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Aliases for PPP2R5D Gene

Aliases for PPP2R5D Gene

  • Protein Phosphatase 2 Regulatory Subunit B'Delta 2
  • Protein Phosphatase 2 Regulatory Subunit Bdelta 2 3 5
  • Protein Phosphatase 2, Regulatory Subunit B (B56), Delta Isoform 2 3
  • Serine/Threonine Protein Phosphatase 2A, 56 KDa Regulatory Subunit, Delta Isoform 3
  • Serine/Threonine-Protein Phosphatase 2A 56 KDa Regulatory Subunit Delta Isoform 3
  • PP2A, B Subunit, PR61 Delta Isoform 3
  • PP2A, B Subunit, B56 Delta Isoform 3
  • PP2A, B Subunit, R5 Delta Isoform 3
  • PP2A B Subunit Isoform PR61-Delta 4
  • PP2A, B Subunit, B Delta Isoform 3
  • PP2A B Subunit Isoform B56-Delta 4
  • PP2A B Subunit Isoform R5-Delta 4
  • PP2A B Subunit Isoform B-Delta 4
  • MRD35 3
  • B56D 3

External Ids for PPP2R5D Gene

Previous GeneCards Identifiers for PPP2R5D Gene

  • GC06P042954
  • GC06P042999
  • GC06P043060
  • GC06P042952
  • GC06P042669

Summaries for PPP2R5D Gene

Entrez Gene Summary for PPP2R5D 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]

GeneCards Summary for PPP2R5D Gene

PPP2R5D (Protein Phosphatase 2 Regulatory Subunit B'Delta) is a Protein Coding gene. Diseases associated with PPP2R5D include Mental Retardation, Autosomal Dominant 35 and Neuroblastoma. Among its related pathways are Activated TLR4 signalling and RET signaling. GO annotations related to this gene include binding. An important paralog of this gene is PPP2R5C.

UniProtKB/Swiss-Prot for PPP2R5D Gene

  • The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.

Gene Wiki entry for PPP2R5D Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP2R5D Gene

Genomics for PPP2R5D Gene

Regulatory Elements for PPP2R5D Gene

Enhancers for PPP2R5D Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F042927 0.5 ENCODE 15.4 -53.7 -53711 5.6 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PEX6 CUL9 CUL7 POLH PPP2R5D RRP36 RPL24P4 C6orf226 KLHDC3 MEA1
GH06F042901 0.9 Ensembl ENCODE 11.9 -81.4 -81449 3.3 ZFP64 SIN3A ARID4B DMAP1 ZNF48 ZNF2 SLC30A9 ZNF143 ZNF207 SP5 RPL7L1 PEX6 CNPY3 ENSG00000231113 PPP2R5D KLC4 RN7SL403P CUL7 KLHDC3 MEA1
GH06F042898 0.8 Ensembl ENCODE 11.2 -85.4 -85399 0.6 CTCF ARID4B ZNF2 RAD21 TEAD3 PATZ1 SMC3 THAP11 GATAD2A ZNF654 RPL7L1 CNPY3 ENSG00000231113 PPP2R5D PEX6 CUL7 KLHDC3 MEA1 RN7SL403P KLC4
GH06F042923 0.9 Ensembl ENCODE 11.1 -60.5 -60498 1.6 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ELK1 ZNF143 ZNF207 RPL7L1 ENSG00000271970 RPS2P28 ENSG00000223469 RPL24P4 PEX6 PPP2R5D KLHDC3 MEA1 KLC4
GH06F043129 0.2 ENCODE 11 +144.7 144679 0.2 HDGF PKNOX1 SIN3A ZNF335 ZNF316 CTBP1 POLR2A SCRT2 FOS NFE2 PTK7 KLC4 CUL7 RN7SL403P PPP2R5D ENSG00000231113 CNPY3 MEA1 KLHDC3 RPL7L1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PPP2R5D on UCSC Golden Path with GeneCards custom track

Promoters for PPP2R5D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001216952 1 1801 HDGF ATF1 ARID4B DMAP1 ZNF48 YY1 SLC30A9 GLIS2 ZNF143 FOS

Genomic Location for PPP2R5D Gene

Chromosome:
6
Start:
42,984,499 bp from pter
End:
43,012,345 bp from pter
Size:
27,847 bases
Orientation:
Plus strand

