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CAPN3 (calpain 3)

Identity

Other namesCANP3
CANPL3
LGMD2
LGMD2A
nCL-1
p94
HGNC (Hugo) CAPN3
LocusID (NCBI) 825
Atlas_Id 50412
Location 15q15.1  [Link to chromosome band 15q15]
Location_base_pair Starts at 42651698 and ends at 42704515 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CAPN3 (15q15.1) / ANKH (5p15.2)CHRNA2 (8p21.2) / CAPN3 (15q15.1)TMEM170A (16q23.1) / CAPN3 (15q15.1)

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)CAPN3   1480
Cards
Entrez_Gene (NCBI)CAPN3  825  calpain 3
AliasesCANP3; CANPL3; LGMD2; LGMD2A; 
nCL-1; p94
GeneCards (Weizmann)CAPN3
Ensembl hg19 (Hinxton)ENSG00000092529 [Gene_View]  chr15:42651698-42704515 [Contig_View]  CAPN3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000092529 [Gene_View]  chr15:42651698-42704515 [Contig_View]  CAPN3 [Vega]
ICGC DataPortalENSG00000092529
TCGA cBioPortalCAPN3
AceView (NCBI)CAPN3
Genatlas (Paris)CAPN3
WikiGenes825
SOURCE (Princeton)CAPN3
Genomic and cartography
GoldenPath hg19 (UCSC)CAPN3  -     chr15:42651698-42704515 +  15q15.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CAPN3  -     15q15.1   [Description]    (hg38-Dec_2013)
EnsemblCAPN3 - 15q15.1 [CytoView hg19]  CAPN3 - 15q15.1 [CytoView hg38]
Mapping of homologs : NCBICAPN3 [Mapview hg19]  CAPN3 [Mapview hg38]
OMIM114240   253600   
Gene and transcription
Genbank (Entrez)AF127764 AF127765 AF147441 AK027249 AK293792
RefSeq transcript (Entrez)NM_000070 NM_024344 NM_173087 NM_173088 NM_173089 NM_173090 NM_212465
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_008660 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)CAPN3
Cluster EST : UnigeneHs.143261 [ NCBI ]
CGAP (NCI)Hs.143261
Alternative Splicing GalleryENSG00000092529
Gene ExpressionCAPN3 [ NCBI-GEO ]   CAPN3 [ EBI - ARRAY_EXPRESS ]   CAPN3 [ SEEK ]   CAPN3 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)825
GTEX Portal (Tissue expression)CAPN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20807 (Uniprot)
NextProtP20807  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20807
Splice isoforms : SwissVarP20807 (Swissvar)
Catalytic activity : Enzyme3.4.22.54 [ Enzyme-Expasy ]   3.4.22.543.4.22.54 [ IntEnz-EBI ]   3.4.22.54 [ BRENDA ]   3.4.22.54 [ KEGG ]   
PhosPhoSitePlusP20807
Domaine pattern : Prosite (Expaxy)CALPAIN_CAT (PS50203)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    THIOL_PROTEASE_CYS (PS00139)   
Domains : Interpro (EBI)Calpain_cysteine_protease    Calpain_domain_III    Calpain_III    CAPN3    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    Pept_cys_AS    Peptidase_C2_calpain_cat   
Domain families : Pfam (Sanger)Calpain_III (PF01067)    EF-hand_5 (PF13202)    EF-hand_8 (PF13833)    Peptidase_C2 (PF00648)   
Domain families : Pfam (NCBI)pfam01067    pfam13202    pfam13833    pfam00648   
Domain families : Smart (EMBL)calpain_III (SM00720)  CysPc (SM00230)  EFh (SM00054)  
DMDM Disease mutations825
Blocks (Seattle)CAPN3
PDB (SRS)1Y9V    4OKH   
PDB (PDBSum)1Y9V    4OKH   
PDB (IMB)1Y9V    4OKH   
PDB (RSDB)1Y9V    4OKH   
Structural Biology KnowledgeBase1Y9V    4OKH   
SCOP (Structural Classification of Proteins)1Y9V    4OKH   
CATH (Classification of proteins structures)1Y9V    4OKH   
SuperfamilyP20807
Human Protein AtlasENSG00000092529
Peptide AtlasP20807
HPRD00255
IPIIPI00025819   IPI00218763   IPI00748752   IPI00791842   IPI00218764   IPI00175639   IPI01019125   IPI00939965   IPI00414279   IPI00549214   
Protein Interaction databases
DIP (DOE-UCLA)P20807
IntAct (EBI)P20807
FunCoupENSG00000092529
BioGRIDCAPN3
STRING (EMBL)CAPN3
ZODIACCAPN3
Ontologies - Pathways
QuickGOP20807
