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CAPN13 (calpain 13)

Identity

Alias (NCBI)-
HGNC (Hugo) CAPN13
HGNC Alias symbFLJ23523
LocusID (NCBI) 92291
Atlas_Id 61407
Location 2p23.1  [Link to chromosome band 2p23]
Location_base_pair Starts at 30722771 and ends at 30807446 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)
CAPN13 (2p23.1) / CAPN13 (2p23.1)CAPN13 (2p23.1) / FKBP11 (12q13.12)CAPN13 (2p23.1) / GALNT14 (2p23.1)

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)CAPN13   16663
Cards
Entrez_Gene (NCBI)CAPN13    calpain 13
Aliases
GeneCards (Weizmann)CAPN13
Ensembl hg19 (Hinxton)ENSG00000162949 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162949 [Gene_View]  ENSG00000162949 [Sequence]  chr2:30722771-30807446 [Contig_View]  CAPN13 [Vega]
ICGC DataPortalENSG00000162949
TCGA cBioPortalCAPN13
AceView (NCBI)CAPN13
Genatlas (Paris)CAPN13
SOURCE (Princeton)CAPN13
Genetics Home Reference (NIH)CAPN13
Genomic and cartography
GoldenPath hg38 (UCSC)CAPN13  -     chr2:30722771-30807446 -  2p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPN13  -     2p23.1   [Description]    (hg19-Feb_2009)
GoldenPathCAPN13 - 2p23.1 [CytoView hg19]  CAPN13 - 2p23.1 [CytoView hg38]
ImmunoBaseENSG00000162949
Genome Data Viewer NCBICAPN13 [Mapview hg19]  
OMIM610228   
Gene and transcription
Genbank (Entrez)AK026692 AK027176 AK074418 AK290298 AK308037
RefSeq transcript (Entrez)NM_144575
Consensus coding sequences : CCDS (NCBI)CAPN13
Gene ExpressionCAPN13 [ NCBI-GEO ]   CAPN13 [ EBI - ARRAY_EXPRESS ]   CAPN13 [ SEEK ]   CAPN13 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN13 [ Firebrowse - Broad ]
GenevisibleExpression of CAPN13 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92291
GTEX Portal (Tissue expression)CAPN13
Human Protein AtlasENSG00000162949-CAPN13 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6MZZ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6MZZ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6MZZ7
Catalytic activity : Enzyme3.4.22.- [ Enzyme-Expasy ]   3.4.22.-3.4.22.- [ IntEnz-EBI ]   3.4.22.- [ BRENDA ]   3.4.22.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ6MZZ7
Domaine pattern : Prosite (Expaxy)CALPAIN_CAT (PS50203)   
Domains : Interpro (EBI)Calpain_cysteine_protease    Calpain_domain_III    Calpain_III_sf    CANP13    EF-hand-dom_pair    Papain-like_cys_pep_sf    Peptidase_C2_calpain_cat   
Domain families : Pfam (Sanger)Calpain_III (PF01067)    Peptidase_C2 (PF00648)   
Domain families : Pfam (NCBI)pfam01067    pfam00648   
Domain families : Smart (EMBL)CysPc (SM00230)  
Conserved Domain (NCBI)CAPN13
PDB (RSDB)2I7A   
PDB Europe2I7A   
PDB (PDBSum)2I7A   
PDB (IMB)2I7A   
Structural Biology KnowledgeBase2I7A   
SCOP (Structural Classification of Proteins)2I7A   
CATH (Classification of proteins structures)2I7A   
SuperfamilyQ6MZZ7
AlphaFold pdb e-kbQ6MZZ7   
Human Protein Atlas [tissue]ENSG00000162949-CAPN13 [tissue]
HPRD07008
Protein Interaction databases
DIP (DOE-UCLA)Q6MZZ7
IntAct (EBI)Q6MZZ7
BioGRIDCAPN13
STRING (EMBL)CAPN13
ZODIACCAPN13
Ontologies - Pathways
QuickGOQ6MZZ7
Ontology : AmiGOcalcium-dependent cysteine-type endopeptidase activity  calcium ion binding  cytoplasm  proteolysis  negative regulation of apoptotic process  
Ontology : EGO-EBIcalcium-dependent cysteine-type endopeptidase activity  calcium ion binding  cytoplasm  proteolysis  negative regulation of apoptotic process  
NDEx NetworkCAPN13
Atlas of Cancer Signalling NetworkCAPN13
Wikipedia pathwaysCAPN13
Orthology - Evolution
OrthoDB92291
GeneTree (enSembl)ENSG00000162949
Phylogenetic Trees/Animal Genes : TreeFamCAPN13
Homologs : HomoloGeneCAPN13
Homology/Alignments : Family Browser (UCSC)CAPN13
Gene fusions - Rearrangements
Fusion : QuiverCAPN13
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPN13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPN13
dbVarCAPN13
ClinVarCAPN13
MonarchCAPN13
1000_GenomesCAPN13 
Exome Variant ServerCAPN13
GNOMAD BrowserENSG00000162949
Varsome BrowserCAPN13
ACMGCAPN13 variants
VarityQ6MZZ7
Genomic Variants (DGV)CAPN13 [DGVbeta]
DECIPHERCAPN13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAPN13 
Mutations
ICGC Data PortalCAPN13 
TCGA Data PortalCAPN13 
Broad Tumor PortalCAPN13
OASIS PortalCAPN13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPN13  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCAPN13
Mutations and Diseases : HGMDCAPN13
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCAPN13
DgiDB (Drug Gene Interaction Database)CAPN13
DoCM (Curated mutations)CAPN13
CIViC (Clinical Interpretations of Variants in Cancer)CAPN13
Cancer3DCAPN13
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610228   
Orphanet
DisGeNETCAPN13
MedgenCAPN13
Genetic Testing Registry CAPN13
NextProtQ6MZZ7 [Medical]
GENETestsCAPN13
Target ValidationCAPN13
Huge Navigator CAPN13 [HugePedia]
ClinGenCAPN13
Clinical trials, drugs, therapy
MyCancerGenomeCAPN13
Protein Interactions : CTDCAPN13
Pharm GKB GenePA134931170
PharosQ6MZZ7
Clinical trialCAPN13
Miscellaneous
canSAR (ICR)CAPN13
HarmonizomeCAPN13
DataMed IndexCAPN13
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCAPN13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:44:46 CEST 2021

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