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CAPN5 (calpain 5)

Identity

Alias_namesVRNI
vitreoretinopathy
Alias_symbol (synonym)nCL-3
HTRA3
ADNIV
Other alias
HGNC (Hugo) CAPN5
LocusID (NCBI) 726
Atlas_Id 50655
Location 11q13.5  [Link to chromosome band 11q13]
Location_base_pair Starts at 77066945 and ends at 77126152 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)
CAPN5 (11q13.5) / CYP2S1 (19q13.2)CAPN5 (11q13.5) / NDUFV1 (11q13.2)CAPN5 (11q13.5) / PELI3 (11q13.2)
CEACAM6 (19q13.2) / CAPN5 (11q13.5)CAPN5 11q13.5 / PELI3 11q13.2

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)CAPN5   1482
Cards
Entrez_Gene (NCBI)CAPN5  726  calpain 5
AliasesADNIV; HTRA3; VRNI; nCL-3
GeneCards (Weizmann)CAPN5
Ensembl hg19 (Hinxton)ENSG00000149260 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149260 [Gene_View]  chr11:77066945-77126152 [Contig_View]  CAPN5 [Vega]
ICGC DataPortalENSG00000149260
TCGA cBioPortalCAPN5
AceView (NCBI)CAPN5
Genatlas (Paris)CAPN5
WikiGenes726
SOURCE (Princeton)CAPN5
Genetics Home Reference (NIH)CAPN5
Genomic and cartography
GoldenPath hg38 (UCSC)CAPN5  -     chr11:77066945-77126152 +  11q13.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPN5  -     11q13.5   [Description]    (hg19-Feb_2009)
EnsemblCAPN5 - 11q13.5 [CytoView hg19]  CAPN5 - 11q13.5 [CytoView hg38]
Mapping of homologs : NCBICAPN5 [Mapview hg19]  CAPN5 [Mapview hg38]
OMIM193235   602537   
Gene and transcription
Genbank (Entrez)AB209087 AK092880 AK094150 AK128124 AK129588
RefSeq transcript (Entrez)NM_004055
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAPN5
Cluster EST : UnigeneHs.248153 [ NCBI ]
CGAP (NCI)Hs.248153
Alternative Splicing GalleryENSG00000149260
Gene ExpressionCAPN5 [ NCBI-GEO ]   CAPN5 [ EBI - ARRAY_EXPRESS ]   CAPN5 [ SEEK ]   CAPN5 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)726
GTEX Portal (Tissue expression)CAPN5
Human Protein AtlasENSG00000149260-CAPN5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15484   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15484  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15484
Splice isoforms : SwissVarO15484
Catalytic activity : Enzyme3.4.22.- [ Enzyme-Expasy ]   3.4.22.-3.4.22.- [ IntEnz-EBI ]   3.4.22.- [ BRENDA ]   3.4.22.- [ KEGG ]   
PhosPhoSitePlusO15484
Domaine pattern : Prosite (Expaxy)CALPAIN_CAT (PS50203)    THIOL_PROTEASE_CYS (PS00139)   
Domains : Interpro (EBI)C2_Calpain    C2_dom    C2_III    Calpain_cysteine_protease    Calpain_domain_III    Calpain_III    Pept_cys_AS    Peptidase_C2_calpain_cat   
Domain families : Pfam (Sanger)Calpain_III (PF01067)    Peptidase_C2 (PF00648)   
Domain families : Pfam (NCBI)pfam01067    pfam00648   
Domain families : Smart (EMBL)C2 (SM00239)  calpain_III (SM00720)  CysPc (SM00230)  
Conserved Domain (NCBI)CAPN5
DMDM Disease mutations726
Blocks (Seattle)CAPN5
SuperfamilyO15484
Human Protein Atlas [tissue]ENSG00000149260-CAPN5 [tissue]
Peptide AtlasO15484
HPRD03963
IPIIPI00742984   IPI00443028   IPI00643994   IPI00980078   IPI00902710   IPI00979551   
Protein Interaction databases
DIP (DOE-UCLA)O15484
IntAct (EBI)O15484
FunCoupENSG00000149260
BioGRIDCAPN5
STRING (EMBL)CAPN5
ZODIACCAPN5
Ontologies - Pathways
QuickGOO15484
Ontology : AmiGOcalcium-dependent cysteine-type endopeptidase activity  cytoplasm  focal adhesion  proteolysis  signal transduction  cell surface  extracellular exosome  
Ontology : EGO-EBIcalcium-dependent cysteine-type endopeptidase activity  cytoplasm  focal adhesion  proteolysis  signal transduction  cell surface  extracellular exosome  
NDEx NetworkCAPN5
Atlas of Cancer Signalling NetworkCAPN5
Wikipedia pathwaysCAPN5
Orthology - Evolution
OrthoDB726
GeneTree (enSembl)ENSG00000149260
Phylogenetic Trees/Animal Genes : TreeFamCAPN5
HOVERGENO15484
HOGENOMO15484
Homologs : HomoloGeneCAPN5
Homology/Alignments : Family Browser (UCSC)CAPN5
Gene fusions - Rearrangements
Fusion : MitelmanCAPN5/PELI3 [11q13.5/11q13.2]  
Fusion: TCGA_MDACCCAPN5 11q13.5 PELI3 11q13.2 LUAD
Tumor Fusion PortalCAPN5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPN5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPN5
dbVarCAPN5
ClinVarCAPN5
1000_GenomesCAPN5 
Exome Variant ServerCAPN5
ExAC (Exome Aggregation Consortium)ENSG00000149260
GNOMAD BrowserENSG00000149260
Genetic variants : HAPMAP726
Genomic Variants (DGV)CAPN5 [DGVbeta]
DECIPHERCAPN5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAPN5 
Mutations
ICGC Data PortalCAPN5 
TCGA Data PortalCAPN5 
Broad Tumor PortalCAPN5
OASIS PortalCAPN5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPN5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAPN5
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CAPN5
DgiDB (Drug Gene Interaction Database)CAPN5
DoCM (Curated mutations)CAPN5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPN5 (select a term)
intoGenCAPN5
Cancer3DCAPN5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM193235    602537   
Orphanet21908   
DisGeNETCAPN5
MedgenCAPN5
Genetic Testing Registry CAPN5
NextProtO15484 [Medical]
TSGene726
GENETestsCAPN5
Target ValidationCAPN5
Huge Navigator CAPN5 [HugePedia]
snp3D : Map Gene to Disease726
BioCentury BCIQCAPN5
ClinGenCAPN5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD726
Chemical/Pharm GKB GenePA26062
Clinical trialCAPN5
Miscellaneous
canSAR (ICR)CAPN5 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPN5
EVEXCAPN5
GoPubMedCAPN5
iHOPCAPN5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:05:56 CET 2017

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