation of neurotrophin TRK receptor signaling pathway;negative regulation of G0 to G1 transition;positive regulation of cell cycle arrest;cellular response to growth factor stimulus
Cellular component
protein phosphatase type 2A complex;nucleus;cytoplasm;cytosol
Molecular function
protein binding;protein phosphatase regulator activity;protein phosphatase activator activity