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ACTN2 (actinin, alpha 2)

Identity

Other namesCMD1AA
HGNC (Hugo) ACTN2
LocusID (NCBI) 88
Location 1q43
Location_base_pair Starts at 236849754 and ends at 236927927 bp from pter ( according to hg19-Feb_2009)
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)ACTN2   164
Cards
Entrez_Gene (NCBI)ACTN2  88  actinin, alpha 2
GeneCards (Weizmann)ACTN2
Ensembl hg19 (Hinxton)ENSG00000077522 [Gene_View]  chr1:236849754-236927927 [Contig_View]  ACTN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000077522 [Gene_View]  chr1:236849754-236927927 [Contig_View]  ACTN2 [Vega]
ICGC DataPortalENSG00000077522
cBioPortalACTN2
AceView (NCBI)ACTN2
Genatlas (Paris)ACTN2
WikiGenes88
SOURCE (Princeton)ACTN2
Genomic and cartography
GoldenPath hg19 (UCSC)ACTN2  -     chr1:236849754-236927927 +  1q43   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACTN2  -     1q43   [Description]    (hg38-Dec_2013)
EnsemblACTN2 - 1q43 [CytoView hg19]  ACTN2 - 1q43 [CytoView hg38]
Mapping of homologs : NCBIACTN2 [Mapview hg19]  ACTN2 [Mapview hg38]
OMIM102573   612158   
Gene and transcription
Genbank (Entrez)AB209521 AK294906 AK297469 AK297618 AK297628
RefSeq transcript (Entrez)NM_001103 NM_001278343 NM_001278344
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_009081 NT_167186 NW_001838549 NW_004929294
Consensus coding sequences : CCDS (NCBI)ACTN2
Cluster EST : UnigeneHs.498178 [ NCBI ]
CGAP (NCI)Hs.498178
Alternative Splicing : Fast-db (Paris)GSHG0001568
Alternative Splicing GalleryENSG00000077522
Gene ExpressionACTN2 [ NCBI-GEO ]     ACTN2 [ SEEK ]   ACTN2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35609 (Uniprot)
NextProtP35609  [Medical]
With graphics : InterProP35609
Splice isoforms : SwissVarP35609 (Swissvar)
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    EF-hand-dom_pair    EF-hand_Ca_insen    EF_hand_dom    Spectrin/alpha-actinin    Spectrin_repeat   
Related proteins : CluSTrP35609
Domain families : Pfam (Sanger)CH (PF00307)    EFhand_Ca_insen (PF08726)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam08726    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  EFh (SM00054)  SPEC (SM00150)  
DMDM Disease mutations88
Blocks (Seattle)P35609
PDB (SRS)1H8B    1HCI    1QUU   
PDB (PDBSum)1H8B    1HCI    1QUU   
PDB (IMB)1H8B    1HCI    1QUU   
PDB (RSDB)1H8B    1HCI    1QUU   
Human Protein AtlasENSG00000077522
Peptide AtlasP35609
HPRD00019
IPIIPI00019884   IPI01010507   IPI01010091   IPI01009258   
Protein Interaction databases
DIP (DOE-UCLA)P35609
IntAct (EBI)P35609
FunCoupENSG00000077522
BioGRIDACTN2
IntegromeDBACTN2
STRING (EMBL)ACTN2
Ontologies - Pathways
QuickGOP35609
Ontology : AmiGOplatelet degranulation  integrin binding  calcium ion binding  protein binding  extracellular region  cytosol  cytoskeleton  actin filament  focal adhesion  cell adhesion  synaptic transmission  blood coagulation  cytoskeletal protein binding  structural constituent of muscle  Z disc  microspike assembly  muscle filament sliding  platelet activation  filopodium  LIM domain binding  thyroid hormone receptor coactivator activity  platelet alpha granule lumen  pseudopodium  titin binding  regulation of membrane potential  identical protein binding  regulation of apoptotic process  dendritic spine  negative regulation of potassium ion transport  positive regulation of potassium ion transport  ion channel binding  protein dimerization activity  focal adhesion assembly  actin filament binding  protein homotetramerization  FATZ binding  extracellular vesicular exosome  titin Z domain binding  negative regulation of potassium ion transmembrane transporter activity  positive regulation of potassium ion transmembrane transporter activity  negative regulation of protein localization to cell surface  positive regulation of receptor activity  regulation of RNA biosynthetic process  
Ontology : EGO-EBIplatelet degranulation  integrin binding  calcium ion binding  protein binding  extracellular region  cytosol  cytoskeleton  actin filament  focal adhesion  cell adhesion  synaptic transmission  blood coagulation  cytoskeletal protein binding  structural constituent of muscle  Z disc  microspike assembly  muscle filament sliding  platelet activation  filopodium  LIM domain binding  thyroid hormone receptor coactivator activity  platelet alpha granule lumen  pseudopodium  titin binding  regulation of membrane potential  identical protein binding  regulation of apoptotic process  dendritic spine  negative regulation of potassium ion transport  positive regulation of potassium ion transport  ion channel binding  protein dimerization activity  focal adhesion assembly  actin filament binding  protein homotetramerization  FATZ binding  extracellular vesicular exosome  titin Z domain binding  negative regulation of potassium ion transmembrane transporter activity  positive regulation of potassium ion transmembrane transporter activity  negative regulation of protein localization to cell surface  positive regulation of receptor activity  regulation of RNA biosynthetic process  
Pathways : BIOCARTAuCalpain and friends in Cell spread [Genes]    Cell to Cell Adhesion Signaling [Genes]    Integrin Signaling Pathway [Genes]   
Pathways : KEGGFocal adhesion    Adherens junction    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Amoebiasis    Viral carcinogenesis    Systemic lupus erythematosus    Arrhythmogenic right ventricular cardiomyopathy (ARVC)   
Protein Interaction DatabaseACTN2
DoCM (Curated mutations)ACTN2
Wikipedia pathwaysACTN2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerACTN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTN2
dbVarACTN2
ClinVarACTN2
1000_GenomesACTN2 
Exome Variant ServerACTN2
SNP (GeneSNP Utah)ACTN2
SNP : HGBaseACTN2
Genetic variants : HAPMAPACTN2
Genomic VariantsACTN2  ACTN2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000077522 
Somatic Mutations in Cancer : COSMICACTN2 
CONAN: Copy Number AnalysisACTN2 
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
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:236849754-236927927
Mutations and Diseases : HGMDACTN2
OMIM102573    612158   
MedgenACTN2
NextProtP35609 [Medical]
GENETestsACTN2
Disease Genetic AssociationACTN2
Huge Navigator ACTN2 [HugePedia]  ACTN2 [HugeCancerGEM]
snp3D : Map Gene to Disease88
DGIdb (Drug Gene Interaction db)ACTN2
General knowledge
Homologs : HomoloGeneACTN2
Homology/Alignments : Family Browser (UCSC)ACTN2
Phylogenetic Trees/Animal Genes : TreeFamACTN2
Chemical/Protein Interactions : CTD88
Chemical/Pharm GKB GenePA25
Clinical trialACTN2
Cancer Resource (Charite)ENSG00000077522
Other databases
Probes
Litterature
PubMed102 Pubmed reference(s) in Entrez
CoreMineACTN2
GoPubMedACTN2
iHOPACTN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:00:24 CET 2014

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