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PFN3 (profilin 3)

Identity

Other alias-
HGNC (Hugo) PFN3
LocusID (NCBI) 345456
Atlas_Id 71849
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 177400107 and ends at 177400636 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)
PPM1K (4q22.1) / PFN3 (5q35.3)

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)PFN3   18627
Cards
Entrez_Gene (NCBI)PFN3  345456  profilin 3
Aliases
GeneCards (Weizmann)PFN3
Ensembl hg19 (Hinxton)ENSG00000196570 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196570 [Gene_View]  chr5:177400107-177400636 [Contig_View]  PFN3 [Vega]
ICGC DataPortalENSG00000196570
TCGA cBioPortalPFN3
AceView (NCBI)PFN3
Genatlas (Paris)PFN3
WikiGenes345456
SOURCE (Princeton)PFN3
Genetics Home Reference (NIH)PFN3
Genomic and cartography
GoldenPath hg38 (UCSC)PFN3  -     chr5:177400107-177400636 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PFN3  -     5q35.3   [Description]    (hg19-Feb_2009)
EnsemblPFN3 - 5q35.3 [CytoView hg19]  PFN3 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBIPFN3 [Mapview hg19]  PFN3 [Mapview hg38]
OMIM612812   
Gene and transcription
Genbank (Entrez)AA909745 BC132952 BC132954
RefSeq transcript (Entrez)NM_001029886
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PFN3
Cluster EST : UnigeneHs.130196 [ NCBI ]
CGAP (NCI)Hs.130196
Alternative Splicing GalleryENSG00000196570
Gene ExpressionPFN3 [ NCBI-GEO ]   PFN3 [ EBI - ARRAY_EXPRESS ]   PFN3 [ SEEK ]   PFN3 [ MEM ]
Gene Expression Viewer (FireBrowse)PFN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)345456
GTEX Portal (Tissue expression)PFN3
Human Protein AtlasENSG00000196570-PFN3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP60673   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP60673  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP60673
Splice isoforms : SwissVarP60673
PhosPhoSitePlusP60673
Domains : Interpro (EBI)PFN    PFN3    Profilin1/2/3_vertebrate   
Domain families : Pfam (Sanger)Profilin (PF00235)   
Domain families : Pfam (NCBI)pfam00235   
Domain families : Smart (EMBL)PROF (SM00392)  
Conserved Domain (NCBI)PFN3
DMDM Disease mutations345456
Blocks (Seattle)PFN3
SuperfamilyP60673
Human Protein Atlas [tissue]ENSG00000196570-PFN3 [tissue]
Peptide AtlasP60673
IPIIPI00235167   
Protein Interaction databases
DIP (DOE-UCLA)P60673
IntAct (EBI)P60673
FunCoupENSG00000196570
BioGRIDPFN3
STRING (EMBL)PFN3
ZODIACPFN3
Ontologies - Pathways
QuickGOP60673
Ontology : AmiGOactin binding  nucleus  cytoplasm  cytoskeleton  lipid binding  actin cytoskeleton organization  regulation of actin filament polymerization  positive regulation of actin filament bundle assembly  
Ontology : EGO-EBIactin binding  nucleus  cytoplasm  cytoskeleton  lipid binding  actin cytoskeleton organization  regulation of actin filament polymerization  positive regulation of actin filament bundle assembly  
Pathways : KEGGRap1 signaling pathway    Regulation of actin cytoskeleton    Shigellosis    Salmonella infection   
NDEx NetworkPFN3
Atlas of Cancer Signalling NetworkPFN3
Wikipedia pathwaysPFN3
Orthology - Evolution
OrthoDB345456
GeneTree (enSembl)ENSG00000196570
Phylogenetic Trees/Animal Genes : TreeFamPFN3
HOVERGENP60673
HOGENOMP60673
Homologs : HomoloGenePFN3
Homology/Alignments : Family Browser (UCSC)PFN3
Gene fusions - Rearrangements
Fusion: Tumor Portal PFN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFN3
dbVarPFN3
ClinVarPFN3
1000_GenomesPFN3 
Exome Variant ServerPFN3
ExAC (Exome Aggregation Consortium)ENSG00000196570
GNOMAD BrowserENSG00000196570
Genetic variants : HAPMAP345456
Genomic Variants (DGV)PFN3 [DGVbeta]
DECIPHERPFN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPFN3 
Mutations
ICGC Data PortalPFN3 
TCGA Data PortalPFN3 
Broad Tumor PortalPFN3
OASIS PortalPFN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPFN3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PFN3
DgiDB (Drug Gene Interaction Database)PFN3
DoCM (Curated mutations)PFN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PFN3 (select a term)
intoGenPFN3
Cancer3DPFN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612812   
Orphanet
MedgenPFN3
Genetic Testing Registry PFN3
NextProtP60673 [Medical]
TSGene345456
GENETestsPFN3
Target ValidationPFN3
Huge Navigator PFN3 [HugePedia]
snp3D : Map Gene to Disease345456
BioCentury BCIQPFN3
ClinGenPFN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD345456
Chemical/Pharm GKB GenePA142671182
Clinical trialPFN3
Miscellaneous
canSAR (ICR)PFN3 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePFN3
EVEXPFN3
GoPubMedPFN3
iHOPPFN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:22:18 CET 2017

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