Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASP6 (caspase 6)

Identity

Alias_namescaspase 6, apoptosis-related cysteine protease
caspase 6, apoptosis-related cysteine peptidase
Alias_symbol (synonym)MCH2
Other alias
HGNC (Hugo) CASP6
LocusID (NCBI) 839
Atlas_Id 923
Location 4q25  [Link to chromosome band 4q25]
Location_base_pair Starts at 109688629 and ends at 109703473 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)
CASP6 (4q25) / ACADSB (10q26.13)PLA2G12A (4q25) / CASP6 (4q25)

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)CASP6   1507
Cards
Entrez_Gene (NCBI)CASP6  839  caspase 6
AliasesMCH2
GeneCards (Weizmann)CASP6
Ensembl hg19 (Hinxton)ENSG00000138794 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138794 [Gene_View]  ENSG00000138794 [Sequence]  chr4:109688629-109703473 [Contig_View]  CASP6 [Vega]
ICGC DataPortalENSG00000138794
TCGA cBioPortalCASP6
AceView (NCBI)CASP6
Genatlas (Paris)CASP6
WikiGenes839
SOURCE (Princeton)CASP6
Genetics Home Reference (NIH)CASP6
Genomic and cartography
GoldenPath hg38 (UCSC)CASP6  -     chr4:109688629-109703473 -  4q25   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASP6  -     4q25   [Description]    (hg19-Feb_2009)
GoldenPathCASP6 - 4q25 [CytoView hg19]  CASP6 - 4q25 [CytoView hg38]
ImmunoBaseENSG00000138794
Mapping of homologs : NCBICASP6 [Mapview hg19]  CASP6 [Mapview hg38]
OMIM601532   
Gene and transcription
Genbank (Entrez)BC000305 BC004460 BM837197 BX380795 U20536
RefSeq transcript (Entrez)NM_001226 NM_032992
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASP6
Alternative Splicing GalleryENSG00000138794
Gene ExpressionCASP6 [ NCBI-GEO ]   CASP6 [ EBI - ARRAY_EXPRESS ]   CASP6 [ SEEK ]   CASP6 [ MEM ]
Gene Expression Viewer (FireBrowse)CASP6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)839
GTEX Portal (Tissue expression)CASP6
Human Protein AtlasENSG00000138794-CASP6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55212   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55212  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55212
Splice isoforms : SwissVarP55212
Catalytic activity : Enzyme3.4.22.59 [ Enzyme-Expasy ]   3.4.22.593.4.22.59 [ IntEnz-EBI ]   3.4.22.59 [ BRENDA ]   3.4.22.59 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP55212
Domaine pattern : Prosite (Expaxy)CASPASE_CYS (PS01122)    CASPASE_HIS (PS01121)    CASPASE_P10 (PS50207)    CASPASE_P20 (PS50208)   
Domains : Interpro (EBI)Caspase-like_dom_sf    Caspase_6    Caspase_cys_AS    Caspase_his_AS    Pept_C14    Pept_C14_p10    Pept_C14_p20    Pept_C14A   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)CASc (SM00115)  
Conserved Domain (NCBI)CASP6
DMDM Disease mutations839
Blocks (Seattle)CASP6
PDB (RSDB)1MI9    2WDP    3K7E    3NKF    3NR2    3OD5    3P45    3P4U    3QNW    3S70    3S8E    3V6L    3V6M    4EJF    4FXO    4HVA    4IYR    4N5D    4N6G    4N7J    4N7M    4NBK    4NBL    4NBN    6DEU    6DEV   
PDB Europe1MI9    2WDP    3K7E    3NKF    3NR2    3OD5    3P45    3P4U    3QNW    3S70    3S8E    3V6L    3V6M    4EJF    4FXO    4HVA    4IYR    4N5D    4N6G    4N7J    4N7M    4NBK    4NBL    4NBN    6DEU    6DEV   
PDB (PDBSum)1MI9    2WDP    3K7E    3NKF    3NR2    3OD5    3P45    3P4U    3QNW    3S70    3S8E    3V6L    3V6M    4EJF    4FXO    4HVA    4IYR    4N5D    4N6G    4N7J    4N7M    4NBK    4NBL    4NBN    6DEU    6DEV   
PDB (IMB)1MI9    2WDP    3K7E    3NKF    3NR2    3OD5    3P45    3P4U    3QNW    3S70    3S8E    3V6L    3V6M    4EJF    4FXO    4HVA    4IYR    4N5D    4N6G    4N7J    4N7M    4NBK    4NBL    4NBN    6DEU    6DEV   
Structural Biology KnowledgeBase1MI9    2WDP    3K7E    3NKF    3NR2    3OD5    3P45    3P4U    3QNW    3S70    3S8E    3V6L    3V6M    4EJF    4FXO    4HVA    4IYR    4N5D    4N6G    4N7J    4N7M    4NBK    4NBL    4NBN    6DEU    6DEV   
