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CAPZA2 (capping actin protein of muscle Z-line alpha subunit 2)

Identity

Alias_namescapping protein (actin filament) muscle Z-line
Alias_symbol (synonym)CAPZ
CAPPA2
Other alias
HGNC (Hugo) CAPZA2
LocusID (NCBI) 830
Atlas_Id 54190
Location 7q31.2  [Link to chromosome band 7q31]
Location_base_pair Starts at 116862509 and ends at 116919259 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CAPZA2 (7q31.2) / MET (7q31.2)CAPZA2 (7q31.2) / TFEC (7q31.2)CAPZA2 (7q31.2) / TRIM28 (19q13.43)
LAMB1 (7q31.1) / CAPZA2 (7q31.2)PRPF39 (14q21.2) / CAPZA2 (7q31.2)ST7 (7q31.2) / CAPZA2 (7q31.2)
CAPZA2 7q31.2 / MET 7q31.2ST7 7q31.2 / CAPZA2 7q31.2

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)CAPZA2   1490
Cards
Entrez_Gene (NCBI)CAPZA2  830  capping actin protein of muscle Z-line alpha subunit 2
AliasesCAPPA2; CAPZ
GeneCards (Weizmann)CAPZA2
Ensembl hg19 (Hinxton)ENSG00000198898 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198898 [Gene_View]  chr7:116862509-116919259 [Contig_View]  CAPZA2 [Vega]
ICGC DataPortalENSG00000198898
TCGA cBioPortalCAPZA2
AceView (NCBI)CAPZA2
Genatlas (Paris)CAPZA2
WikiGenes830
SOURCE (Princeton)CAPZA2
Genetics Home Reference (NIH)CAPZA2
Genomic and cartography
GoldenPath hg38 (UCSC)CAPZA2  -     chr7:116862509-116919259 +  7q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPZA2  -     7q31.2   [Description]    (hg19-Feb_2009)
EnsemblCAPZA2 - 7q31.2 [CytoView hg19]  CAPZA2 - 7q31.2 [CytoView hg38]
Mapping of homologs : NCBICAPZA2 [Mapview hg19]  CAPZA2 [Mapview hg38]
OMIM601571   
Gene and transcription
Genbank (Entrez)AK222989 AK223004 AK293405 AK294409 AK311406
RefSeq transcript (Entrez)NM_006136
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAPZA2
Cluster EST : UnigeneHs.446123 [ NCBI ]
CGAP (NCI)Hs.446123
Alternative Splicing GalleryENSG00000198898
Gene ExpressionCAPZA2 [ NCBI-GEO ]   CAPZA2 [ EBI - ARRAY_EXPRESS ]   CAPZA2 [ SEEK ]   CAPZA2 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPZA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)830
GTEX Portal (Tissue expression)CAPZA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP47755   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP47755  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP47755
Splice isoforms : SwissVarP47755
PhosPhoSitePlusP47755
Domaine pattern : Prosite (Expaxy)F_ACTIN_CAPPING_A_1 (PS00748)    F_ACTIN_CAPPING_A_2 (PS00749)   
Domains : Interpro (EBI)CapZ_alpha    F-actin_cap_asu_CS   
Domain families : Pfam (Sanger)F-actin_cap_A (PF01267)   
Domain families : Pfam (NCBI)pfam01267   
Conserved Domain (NCBI)CAPZA2
DMDM Disease mutations830
Blocks (Seattle)CAPZA2
SuperfamilyP47755
Human Protein AtlasENSG00000198898
Peptide AtlasP47755
HPRD11871
IPIIPI00026182   IPI00908400   IPI00952611   IPI00879381   IPI00985078   IPI00945147   IPI00852796   
Protein Interaction databases
DIP (DOE-UCLA)P47755
IntAct (EBI)P47755
FunCoupENSG00000198898
BioGRIDCAPZA2
STRING (EMBL)CAPZA2
ZODIACCAPZA2
Ontologies - Pathways
QuickGOP47755
Ontology : AmiGOactin binding  extracellular region  cytosol  brush border  protein complex assembly  movement of cell or subcellular component  blood coagulation  F-actin capping protein complex  actin cytoskeleton  membrane  cortical cytoskeleton  innate immune response  barbed-end actin filament capping  extracellular exosome  
Ontology : EGO-EBIactin binding  extracellular region  cytosol  brush border  protein complex assembly  movement of cell or subcellular component  blood coagulation  F-actin capping protein complex  actin cytoskeleton  membrane  cortical cytoskeleton  innate immune response  barbed-end actin filament capping  extracellular exosome  
NDEx NetworkCAPZA2
Atlas of Cancer Signalling NetworkCAPZA2
Wikipedia pathwaysCAPZA2
Orthology - Evolution
OrthoDB830
GeneTree (enSembl)ENSG00000198898
Phylogenetic Trees/Animal Genes : TreeFamCAPZA2
HOVERGENP47755
HOGENOMP47755
Homologs : HomoloGeneCAPZA2
Homology/Alignments : Family Browser (UCSC)CAPZA2
Gene fusions - Rearrangements
Fusion : MitelmanCAPZA2/MET [7q31.2/7q31.2]  
Fusion : MitelmanCAPZA2/TRIM28 [7q31.2/19q13.43]  [t(7;19)(q31;q13)]  
Fusion : MitelmanLAMB1/CAPZA2 [7q31.1/7q31.2]  [inv(7)(q31q31)]  
Fusion : MitelmanST7/CAPZA2 [7q31.2/7q31.2]  [t(7;7)(q31;q31)]  
Fusion: TCGACAPZA2 7q31.2 MET 7q31.2 BRCA LUAD
Fusion: TCGAST7 7q31.2 CAPZA2 7q31.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPZA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPZA2
dbVarCAPZA2
ClinVarCAPZA2
1000_GenomesCAPZA2 
Exome Variant ServerCAPZA2
ExAC (Exome Aggregation Consortium)CAPZA2 (select the gene name)
Genetic variants : HAPMAP830
Genomic Variants (DGV)CAPZA2 [DGVbeta]
DECIPHERCAPZA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAPZA2 
Mutations
ICGC Data PortalCAPZA2 
TCGA Data PortalCAPZA2 
Broad Tumor PortalCAPZA2
OASIS PortalCAPZA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPZA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAPZA2
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 CAPZA2
DgiDB (Drug Gene Interaction Database)CAPZA2
DoCM (Curated mutations)CAPZA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPZA2 (select a term)
intoGenCAPZA2
Cancer3DCAPZA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601571   
Orphanet
MedgenCAPZA2
Genetic Testing Registry CAPZA2
NextProtP47755 [Medical]
TSGene830
GENETestsCAPZA2
Huge Navigator CAPZA2 [HugePedia]
snp3D : Map Gene to Disease830
BioCentury BCIQCAPZA2
ClinGenCAPZA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD830
Chemical/Pharm GKB GenePA26071
Clinical trialCAPZA2
Miscellaneous
canSAR (ICR)CAPZA2 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPZA2
EVEXCAPZA2
GoPubMedCAPZA2
iHOPCAPZA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:08:50 CEST 2017

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