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

HGNC (Hugo) ACTN2
LocusID (NCBI) 88
Atlas_Id 50941
Location 1q43  [Link to chromosome band 1q43]
Location_base_pair Starts at 236849754 and ends at 236927927 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACTN2 (1q43) / ACTN2 (1q43)ALKBH3 (11p11.2) / ACTN2 (1q43)

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
LRG (Locus Reference Genomic)LRG_436
Cards
Entrez_Gene (NCBI)ACTN2  88  actinin alpha 2
AliasesCMD1AA; CMH23
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
TCGA cBioPortalACTN2
AceView (NCBI)ACTN2
Genatlas (Paris)ACTN2
WikiGenes88
SOURCE (Princeton)ACTN2
Genetics Home Reference (NIH)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)NC_000001 NC_018912 NG_009081 NT_167186 NW_004929294
Consensus coding sequences : CCDS (NCBI)ACTN2
Cluster EST : UnigeneHs.498178 [ NCBI ]
CGAP (NCI)Hs.498178
Alternative Splicing GalleryENSG00000077522
Gene ExpressionACTN2 [ NCBI-GEO ]   ACTN2 [ EBI - ARRAY_EXPRESS ]   ACTN2 [ SEEK ]   ACTN2 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)88
GTEX Portal (Tissue expression)ACTN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35609   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35609  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35609
Splice isoforms : SwissVarP35609
PhosPhoSitePlusP35609
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   
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)  
Conserved Domain (NCBI)ACTN2
DMDM Disease mutations88
Blocks (Seattle)ACTN2
PDB (SRS)1H8B    1HCI    1QUU    4D1E   
PDB (PDBSum)1H8B    1HCI    1QUU    4D1E   
PDB (IMB)1H8B    1HCI    1QUU    4D1E   
PDB (RSDB)1H8B    1HCI    1QUU    4D1E   
Structural Biology KnowledgeBase1H8B    1HCI    1QUU    4D1E   
SCOP (Structural Classification of Proteins)1H8B    1HCI    1QUU    4D1E   
CATH (Classification of proteins structures)1H8B    1HCI    1QUU    4D1E   
SuperfamilyP35609
Human Protein AtlasENSG00000077522
Peptide AtlasP35609
HPRD00019
IPIIPI00019884   IPI01010507   IPI01010091   IPI01009258   
Protein Interaction databases
DIP (DOE-UCLA)P35609
IntAct (EBI)P35609
FunCoupENSG00000077522
BioGRIDACTN2
STRING (EMBL)ACTN2
ZODIACACTN2
Ontologies - Pathways
QuickGOP35609
Ontology : AmiGOMAPK cascade  platelet degranulation  Ras guanyl-nucleotide exchange factor activity  integrin binding  calcium ion binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  extracellular region  cytosol  cytoskeleton  actin filament  plasma membrane  focal adhesion  cell adhesion  cytoskeletal protein binding  structural constituent of muscle  protein domain specific binding  Z disc  microspike assembly  muscle filament sliding  filopodium  LIM domain binding  thyroid hormone receptor coactivator activity  cortical actin cytoskeleton  platelet alpha granule lumen  pseudopodium  titin binding  regulation of membrane potential  identical protein binding  protein homodimerization activity  regulation of apoptotic process  dendritic spine  negative regulation of potassium ion transport  positive regulation of potassium ion transport  positive regulation of GTPase activity  ion channel binding  sarcomere organization  protein dimerization activity  focal adhesion assembly  actin filament binding  protein homotetramerization  FATZ binding  actin filament uncapping  cardiac muscle cell development  extracellular exosome  titin Z domain binding  titin Z domain binding  phospholipase C-activating angiotensin-activated signaling pathway  establishment of protein localization to plasma membrane  negative regulation of potassium ion transmembrane transporter activity  positive regulation of potassium ion transmembrane transporter activity  regulation of nucleic acid-templated transcription  negative regulation of protein localization to cell surface  positive regulation of receptor activity  positive regulation of endocytic recycling  positive regulation of cation channel activity  
Ontology : EGO-EBIMAPK cascade  platelet degranulation  Ras guanyl-nucleotide exchange factor activity  integrin binding  calcium ion binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  extracellular region  cytosol  cytoskeleton  actin filament  plasma membrane  focal adhesion  cell adhesion  cytoskeletal protein binding  structural constituent of muscle  protein domain specific binding  Z disc  microspike assembly  muscle filament sliding  filopodium  LIM domain binding  thyroid hormone receptor coactivator activity  cortical actin cytoskeleton  platelet alpha granule lumen  pseudopodium  titin binding  regulation of membrane potential  identical protein binding  protein homodimerization activity  regulation of apoptotic process  dendritic spine  negative regulation of potassium ion transport  positive regulation of potassium ion transport  positive regulation of GTPase activity  ion channel binding  sarcomere organization  protein dimerization activity  focal adhesion assembly  actin filament binding  protein homotetramerization  FATZ binding  actin filament uncapping  cardiac muscle cell development  extracellular exosome  titin Z domain binding  titin Z domain binding  phospholipase C-activating angiotensin-activated signaling pathway  establishment of protein localization to plasma membrane  negative regulation of potassium ion transmembrane transporter activity  positive regulation of potassium ion transmembrane transporter activity  regulation of nucleic acid-templated transcription  negative regulation of protein localization to cell surface  positive regulation of receptor activity  positive regulation of endocytic recycling  positive regulation of cation channel activity  
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)   
NDEx NetworkACTN2
Atlas of Cancer Signalling NetworkACTN2
Wikipedia pathwaysACTN2
Orthology - Evolution
OrthoDB88
GeneTree (enSembl)ENSG00000077522
Phylogenetic Trees/Animal Genes : TreeFamACTN2
HOVERGENP35609
HOGENOMP35609
Homologs : HomoloGeneACTN2
Homology/Alignments : Family Browser (UCSC)ACTN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTN2
dbVarACTN2
ClinVarACTN2
1000_GenomesACTN2 
Exome Variant ServerACTN2
ExAC (Exome Aggregation Consortium)ACTN2 (select the gene name)
Genetic variants : HAPMAP88
Genomic Variants (DGV)ACTN2 [DGVbeta]
DECIPHER (Syndromes)1:236849754-236927927  ENSG00000077522
CONAN: Copy Number AnalysisACTN2 
Mutations
ICGC Data PortalACTN2 
TCGA Data PortalACTN2 
Broad Tumor PortalACTN2
OASIS PortalACTN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACTN2
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
BioMutasearch ACTN2
DgiDB (Drug Gene Interaction Database)ACTN2
DoCM (Curated mutations)ACTN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTN2 (select a term)
intoGenACTN2
Cancer3DACTN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102573    612158   
Orphanet635   
MedgenACTN2
Genetic Testing Registry ACTN2
NextProtP35609 [Medical]
TSGene88
GENETestsACTN2
Huge Navigator ACTN2 [HugePedia]
snp3D : Map Gene to Disease88
BioCentury BCIQACTN2
ClinGenACTN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD88
Chemical/Pharm GKB GenePA25
Clinical trialACTN2
Miscellaneous
canSAR (ICR)ACTN2 (select the gene name)
Probes
Litterature
PubMed106 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTN2
EVEXACTN2
GoPubMedACTN2
iHOPACTN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:30:06 CET 2016

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.