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Aliases for PPP2R5D Gene

Aliases for PPP2R5D Gene

  • Protein Phosphatase 2 Regulatory Subunit B'Delta 2 3 5
  • Serine/Threonine-Protein Phosphatase 2A 56 KDa Regulatory Subunit Delta Isoform 3 4
  • Protein Phosphatase 2, Regulatory Subunit B (B56), Delta Isoform 2 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, B' Delta Isoform 3
  • PP2A, B Subunit, R5 Delta Isoform 3
  • PP2A B Subunit Isoform PR61-Delta 4
  • PP2A B Subunit Isoform B56-Delta 4
  • PP2A B Subunit Isoform B'-Delta 4
  • PP2A B Subunit Isoform R5-Delta 4
  • B56delta 3
  • MRD35 3
  • B56D 3

External Ids for PPP2R5D Gene

Previous GeneCards Identifiers for PPP2R5D Gene

  • GC06P042954
  • GC06P042999
  • GC06P043060
  • GC06P042952
  • GC06P042669
  • GC06P042994
  • GC06P043293
  • GC06P042998
  • GC06P043282

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 Retinitis Pigmentosa 23. Among its related pathways are Activated TLR4 signalling and S45 mutants of beta-catenin arent phosphorylated. Gene Ontology (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

Additional gene information for PPP2R5D Gene

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

Genomics for PPP2R5D Gene

GeneHancer (GH) Regulatory Elements for PPP2R5D Gene

Promoters and enhancers for PPP2R5D Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J042983 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.7 +0.1 102 2.4 ZFX SP1 ELF3 POLR2A FOS AHR TFE3 MLLT1 ZNF644 EGR1 PPP2R5D PEX6 CUL7 KLHDC3 MEA1
GH06J042986 Promoter 0.7 Ensembl 600.7 +1.8 1802 0.2 ZNF311 PRDM2 PPP2R5D POLR1C KLHDC3 MEA1
GH06J042928 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.4 -53.7 -53710 5.6 HDGF SP1 CC2D1A ELF3 ZFX MNT ZNF148 NKRF POLR2A MLLT1 CNPY3 GC06M042946 PIR33684 GNMT PEX6 ZNF318 POLH XPO5 CUL7 ABCC10
GH06J043180 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.3 +197.7 197665 3.2 MTA3 ZNF652 SP1 ZFX ELF3 MNT CBFA2T2 ZNF148 NKRF POLR2A CUL9 DNPH1 CUL7 POLH ZNF318 XPO5 ENSG00000219470 POLR1C GTPBP2 RRP36
GH06J043454 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.1 +470.8 470823 2.2 ELF3 CTCF ZSCAN21 AHR TFE3 NCOA6 ZBTB7A TRIM24 SP7 SP5 DLK2 ZNF318 ABCC10 CUL7 ENSG00000220614 XPO5 AARS2 CUL9 ENSG00000219470 POLH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP2R5D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPP2R5D gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-2
  • Evi-1
  • HOXA5
  • STAT1

Genomic Locations for PPP2R5D Gene

Genomic Locations for PPP2R5D Gene
chr6:42,984,499-43,012,345
(GRCh38/hg38)
Size:
27,847 bases
Orientation:
Plus strand
chr6:42,952,237-42,980,080
(GRCh37/hg19)
Size:
27,844 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. Interacts with ADCY8 (PubMed:22976297).

    Alternative splice isoforms for PPP2R5D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP2R5D Gene

Post-translational modifications for PPP2R5D Gene

  • Ubiquitination at posLast=583583, posLast=508508, and isoforms=2, 3548
  • 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:
  • PP2A B subunit isoform R5-delta (2A5D_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for PPP2R5D Gene

Gene Ontology (GO) - Molecular Function for PPP2R5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IDA 24157919
GO:0005515 protein binding IPI 16189514
GO:0019888 protein phosphatase regulator activity IEA,TAS 8703017
GO:0072542 protein phosphatase activator activity IBA 21873635
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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PPP2R5D - Now 50% OFF >
  • * PPP2R5D as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PPP2R5D tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP2R5D gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP2R5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000159 protein phosphatase type 2A complex IBA 21873635
GO:0005634 nucleus TAS,IBA 21873635
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

