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CAPZB (capping actin protein of muscle Z-line subunit beta)

Identity

Alias (NCBI)CAPB
CAPPB
CAPZ
HGNC (Hugo) CAPZB
HGNC Previous namecapping protein (actin filament) muscle Z-line, beta
 capping actin protein of muscle Z-line beta subunit
LocusID (NCBI) 832
Atlas_Id 911
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 19338775 and ends at 19485539 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)
ACTN4 (19q13.2) / CAPZB (1p36.13)CAPZB (1p36.13) / CAPZB (1p36.13)CAPZB (1p36.13) / CFL1 (11q13.1)
CAPZB (1p36.13) / ITGB1 (10p11.22)CAPZB (1p36.13) / MYLK (3q21.1)CAPZB (1p36.13) / NECAP2 (1p36.13)
CAPZB (1p36.13) / PDE2A (11q13.4)CAPZB (1p36.13) / SCEL (13q22.3)CAPZB (1p36.13) / SPSB1 (1p36.22)
CAPZB (1p36.13) / UBR4 (1p36.13)DESI2 (1q44) / CAPZB (1p36.13)EMC1 (1p36.13) / CAPZB (1p36.13)
ITM2C (2q37.1) / CAPZB (1p36.13)JUNB (19p13.2) / CAPZB (1p36.13)NCOA2 (8q13.3) / CAPZB (1p36.13)
RNASEK-C17orf49 (17p13.1) / CAPZB (1p36.13)SLC2A1 (1p34.2) / CAPZB (1p36.13)THRAP3 (1p34.3) / CAPZB (1p36.13)
UBR4 (1p36.13) / CAPZB (1p36.13)ACTN4 19q13.2 / CAPZB 1p36.13CAPZB 1p36.13 / CFL1 11q13.1
CAPZB 1p36.13 / SCEL 13q22.3THRAP3 1p34.3 / CAPZB 1p36.13

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;1)(q24;q25) RCSD1/ABL2::inv(1)(q24q25) RCSD1/ABL2


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(1;1)(p34;p36) THRAP3/CAPZB
CAPZB/UBR4 (1p36)
t(1;11)(p36;q13) CAPZB/CFL1
t(1;13)(p36;q22) CAPZB/SCEL
t(1;19)(p36;q13) ACTN4/CAPZB


