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PPFIA2 (PTPRF interacting protein alpha 2)

Identity

Alias_namesprotein tyrosine phosphatase
Other alias-
HGNC (Hugo) PPFIA2
LocusID (NCBI) 8499
Atlas_Id 41797
Location 12q21.31  [Link to chromosome band 12q21]
Location_base_pair Starts at 81257975 and ends at 81759330 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PPFIA2 (12q21.31) / DPY19L2 (12q14.2)PPFIA2 (12q21.31) / SON (21q22.11)TMTC2 (12q21.31) / PPFIA2 (12q21.31)
PPFIA2 12q21.31 / DPY19L2 12q14.2TMTC2 12q21.31 / PPFIA2 12q21.31

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(12;12)(q14;q21) PPFIA2/DPY19L2
TMTC2/PPFIA2 (12q21)


External links

Nomenclature
HGNC (Hugo)PPFIA2   9246
Cards
Entrez_Gene (NCBI)PPFIA2  8499  PTPRF interacting protein alpha 2
Aliases
GeneCards (Weizmann)PPFIA2
Ensembl hg19 (Hinxton)ENSG00000139220 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139220 [Gene_View]  ENSG00000139220 [Sequence]  chr12:81257975-81759330 [Contig_View]  PPFIA2 [Vega]
ICGC DataPortalENSG00000139220
TCGA cBioPortalPPFIA2
AceView (NCBI)PPFIA2
Genatlas (Paris)PPFIA2
WikiGenes8499
SOURCE (Princeton)PPFIA2
Genetics Home Reference (NIH)PPFIA2
Genomic and cartography
GoldenPath hg38 (UCSC)PPFIA2  -     chr12:81257975-81759330 -  12q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPFIA2  -     12q21.31   [Description]    (hg19-Feb_2009)
EnsemblPPFIA2 - 12q21.31 [CytoView hg19]  PPFIA2 - 12q21.31 [CytoView hg38]
Mapping of homologs : NCBIPPFIA2 [Mapview hg19]  PPFIA2 [Mapview hg38]
OMIM603143   
Gene and transcription
Genbank (Entrez)AB210009 AF034799 AK123372 AK126971 AK294505
RefSeq transcript (Entrez)NM_001220473 NM_001220474 NM_001220475 NM_001220476 NM_001220477 NM_001220478 NM_001220479 NM_001220480 NM_001282536 NM_003625
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPFIA2
Cluster EST : UnigeneHs.737103 [ NCBI ]
CGAP (NCI)Hs.737103
Alternative Splicing GalleryENSG00000139220
Gene ExpressionPPFIA2 [ NCBI-GEO ]   PPFIA2 [ EBI - ARRAY_EXPRESS ]   PPFIA2 [ SEEK ]   PPFIA2 [ MEM ]
Gene Expression Viewer (FireBrowse)PPFIA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8499
GTEX Portal (Tissue expression)PPFIA2
Human Protein AtlasENSG00000139220-PPFIA2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75334   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75334  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75334
Splice isoforms : SwissVarO75334
PhosPhoSitePlusO75334
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)Liprin    Liprin-alpha_SAM_rpt_1    Liprin-alpha_SAM_rpt_2    Liprin-alpha_SAM_rpt_3    PPFIA2    SAM    SAM/pointed_sf   
Domain families : Pfam (Sanger)SAM_1 (PF00536)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam00536    pfam07647   
Domain families : Smart (EMBL)SAM (SM00454)  
Conserved Domain (NCBI)PPFIA2
DMDM Disease mutations8499
Blocks (Seattle)PPFIA2
PDB (SRS)3TAC    3TAD   
PDB (PDBSum)3TAC    3TAD   
PDB (IMB)3TAC    3TAD   
PDB (RSDB)3TAC    3TAD   
Structural Biology KnowledgeBase3TAC    3TAD   
SCOP (Structural Classification of Proteins)3TAC    3TAD   
CATH (Classification of proteins structures)3TAC    3TAD   
SuperfamilyO75334
