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Aliases for PPP6R2 Gene

Aliases for PPP6R2 Gene

  • Protein Phosphatase 6 Regulatory Subunit 2 2 3 5
  • KIAA0685 2 3 4
  • SAPS Domain Family, Member 2 2 3
  • SAPS2 3 4
  • PP6R2 3 4
  • Serine/Threonine-Protein Phosphatase 6 Regulatory Subunit 2 3
  • Protein Phosphatase 6, Regulatory Subunit 2 2
  • SAPS Domain Family Member 2 4
  • SAP190 3

External Ids for PPP6R2 Gene

Previous HGNC Symbols for PPP6R2 Gene

  • KIAA0685
  • SAPS2

Previous GeneCards Identifiers for PPP6R2 Gene

  • GC22P050782
  • GC22P033700

Summaries for PPP6R2 Gene

Entrez Gene Summary for PPP6R2 Gene

  • The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]

GeneCards Summary for PPP6R2 Gene

PPP6R2 (Protein Phosphatase 6 Regulatory Subunit 2) is a Protein Coding gene. Diseases associated with PPP6R2 include Acute Cor Pulmonale and Acute Pulmonary Heart Disease. GO annotations related to this gene include binding. An important paralog of this gene is PPP6R3.

UniProtKB/Swiss-Prot for PPP6R2 Gene

  • Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.

Additional gene information for PPP6R2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP6R2 Gene

Genomics for PPP6R2 Gene

Regulatory Elements for PPP6R2 Gene

Enhancers for PPP6R2 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
GH22H050292 2 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -42.2 -42198 17 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 PIM3 PLXNB2 TYMP DENND6B LOC105373100 ODF3B BRD1 PPP6R2 MAPK12 MAPK11
GH22H050626 1.3 ENCODE dbSUPER 12.7 +284.7 284719 2 HDGF ZNF493 SIN3A ARID4B YBX1 GLI4 ZNF2 GLIS2 KLF7 RUNX3 BRD1 RABL2B ENSG00000272836 ZBED4 TUBGCP6 PLXNB2 ALG12 CHKB LOC105373095 NCAPH2
GH22H050339 1 ENCODE 13.7 -3.1 -3081 2 HDGF ZNF493 ZNF2 KLF7 ZNF488 ZNF585B GLIS1 MYNN NBN ZNF300 BRD1 ALG12 PLXNB2 RABL2B CHKB ENSG00000272836 ZBED4 LMF2 ENSG00000273192 LOC105373095
GH22H050386 1.2 Ensembl ENCODE 11.2 +44.2 44206 2 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 ZNF121 SLC30A9 SP5 NFYC PPP6R2 HDAC10 GC22P050399 GC22P050372
GH22H049942 2 FANTOM5 Ensembl ENCODE dbSUPER 5.2 -394.1 -394063 13 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ALG12 ENSG00000272836 RABL2B PLXNB2 TUBGCP6 ZBED4 LMF2 NCAPH2 CHKB BRD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPP6R2 on UCSC Golden Path with GeneCards custom track

Promoters for PPP6R2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147719 696 3200 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 GLIS2 ZNF143 SP3

Genomic Location for PPP6R2 Gene

Chromosome:
22
Start:
50,343,304 bp from pter
End:
50,445,090 bp from pter
Size:
101,787 bases
Orientation:
Plus strand

Genomic View for PPP6R2 Gene

Genes around PPP6R2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP6R2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP6R2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP6R2 Gene

Proteins for PPP6R2 Gene

  • Protein details for PPP6R2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75170-PP6R2_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 6 regulatory subunit 2
    Protein Accession:
    O75170
    Secondary Accessions:
    • A6PVG3
    • B7Z7T3
    • Q5U5P3
    • Q7Z2L2
    • Q7Z5G5
    • Q7Z731
    • Q9UGB9

    Protein attributes for PPP6R2 Gene

    Size:
    966 amino acids
    Molecular mass:
    104942 Da
    Quaternary structure:
    • Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6C and NFKBIE. Interacts with ANKRD28.
    SequenceCaution:
    • Sequence=BAA31660.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP6R2 Gene

neXtProt entry for PPP6R2 Gene

Post-translational modifications for PPP6R2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPP6R2 Gene

Domains & Families for PPP6R2 Gene

Gene Families for PPP6R2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PPP6R2 Gene

Suggested Antigen Peptide Sequences for PPP6R2 Gene

Graphical View of Domain Structure for InterPro Entry

O75170

UniProtKB/Swiss-Prot:

PP6R2_HUMAN :
  • Belongs to the SAPS family.
Family:
  • Belongs to the SAPS family.
genes like me logo Genes that share domains with PPP6R2: view

Function for PPP6R2 Gene

Molecular function for PPP6R2 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.

Phenotypes From GWAS Catalog for PPP6R2 Gene

Gene Ontology (GO) - Molecular Function for PPP6R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14743216
genes like me logo Genes that share ontologies with PPP6R2: view
genes like me logo Genes that share phenotypes with PPP6R2: view

Animal Models for PPP6R2 Gene

MGI Knock Outs for PPP6R2:

Animal Model Products

CRISPR Products

miRNA for PPP6R2 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PPP6R2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP6R2 Gene

Localization for PPP6R2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP6R2 Gene

Cytoplasm.

