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CAPN8 (calpain 8)

Identity

Alias_namescalpain 8 (nCL-2)
Alias_symbol (synonym)nCL-2
Other alias
HGNC (Hugo) CAPN8
LocusID (NCBI) 388743
Atlas_Id 61411
Location 1q41  [Link to chromosome band 1q41]
Location_base_pair Starts at 223541609 and ends at 223665734 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CAPN8 (1q41) / CAPN8 (1q41)

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)CAPN8   1485
Cards
Entrez_Gene (NCBI)CAPN8  388743  calpain 8
AliasesnCL-2
GeneCards (Weizmann)CAPN8
Ensembl hg19 (Hinxton)ENSG00000203697 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203697 [Gene_View]  chr1:223541609-223665734 [Contig_View]  CAPN8 [Vega]
ICGC DataPortalENSG00000203697
TCGA cBioPortalCAPN8
AceView (NCBI)CAPN8
Genatlas (Paris)CAPN8
WikiGenes388743
SOURCE (Princeton)CAPN8
Genetics Home Reference (NIH)CAPN8
Genomic and cartography
GoldenPath hg38 (UCSC)CAPN8  -     chr1:223541609-223665734 -  1q41   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPN8  -     1q41   [Description]    (hg19-Feb_2009)
EnsemblCAPN8 - 1q41 [CytoView hg19]  CAPN8 - 1q41 [CytoView hg38]
Mapping of homologs : NCBICAPN8 [Mapview hg19]  CAPN8 [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC157893 BG187068 BM739137 BM843240 DA874912
RefSeq transcript (Entrez)NM_001143962
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAPN8
Cluster EST : UnigeneHs.291487 [ NCBI ]
CGAP (NCI)Hs.291487
Alternative Splicing GalleryENSG00000203697
Gene ExpressionCAPN8 [ NCBI-GEO ]   CAPN8 [ EBI - ARRAY_EXPRESS ]   CAPN8 [ SEEK ]   CAPN8 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388743
GTEX Portal (Tissue expression)CAPN8
Protein : pattern, domain, 3D structure
UniProt/SwissProtA6NHC0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA6NHC0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA6NHC0
Splice isoforms : SwissVarA6NHC0
Catalytic activity : Enzyme3.4.22.53 [ Enzyme-Expasy ]   3.4.22.533.4.22.53 [ IntEnz-EBI ]   3.4.22.53 [ BRENDA ]   3.4.22.53 [ KEGG ]   
PhosPhoSitePlusA6NHC0
Domaine pattern : Prosite (Expaxy)CALPAIN_CAT (PS50203)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    THIOL_PROTEASE_CYS (PS00139)   
Domains : Interpro (EBI)C2_III    Calpain_cysteine_protease    Calpain_domain_III    Calpain_III    CAPN8    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)    Peptidase_C2 (PF00648)   
Domain families : Pfam (NCBI)pfam01067    pfam00648   
Domain families : Smart (EMBL)calpain_III (SM00720)  CysPc (SM00230)  
Conserved Domain (NCBI)CAPN8
DMDM Disease mutations388743
Blocks (Seattle)CAPN8
SuperfamilyA6NHC0
Human Protein AtlasENSG00000203697
Peptide AtlasA6NHC0
IPIIPI00874238   IPI00942548   IPI00888895   IPI00657789   IPI00980346   IPI01014550   IPI00978982   
Protein Interaction databases
DIP (DOE-UCLA)A6NHC0
IntAct (EBI)A6NHC0
FunCoupENSG00000203697
BioGRIDCAPN8
STRING (EMBL)CAPN8
ZODIACCAPN8
Ontologies - Pathways
QuickGOA6NHC0
Ontology : AmiGOcalcium-dependent cysteine-type endopeptidase activity  calcium ion binding  cytoplasm  Golgi apparatus  proteolysis  digestion  
Ontology : EGO-EBIcalcium-dependent cysteine-type endopeptidase activity  calcium ion binding  cytoplasm  Golgi apparatus  proteolysis  digestion  
NDEx NetworkCAPN8
Atlas of Cancer Signalling NetworkCAPN8
Wikipedia pathwaysCAPN8
Orthology - Evolution
OrthoDB388743
GeneTree (enSembl)ENSG00000203697
Phylogenetic Trees/Animal Genes : TreeFamCAPN8
HOVERGENA6NHC0
HOGENOMA6NHC0
Homologs : HomoloGeneCAPN8
Homology/Alignments : Family Browser (UCSC)CAPN8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPN8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPN8
dbVarCAPN8
ClinVarCAPN8
1000_GenomesCAPN8 
Exome Variant ServerCAPN8
ExAC (Exome Aggregation Consortium)CAPN8 (select the gene name)
Genetic variants : HAPMAP388743
Genomic Variants (DGV)CAPN8 [DGVbeta]
DECIPHERCAPN8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAPN8 
Mutations
ICGC Data PortalCAPN8 
TCGA Data PortalCAPN8 
Broad Tumor PortalCAPN8
OASIS PortalCAPN8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPN8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAPN8
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 CAPN8
DgiDB (Drug Gene Interaction Database)CAPN8
DoCM (Curated mutations)CAPN8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPN8 (select a term)
intoGenCAPN8
Cancer3DCAPN8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCAPN8
Genetic Testing Registry CAPN8
NextProtA6NHC0 [Medical]
TSGene388743
GENETestsCAPN8
Target ValidationCAPN8
Huge Navigator CAPN8 [HugePedia]
snp3D : Map Gene to Disease388743
BioCentury BCIQCAPN8
ClinGenCAPN8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD388743
Chemical/Pharm GKB GenePA26065
Clinical trialCAPN8
Miscellaneous
canSAR (ICR)CAPN8 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPN8
EVEXCAPN8
GoPubMedCAPN8
iHOPCAPN8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:03:51 CEST 2017

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