Genomic View for PPP2R5D Gene

Genes around PPP2R5D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP2R5D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP2R5D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP2R5D Gene

Proteins for PPP2R5D Gene

  • Protein details for PPP2R5D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14738-2A5D_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform
    Protein Accession:
    Q14738
    Secondary Accessions:
    • A8K3I9
    • B5BUA6
    • O00494
    • O00696
    • Q15171
    • Q5TC39

    Protein attributes for PPP2R5D Gene

    Size:
    602 amino acids
    Molecular mass:
    69992 Da
    Quaternary structure:
    • PP2A consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B/PR72/PR130/PR59 and R5/B/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Interacts with SGO1.

    Alternative splice isoforms for PPP2R5D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP2R5D Gene

Post-translational modifications for PPP2R5D Gene

  • Ubiquitination at Lys 508, Lys 548, and Lys 583
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP2R5D Gene

Domains & Families for PPP2R5D Gene

Gene Families for PPP2R5D Gene

Protein Domains for PPP2R5D Gene

Suggested Antigen Peptide Sequences for PPP2R5D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14738

UniProtKB/Swiss-Prot:

2A5D_HUMAN :
  • Belongs to the phosphatase 2A regulatory subunit B56 family.
Family:
  • Belongs to the phosphatase 2A regulatory subunit B56 family.
genes like me logo Genes that share domains with PPP2R5D: view

Function for PPP2R5D Gene

Molecular function for PPP2R5D Gene

GENATLAS Biochemistry:
protein phosphatase 2A,regulatory subunit B56 delta isoform,expressed in adult brain,cytosolic subunit of PPPR2A in interphase cells,concentrated in the nucleus of mitotic and recently divided cells
UniProtKB/Swiss-Prot Function:
The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.
UniProtKB/Swiss-Prot Induction:
By retinoic acid; in neuroblastoma cell lines.

Gene Ontology (GO) - Molecular Function for PPP2R5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 protein serine/threonine phosphatase activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0019888 protein phosphatase regulator activity IEA --
genes like me logo Genes that share ontologies with PPP2R5D: view
genes like me logo Genes that share phenotypes with PPP2R5D: view

Human Phenotype Ontology for PPP2R5D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPP2R5D Gene

MGI Knock Outs for PPP2R5D:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PPP2R5D Gene

Localization for PPP2R5D Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP2R5D Gene

Cytoplasm. Nucleus. Note=Nuclear in interphase, nuclear during mitosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPP2R5D Gene COMPARTMENTS Subcellular localization image for PPP2R5D gene
Compartment Confidence
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for PPP2R5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000159 protein phosphatase type 2A complex IEA --
GO:0005634 nucleus TAS 8703017
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPP2R5D: view

Pathways & Interactions for PPP2R5D Gene

SuperPathways for PPP2R5D Gene

SuperPathway Contained pathways
1 RET signaling
2 Activated TLR4 signalling
3 T41 mutants of beta-catenin arent phosphorylated
4 GAB1 signalosome
5 Nuclear Events (kinase and transcription factor activation)
genes like me logo Genes that share pathways with PPP2R5D: view

SIGNOR curated interactions for PPP2R5D Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PPP2R5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development TAS 8703017
GO:0034047 regulation of protein phosphatase type 2A activity IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PPP2R5D: view

Transcripts for PPP2R5D Gene

Unigene Clusters for PPP2R5D Gene

Protein phosphatase 2, regulatory subunit B, delta:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP2R5D Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a ·
SP1: - -
SP2: - - - - - - -
SP3: - - -
SP4:
SP5: - -
SP6:
SP7: -

ExUns: 13b ^ 14 ^ 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PPP2R5D Gene

GeneLoc Exon Structure for
PPP2R5D
ECgene alternative splicing isoforms for
PPP2R5D

Expression for PPP2R5D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP2R5D Gene

Protein differential expression in normal tissues from HIPED for PPP2R5D Gene

This gene is overexpressed in Breast (13.5) and Frontal cortex (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPP2R5D Gene



Protein tissue co-expression partners for PPP2R5D Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP2R5D Gene:

PPP2R5D

SOURCE GeneReport for Unigene cluster for PPP2R5D Gene:

