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PFN2 (profilin 2)

Identity

Other aliasD3S1319E
PFL
HGNC (Hugo) PFN2
LocusID (NCBI) 5217
Atlas_Id 52601
Location 3q25.1  [Link to chromosome band 3q25]
Location_base_pair Starts at 149964905 and ends at 149970954 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)
ARF1 (1q42.13) / PFN2 (3q25.1)PFN2 (3q25.1) / HLCS (21q22.13)PFN2 (3q25.1) / PFN2 (3q25.1)
PFN2 (3q25.1) / PTPN12 (7q11.23)

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)PFN2   8882
Cards
Entrez_Gene (NCBI)PFN2  5217  profilin 2
AliasesD3S1319E; PFL
GeneCards (Weizmann)PFN2
Ensembl hg19 (Hinxton)ENSG00000070087 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070087 [Gene_View]  chr3:149964905-149970954 [Contig_View]  PFN2 [Vega]
ICGC DataPortalENSG00000070087
TCGA cBioPortalPFN2
AceView (NCBI)PFN2
Genatlas (Paris)PFN2
WikiGenes5217
SOURCE (Princeton)PFN2
Genetics Home Reference (NIH)PFN2
Genomic and cartography
GoldenPath hg38 (UCSC)PFN2  -     chr3:149964905-149970954 -  3q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PFN2  -     3q25.1   [Description]    (hg19-Feb_2009)
EnsemblPFN2 - 3q25.1 [CytoView hg19]  PFN2 - 3q25.1 [CytoView hg38]
Mapping of homologs : NCBIPFN2 [Mapview hg19]  PFN2 [Mapview hg38]
OMIM176590   
Gene and transcription
Genbank (Entrez)AF228738 AK297915 AK307227 AK311780 AK311782
RefSeq transcript (Entrez)NM_002628 NM_053024
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PFN2
Cluster EST : UnigeneHs.91747 [ NCBI ]
CGAP (NCI)Hs.91747
Alternative Splicing GalleryENSG00000070087
Gene ExpressionPFN2 [ NCBI-GEO ]   PFN2 [ EBI - ARRAY_EXPRESS ]   PFN2 [ SEEK ]   PFN2 [ MEM ]
Gene Expression Viewer (FireBrowse)PFN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5217
GTEX Portal (Tissue expression)PFN2
Human Protein AtlasENSG00000070087-PFN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35080   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35080  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35080
Splice isoforms : SwissVarP35080
PhosPhoSitePlusP35080
Domaine pattern : Prosite (Expaxy)PROFILIN (PS00414)   
Domains : Interpro (EBI)PFN    PFN2    Profilin1/2/3_vertebrate    Profilin_CS   
Domain families : Pfam (Sanger)Profilin (PF00235)   
Domain families : Pfam (NCBI)pfam00235   
Domain families : Smart (EMBL)PROF (SM00392)  
Conserved Domain (NCBI)PFN2
DMDM Disease mutations5217
Blocks (Seattle)PFN2
PDB (SRS)1D1J   
PDB (PDBSum)1D1J   
PDB (IMB)1D1J   
PDB (RSDB)1D1J   
Structural Biology KnowledgeBase1D1J   
SCOP (Structural Classification of Proteins)1D1J   
CATH (Classification of proteins structures)1D1J   
SuperfamilyP35080
Human Protein Atlas [tissue]ENSG00000070087-PFN2 [tissue]
Peptide AtlasP35080
HPRD01451
IPIIPI00061475   
Protein Interaction databases
DIP (DOE-UCLA)P35080
IntAct (EBI)P35080
FunCoupENSG00000070087
BioGRIDPFN2
STRING (EMBL)PFN2
ZODIACPFN2
Ontologies - Pathways
QuickGOP35080
Ontology : AmiGOactin monomer binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  cytoskeleton  negative regulation of epithelial cell migration  ATPase activity  actin cytoskeleton organization  negative regulation of actin filament polymerization  positive regulation of actin filament polymerization  positive regulation of actin filament bundle assembly  positive regulation of ATPase activity  positive regulation of peptidyl-serine phosphorylation  terminal bouton  protein stabilization  positive regulation of stress fiber assembly  extracellular exosome  negative regulation of ruffle assembly  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBIactin monomer binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  cytoskeleton  negative regulation of epithelial cell migration  ATPase activity  actin cytoskeleton organization  negative regulation of actin filament polymerization  positive regulation of actin filament polymerization  positive regulation of actin filament bundle assembly  positive regulation of ATPase activity  positive regulation of peptidyl-serine phosphorylation  terminal bouton  protein stabilization  positive regulation of stress fiber assembly  extracellular exosome  negative regulation of ruffle assembly  regulation of synaptic vesicle exocytosis  
Pathways : KEGGRap1 signaling pathway    Regulation of actin cytoskeleton    Shigellosis    Salmonella infection   
NDEx NetworkPFN2
Atlas of Cancer Signalling NetworkPFN2
Wikipedia pathwaysPFN2
Orthology - Evolution
OrthoDB5217
GeneTree (enSembl)ENSG00000070087
Phylogenetic Trees/Animal Genes : TreeFamPFN2
HOVERGENP35080
HOGENOMP35080
Homologs : HomoloGenePFN2
Homology/Alignments : Family Browser (UCSC)PFN2
Gene fusions - Rearrangements
Tumor Fusion PortalPFN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFN2
dbVarPFN2
ClinVarPFN2
1000_GenomesPFN2 
Exome Variant ServerPFN2
ExAC (Exome Aggregation Consortium)ENSG00000070087
GNOMAD BrowserENSG00000070087
Genetic variants : HAPMAP5217
Genomic Variants (DGV)PFN2 [DGVbeta]
DECIPHERPFN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPFN2 
Mutations
ICGC Data PortalPFN2 
TCGA Data PortalPFN2 
Broad Tumor PortalPFN2
OASIS PortalPFN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPFN2
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 PFN2
DgiDB (Drug Gene Interaction Database)PFN2
DoCM (Curated mutations)PFN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PFN2 (select a term)
intoGenPFN2
Cancer3DPFN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176590   
Orphanet
DisGeNETPFN2
MedgenPFN2
Genetic Testing Registry PFN2
NextProtP35080 [Medical]
TSGene5217
GENETestsPFN2
Target ValidationPFN2
Huge Navigator PFN2 [HugePedia]
snp3D : Map Gene to Disease5217
BioCentury BCIQPFN2
ClinGenPFN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5217
Chemical/Pharm GKB GenePA33220
Clinical trialPFN2
Miscellaneous
canSAR (ICR)PFN2 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePFN2
EVEXPFN2
GoPubMedPFN2
iHOPPFN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 14:28:28 CET 2017

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