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CAPN6 (calpain 6)

Identity

Alias (NCBI)CANPX
CAPNX
CalpM
DJ914P14.1
HGNC (Hugo) CAPN6
HGNC Alias symbCAPNX
CalpM
CANPX
LocusID (NCBI) 827
Atlas_Id 50536
Location Xq23  [Link to chromosome band Xq23]
Location_base_pair Starts at 111245099 and ends at 111270483 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)
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    calpain 6
AliasesCANPX; CAPNX; CalpM; DJ914P14.1
GeneCards (Weizmann)CAPN6
Ensembl hg19 (Hinxton)ENSG00000077274 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000077274 [Gene_View]  ENSG00000077274 [Sequence]  chrX:111245099-111270483 [Contig_View]  CAPN6 [Vega]
ICGC DataPortalENSG00000077274
TCGA cBioPortalCAPN6
AceView (NCBI)CAPN6
Genatlas (Paris)CAPN6
SOURCE (Princeton)CAPN6
Genetics Home Reference (NIH)CAPN6
Genomic and cartography
GoldenPath hg38 (UCSC)CAPN6  -     chrX:111245099-111270483 -  Xq23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPN6  -     Xq23   [Description]    (hg19-Feb_2009)
GoldenPathCAPN6 - Xq23 [CytoView hg19]  CAPN6 - Xq23 [CytoView hg38]
ImmunoBaseENSG00000077274
genome Data Viewer NCBICAPN6 [Mapview hg19]  
OMIM300146   
Gene and transcription
Genbank (Entrez)AA368247 AF029232 AJ000388 AK300340 AK312701
RefSeq transcript (Entrez)NM_014289
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAPN6
Alternative Splicing GalleryENSG00000077274
Gene ExpressionCAPN6 [ NCBI-GEO ]   CAPN6 [ EBI - ARRAY_EXPRESS ]   CAPN6 [ SEEK ]   CAPN6 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN6 [ Firebrowse - Broad ]
GenevisibleExpression of CAPN6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)827
GTEX Portal (Tissue expression)CAPN6
Human Protein AtlasENSG00000077274-CAPN6 [pathology]   [cell]   [tissue]
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)C2 (PS50004)    CALPAIN_CAT (PS50203)   
Domains : Interpro (EBI)C2_Calpain    C2_dom    C2_domain_sf    C2_III    Calpain_cysteine_protease    Calpain_domain_III    Calpain_III    Calpain_III_sf    Papain-like_cys_pep_sf    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
Blocks (Seattle)CAPN6
SuperfamilyQ9Y6Q1
Human Protein Atlas [tissue]ENSG00000077274-CAPN6 [tissue]
Peptide AtlasQ9Y6Q1
HPRD02145
IPIIPI00002547   IPI01013861   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6Q1
IntAct (EBI)Q9Y6Q1
BioGRIDCAPN6
STRING (EMBL)CAPN6
ZODIACCAPN6
Ontologies - Pathways
QuickGOQ9Y6Q1
Ontology : AmiGOmicrotubule bundle formation  calcium-dependent cysteine-type endopeptidase activity  cytoplasm  spindle microtubule  proteolysis  proteolysis  microtubule binding  perinuclear region of cytoplasm  regulation of cytoskeleton organization  
Ontology : EGO-EBImicrotubule bundle formation  calcium-dependent cysteine-type endopeptidase activity  cytoplasm  spindle microtubule  proteolysis  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
HOGENOMQ9Y6Q1
Homologs : HomoloGeneCAPN6
Homology/Alignments : Family Browser (UCSC)CAPN6
Gene fusions - Rearrangements
Fusion PortalCAPN6 Xq23 DCX Xq23 BRCA
Fusion : QuiverCAPN6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPN6 [hg38]
dbVarCAPN6
ClinVarCAPN6
MonarchCAPN6
1000_GenomesCAPN6 
Exome Variant ServerCAPN6
GNOMAD BrowserENSG00000077274
Varsome BrowserCAPN6
Genomic Variants (DGV)CAPN6 [DGVbeta]
DECIPHERCAPN6 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DCAPN6
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300146   
Orphanet
DisGeNETCAPN6
MedgenCAPN6
Genetic Testing Registry CAPN6
NextProtQ9Y6Q1 [Medical]
GENETestsCAPN6
Target ValidationCAPN6
Huge Navigator CAPN6 [HugePedia]
ClinGenCAPN6
Clinical trials, drugs, therapy
MyCancerGenomeCAPN6
Protein Interactions : CTD
Pharm GKB GenePA26063
PharosQ9Y6Q1
Clinical trialCAPN6
Miscellaneous
canSAR (ICR)CAPN6 (select the gene name)
HarmonizomeCAPN6
DataMed IndexCAPN6
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCAPN6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 1 18:08:17 CET 2021

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