External links

Nomenclature
HGNC (Hugo)CAPZB   1491
Cards
Entrez_Gene (NCBI)CAPZB    capping actin protein of muscle Z-line subunit beta
AliasesCAPB; CAPPB; CAPZ
GeneCards (Weizmann)CAPZB
Ensembl hg19 (Hinxton)ENSG00000077549 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000077549 [Gene_View]  ENSG00000077549 [Sequence]  chr1:19338775-19485539 [Contig_View]  CAPZB [Vega]
ICGC DataPortalENSG00000077549
TCGA cBioPortalCAPZB
AceView (NCBI)CAPZB
Genatlas (Paris)CAPZB
SOURCE (Princeton)CAPZB
Genetics Home Reference (NIH)CAPZB
Genomic and cartography
GoldenPath hg38 (UCSC)CAPZB  -     chr1:19338775-19485539 -  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPZB  -     1p36.13   [Description]    (hg19-Feb_2009)
GoldenPathCAPZB - 1p36.13 [CytoView hg19]  CAPZB - 1p36.13 [CytoView hg38]
ImmunoBaseENSG00000077549
genome Data Viewer NCBICAPZB [Mapview hg19]  
OMIM601572   
Gene and transcription
Genbank (Entrez)AI799520 AK022336 AK125085 AK126650 AK301442
RefSeq transcript (Entrez)NM_001206540 NM_001206541 NM_001282162 NM_001313932 NM_004930
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAPZB
Alternative Splicing GalleryENSG00000077549
Gene ExpressionCAPZB [ NCBI-GEO ]   CAPZB [ EBI - ARRAY_EXPRESS ]   CAPZB [ SEEK ]   CAPZB [ MEM ]
Gene Expression Viewer (FireBrowse)CAPZB [ Firebrowse - Broad ]
GenevisibleExpression of CAPZB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)832
GTEX Portal (Tissue expression)CAPZB
Human Protein AtlasENSG00000077549-CAPZB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP47756   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP47756  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP47756
Splice isoforms : SwissVarP47756
PhosPhoSitePlusP47756
Domaine pattern : Prosite (Expaxy)F_ACTIN_CAPPING_BETA (PS00231)   
Domains : Interpro (EBI)CapZ_alpha/beta    CapZ_alpha/beta_2    CAPZB    F-actin_capping_bsu_CS   
Domain families : Pfam (Sanger)F_actin_cap_B (PF01115)   
Domain families : Pfam (NCBI)pfam01115   
Conserved Domain (NCBI)CAPZB
Blocks (Seattle)CAPZB
SuperfamilyP47756
Human Protein Atlas [tissue]ENSG00000077549-CAPZB [tissue]
Peptide AtlasP47756
HPRD11872
IPIIPI00026185   IPI00642256   IPI00218782   IPI00646047   IPI00903103   IPI01013714   
Protein Interaction databases
DIP (DOE-UCLA)P47756
IntAct (EBI)P47756
BioGRIDCAPZB
STRING (EMBL)CAPZB
ZODIACCAPZB
Ontologies - Pathways
QuickGOP47756
Ontology : AmiGOcell morphogenesis  actin binding  protein binding  cytosol  cytoskeleton  ER to Golgi vesicle-mediated transport  cytoskeleton organization  blood coagulation  F-actin capping protein complex  regulation of lamellipodium assembly  actin cytoskeleton  antigen processing and presentation of exogenous peptide antigen via MHC class II  regulation of cell morphogenesis  sarcomere  actin cytoskeleton organization  cadherin binding  actin filament binding  barbed-end actin filament capping  negative regulation of filopodium assembly  extracellular exosome  WASH complex  
Ontology : EGO-EBIcell morphogenesis  actin binding  protein binding  cytosol  cytoskeleton  ER to Golgi vesicle-mediated transport  cytoskeleton organization  blood coagulation  F-actin capping protein complex  regulation of lamellipodium assembly  actin cytoskeleton  antigen processing and presentation of exogenous peptide antigen via MHC class II  regulation of cell morphogenesis  sarcomere  actin cytoskeleton organization  cadherin binding  actin filament binding  barbed-end actin filament capping  negative regulation of filopodium assembly  extracellular exosome  WASH complex  
NDEx NetworkCAPZB
Atlas of Cancer Signalling NetworkCAPZB
Wikipedia pathwaysCAPZB
Orthology - Evolution
OrthoDB832
GeneTree (enSembl)ENSG00000077549
Phylogenetic Trees/Animal Genes : TreeFamCAPZB
HOGENOMP47756
Homologs : HomoloGeneCAPZB
Homology/Alignments : Family Browser (UCSC)CAPZB
Gene fusions - Rearrangements
Fusion : MitelmanACTN4/CAPZB [19q13.2/1p36.13]  
Fusion : MitelmanCAPZB/CFL1 [1p36.13/11q13.1]  
Fusion : MitelmanCAPZB/SCEL [1p36.13/13q22.3]  
Fusion : MitelmanCAPZB/UBR4 [1p36.13/1p36.13]  
Fusion : MitelmanTHRAP3/CAPZB [1p34.3/1p36.13]  
Fusion PortalACTN4 19q13.2 CAPZB 1p36.13 BRCA
Fusion PortalCAPZB 1p36.13 CFL1 11q13.1 PRAD
Fusion PortalCAPZB 1p36.13 SCEL 13q22.3 BRCA
Fusion PortalTHRAP3 1p34.3 CAPZB 1p36.13 LUAD
Fusion : QuiverCAPZB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPZB [hg38]
dbVarCAPZB
ClinVarCAPZB
MonarchCAPZB
1000_GenomesCAPZB 
Exome Variant ServerCAPZB
GNOMAD BrowserENSG00000077549
Varsome BrowserCAPZB
Genomic Variants (DGV)CAPZB [DGVbeta]
DECIPHERCAPZB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAPZB 
Mutations
ICGC Data PortalCAPZB 
TCGA Data PortalCAPZB 
Broad Tumor PortalCAPZB
OASIS PortalCAPZB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPZB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCAPZB
Mutations and Diseases : HGMDCAPZB
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 CAPZB
DgiDB (Drug Gene Interaction Database)CAPZB
DoCM (Curated mutations)CAPZB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPZB (select a term)
intoGenCAPZB
Cancer3DCAPZB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601572   
Orphanet
DisGeNETCAPZB
MedgenCAPZB
Genetic Testing Registry CAPZB
NextProtP47756 [Medical]
GENETestsCAPZB
Target ValidationCAPZB
Huge Navigator CAPZB [HugePedia]
ClinGenCAPZB
Clinical trials, drugs, therapy
MyCancerGenomeCAPZB
Protein Interactions : CTD
Pharm GKB GenePA26072
Clinical trialCAPZB
Miscellaneous
canSAR (ICR)CAPZB (select the gene name)
HarmonizomeCAPZB
DataMed IndexCAPZB
Probes
Litterature
PubMed128 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCAPZB
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 : Sat Dec 5 20:41:38 CET 2020

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