PPP2R5D (protein phosphatase 2 regulatory subunit Bdelta)

2003-11-01 Affiliation

Identity

HGNC

PPP2R5D

LOCATION

6p21.1

LOCUSID

5528

ALIAS

B56D,B56delta,MRD35

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5528
MIM: 601646
HGNC: 9312
Ensembl: ENSG00000112640

Variants:

dbSNP: 5528
ClinVar: 5528
TCGA: ENSG00000112640
COSMIC: PPP2R5D

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000112640	ENST00000230402	H7C5Z1
ENSG00000112640	ENST00000394110	Q14738
ENSG00000112640	ENST00000461010	Q14738
ENSG00000112640	ENST00000470467	H0Y8C4
ENSG00000112640	ENST00000472118	E9PFR3
ENSG00000112640	ENST00000485511	Q14738
ENSG00000112640	ENST00000485511	A0A024RD11
ENSG00000112640	ENST00000486843	H7C5Q9

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Oocyte meiosis	KEGG	ko04114
Oocyte meiosis	KEGG	hsa04114
mRNA surveillance pathway	KEGG	ko03015
mRNA surveillance pathway	KEGG	hsa03015
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
AMPK signaling pathway	KEGG	hsa04152
AMPK signaling pathway	KEGG	ko04152
Sphingolipid signaling pathway	KEGG	hsa04071
Sphingolipid signaling pathway	KEGG	ko04071
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Signaling by WNT in cancer	REACTOME	R-HSA-4791275
truncated APC mutants destabilize the destruction complex	REACTOME	R-HSA-4839744
APC truncation mutants have impaired AXIN binding	REACTOME	R-HSA-5467337
AXIN mutants destabilize the destruction complex, activating WNT signaling	REACTOME	R-HSA-4839735
AXIN missense mutants destabilize the destruction complex	REACTOME	R-HSA-5467340
AMER1 mutants destabilize the destruction complex	REACTOME	R-HSA-4839748
Truncations of AMER1 destabilize the destruction complex	REACTOME	R-HSA-5467348
phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex	REACTOME	R-HSA-4839743
S45 mutants of beta-catenin aren't phosphorylated	REACTOME	R-HSA-5358751
T41 mutants of beta-catenin aren't phosphorylated	REACTOME	R-HSA-5358752
S37 mutants of beta-catenin aren't phosphorylated	REACTOME	R-HSA-5358749
S33 mutants of beta-catenin aren't phosphorylated	REACTOME	R-HSA-5358747
Misspliced GSK3beta mutants stabilize beta-catenin	REACTOME	R-HSA-5339716
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Costimulation by the CD28 family	REACTOME	R-HSA-388841
CTLA4 inhibitory signaling	REACTOME	R-HSA-389513
Signaling by the B Cell Receptor (BCR)	REACTOME	R-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)	REACTOME	R-HSA-1168372
PIP3 activates AKT signaling	REACTOME	R-HSA-1257604
Negative regulation of the PI3K/AKT network	REACTOME	R-HSA-199418
Innate Immune System	REACTOME	R-HSA-168249
Toll-Like Receptors Cascades	REACTOME	R-HSA-168898
Toll Like Receptor 10 (TLR10) Cascade	REACTOME	R-HSA-168142
MyD88 cascade initiated on plasma membrane	REACTOME	R-HSA-975871
MAP kinase activation in TLR cascade	REACTOME	R-HSA-450294
MAPK targets/ Nuclear events mediated by MAP kinases	REACTOME	R-HSA-450282
ERK/MAPK targets	REACTOME	R-HSA-198753
ERKs are inactivated	REACTOME	R-HSA-202670
Toll Like Receptor 3 (TLR3) Cascade	REACTOME	R-HSA-168164
MyD88-independent TLR3/TLR4 cascade	REACTOME	R-HSA-166166
TRIF-mediated TLR3/TLR4 signaling	REACTOME	R-HSA-937061
Toll Like Receptor 5 (TLR5) Cascade	REACTOME	R-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) Cascade	REACTOME	R-HSA-168181
MyD88 dependent cascade initiated on endosome	REACTOME	R-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	REACTOME	R-HSA-975138
Toll Like Receptor 9 (TLR9) Cascade	REACTOME	R-HSA-168138
Toll Like Receptor 4 (TLR4) Cascade	REACTOME	R-HSA-166016
Activated TLR4 signalling	REACTOME	R-HSA-166054
MyD88:Mal cascade initiated on plasma membrane	REACTOME	R-HSA-166058
Toll Like Receptor 2 (TLR2) Cascade	REACTOME	R-HSA-181438
Toll Like Receptor TLR1:TLR2 Cascade	REACTOME	R-HSA-168179
Toll Like Receptor TLR6:TLR2 Cascade	REACTOME	R-HSA-168188
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
RAF activation	REACTOME	R-HSA-5673000
Negative regulation of MAPK pathway	REACTOME	R-HSA-5675221
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
Role of LAT2/NTAL/LAB on calcium mobilization	REACTOME	R-HSA-2730905
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Platelet sensitization by LDL	REACTOME	R-HSA-432142
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
GAB1 signalosome	REACTOME	R-HSA-180292
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
PI3K/AKT activation	REACTOME	R-HSA-198203
Nuclear Events (kinase and transcription factor activation)	REACTOME	R-HSA-198725
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
Signaling by Rho GTPases	REACTOME	R-HSA-194315
RHO GTPase Effectors	REACTOME	R-HSA-195258
RHO GTPases Activate Formins	REACTOME	R-HSA-5663220
Signaling by GPCR	REACTOME	R-HSA-372790
Opioid Signalling	REACTOME	R-HSA-111885
DARPP-32 events	REACTOME	R-HSA-180024
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Wnt	REACTOME	R-HSA-195721
Degradation of beta-catenin by the destruction complex	REACTOME	R-HSA-195253
Beta-catenin phosphorylation cascade	REACTOME	R-HSA-196299
TCF dependent signaling in response to WNT	REACTOME	R-HSA-201681
Disassembly of the destruction complex and recruitment of AXIN to the membrane	REACTOME	R-HSA-4641262
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
M Phase	REACTOME	R-HSA-68886
Mitotic Prometaphase	REACTOME	R-HSA-68877
Resolution of Sister Chromatid Cohesion	REACTOME	R-HSA-2500257
Mitotic Metaphase and Anaphase	REACTOME	R-HSA-2555396
Mitotic Anaphase	REACTOME	R-HSA-68882
Separation of Sister Chromatids	REACTOME	R-HSA-2467813
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Glycolysis	REACTOME	R-HSA-70171
Integration of energy metabolism	REACTOME	R-HSA-163685
PP2A-mediated dephosphorylation of key metabolic factors	REACTOME	R-HSA-163767
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	REACTOME	R-HSA-6811558
RET signaling	REACTOME	R-HSA-8853659

