Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASP6 (caspase 6, apoptosis-related cysteine peptidase)

Identity

Other namesMCH2
HGNC (Hugo) CASP6
LocusID (NCBI) 839
Location 4q25
Location_base_pair Starts at 110609785 and ends at 110624629 bp from pter ( according to hg19-Feb_2009)
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, apoptosis-related cysteine peptidase
GeneCards (Weizmann)CASP6
Ensembl hg19 (Hinxton)ENSG00000138794 [Gene_View]  chr4:110609785-110624629 [Contig_View]  CASP6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138794 [Gene_View]  chr4:110609785-110624629 [Contig_View]  CASP6 [Vega]
ICGC DataPortalENSG00000138794
cBioPortalCASP6
AceView (NCBI)CASP6
Genatlas (Paris)CASP6
WikiGenes839
SOURCE (Princeton)CASP6
Genomic and cartography
GoldenPath hg19 (UCSC)CASP6  -     chr4:110609785-110624629 -  4q25   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CASP6  -     4q25   [Description]    (hg38-Dec_2013)
EnsemblCASP6 - 4q25 [CytoView hg19]  CASP6 - 4q25 [CytoView hg38]
Mapping of homologs : NCBICASP6 [Mapview hg19]  CASP6 [Mapview hg38]
OMIM601532   
Gene and transcription
Genbank (Entrez)BC000305 BC004460 BM837197 DQ894589 EU176306
RefSeq transcript (Entrez)NM_001226 NM_032992
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NG_029187 NT_016354 NW_001838915 NW_004929320
Consensus coding sequences : CCDS (NCBI)CASP6
Cluster EST : UnigeneHs.654616 [ NCBI ]
CGAP (NCI)Hs.654616
Alternative Splicing : Fast-db (Paris)GSHG0023468
Alternative Splicing GalleryENSG00000138794
Gene ExpressionCASP6 [ NCBI-GEO ]     CASP6 [ SEEK ]   CASP6 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55212 (Uniprot)
NextProtP55212  [Medical]
With graphics : InterProP55212
Splice isoforms : SwissVarP55212 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)CASPASE_CYS (PS01122)    CASPASE_HIS (PS01121)    CASPASE_P10 (PS50207)    CASPASE_P20 (PS50208)   
Domains : Interpro (EBI)Caspase-like_dom    Pept_C14_caspase    Pept_C14_ICE_p20    Pept_C14_ICE_p20_AS    Pept_C14_p10    Pept_C14A_p45_core   
Related proteins : CluSTrP55212
Domain families : Pfam (Sanger)Peptidase_C14 (PF00656)   
Domain families : Pfam (NCBI)pfam00656   
Domain families : Smart (EMBL)CASc (SM00115)  
DMDM Disease mutations839
Blocks (Seattle)P55212
PDB (SRS)1MI9    2WDP    3K7E    3NKF    3NR2    3OD5    3P45    3P4U    3QNW    3S70    3S8E    3V6L    3V6M    4EJF    4FXO    4HVA    4IYR    4N5D    4N6G    4N7J    4N7M    4NBK    4NBL    4NBN   
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   
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   
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   
Human Protein AtlasENSG00000138794
Peptide AtlasP55212
HPRD03321
IPIIPI00023876   IPI00217208   IPI00966630   IPI00966602   
Protein Interaction databases
DIP (DOE-UCLA)P55212
IntAct (EBI)P55212
FunCoupENSG00000138794
BioGRIDCASP6
IntegromeDBCASP6
STRING (EMBL)CASP6
Ontologies - Pathways
QuickGOP55212
Ontology : AmiGOcysteine-type endopeptidase activity  cysteine-type endopeptidase activity  protein binding  nucleoplasm  cytosol  cytosol  proteolysis  apoptotic process  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  cysteine-type peptidase activity  epithelial cell differentiation  identical protein binding  
Ontology : EGO-EBIcysteine-type endopeptidase activity  cysteine-type endopeptidase activity  protein binding  nucleoplasm  cytosol  cytosol  proteolysis  apoptotic process  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  cysteine-type peptidase activity  epithelial cell differentiation  identical protein binding  
Pathways : BIOCARTAInduction of apoptosis through DR3 and DR4/5 Death Receptors [Genes]    Role of Mitochondria in Apoptotic Signaling [Genes]    Caspase Cascade in Apoptosis [Genes]    HIV-I Nef: negative effector of Fas and TNF [Genes]    Apoptotic Signaling in Response to DNA Damage [Genes]    FAS signaling pathway ( CD95 ) [Genes]   
Pathways : KEGGApoptosis   
Protein Interaction DatabaseCASP6
DoCM (Curated mutations)CASP6
Wikipedia pathwaysCASP6
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCASP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASP6
dbVarCASP6
ClinVarCASP6
1000_GenomesCASP6 
Exome Variant ServerCASP6
SNP (GeneSNP Utah)CASP6
SNP : HGBaseCASP6
Genetic variants : HAPMAPCASP6
Genomic VariantsCASP6  CASP6 [DGVbeta]
Mutations
ICGC Data PortalENSG00000138794 
Somatic Mutations in Cancer : COSMICCASP6 
CONAN: Copy Number AnalysisCASP6 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:110609785-110624629
Mutations and Diseases : HGMDCASP6
OMIM601532   
MedgenCASP6
NextProtP55212 [Medical]
GENETestsCASP6
Disease Genetic AssociationCASP6
Huge Navigator CASP6 [HugePedia]  CASP6 [HugeCancerGEM]
snp3D : Map Gene to Disease839
DGIdb (Drug Gene Interaction db)CASP6
General knowledge
Homologs : HomoloGeneCASP6
Homology/Alignments : Family Browser (UCSC)CASP6
Phylogenetic Trees/Animal Genes : TreeFamCASP6
Chemical/Protein Interactions : CTD839
Chemical/Pharm GKB GenePA26090
Clinical trialCASP6
Cancer Resource (Charite)ENSG00000138794
Other databases
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
CoreMineCASP6
GoPubMedCASP6
iHOPCASP6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:37:49 CET 2014
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