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PPP6R2 (protein phosphatase 6, regulatory subunit 2)

Identity

Alias_namesKIAA0685
SAPS2
KIAA0685
SAPS domain family, member 2
protein phosphatase 6, regulatory subunit 2
Alias_symbol (synonym)dJ579N16.1
SAP190
Other aliasPP6R2
HGNC (Hugo) PPP6R2
LocusID (NCBI) 9701
Atlas_Id 72159
Location 22q13.33  [Link to chromosome band 22q13]
Location_base_pair Starts at 50781746 and ends at 50883518 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NEAT1 (11q13.1) / PPP6R2 (22q13.33)PPP6R2 (22q13.33) / EMID1 (22q12.2)PPP6R2 (22q13.33) / INTS3 (1q21.3)
PPP6R2 (22q13.33) / PPP1R13L (19q13.32)PPP6R2 (22q13.33) / PPP6R2 (22q13.33)PPP6R2 (22q13.33) / SQSTM1 (5q35.3)
PPP6R2 (22q13.33) / UBE2B (5q31.1)SHANK3 (22q13.33) / PPP6R2 (22q13.33)SPECC1L (22q11.23) / PPP6R2 (22q13.33)
TYMP (22q13.33) / PPP6R2 (22q13.33)SPECC1L PPP6R2TYMP PPP6R2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PPP6R2   19253
Cards
Entrez_Gene (NCBI)PPP6R2  9701  protein phosphatase 6, regulatory subunit 2
AliasesKIAA0685; PP6R2; SAP190; SAPS2
GeneCards (Weizmann)PPP6R2
Ensembl hg19 (Hinxton)ENSG00000100239 [Gene_View]  chr22:50781746-50883518 [Contig_View]  PPP6R2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100239 [Gene_View]  chr22:50781746-50883518 [Contig_View]  PPP6R2 [Vega]
ICGC DataPortalENSG00000100239
TCGA cBioPortalPPP6R2
AceView (NCBI)PPP6R2
Genatlas (Paris)PPP6R2
WikiGenes9701
SOURCE (Princeton)PPP6R2
Genetics Home Reference (NIH)PPP6R2
Genomic and cartography
GoldenPath hg19 (UCSC)PPP6R2  -     chr22:50781746-50883518 +  22q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PPP6R2  -     22q13.33   [Description]    (hg38-Dec_2013)
EnsemblPPP6R2 - 22q13.33 [CytoView hg19]  PPP6R2 - 22q13.33 [CytoView hg38]
Mapping of homologs : NCBIPPP6R2 [Mapview hg19]  PPP6R2 [Mapview hg38]
OMIM610877   
Gene and transcription
Genbank (Entrez)AA743798 AB014585 AK002063 AK022669 AK024148
RefSeq transcript (Entrez)NM_001242898 NM_001242899 NM_001242900 NM_014678
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011526 NW_004929431
Consensus coding sequences : CCDS (NCBI)PPP6R2
Cluster EST : UnigeneHs.740776 [ NCBI ]
CGAP (NCI)Hs.740776
Alternative Splicing GalleryENSG00000100239
Gene ExpressionPPP6R2 [ NCBI-GEO ]   PPP6R2 [ EBI - ARRAY_EXPRESS ]   PPP6R2 [ SEEK ]   PPP6R2 [ MEM ]
Gene Expression Viewer (FireBrowse)PPP6R2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9701
GTEX Portal (Tissue expression)PPP6R2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75170   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75170  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75170
Splice isoforms : SwissVarO75170
PhosPhoSitePlusO75170
Domains : Interpro (EBI)ARM-type_fold    SAPS   
Domain families : Pfam (Sanger)SAPS (PF04499)   
Domain families : Pfam (NCBI)pfam04499   
Conserved Domain (NCBI)PPP6R2
DMDM Disease mutations9701
Blocks (Seattle)PPP6R2
SuperfamilyO75170
Human Protein AtlasENSG00000100239
Peptide AtlasO75170
HPRD11102
IPIIPI00414872   IPI00375638   IPI00853540   IPI00853587   IPI00939295   IPI00942736   IPI00641415   IPI00852739   IPI00787162   
Protein Interaction databases
DIP (DOE-UCLA)O75170
IntAct (EBI)O75170
FunCoupENSG00000100239
BioGRIDPPP6R2
STRING (EMBL)PPP6R2
ZODIACPPP6R2
Ontologies - Pathways
QuickGOO75170
Ontology : AmiGOprotein binding  cytoplasm  intracellular membrane-bounded organelle  
Ontology : EGO-EBIprotein binding  cytoplasm  intracellular membrane-bounded organelle  
NDEx NetworkPPP6R2
Atlas of Cancer Signalling NetworkPPP6R2
Wikipedia pathwaysPPP6R2
Orthology - Evolution
OrthoDB9701
GeneTree (enSembl)ENSG00000100239
Phylogenetic Trees/Animal Genes : TreeFamPPP6R2
HOVERGENO75170
HOGENOMO75170
Homologs : HomoloGenePPP6R2
Homology/Alignments : Family Browser (UCSC)PPP6R2
Gene fusions - Rearrangements
Fusion: TCGASPECC1L PPP6R2
Fusion: TCGATYMP PPP6R2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPP6R2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPP6R2
dbVarPPP6R2
ClinVarPPP6R2
1000_GenomesPPP6R2 
Exome Variant ServerPPP6R2
ExAC (Exome Aggregation Consortium)PPP6R2 (select the gene name)
Genetic variants : HAPMAP9701
Genomic Variants (DGV)PPP6R2 [DGVbeta]
DECIPHER (Syndromes)22:50781746-50883518  ENSG00000100239
CONAN: Copy Number AnalysisPPP6R2 
Mutations
ICGC Data PortalPPP6R2 
TCGA Data PortalPPP6R2 
Broad Tumor PortalPPP6R2
OASIS PortalPPP6R2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPP6R2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPP6R2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PPP6R2
DgiDB (Drug Gene Interaction Database)PPP6R2
DoCM (Curated mutations)PPP6R2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPP6R2 (select a term)
intoGenPPP6R2
Cancer3DPPP6R2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610877   
Orphanet
MedgenPPP6R2
Genetic Testing Registry PPP6R2
NextProtO75170 [Medical]
TSGene9701
GENETestsPPP6R2
Huge Navigator PPP6R2 [HugePedia]
snp3D : Map Gene to Disease9701
BioCentury BCIQPPP6R2
ClinGenPPP6R2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9701
Chemical/Pharm GKB GenePA165378360
Clinical trialPPP6R2
Miscellaneous
canSAR (ICR)PPP6R2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPP6R2
EVEXPPP6R2
GoPubMedPPP6R2
iHOPPPP6R2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:39:29 CET 2017

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