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... See more...

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 4
  • 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. Diseases associated with PPP4R2 include Ulceroglandular Tularemia and Retinitis Pigmentosa 6. Among its related pathways are DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include protein binding, bridging.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for PPP4R2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP4R2 Gene

Genomics for PPP4R2 Gene

GeneHancer (GH) Regulatory Elements for PPP4R2 Gene

Promoters and enhancers for PPP4R2 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
GH03J072995 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 531.3 +1.2 1198 4.8 ZBTB40 CTCF ZSCAN5C NRF1 POLR2G GTF2E2 PHF8 ZFX REST POLR2A PPP4R2 lnc-SHQ1-2 EBLN2 RF00017-4049 GXYLT2 lnc-GXYLT2-1
GH03J072972 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 24.5 -23.7 -23664 2.1 EP300 NCOR1 KDM6A TCF7 SKI TRIM22 TBX3 ESRRA ZNF384 SRF PPP4R2 GXYLT2 EBLN2 HSALNG0026839 piR-36323-002 lnc-GXYLT2-1
GH03J073052 Enhancer 1 Ensembl ENCODE 31.7 +58.1 58098 6.6 FOXK2 CTCF ZSCAN5C NCOR1 KDM6A TCF7 RFX1 ZBTB25 RAD21 SKI PPP4R2 SHQ1 RNU2-64P EBLN2 RF00066-131 RNU7-19P lnc-GXYLT2-1
GH03J073028 Enhancer 0.9 ENCODE dbSUPER 29.1 +32.8 32815 2 FOS RELA ZBTB17 GATA3 ZNF263 RBM22 NFE2 JUND EZH2 STAT3 RF00066-131 RNU7-19P PPP4R2 EBLN2 lnc-GXYLT2-1
GH03J073037 Enhancer 0.8 ENCODE dbSUPER 27.8 +41.2 41218 1.3 SMARCC2 PBX2 RBM22 SPI1 NR2F2 JUND ZNF189 RXRA GATA2 KDM1A PPP4R2 RF00066-131 RNU7-19P EBLN2 lnc-GXYLT2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP4R2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP4R2

Top Transcription factor binding sites by QIAGEN in the PPP4R2 gene promoter:
  • AhR
  • Arnt
  • Bach2
  • E2F
  • E2F-1
  • NF-E2
  • NF-E2 p45
  • SREBP-1c
  • TBP
  • TFIID

Genomic Locations for PPP4R2 Gene

Genomic Locations for PPP4R2 Gene
chr3:72,996,803-73,069,198
(GRCh38/hg38)
Size:
72,396 bases
Orientation:
Plus strand
chr3:73,045,936-73,118,350
(GRCh37/hg19)
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 Lys15, Lys84, Lys55, 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

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein phosphatase 4 regulatory subunit 2 (PP4R2_HUMAN)

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.

Phenotypes From GWAS Catalog for PPP4R2 Gene

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:
  • Ppp4r2 Ppp4r2<tm2b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP4R2

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 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPP4R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 20154705
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
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:0006470 protein dephosphorylation IBA 21873635
GO:0008380 RNA splicing IEA --
GO:0010569 regulation of double-strand break repair via homologous recombination IMP 20154705
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

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP4R2

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

Expression for PPP4R2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PPP4R2 Gene



Protein tissue co-expression partners for PPP4R2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPP4R2 31 30
  • 94.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPP4R2 31 30
  • 94.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp4r2 17 31 30
  • 85.59 (n)
rat
(Rattus norvegicus)
Mammalia Ppp4r2 30
  • 85.55 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP4R2 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP4R2 31
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP4R2 31 30
  • 79.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP4R2 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp4r2 30
  • 69.08 (n)
Str.4043 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7493 30
zebrafish
(Danio rerio)
Actinopterygii ppp4r2a 31
  • 50 (a)
OneToMany
ppp4r2b 31
  • 47 (a)
OneToMany
wufe11b04 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14202 30
fruit fly
(Drosophila melanogaster)
Insecta PPP4R2r 31
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ppfr-2 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PPP4R2: view image

Paralogs for PPP4R2 Gene

No data available for Paralogs for PPP4R2 Gene

Variants for PPP4R2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP4R2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs2306983 - p.Pro174Leu
rs34742137 - p.Ser282Cys

Additional dbSNP identifiers (rs#s) for PPP4R2 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for PPP4R2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ulceroglandular tularemia
retinitis pigmentosa 6
  • rp6
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP4R2

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

No data available for 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 CJ … Cohen PT (The Biochemical journal 2000) 2 3 4 54
  2. A PP4 phosphatase complex dephosphorylates RPA2 to facilitate DNA repair via homologous recombination. (PMID: 20154705) Lee DH … Chowdhury D (Nature structural & molecular biology 2010) 3 4 54
  3. A PP4-phosphatase complex dephosphorylates gamma-H2AX generated during DNA replication. (PMID: 18614045) Chowdhury D … Lieberman J (Molecular cell 2008) 3 4 54
  4. Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs. (PMID: 12668731) Carnegie GK … Cohen PT (Journal of cell science 2003) 3 4 54
  5. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3 54

Products for PPP4R2 Gene

Sources for PPP4R2 Gene