SCOP (Structural Classification of Proteins)1MI9    2WDP    3K7E    3NKF    3NR2    3OD5    3P45    3P4U    3QNW    3S70    3S8E    3V6L    3V6M    4EJF    4FXO    4HVA    4IYR    4N5D    4N6G    4N7J    4N7M    4NBK    4NBL    4NBN    6DEU    6DEV   
CATH (Classification of proteins structures)1MI9    2WDP    3K7E    3NKF    3NR2    3OD5    3P45    3P4U    3QNW    3S70    3S8E    3V6L    3V6M    4EJF    4FXO    4HVA    4IYR    4N5D    4N6G    4N7J    4N7M    4NBK    4NBL    4NBN    6DEU    6DEV   
SuperfamilyP55212
Human Protein Atlas [tissue]ENSG00000138794-CASP6 [tissue]
Peptide AtlasP55212
HPRD03321
IPIIPI00023876   IPI00217208   IPI00966630   IPI00966602   
Protein Interaction databases
DIP (DOE-UCLA)P55212
IntAct (EBI)P55212
FunCoupENSG00000138794
BioGRIDCASP6
STRING (EMBL)CASP6
ZODIACCASP6
Ontologies - Pathways
QuickGOP55212
Ontology : AmiGOprotein binding  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  proteolysis  apoptotic process  cysteine-type peptidase activity  epithelial cell differentiation  identical protein binding  regulation of apoptotic process  cellular response to staurosporine  cysteine-type endopeptidase activity involved in apoptotic process  execution phase of apoptosis  cysteine-type endopeptidase activity involved in execution phase of apoptosis  
Ontology : EGO-EBIprotein binding  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  proteolysis  apoptotic process  cysteine-type peptidase activity  epithelial cell differentiation  identical protein binding  regulation of apoptotic process  cellular response to staurosporine  cysteine-type endopeptidase activity involved in apoptotic process  execution phase of apoptosis  cysteine-type endopeptidase activity involved in execution phase of apoptosis  
Pathways : KEGGApoptosis   
NDEx NetworkCASP6
Atlas of Cancer Signalling NetworkCASP6
Wikipedia pathwaysCASP6
Orthology - Evolution
OrthoDB839
GeneTree (enSembl)ENSG00000138794
Phylogenetic Trees/Animal Genes : TreeFamCASP6
HOGENOMP55212
Homologs : HomoloGeneCASP6
Homology/Alignments : Family Browser (UCSC)CASP6
Gene fusions - Rearrangements
Fusion : QuiverCASP6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASP6
dbVarCASP6
ClinVarCASP6
1000_GenomesCASP6 
Exome Variant ServerCASP6
ExAC (Exome Aggregation Consortium)ENSG00000138794
GNOMAD BrowserENSG00000138794
Varsome BrowserCASP6
Genetic variants : HAPMAP839
Genomic Variants (DGV)CASP6 [DGVbeta]
DECIPHERCASP6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASP6 
Mutations
ICGC Data PortalCASP6 
TCGA Data PortalCASP6 
Broad Tumor PortalCASP6
OASIS PortalCASP6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASP6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCASP6
Mutations and Diseases : HGMDCASP6
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 CASP6
DgiDB (Drug Gene Interaction Database)CASP6
DoCM (Curated mutations)CASP6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASP6 (select a term)
intoGenCASP6
Cancer3DCASP6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601532   
Orphanet
DisGeNETCASP6
MedgenCASP6
Genetic Testing Registry CASP6
NextProtP55212 [Medical]
TSGene839
GENETestsCASP6
Target ValidationCASP6
Huge Navigator CASP6 [HugePedia]
snp3D : Map Gene to Disease839
BioCentury BCIQCASP6
ClinGenCASP6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD839
Chemical/Pharm GKB GenePA26090
Clinical trialCASP6
Miscellaneous
canSAR (ICR)CASP6 (select the gene name)
HarmonizomeCASP6
DataMed IndexCASP6
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASP6
EVEXCASP6
GoPubMedCASP6
iHOPCASP6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 10 12:09:08 CEST 2020
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