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Aliases for PPP4R2 Gene

Aliases for PPP4R2 Gene

  • Protein Phosphatase 4 Regulatory Subunit 2 2 3 5
  • Serine/Threonine-Protein Phosphatase 4 Regulatory Subunit 2 3
  • Protein Phosphatase 4, Regulatory Subunit 2 2
  • PP4R2 3

External Ids for PPP4R2 Gene

Previous GeneCards Identifiers for PPP4R2 Gene

  • GC03P191644
  • GC03P199238
  • GC03P072851
  • GC03P072966
  • GC03P073128
  • GC03P073045

Summaries for PPP4R2 Gene

Entrez Gene Summary for PPP4R2 Gene

  • The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for PPP4R2 Gene

PPP4R2 (Protein Phosphatase 4 Regulatory Subunit 2) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair. GO annotations related to this gene include protein binding, bridging.

UniProtKB/Swiss-Prot for PPP4R2 Gene

  • Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on Ser-140 (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylation by recruiting PPP4C to RPA2 in a DNA damage-dependent manner. RPA2 dephosphorylation is required for the efficient RPA2-mediated recruitment of RAD51 to chromatin following double strand breaks, an essential step for DNA repair.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP4R2 Gene

Genomics for PPP4R2 Gene

Regulatory Elements for PPP4R2 Gene

Enhancers for PPP4R2 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
GH03G073028 1.3 Ensembl ENCODE dbSUPER 29.1 +32.8 32833 2.0 CEBPG RELA GATA2 NFE2 FOS IKZF2 NFE2L2 ZNF263 SP5 CEBPB PPP4R2 GC03P073027 EBLN2
GH03G072972 1.5 FANTOM5 ENCODE dbSUPER 24.5 -23.8 -23761 1.9 FOXA2 BMI1 THRB RARA YY1 GATA4 RELB IKZF2 CREM SP5 PPP4R2 GXYLT2 EBLN2 GC03M072929
GH03G073037 1.2 Ensembl ENCODE dbSUPER 27.8 +41.2 41236 1.3 CTCF PKNOX1 ZNF362 CEBPG NR2F2 YY1 JUND ZNF366 GATA2 PBX2 PPP4R2 GC03P073027 EBLN2
GH03G073055 0.9 Ensembl ENCODE 30.6 +59.4 59436 0.8 CTCF PKNOX1 ZNF654 RFX1 TRIM22 RAD21 PRDM6 SMC3 PPP4R2 SHQ1 RNU2-64P EBLN2 GC03P073027
GH03G072995 1.3 ENCODE dbSUPER 21 +0.9 866 4.0 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 PPP4R2 RNU7-19P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPP4R2 on UCSC Golden Path with GeneCards custom track

Promoters for PPP4R2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000154578 732 2201 HDGF FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF207 SP3

Genomic Location for PPP4R2 Gene

Chromosome:
3
Start:
72,996,785 bp from pter
End:
73,069,199 bp from pter
Size:
72,415 bases
Orientation:
Plus strand

Genomic View for PPP4R2 Gene

Genes around PPP4R2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP4R2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP4R2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP4R2 Gene

Proteins for PPP4R2 Gene

  • Protein details for PPP4R2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY27-PP4R2_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 4 regulatory subunit 2
    Protein Accession:
    Q9NY27
    Secondary Accessions:
    • A8K1I6
    • Q2TAJ9
    • Q498B8
    • Q8WXX6

    Protein attributes for PPP4R2 Gene

    Size:
    417 amino acids
    Molecular mass:
    46898 Da
    Quaternary structure:
    • Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or more regulatory subunits. Component of the PP4 complexes PPP4C-PPP4R2, PPP4C-PPP4R2-PPP4R3A and PPP4C-PPP4R2-PPP4R3B. The PPP4C-PPP4R2 complex appears to be a tetramer composed of 2 molecules of PPP4C and 2 molecules of PPP4R2. Interacts with DDX20/GEMIN3 and GEMIN4. Interacts with RPA2; this DNA damage-dependent interaction recruits PPP4C leading to RPA2 dephosphorylation.
    SequenceCaution:
    • Sequence=AAI00282.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAB93534.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP4R2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP4R2 Gene

Post-translational modifications for PPP4R2 Gene

  • Ubiquitination at posLast=1515, posLast=5555, posLast=8484, and Lys141
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP4R2 Gene

Domains & Families for PPP4R2 Gene

Gene Families for PPP4R2 Gene

Protein Domains for PPP4R2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPP4R2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NY27

UniProtKB/Swiss-Prot:

PP4R2_HUMAN :
  • Belongs to the PPP4R2 family.
Family:
  • Belongs to the PPP4R2 family.
genes like me logo Genes that share domains with PPP4R2: view

Function for PPP4R2 Gene

Molecular function for PPP4R2 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on Ser-140 (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylation by recruiting PPP4C to RPA2 in a DNA damage-dependent manner. RPA2 dephosphorylation is required for the efficient RPA2-mediated recruitment of RAD51 to chromatin following double strand breaks, an essential step for DNA repair.

Gene Ontology (GO) - Molecular Function for PPP4R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16085932
GO:0019888 protein phosphatase regulator activity IEA,IMP 20154705
GO:0030674 protein binding, bridging IMP 20154705
genes like me logo Genes that share ontologies with PPP4R2: view
genes like me logo Genes that share phenotypes with PPP4R2: view

Animal Models for PPP4R2 Gene

MGI Knock Outs for PPP4R2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP4R2 Gene

Localization for PPP4R2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP4R2 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Note=Ionizing radiation induces relocalization to nuclear foci and colocalization with RPA2.

