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CAPN3 (calpain 3, (p94))

Identity

Other namesCANP3
CANPL3
LGMD2
LGMD2A
nCL-1
p94
HGNC (Hugo) CAPN3
LocusID (NCBI) 825
Location 15q15.1
Location_base_pair Starts at 42651698 and ends at 42704515 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)CAPN3   1480
Cards
Entrez_Gene (NCBI)CAPN3  825  calpain 3, (p94)
GeneCards (Weizmann)CAPN3
Ensembl (Hinxton)ENSG00000092529 [Gene_View]  chr15:42651698-42704515 [Contig_View]  CAPN3 [Vega]
ICGC DataPortalENSG00000092529
cBioPortalCAPN3
AceView (NCBI)CAPN3
Genatlas (Paris)CAPN3
WikiGenes825
SOURCE (Princeton)NM_000070 NM_024344 NM_173087 NM_173088 NM_173089 NM_173090 NM_212465
Genomic and cartography
GoldenPath (UCSC)CAPN3  -  15q15.1   chr15:42651698-42704515 +  15q15.1   [Description]    (hg19-Feb_2009)
EnsemblCAPN3 - 15q15.1 [CytoView]
Mapping of homologs : NCBICAPN3 [Mapview]
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)AC_000147 NC_000015 NC_018926 NG_008660 NT_010194 NW_001838214 NW_004929398
Consensus coding sequences : CCDS (NCBI)CAPN3
Cluster EST : UnigeneHs.143261 [ NCBI ]
CGAP (NCI)Hs.143261
Alternative Splicing : Fast-db (Paris)GSHG0009808
Alternative Splicing GalleryENSG00000092529
Gene ExpressionCAPN3 [ NCBI-GEO ]     CAPN3 [ SEEK ]   CAPN3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20807 (Uniprot)
NextProtP20807  [Medical]
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 ]   
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 [organisation]   Calpain_domain_III [organisation]   Calpain_III [organisation]   EF-hand-dom_pair [organisation]   EF_Hand_1_Ca_BS [organisation]   EF_hand_dom [organisation]   Pept_cys_AS [organisation]   Peptidase_C2_calpain_cat [organisation]  
Related proteins : CluSTrP20807
Domain families : Pfam (Sanger)Calpain_III (PF01067)    EF-hand_6 (PF13405)    Peptidase_C2 (PF00648)   
Domain families : Pfam (NCBI)pfam01067    pfam13405    pfam00648   
Domain families : Smart (EMBL)calpain_III (SM00720)  CysPc (SM00230)  EFh (SM00054)  
DMDM Disease mutations825
Blocks (Seattle)P20807
PDB (SRS)1Y9V   
PDB (PDBSum)1Y9V   
PDB (IMB)1Y9V   
PDB (RSDB)1Y9V   
Human Protein AtlasENSG00000092529 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidP20807
Interologous Interaction database P20807
IntegromeDBCAPN3
STRING (EMBL)CAPN3
Ontologies - Pathways
Ontology : AmiGOautolysis  catalytic activity  calcium-dependent cysteine-type endopeptidase 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  
Ontology : EGO-EBIautolysis  catalytic activity  calcium-dependent cysteine-type endopeptidase 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  
Protein Interaction DatabaseCAPN3
Wikipedia pathwaysCAPN3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CAPN3
snp3D : Map Gene to Disease825
SNP (GeneSNP Utah)CAPN3
SNP : HGBaseCAPN3
Genetic variants : HAPMAPCAPN3
Exome VariantCAPN3
1000_GenomesCAPN3 
ICGC programENSG00000092529 
Somatic Mutations in Cancer : COSMICCAPN3 
CONAN: Copy Number AnalysisCAPN3 
Mutations and Diseases : HGMDCAPN3
Genomic VariantsCAPN3  CAPN3 [DGVbeta]
dbVarCAPN3
ClinVarCAPN3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM114240    253600   
MedgenCAPN3
GENETestsCAPN3
Disease Genetic AssociationCAPN3
Huge Navigator CAPN3 [HugePedia]  CAPN3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCAPN3
Homology/Alignments : Family Browser (UCSC)CAPN3
Phylogenetic Trees/Animal Genes : TreeFamCAPN3
Chemical/Protein Interactions : CTD825
Chemical/Pharm GKB GenePA26061
Clinical trialCAPN3
Cancer Resource (Charite)ENSG00000092529
Other databases
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
CoreMineCAPN3
iHOPCAPN3
OncoSearchCAPN3
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 : Wed Jul 30 13:46:12 CEST 2014

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