Human Protein Atlas [tissue]ENSG00000139220-PPFIA2 [tissue]
Peptide AtlasO75334
HPRD04392
IPIIPI00289271   IPI01011450   IPI01015892   IPI00922534   IPI00942213   IPI00795341   IPI01021771   IPI01022586   IPI01022752   IPI01020968   IPI01021120   IPI01021931   IPI01022091   IPI01022911   IPI01023069   IPI01022352   IPI01021282   IPI01021957   IPI01022110   IPI01014624   IPI01020821   
Protein Interaction databases
DIP (DOE-UCLA)O75334
IntAct (EBI)O75334
FunCoupENSG00000139220
BioGRIDPPFIA2
STRING (EMBL)PPFIA2
ZODIACPPFIA2
Ontologies - Pathways
QuickGOO75334
Ontology : AmiGOprotein binding  cytoplasm  cytosol  cell-matrix adhesion  cell surface  presynaptic active zone  extracellular exosome  glutamatergic synapse  presynapse organization  structural constituent of presynapse  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  cell-matrix adhesion  cell surface  presynaptic active zone  extracellular exosome  glutamatergic synapse  presynapse organization  structural constituent of presynapse  regulation of synaptic vesicle exocytosis  
NDEx NetworkPPFIA2
Atlas of Cancer Signalling NetworkPPFIA2
Wikipedia pathwaysPPFIA2
Orthology - Evolution
OrthoDB8499
GeneTree (enSembl)ENSG00000139220
Phylogenetic Trees/Animal Genes : TreeFamPPFIA2
HOVERGENO75334
HOGENOMO75334
Homologs : HomoloGenePPFIA2
Homology/Alignments : Family Browser (UCSC)PPFIA2
Gene fusions - Rearrangements
Fusion : MitelmanPPFIA2/DPY19L2 [12q21.31/12q14.2]  
Fusion : MitelmanTMTC2/PPFIA2 [12q21.31/12q21.31]  [t(12;12)(q21;q21)]  
Fusion PortalPPFIA2 12q21.31 DPY19L2 12q14.2 GBM
Fusion PortalTMTC2 12q21.31 PPFIA2 12q21.31 BRCA
Fusion : QuiverPPFIA2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPFIA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPFIA2
dbVarPPFIA2
ClinVarPPFIA2
1000_GenomesPPFIA2 
Exome Variant ServerPPFIA2
ExAC (Exome Aggregation Consortium)ENSG00000139220
GNOMAD BrowserENSG00000139220
Varsome BrowserPPFIA2
Genetic variants : HAPMAP8499
Genomic Variants (DGV)PPFIA2 [DGVbeta]
DECIPHERPPFIA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPFIA2 
Mutations
ICGC Data PortalPPFIA2 
TCGA Data PortalPPFIA2 
Broad Tumor PortalPPFIA2
OASIS PortalPPFIA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPFIA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPFIA2
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 PPFIA2
DgiDB (Drug Gene Interaction Database)PPFIA2
DoCM (Curated mutations)PPFIA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPFIA2 (select a term)
intoGenPPFIA2
Cancer3DPPFIA2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603143   
Orphanet
DisGeNETPPFIA2
MedgenPPFIA2
Genetic Testing Registry PPFIA2
NextProtO75334 [Medical]
TSGene8499
GENETestsPPFIA2
Target ValidationPPFIA2
Huge Navigator PPFIA2 [HugePedia]
snp3D : Map Gene to Disease8499
BioCentury BCIQPPFIA2
ClinGenPPFIA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8499
Chemical/Pharm GKB GenePA33567
Clinical trialPPFIA2
Miscellaneous
canSAR (ICR)PPFIA2 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPFIA2
EVEXPPFIA2
GoPubMedPPFIA2
iHOPPPFIA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:31:29 CET 2018

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