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 PPP4R2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PPP4R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 20154705
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome TAS 10769191
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with PPP4R2: view

Pathways & Interactions for PPP4R2 Gene

genes like me logo Genes that share pathways with PPP4R2: view

Gene Ontology (GO) - Biological Process for PPP4R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0006464 cellular protein modification process TAS 10769191
GO:0008380 RNA splicing IEA --
GO:0010569 regulation of double-strand break repair via homologous recombination IMP 20154705
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PPP4R2: view

No data available for SIGNOR curated interactions for PPP4R2 Gene

Drugs & Compounds for PPP4R2 Gene

No Compound Related Data Available

Transcripts for PPP4R2 Gene

mRNA/cDNA for PPP4R2 Gene

Unigene Clusters for PPP4R2 Gene

Protein phosphatase 4, regulatory subunit 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP4R2 Gene

No ASD Table

Relevant External Links for PPP4R2 Gene

GeneLoc Exon Structure for
PPP4R2
ECgene alternative splicing isoforms for
PPP4R2

Expression for PPP4R2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP4R2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP4R2 Gene

This gene is overexpressed in Adrenal (17.8), Lung (16.2), Testis (15.0), and CD8 Tcells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPP4R2 Gene



Protein tissue co-expression partners for PPP4R2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PPP4R2 Gene:

PPP4R2

SOURCE GeneReport for Unigene cluster for PPP4R2 Gene:

Hs.431092

mRNA Expression by UniProt/SwissProt for PPP4R2 Gene:

Q9NY27-PP4R2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PPP4R2 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with PPP4R2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP4R2 Gene

Orthologs for PPP4R2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPP4R2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP4R2 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia PPP4R2 34 35
  • 94.75 (n)
cow
(Bos Taurus)
Mammalia PPP4R2 34 35
  • 94.09 (n)
mouse
(Mus musculus)
Mammalia Ppp4r2 34 16 35
  • 85.59 (n)
rat
(Rattus norvegicus)
Mammalia Ppp4r2 34
  • 85.55 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP4R2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP4R2 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP4R2 34 35
  • 79.42 (n)
lizard
(Anolis carolinensis)
Reptilia PPP4R2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp4r2 34
  • 69.08 (n)
Str.4043 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7493 34
zebrafish
(Danio rerio)
Actinopterygii ppp4r2a 35
  • 50 (a)
OneToMany
ppp4r2b 35
  • 47 (a)
OneToMany
wufe11b04 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14202 34
fruit fly
(Drosophila melanogaster)
Insecta PPP4R2r 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ppfr-2 35
  • 16 (a)
OneToOne
Species where no ortholog for PPP4R2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPP4R2 Gene

ENSEMBL:
Gene Tree for PPP4R2 (if available)
TreeFam:
Gene Tree for PPP4R2 (if available)

Paralogs for PPP4R2 Gene

No data available for Paralogs for PPP4R2 Gene

Variants for PPP4R2 Gene

Sequence variations from dbSNP and Humsavar for PPP4R2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000001682 -- 73,033,817(+) GCTTT(C/T)AGGGT intron-variant
rs1000100460 -- 73,038,851(+) TATTG(C/T)CTGAA intron-variant
rs1000104804 -- 73,025,158(+) TGGGA(A/G)CCATG intron-variant
rs1000139143 -- 73,044,443(+) TAGCT(C/G)GACGT intron-variant
rs1000176054 -- 73,005,872(+) TTGAC(A/T)TACAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPP4R2 Gene

Variant ID Type Subtype PubMed ID
dgv2537n106 CNV deletion 24896259
esv2667846 CNV deletion 23128226
esv2763278 CNV gain 21179565
esv3562064 CNV deletion 23714750
esv3596550 CNV loss 21293372
nsv1005234 CNV gain 25217958
nsv1117341 CNV tandem duplication 24896259
nsv1127969 CNV deletion 24896259
nsv238064 CNV insertion 16902084
nsv460703 CNV loss 19166990
nsv513052 CNV loss 21212237
nsv528982 CNV gain 19592680
nsv590634 CNV loss 21841781
nsv965174 CNV duplication 23825009
nsv979842 CNV duplication 23825009

Variation tolerance for PPP4R2 Gene

Residual Variation Intolerance Score: 70.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPP4R2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP4R2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP4R2 Gene

Disorders for PPP4R2 Gene

Relevant External Links for PPP4R2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP4R2

No disorders were found for PPP4R2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPP4R2 Gene

Publications for PPP4R2 Gene

  1. A novel 50 kDa protein forms complexes with protein phosphatase 4 and is located at centrosomal microtubule organizing centres. (PMID: 10769191) Hastie C.J. … Cohen P.T.W. (Biochem. J. 2000) 2 3 4 64
  2. A PP4 phosphatase complex dephosphorylates RPA2 to facilitate DNA repair via homologous recombination. (PMID: 20154705) Lee D.H. … Chowdhury D. (Nat. Struct. Mol. Biol. 2010) 3 4 64
  3. A PP4-phosphatase complex dephosphorylates gamma-H2AX generated during DNA replication. (PMID: 18614045) Chowdhury D. … Lieberman J. (Mol. Cell 2008) 3 4 64
  4. Protein phosphatase 4 interacts with the survival of motor neurons complex and enhances the temporal localisation of snRNPs. (PMID: 12668731) Carnegie G.K. … Cohen P.T.W. (J. Cell Sci. 2003) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for PPP4R2 Gene

Sources for PPP4R2 Gene

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