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD
PA128406956	fluorouracil	Chemical	ClinicalAnnotation	associated	PD
PA443560	Breast Neoplasms	Disease	ClinicalAnnotation	associated	PD
PA445113	Neutropenia	Disease	ClinicalAnnotation	associated	PD
PA449165	cyclophosphamide	Chemical	ClinicalAnnotation	associated	PD
PA449476	epirubicin	Chemical	ClinicalAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
16239230	2005	Positive regulation of Raf1-MEK1/2-ERK1/2 signaling by protein serine/threonine phosphatase 2A holoenzymes.	51
25246613	2014	PP2A-B56 opposes Mps1 phosphorylation of Knl1 and thereby promotes spindle assembly checkpoint silencing.	50
14636580	2003	PKA, PKC, and the protein phosphatase 2A influence HAND factor function: a mechanism for tissue-specific transcriptional regulation.	47
18056802	2007	Control of mitotic exit by PP2A regulation of Cdc25C and Cdk1.	40
25772595	2015	MicroRNA-9 regulates steroid-resistant airway hyperresponsiveness by reducing protein phosphatase 2A activity.	24
26168268	2015	B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.	23
25972378	2015	Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.	16
26576547	2016	De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.	12
20423611	2010	Phosphorylation on the PPP2R5D B regulatory subunit modulates the biochemical properties of protein phosphatase 2A.	8
19538941	2009	The Balpha and Bdelta regulatory subunits of PP2A are necessary for assembly of the CaMKIV.PP2A signaling complex.	3

Citation

Dessen P

PPP2R5D (protein phosphatase 2 regulatory subunit Bdelta)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41820/ppp2r5d