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PHACTR2 (phosphatase and actin regulator 2)

Identity

Alias_namesC6orf56
chromosome 6 open reading frame 56
Alias_symbol (synonym)KIAA0680
Other alias
HGNC (Hugo) PHACTR2
LocusID (NCBI) 9749
Atlas_Id 71876
Location 6q24.2  [Link to chromosome band 6q24]
Location_base_pair Starts at 143677965 and ends at 143831185 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)
AFF1 (4q21.3) / PHACTR2 (6q24.2)MTRNR2L8 (11p15.4) / PHACTR2 (6q24.2)PHACTR2 (6q24.2) / AIG1 (6q24.2)
PHACTR2 (6q24.2) / PDZRN4 (12q12)PHACTR2 (6q24.2) / PHACTR2 (6q24.2)PHACTR2 (6q24.2) / PLAGL1 (6q24.2)
PHACTR2 (6q24.2) / ZC2HC1B (6q24.2)TPMT (6p22.3) / PHACTR2 (6q24.2)ZNF587 (19q13.43) / PHACTR2 (6q24.2)
PHACTR2 PLAGL1PHACTR2 AIG1

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(6;6)(q24;q24) PHACTR2/PLAGL1
t(6;6)(q24;q24) PHACTR2/AIG1


External links

Nomenclature
HGNC (Hugo)PHACTR2   20956
Cards
Entrez_Gene (NCBI)PHACTR2  9749  phosphatase and actin regulator 2
AliasesC6orf56
GeneCards (Weizmann)PHACTR2
Ensembl hg19 (Hinxton)ENSG00000112419 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112419 [Gene_View]  ENSG00000112419 [Sequence]  chr6:143677965-143831185 [Contig_View]  PHACTR2 [Vega]
ICGC DataPortalENSG00000112419
TCGA cBioPortalPHACTR2
AceView (NCBI)PHACTR2
Genatlas (Paris)PHACTR2
WikiGenes9749
SOURCE (Princeton)PHACTR2
Genetics Home Reference (NIH)PHACTR2
Genomic and cartography
GoldenPath hg38 (UCSC)PHACTR2  -     chr6:143677965-143831185 +  6q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHACTR2  -     6q24.2   [Description]    (hg19-Feb_2009)
EnsemblPHACTR2 - 6q24.2 [CytoView hg19]  PHACTR2 - 6q24.2 [CytoView hg38]
Mapping of homologs : NCBIPHACTR2 [Mapview hg19]  PHACTR2 [Mapview hg38]
OMIM608724   
Gene and transcription
Genbank (Entrez)AB014580 AK297799 AK298263 AK300221 BC150630
RefSeq transcript (Entrez)NM_001100164 NM_001100165 NM_001100166 NM_014721
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHACTR2
Cluster EST : UnigeneHs.102471 [ NCBI ]
CGAP (NCI)Hs.102471
Alternative Splicing GalleryENSG00000112419
Gene ExpressionPHACTR2 [ NCBI-GEO ]   PHACTR2 [ EBI - ARRAY_EXPRESS ]   PHACTR2 [ SEEK ]   PHACTR2 [ MEM ]
Gene Expression Viewer (FireBrowse)PHACTR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9749
GTEX Portal (Tissue expression)PHACTR2
Human Protein AtlasENSG00000112419-PHACTR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75167   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75167  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75167
Splice isoforms : SwissVarO75167
PhosPhoSitePlusO75167
Domaine pattern : Prosite (Expaxy)RPEL (PS51073)   
Domains : Interpro (EBI)Phactr2    RPEL_repeat   
Domain families : Pfam (Sanger)RPEL (PF02755)   
Domain families : Pfam (NCBI)pfam02755   
Domain families : Smart (EMBL)RPEL (SM00707)  
Conserved Domain (NCBI)PHACTR2
DMDM Disease mutations9749
Blocks (Seattle)PHACTR2
SuperfamilyO75167
Human Protein Atlas [tissue]ENSG00000112419-PHACTR2 [tissue]
Peptide AtlasO75167
HPRD16378
IPIIPI00401142   IPI00470906   IPI00856051   IPI00855887   IPI00514979   IPI00902708   IPI01011715   IPI01011211   
Protein Interaction databases
DIP (DOE-UCLA)O75167
IntAct (EBI)O75167
FunCoupENSG00000112419
BioGRIDPHACTR2
STRING (EMBL)PHACTR2
ZODIACPHACTR2
Ontologies - Pathways
QuickGOO75167
Ontology : AmiGOplatelet degranulation  actin binding  protein phosphatase inhibitor activity  protein binding  plasma membrane  platelet alpha granule membrane  negative regulation of catalytic activity  
Ontology : EGO-EBIplatelet degranulation  actin binding  protein phosphatase inhibitor activity  protein binding  plasma membrane  platelet alpha granule membrane  negative regulation of catalytic activity  
NDEx NetworkPHACTR2
Atlas of Cancer Signalling NetworkPHACTR2
Wikipedia pathwaysPHACTR2
Orthology - Evolution
OrthoDB9749
GeneTree (enSembl)ENSG00000112419
Phylogenetic Trees/Animal Genes : TreeFamPHACTR2
HOVERGENO75167
HOGENOMO75167
Homologs : HomoloGenePHACTR2
Homology/Alignments : Family Browser (UCSC)PHACTR2
Gene fusions - Rearrangements
Fusion PortalPHACTR2 PLAGL1
Fusion PortalPHACTR2 AIG1
Fusion : QuiverPHACTR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHACTR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHACTR2
dbVarPHACTR2
ClinVarPHACTR2
1000_GenomesPHACTR2 
Exome Variant ServerPHACTR2
ExAC (Exome Aggregation Consortium)ENSG00000112419
GNOMAD BrowserENSG00000112419
Varsome BrowserPHACTR2
Genetic variants : HAPMAP9749
Genomic Variants (DGV)PHACTR2 [DGVbeta]
DECIPHERPHACTR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHACTR2 
Mutations
ICGC Data PortalPHACTR2 
TCGA Data PortalPHACTR2 
Broad Tumor PortalPHACTR2
OASIS PortalPHACTR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHACTR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHACTR2
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 PHACTR2
DgiDB (Drug Gene Interaction Database)PHACTR2
DoCM (Curated mutations)PHACTR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHACTR2 (select a term)
intoGenPHACTR2
Cancer3DPHACTR2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608724   
Orphanet
DisGeNETPHACTR2
MedgenPHACTR2
Genetic Testing Registry PHACTR2
NextProtO75167 [Medical]
TSGene9749
GENETestsPHACTR2
Target ValidationPHACTR2
Huge Navigator PHACTR2 [HugePedia]
snp3D : Map Gene to Disease9749
BioCentury BCIQPHACTR2
ClinGenPHACTR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9749
Chemical/Pharm GKB GenePA134944445
Clinical trialPHACTR2
Miscellaneous
canSAR (ICR)PHACTR2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHACTR2
EVEXPHACTR2
GoPubMedPHACTR2
iHOPPHACTR2
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 : Mon Jul 30 14:23:46 CEST 2018

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