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CAPN6 (calpain 6)

Identity

Alias_symbol (synonym)CAPNX
CalpM
CANPX
Other aliasDJ914P14.1
HGNC (Hugo) CAPN6
LocusID (NCBI) 827
Atlas_Id 50536
Location Xq23  [Link to chromosome band Xq23]
Location_base_pair Starts at 110488327 and ends at 110513774 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CAPN6 (Xq23) / COL6A2 (21q22.3)CAPN6 (Xq23) / DCX (Xq23)CAPN6 Xq23 / DCX Xq23

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)CAPN6   1483
Cards
Entrez_Gene (NCBI)CAPN6  827  calpain 6
AliasesCANPX; CAPNX; CalpM; DJ914P14.1
GeneCards (Weizmann)CAPN6
Ensembl hg19 (Hinxton)ENSG00000077274 [Gene_View]  chrX:110488327-110513774 [Contig_View]  CAPN6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000077274 [Gene_View]  chrX:110488327-110513774 [Contig_View]  CAPN6 [Vega]
ICGC DataPortalENSG00000077274
TCGA cBioPortalCAPN6
AceView (NCBI)CAPN6
Genatlas (Paris)CAPN6
WikiGenes827
SOURCE (Princeton)CAPN6
Genetics Home Reference (NIH)CAPN6
Genomic and cartography
GoldenPath hg19 (UCSC)CAPN6  -     chrX:110488327-110513774 -  Xq23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CAPN6  -     Xq23   [Description]    (hg38-Dec_2013)
EnsemblCAPN6 - Xq23 [CytoView hg19]  CAPN6 - Xq23 [CytoView hg38]
Mapping of homologs : NCBICAPN6 [Mapview hg19]  CAPN6 [Mapview hg38]
OMIM300146   
Gene and transcription
Genbank (Entrez)AA368247 AF029232 AJ000388 AK300340 AK312701
RefSeq transcript (Entrez)NM_014289
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_015962 NT_011651 NW_004929444
Consensus coding sequences : CCDS (NCBI)CAPN6
Cluster EST : UnigeneHs.496593 [ NCBI ]
CGAP (NCI)Hs.496593
Alternative Splicing GalleryENSG00000077274
Gene ExpressionCAPN6 [ NCBI-GEO ]   CAPN6 [ EBI - ARRAY_EXPRESS ]   CAPN6 [ SEEK ]   CAPN6 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)827
GTEX Portal (Tissue expression)CAPN6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6Q1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6Q1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6Q1
Splice isoforms : SwissVarQ9Y6Q1
PhosPhoSitePlusQ9Y6Q1
Domaine pattern : Prosite (Expaxy)CALPAIN_CAT (PS50203)   
Domains : Interpro (EBI)C2_dom    Calpain_cysteine_protease    Calpain_domain_III    Calpain_III    CAPN6    Peptidase_C2_calpain_cat   
Domain families : Pfam (Sanger)C2 (PF00168)    Calpain_III (PF01067)    Peptidase_C2 (PF00648)   
Domain families : Pfam (NCBI)pfam00168    pfam01067    pfam00648   
Domain families : Smart (EMBL)C2 (SM00239)  calpain_III (SM00720)  CysPc (SM00230)  
Conserved Domain (NCBI)CAPN6
DMDM Disease mutations827
Blocks (Seattle)CAPN6
SuperfamilyQ9Y6Q1
Human Protein AtlasENSG00000077274
Peptide AtlasQ9Y6Q1
HPRD02145
IPIIPI00002547   IPI01013861   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6Q1
IntAct (EBI)Q9Y6Q1
FunCoupENSG00000077274
BioGRIDCAPN6
STRING (EMBL)CAPN6
ZODIACCAPN6
Ontologies - Pathways
QuickGOQ9Y6Q1
Ontology : AmiGOmicrotubule bundle formation  calcium-dependent cysteine-type endopeptidase activity  spindle microtubule  proteolysis  microtubule binding  perinuclear region of cytoplasm  regulation of cytoskeleton organization  
Ontology : EGO-EBImicrotubule bundle formation  calcium-dependent cysteine-type endopeptidase activity  spindle microtubule  proteolysis  microtubule binding  perinuclear region of cytoplasm  regulation of cytoskeleton organization  
NDEx NetworkCAPN6
Atlas of Cancer Signalling NetworkCAPN6
Wikipedia pathwaysCAPN6
Orthology - Evolution
OrthoDB827
GeneTree (enSembl)ENSG00000077274
Phylogenetic Trees/Animal Genes : TreeFamCAPN6
HOVERGENQ9Y6Q1
HOGENOMQ9Y6Q1
Homologs : HomoloGeneCAPN6
Homology/Alignments : Family Browser (UCSC)CAPN6
Gene fusions - Rearrangements
Fusion: TCGACAPN6 Xq23 DCX Xq23 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPN6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPN6
dbVarCAPN6
ClinVarCAPN6
1000_GenomesCAPN6 
Exome Variant ServerCAPN6
ExAC (Exome Aggregation Consortium)CAPN6 (select the gene name)
Genetic variants : HAPMAP827
Genomic Variants (DGV)CAPN6 [DGVbeta]
DECIPHER (Syndromes)X:110488327-110513774  ENSG00000077274
CONAN: Copy Number AnalysisCAPN6 
Mutations
ICGC Data PortalCAPN6 
TCGA Data PortalCAPN6 
Broad Tumor PortalCAPN6
OASIS PortalCAPN6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPN6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAPN6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch CAPN6
DgiDB (Drug Gene Interaction Database)CAPN6
DoCM (Curated mutations)CAPN6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPN6 (select a term)
intoGenCAPN6
Cancer3DCAPN6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300146   
Orphanet
MedgenCAPN6
Genetic Testing Registry CAPN6
NextProtQ9Y6Q1 [Medical]
TSGene827
GENETestsCAPN6
Huge Navigator CAPN6 [HugePedia]
snp3D : Map Gene to Disease827
BioCentury BCIQCAPN6
ClinGenCAPN6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD827
Chemical/Pharm GKB GenePA26063
Clinical trialCAPN6
Miscellaneous
canSAR (ICR)CAPN6 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPN6
EVEXCAPN6
GoPubMedCAPN6
iHOPCAPN6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:58:39 CET 2017

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