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 PPP6R2 gene
Compartment Confidence
cytosol 5
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP6R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with PPP6R2: view

Pathways & Interactions for PPP6R2 Gene

SuperPathways for PPP6R2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPP6R2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PPP6R2 Gene

Drugs & Compounds for PPP6R2 Gene

No Compound Related Data Available

Transcripts for PPP6R2 Gene

mRNA/cDNA for PPP6R2 Gene

Unigene Clusters for PPP6R2 Gene

Protein phosphatase 6, regulatory subunit 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PPP6R2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PPP6R2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a ·
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6: - - -
SP7: - - - - - - -
SP8:
SP9:
SP10: - - -
SP11: - - -
SP12: - - - - -
SP13: -
SP14: -
SP15:

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PPP6R2 Gene

GeneLoc Exon Structure for
PPP6R2
ECgene alternative splicing isoforms for
PPP6R2

Expression for PPP6R2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP6R2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP6R2 Gene

This gene is overexpressed in Bone (13.3), Lung (12.0), and Colon (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPP6R2 Gene



Protein tissue co-expression partners for PPP6R2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP6R2 Gene:

PPP6R2

SOURCE GeneReport for Unigene cluster for PPP6R2 Gene:

Hs.449098

mRNA Expression by UniProt/SwissProt for PPP6R2 Gene:

O75170-PP6R2_HUMAN
Tissue specificity: Ubiquitously expressed with strongest expression in the testis followed by liver, heart, kidney, brain and placenta.

Evidence on tissue expression from TISSUES for PPP6R2 Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Skin(4.3)
  • Muscle(4.2)
  • Lung(2.7)
  • Pancreas(2.4)
genes like me logo Genes that share expression patterns with PPP6R2: 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 PPP6R2 Gene

Orthologs for PPP6R2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPP6R2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP6R2 33 34
  • 99.04 (n)
mouse
(Mus musculus)
Mammalia Ppp6r2 33 16 34
  • 83.59 (n)
rat
(Rattus norvegicus)
Mammalia Ppp6r2 33
  • 83.24 (n)
dog
(Canis familiaris)
Mammalia PPP6R2 33 34
  • 83.22 (n)
cow
(Bos Taurus)
Mammalia PPP6R2 33 34
  • 82.23 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP6R2 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP6R2 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP6R2 33 34
  • 73.06 (n)
lizard
(Anolis carolinensis)
Reptilia PPP6R2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp6r2 33
  • 67.36 (n)
zebrafish
(Danio rerio)
Actinopterygii ppp6r2a 33 34
  • 66.84 (n)
ppp6r2b 34
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10289 34
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea saps-1 34
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAP190 34 36
  • 11 (a)
ManyToMany
SAP4 34
  • 11 (a)
ManyToMany
SAP185 34
  • 10 (a)
ManyToMany
SAP155 34
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8358 34
  • 49 (a)
OneToMany
Species where no ortholog for PPP6R2 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)
  • 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)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPP6R2 Gene

ENSEMBL:
Gene Tree for PPP6R2 (if available)
TreeFam:
Gene Tree for PPP6R2 (if available)

Paralogs for PPP6R2 Gene

Paralogs for PPP6R2 Gene

(2) SIMAP similar genes for PPP6R2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for PPP6R2 Gene

genes like me logo Genes that share paralogs with PPP6R2: view

Variants for PPP6R2 Gene

Sequence variations from dbSNP and Humsavar for PPP6R2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs193920858 Uncertain significance 50,440,025(+) GCAGC(C/T)GGAGC reference, missense
rs1000033269 -- 50,429,458(+) GGAGC(A/G)AATCC intron-variant
rs1000062128 -- 50,424,417(+) AGGTC(C/T)GTCCG intron-variant
rs1000088850 -- 50,343,558(+) GAGTG(A/C)GGCCG intron-variant
rs1000110499 -- 50,392,534(+) GGCCT(C/T)ACCCT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PPP6R2 Gene

Variant ID Type Subtype PubMed ID
dgv8138n54 CNV gain+loss 21841781
dgv8139n54 CNV loss 21841781
esv1021996 CNV insertion 17803354
esv23638 CNV loss 19812545
esv2660914 CNV deletion 23128226
esv2665408 CNV deletion 23128226
esv26897 CNV loss 19812545
esv3558383 CNV deletion 23714750
esv3648087 CNV loss 21293372
esv3648088 CNV loss 21293372
nsv1072227 CNV deletion 25765185
nsv1073177 CNV deletion 25765185
nsv1073178 CNV deletion 25765185
nsv1118958 CNV deletion 24896259
nsv1126020 CNV deletion 24896259
nsv1136699 CNV deletion 24896259
nsv1143266 CNV deletion 24896259
nsv191443 CNV deletion 16902084
nsv3668 CNV deletion 18451855
nsv471224 CNV loss 18288195
nsv475818 CNV novel sequence insertion 20440878
nsv512664 CNV loss 21212237
nsv589215 CNV gain 21841781
nsv589217 CNV loss 21841781
nsv589220 CNV loss 21841781
nsv589221 CNV loss 21841781
nsv820090 CNV loss 19587683
nsv821599 CNV deletion 20802225
nsv829337 CNV gain 20364138
nsv829338 CNV gain 20364138
nsv834238 CNV loss 17160897
nsv955200 CNV deletion 24416366
nsv955201 CNV deletion 24416366
nsv955492 CNV deletion 24416366

Variation tolerance for PPP6R2 Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPP6R2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP6R2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP6R2 Gene

Disorders for PPP6R2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPP6R2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute cor pulmonale
acute pulmonary heart disease
  • acute pulmonary heart disease nos
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PPP6R2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP6R2
genes like me logo Genes that share disorders with PPP6R2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP6R2 Gene

Publications for PPP6R2 Gene

  1. Protein phosphatase 6 subunit with conserved Sit4-associated protein domain targets IkappaBepsilon. (PMID: 16769727) Stefansson B … Brautigan DL (The Journal of biological chemistry 2006) 2 3 4 60
  2. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PMID: 18186651) Stefansson B … Brautigan DL (Biochemistry 2008) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 60
  5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 60

Products for PPP6R2 Gene

Sources for PPP6R2 Gene

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