Hs.533308

mRNA Expression by UniProt/SwissProt for PPP2R5D Gene:

Q14738-2A5D_HUMAN
Tissue specificity: Isoform Delta-2 is widely expressed. Isoform Delta-1 is highly expressed in brain.
genes like me logo Genes that share expression patterns with PPP2R5D: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PPP2R5D Gene

Orthologs for PPP2R5D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPP2R5D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP2R5D 34 35
  • 99.21 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP2R5D 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP2R5D 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP2R5D 34 35
  • 93.49 (n)
cow
(Bos Taurus)
Mammalia PPP2R5D 34 35
  • 92.22 (n)
rat
(Rattus norvegicus)
Mammalia Ppp2r5d 34
  • 91.07 (n)
mouse
(Mus musculus)
Mammalia Ppp2r5d 34 16 35
  • 90.24 (n)
chicken
(Gallus gallus)
Aves PPP2R5D 34 35
  • 80.17 (n)
lizard
(Anolis carolinensis)
Reptilia PPP2R5D 35
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ppp2r5d 34 35
  • 78.88 (n)
wufc41e12 34
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD34343 36
  • 72 (a)
PP2A-B 36 34 35
  • 66.36 (n)
worm
(Caenorhabditis elegans)
Secernentea C13G3.3a 36
  • 65 (a)
C13G3.3b 36
  • 65 (a)
W08G11.4 36
  • 62 (a)
pptr-2 34 35
  • 61.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RTS1 35
  • 37 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ATB DELTA 34
  • 55.15 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.5451 34
wheat
(Triticum aestivum)
Liliopsida Ta.23058 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2648 35
  • 65 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes par2 34
  • 53.61 (n)
Species where no ortholog for PPP2R5D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for PPP2R5D Gene

ENSEMBL:
Gene Tree for PPP2R5D (if available)
TreeFam:
Gene Tree for PPP2R5D (if available)

Paralogs for PPP2R5D Gene

Paralogs for PPP2R5D Gene

(4) SIMAP similar genes for PPP2R5D Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PPP2R5D Gene

genes like me logo Genes that share paralogs with PPP2R5D: view

Variants for PPP2R5D Gene

Sequence variations from dbSNP and Humsavar for PPP2R5D Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs863225079 Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355], Pathogenic 43,007,271(+) AAGAT(A/G)AGCCC intron-variant, reference, missense
rs863225082 Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355], Pathogenic 43,007,265(+) CAGAG(A/G)AAGAT intron-variant, reference, missense
VAR_073709 Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
VAR_074492 Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
rs757369209 Pathogenic 43,006,514(+) AGCCA(A/C/T)CGTCA intron-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PPP2R5D Gene

Variant ID Type Subtype PubMed ID
dgv10640n54 CNV loss 21841781
esv3576145 CNV gain 25503493
esv3608811 CNV loss 21293372
nsv1017398 CNV gain 25217958
nsv462927 CNV loss 19166990
nsv462929 CNV loss 19166990
nsv462930 CNV loss 19166990
nsv602992 CNV loss 21841781
nsv602993 CNV loss 21841781
nsv830651 CNV loss 17160897

Variation tolerance for PPP2R5D Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPP2R5D Gene

Human Gene Mutation Database (HGMD)
PPP2R5D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP2R5D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP2R5D Gene

Disorders for PPP2R5D Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPP2R5D Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 35
  • intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

2A5D_HUMAN
  • Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:25533962, ECO:0000269 PubMed:26168268}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PPP2R5D

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP2R5D
genes like me logo Genes that share disorders with PPP2R5D: view

No data available for Genatlas for PPP2R5D Gene

Publications for PPP2R5D Gene

  1. B56delta-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (PMID: 26168268) Houge G. … Janssens V. (J. Clin. Invest. 2015) 3 4 64
  2. Phosphorylation on the PPP2R5D B regulatory subunit modulates the biochemical properties of protein phosphatase 2A. (PMID: 20423611) Yu U.Y. … Ahn J.H. (BMB Rep 2010) 3 22 64
  3. Shugoshin collaborates with protein phosphatase 2A to protect cohesin. (PMID: 16541025) Kitajima T.S. … Watanabe Y. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PPP2R5D Gene

Sources for PPP2R5D Gene

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