PathCards logo

SuperPathways for PPP2R5D Gene

SuperPathway Contained pathways
1 RET signaling
2 Activated TLR4 signalling
3 S45 mutants of beta-catenin arent phosphorylated
4 PI3K/AKT activation
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

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PPP2R5D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IDA 24157919
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development TAS 8703017
GO:0010801 negative regulation of peptidyl-threonine phosphorylation IEA --
GO:0031952 regulation of protein autophosphorylation IBA 21873635
genes like me logo Genes that share ontologies with PPP2R5D: view

Drugs & Compounds for PPP2R5D Gene

(3) Drugs for PPP2R5D Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3427
Epirubicin Approved Pharma 452
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2170
genes like me logo Genes that share compounds with PPP2R5D: view

Transcripts for PPP2R5D Gene

mRNA/cDNA for PPP2R5D Gene

(4) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PPP2R5D Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PPP2R5D - Now 50% OFF >
  • * PPP2R5D as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PPP2R5D tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for PPP2R5D Gene

  • Nervous system(4.9)
  • Heart(4.3)
  • Kidney(4.3)
  • Bone marrow(4.2)
  • Eye(4.2)
  • Intestine(4.2)
  • Skin(2.5)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP2R5D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
Limb:
  • femur
  • hip
  • lower limb
  • thigh
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PPP2R5D: view

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 35 34
  • 99.21 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPP2R5D 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP2R5D 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP2R5D 35 34
  • 93.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPP2R5D 35 34
  • 92.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp2r5d 34
  • 91.07 (n)
mouse
(Mus musculus)
Mammalia Ppp2r5d 17 35 34
  • 90.24 (n)
chicken
(Gallus gallus)
Aves PPP2R5D 35 34
  • 80.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP2R5D 35
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ppp2r5d 35 34
  • 78.88 (n)
OneToOne
wufc41e12 34
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD34343 36
  • 72 (a)
PP2A-B' 35 36 34
  • 66.36 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C13G3.3b 36
  • 65 (a)
C13G3.3a 36
  • 65 (a)
W08G11.4 36
  • 62 (a)
pptr-2 35 34
  • 61.55 (n)
OneToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for PPP2R5D: view image

Paralogs for PPP2R5D Gene

Paralogs for PPP2R5D Gene

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

  • 2A5D_HUMAN
  • E9PFR3_HUMAN
  • H0Y8C4_HUMAN
  • H7C5Q9_HUMAN
  • H7C5Z1_HUMAN

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 Variation AA Info Type
rs1064794719 uncertain-significance, likely-pathogenic, Inborn genetic diseases, not provided 43,007,960(+) A/C/T coding_sequence_variant, missense_variant
rs1131691266 uncertain-significance, likely-pathogenic, not specified, Mental retardation, autosomal dominant 35 43,007,966(+) G/A coding_sequence_variant, missense_variant
rs757369209 pathogenic, Mental retardation, autosomal dominant 35, - 43,006,514(+) C/A/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs863225079 pathogenic, Mental retardation, autosomal dominant 35, not provided, Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355] 43,007,271(+) G/A coding_sequence_variant, missense_variant
rs863225080 pathogenic, likely-pathogenic, not provided, Inborn genetic diseases 43,009,328(+) G/A coding_sequence_variant, missense_variant

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)

Additional Variant Information for PPP2R5D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP2R5D
Human Gene Mutation Database (HGMD)
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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (PMID: 26168268) Houge G … Janssens V (The Journal of clinical investigation 2015) 3 4 58
  2. A key phosphorylation site in AC8 mediates regulation of Ca(2+)-dependent cAMP dynamics by an AC8-AKAP79-PKA signalling complex. (PMID: 22976297) Willoughby D … Cooper DM (Journal of cell science 2012) 3 4 58
  3. Phosphorylation on the PPP2R5D B regulatory subunit modulates the biochemical properties of protein phosphatase 2A. (PMID: 20423611) Yu UY … Ahn JH (BMB reports 2010) 3 23 58
  4. Shugoshin collaborates with protein phosphatase 2A to protect cohesin. (PMID: 16541025) Kitajima TS … Watanabe Y (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PPP2R5D Gene