Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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 (Hinxton)ENSG00000077522 [Gene_View]  chr1:236849754-236927927 [Contig_View]  ACTN2 [Vega]
AceView (NCBI)ACTN2
Genatlas (Paris)ACTN2
WikiGenes88
SOURCE (Princeton)NM_001103 NM_001278343 NM_001278344
Genomic and cartography
GoldenPath (UCSC)ACTN2  -  1q43   chr1:236849754-236927927 +  1q43   [Description]    (hg19-Feb_2009)
EnsemblACTN2 - 1q43 [CytoView]
Mapping of homologs : NCBIACTN2 [Mapview]
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 ]
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
InParanoidP35609
Interologous Interaction database P35609
IntegromeDBACTN2
STRING (EMBL)ACTN2
Ontologies - Pathways
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  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  
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  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  
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)   
REACTOMEACTN2
Protein Interaction DatabaseACTN2
Wikipedia pathwaysACTN2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACTN2
SNP (GeneSNP Utah)ACTN2
SNP : HGBaseACTN2
Genetic variants : HAPMAPACTN2
1000_GenomesACTN2 
ICGC programENSG00000077522 
Somatic Mutations in Cancer : COSMICACTN2 
CONAN: Copy Number AnalysisACTN2 
Mutations and Diseases : HGMDACTN2
OMIM102573    612158   
GENETestsACTN2
Disease Genetic AssociationACTN2
Huge Navigator ACTN2 [HugePedia]  ACTN2 [HugeCancerGEM]
Genomic VariantsACTN2  ACTN2 [DGVbeta]
Exome VariantACTN2
dbVarACTN2
ClinVarACTN2
snp3D : Map Gene to Disease88
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
PubMed100 Pubmed reference(s) in Entrez
CoreMineACTN2
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:09:31 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.