PPP2R5D
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform
Also known as: 2A5D_HUMAN, B56D, B56delta
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14738
- Gene
- PPP2R5D
- Ensembl
- ENSG00000112640
- Chromosome
- 6
- Canonical length
- 602 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
602 residues, UniProt reviewed canonical sequence.
>Q14738|PPP2R5D
1 MPYKLKKEKE PPKVAKCTAK PSSSGKDGGG ENTEEAQPQP QPQPQPQAQS QPPSSNKRPS
61 NSTPPPTQLS KIKYSGGPQI VKKERRQSSS RFNLSKNREL QKLPALKDSP TQEREELFIQ
121 KLRQCCVLFD FVSDPLSDLK FKEVKRAGLN EMVEYITHSR DVVTEAIYPE AVTMFSVNLF
181 RTLPPSSNPT GAEFDPEEDE PTLEAAWPHL QLVYEFFLRF LESPDFQPNI AKKYIDQKFV
241 LALLDLFDSE DPRERDFLKT ILHRIYGKFL GLRAYIRRQI NHIFYRFIYE TEHHNGIAEL
301 LEILGSIING FALPLKEEHK MFLIRVLLPL HKVKSLSVYH PQLAYCVVQF LEKESSLTEP
361 VIVGLLKFWP KTHSPKEVMF LNELEEILDV IEPSEFSKVM EPLFRQLAKC VSSPHFQVAE
421 RALYYWNNEY IMSLISDNAA RVLPIMFPAL YRNSKSHWNK TIHGLIYNAL KLFMEMNQKL
481 FDDCTQQYKA EKQKGRFRMK EREEMWQKIE ELARLNPQYP MFRAPPPLPP VYSMETETPT
541 AEDIQLLKRT VETEAVQMLK DIKKEKVLLR RKSELPQDVY TIKALEAHKR AEEFLTASQE
601 ALLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PPP2R5D can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 43 nTPM
- thymus: 41 nTPM
- skeletal muscle: 40 nTPM
- tongue: 38 nTPM
- cerebral cortex: 37 nTPM
- small intestine: 34 nTPM
Single-cell type
- oocytes: 41 nCPM
- enterocytes: 38 nCPM
- tuft cells: 35 nCPM
- megakaryocytes: 31 nCPM
- epicardial cells: 30 nCPM
- cardiomyocytes: 28 nCPM
Immune cell
- T-reg: 24 nTPM
- eosinophil: 22 nTPM
- memory CD8 T-cell: 21 nTPM
- total PBMC: 20 nTPM
- MAIT T-cell: 19 nTPM
- basophil: 19 nTPM
Brain region
- cerebral cortex: 67 nTPM
- basal ganglia: 54 nTPM
- pons: 54 nTPM
- white matter: 53 nTPM
- thalamus: 51 nTPM
- hippocampal formation: 46 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PPP2R5D.
Disease | AllUniProt
Conditions PPP2R5D is implicated in, by any mechanism.
- Houge-Janssens syndrome 1 (HJS1) MIM:616355
Disease | GeneticClinVar
27 pathogenic / likely-pathogenic of 673 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Houge-Janssens syndrome 1
- Inborn genetic diseases
- PPP2R5D-related disorder
- Genetic developmental and epileptic encephalopathy
- Seizure
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.18
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.65
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PPP2R5D in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PPP2R5D as an antibody target. Whether an autoantibody or antibody against PPP2R5D could matter depends on whether native PPP2R5D is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PPP2R5D is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PPP2R5D as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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