Ontology : AmiGOautolysis  catalytic activity  calcium-dependent cysteine-type endopeptidase activity  calcium-dependent cysteine-type endopeptidase activity  signal transducer activity  calcium ion binding  protein binding  intracellular  nucleus  cytoplasm  cytosol  plasma membrane  protein complex assembly  proteolysis  apoptotic process  signal transduction  muscle organ development  peptidase activity  cysteine-type peptidase activity  structural constituent of muscle  positive regulation of satellite cell activation involved in skeletal muscle regeneration  response to muscle activity  myofibril  Z disc  myofibril assembly  myofibril assembly  T-tubule  sodium ion binding  titin binding  protein complex scaffold  negative regulation of protein sumoylation  negative regulation of apoptotic process  regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  sarcomere organization  regulation of myoblast differentiation  positive regulation of proteolysis  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  muscle cell cellular homeostasis  regulation of catalytic activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of release of sequestered calcium ion into cytosol  response to calcium ion  ligase regulator activity  muscle structure development  G1 to G0 transition involved in cell differentiation  cellular response to calcium ion  cellular response to salt stress  protein localization to membrane  self proteolysis  negative regulation of skeletal muscle cell differentiation  
Ontology : EGO-EBIautolysis  catalytic activity  calcium-dependent cysteine-type endopeptidase activity  calcium-dependent cysteine-type endopeptidase activity  signal transducer activity  calcium ion binding  protein binding  intracellular  nucleus  cytoplasm  cytosol  plasma membrane  protein complex assembly  proteolysis  apoptotic process  signal transduction  muscle organ development  peptidase activity  cysteine-type peptidase activity  structural constituent of muscle  positive regulation of satellite cell activation involved in skeletal muscle regeneration  response to muscle activity  myofibril  Z disc  myofibril assembly  myofibril assembly  T-tubule  sodium ion binding  titin binding  protein complex scaffold  negative regulation of protein sumoylation  negative regulation of apoptotic process  regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  sarcomere organization  regulation of myoblast differentiation  positive regulation of proteolysis  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  muscle cell cellular homeostasis  regulation of catalytic activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of release of sequestered calcium ion into cytosol  response to calcium ion  ligase regulator activity  muscle structure development  G1 to G0 transition involved in cell differentiation  cellular response to calcium ion  cellular response to salt stress  protein localization to membrane  self proteolysis  negative regulation of skeletal muscle cell differentiation  
NDEx Network
Atlas of Cancer Signalling NetworkCAPN3
Wikipedia pathwaysCAPN3
Orthology - Evolution
OrthoDB825
GeneTree (enSembl)ENSG00000092529
Phylogenetic Trees/Animal Genes : TreeFamCAPN3
Homologs : HomoloGeneCAPN3
Homology/Alignments : Family Browser (UCSC)CAPN3
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCAPN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPN3
dbVarCAPN3
ClinVarCAPN3
1000_GenomesCAPN3 
Exome Variant ServerCAPN3
ExAC (Exome Aggregation Consortium)CAPN3 (select the gene name)
Genetic variants : HAPMAP825
Genomic Variants (DGV)CAPN3 [DGVbeta]
Mutations
ICGC Data PortalCAPN3 
TCGA Data PortalCAPN3 
Broad Tumor PortalCAPN3
OASIS PortalCAPN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPN3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CAPN3
DgiDB (Drug Gene Interaction Database)CAPN3
DoCM (Curated mutations)CAPN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPN3 (select a term)
intoGenCAPN3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:42651698-42704515  ENSG00000092529
CONAN: Copy Number AnalysisCAPN3 
Mutations and Diseases : HGMDCAPN3
OMIM114240    253600   
MedgenCAPN3
Genetic Testing Registry CAPN3
NextProtP20807 [Medical]
TSGene825
GENETestsCAPN3
Huge Navigator CAPN3 [HugePedia]
snp3D : Map Gene to Disease825
BioCentury BCIQCAPN3
ClinGenCAPN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD825
Chemical/Pharm GKB GenePA26061
Clinical trialCAPN3
Miscellaneous
canSAR (ICR)CAPN3 (select the gene name)
Probes
Litterature
PubMed108 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPN3
EVEXCAPN3
GoPubMedCAPN3
iHOPCAPN3
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 : Tue Aug 9 18:59:52 CEST 2016

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