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PPFIA3 (PTPRF interacting protein alpha 3)

Identity

Alias_namesprotein tyrosine phosphatase
Alias_symbol (synonym)KIAA0654
LPNA3
MGC126567
MGC126569
Other alias
HGNC (Hugo) PPFIA3
LocusID (NCBI) 8541
Atlas_Id 47056
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49119389 and ends at 49151030 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GYS1 (19q13.33) / PPFIA3 (19q13.33)ITPKC (19q13.2) / PPFIA3 (19q13.33)PPFIA3 (19q13.33) / ANK1 (8p11.21)
PPFIA3 (19q13.33) / ERBB2 (17q12)SH2B3 (12q24.12) / PPFIA3 (19q13.33)TRPM4 (19q13.33) / PPFIA3 (19q13.33)
PPFIA3 19q13.33 / ANK1 8p11.21TRPM4 19q13.33 / PPFIA3 19q13.33

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)PPFIA3   9247
Cards
Entrez_Gene (NCBI)PPFIA3  8541  PTPRF interacting protein alpha 3
AliasesLPNA3
GeneCards (Weizmann)PPFIA3
Ensembl hg19 (Hinxton)ENSG00000177380 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177380 [Gene_View]  chr19:49119389-49151030 [Contig_View]  PPFIA3 [Vega]
ICGC DataPortalENSG00000177380
TCGA cBioPortalPPFIA3
AceView (NCBI)PPFIA3
Genatlas (Paris)PPFIA3
WikiGenes8541
SOURCE (Princeton)PPFIA3
Genetics Home Reference (NIH)PPFIA3
Genomic and cartography
GoldenPath hg38 (UCSC)PPFIA3  -     chr19:49119389-49151030 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPFIA3  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblPPFIA3 - 19q13.33 [CytoView hg19]  PPFIA3 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIPPFIA3 [Mapview hg19]  PPFIA3 [Mapview hg38]
OMIM603144   
Gene and transcription
Genbank (Entrez)AB014554 AF034800 AI346749 AK001525 AK023850
RefSeq transcript (Entrez)NM_003660
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPFIA3
Cluster EST : UnigeneHs.604638 [ NCBI ]
CGAP (NCI)Hs.604638
Alternative Splicing GalleryENSG00000177380
Gene ExpressionPPFIA3 [ NCBI-GEO ]   PPFIA3 [ EBI - ARRAY_EXPRESS ]   PPFIA3 [ SEEK ]   PPFIA3 [ MEM ]
Gene Expression Viewer (FireBrowse)PPFIA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8541
GTEX Portal (Tissue expression)PPFIA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75145   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75145  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75145
Splice isoforms : SwissVarO75145
PhosPhoSitePlusO75145
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)Liprin    PPFIA3    SAM    SAM/pointed   
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)PPFIA3
DMDM Disease mutations8541
Blocks (Seattle)PPFIA3
SuperfamilyO75145
Human Protein AtlasENSG00000177380
Peptide AtlasO75145
HPRD04393
IPIIPI00398364   IPI00398365   IPI00910052   
Protein Interaction databases
DIP (DOE-UCLA)O75145
IntAct (EBI)O75145
FunCoupENSG00000177380
BioGRIDPPFIA3
STRING (EMBL)PPFIA3
ZODIACPPFIA3
Ontologies - Pathways
QuickGOO75145
Ontology : AmiGOacrosomal vesicle  protein binding  cytosol  neurotransmitter secretion  neurotransmitter secretion  glutamate secretion  regulation of short-term neuronal synaptic plasticity  presynaptic active zone  epididymosome  
Ontology : EGO-EBIacrosomal vesicle  protein binding  cytosol  neurotransmitter secretion  neurotransmitter secretion  glutamate secretion  regulation of short-term neuronal synaptic plasticity  presynaptic active zone  epididymosome  
NDEx NetworkPPFIA3
Atlas of Cancer Signalling NetworkPPFIA3
Wikipedia pathwaysPPFIA3
Orthology - Evolution
OrthoDB8541
GeneTree (enSembl)ENSG00000177380
Phylogenetic Trees/Animal Genes : TreeFamPPFIA3
HOVERGENO75145
HOGENOMO75145
Homologs : HomoloGenePPFIA3
Homology/Alignments : Family Browser (UCSC)PPFIA3
Gene fusions - Rearrangements
Fusion : MitelmanITPKC/PPFIA3 [19q13.2/19q13.33]  [t(19;19)(q13;q13)]  
Fusion : MitelmanPPFIA3/ANK1 [19q13.33/8p11.21]  [t(8;19)(p11;q13)]  
Fusion : MitelmanTRPM4/PPFIA3 [19q13.33/19q13.33]  [t(19;19)(q13;q13)]  
Fusion: TCGAPPFIA3 19q13.33 ANK1 8p11.21 LUSC
Fusion: TCGATRPM4 19q13.33 PPFIA3 19q13.33 BRCA PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPFIA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPFIA3
dbVarPPFIA3
ClinVarPPFIA3
1000_GenomesPPFIA3 
Exome Variant ServerPPFIA3
ExAC (Exome Aggregation Consortium)PPFIA3 (select the gene name)
Genetic variants : HAPMAP8541
Genomic Variants (DGV)PPFIA3 [DGVbeta]
DECIPHERPPFIA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPFIA3 
Mutations
ICGC Data PortalPPFIA3 
TCGA Data PortalPPFIA3 
Broad Tumor PortalPPFIA3
OASIS PortalPPFIA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPFIA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPFIA3
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 PPFIA3
DgiDB (Drug Gene Interaction Database)PPFIA3
DoCM (Curated mutations)PPFIA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPFIA3 (select a term)
intoGenPPFIA3
Cancer3DPPFIA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603144   
Orphanet
MedgenPPFIA3
Genetic Testing Registry PPFIA3
NextProtO75145 [Medical]
TSGene8541
GENETestsPPFIA3
Target ValidationPPFIA3
Huge Navigator PPFIA3 [HugePedia]
snp3D : Map Gene to Disease8541
BioCentury BCIQPPFIA3
ClinGenPPFIA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8541
Chemical/Pharm GKB GenePA33568
Clinical trialPPFIA3
Miscellaneous
canSAR (ICR)PPFIA3 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPFIA3
EVEXPPFIA3
GoPubMedPPFIA3
iHOPPPFIA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:50:30 CEST 2017

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