Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASP2 (caspase 2)

Identity

Alias_namesregulatory subunit 57
NEDD2
Alias_symbol (synonym)ICH1
PPP1R57
MGC2181
Other aliasCASP-2
NEDD-2
HGNC (Hugo) CASP2
LocusID (NCBI) 835
Atlas_Id 919
Location 7q34  [Link to chromosome band 7q34]
Location_base_pair Starts at 143288215 and ends at 143307696 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)
CASP2 (7q34) / ADAR (1q21.3)CASP2 (7q34) / CASP2 (7q34)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  T-cell/histiocyte rich large B-cell lymphoma

External links

Nomenclature
HGNC (Hugo)CASP2   1503
Cards
Entrez_Gene (NCBI)CASP2  835  caspase 2
AliasesCASP-2; ICH1; NEDD-2; NEDD2; 
PPP1R57
GeneCards (Weizmann)CASP2
Ensembl hg19 (Hinxton)ENSG00000106144 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106144 [Gene_View]  chr7:143288215-143307696 [Contig_View]  CASP2 [Vega]
ICGC DataPortalENSG00000106144
TCGA cBioPortalCASP2
AceView (NCBI)CASP2
Genatlas (Paris)CASP2
WikiGenes835
SOURCE (Princeton)CASP2
Genetics Home Reference (NIH)CASP2
Genomic and cartography
GoldenPath hg38 (UCSC)CASP2  -     chr7:143288215-143307696 +  7q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASP2  -     7q34   [Description]    (hg19-Feb_2009)
EnsemblCASP2 - 7q34 [CytoView hg19]  CASP2 - 7q34 [CytoView hg38]
Mapping of homologs : NCBICASP2 [Mapview hg19]  CASP2 [Mapview hg38]
OMIM600639   
Gene and transcription
Genbank (Entrez)AB209640 AF314174 AF314175 AK096245 AK291274
RefSeq transcript (Entrez)NM_001224 NM_032982 NM_032983
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASP2
Cluster EST : UnigeneHs.368982 [ NCBI ]
CGAP (NCI)Hs.368982
Alternative Splicing GalleryENSG00000106144
Gene ExpressionCASP2 [ NCBI-GEO ]   CASP2 [ EBI - ARRAY_EXPRESS ]   CASP2 [ SEEK ]   CASP2 [ MEM ]
Gene Expression Viewer (FireBrowse)CASP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)835
GTEX Portal (Tissue expression)CASP2
Human Protein AtlasENSG00000106144-CASP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42575   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP42575  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP42575
Splice isoforms : SwissVarP42575
Catalytic activity : Enzyme3.4.22.55 [ Enzyme-Expasy ]   3.4.22.553.4.22.55 [ IntEnz-EBI ]   3.4.22.55 [ BRENDA ]   3.4.22.55 [ KEGG ]   
PhosPhoSitePlusP42575
Domaine pattern : Prosite (Expaxy)CARD (PS50209)    CASPASE_CYS (PS01122)    CASPASE_HIS (PS01121)    CASPASE_P10 (PS50207)    CASPASE_P20 (PS50208)   
Domains : Interpro (EBI)CARD    Caspase-like_dom    Caspase_cys_AS    Caspase_his_AS    DEATH-like_dom    Pept_C14_p10    Pept_C14_p20    Pept_C14A    Pept_C14A_CASP1-typ   
Domain families : Pfam (Sanger)CARD (PF00619)   
Domain families : Pfam (NCBI)pfam00619   
Domain families : Smart (EMBL)CARD (SM00114)  CASc (SM00115)  
Conserved Domain (NCBI)CASP2
DMDM Disease mutations835
Blocks (Seattle)CASP2
PDB (SRS)1PYO    2P2C    3R5J    3R6G    3R6L    3R7B    3R7N    3R7S    3RJM   
PDB (PDBSum)1PYO    2P2C    3R5J    3R6G    3R6L    3R7B    3R7N    3R7S    3RJM   
PDB (IMB)1PYO    2P2C    3R5J    3R6G    3R6L    3R7B    3R7N    3R7S    3RJM   
PDB (RSDB)1PYO    2P2C    3R5J    3R6G    3R6L    3R7B    3R7N    3R7S    3RJM   
Structural Biology KnowledgeBase1PYO    2P2C    3R5J    3R6G    3R6L    3R7B    3R7N    3R7S    3RJM   
SCOP (Structural Classification of Proteins)1PYO    2P2C    3R5J    3R6G    3R6L    3R7B    3R7N    3R7S    3RJM   
CATH (Classification of proteins structures)1PYO    2P2C    3R5J    3R6G    3R6L    3R7B    3R7N    3R7S    3RJM   
SuperfamilyP42575
Human Protein Atlas [tissue]ENSG00000106144-CASP2 [tissue]
Peptide AtlasP42575
HPRD02800
IPIIPI00291570   IPI00216410   IPI00953479   IPI00917270   IPI00018345   
Protein Interaction databases
DIP (DOE-UCLA)P42575
IntAct (EBI)P42575
FunCoupENSG00000106144
BioGRIDCASP2
STRING (EMBL)CASP2
ZODIACCASP2
Ontologies - Pathways
QuickGOP42575
Ontology : AmiGOluteolysis  neural retina development  cysteine-type endopeptidase activity  cysteine-type endopeptidase activity  protein binding  nucleus  cytoplasm  mitochondrion  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  brain development  aging  intrinsic apoptotic signaling pathway in response to DNA damage  membrane  protein processing  enzyme binding  protein domain specific binding  ectopic germ cell programmed cell death  identical protein binding  regulation of apoptotic process  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of neuron apoptotic process  cellular response to mechanical stimulus  apoptotic signaling pathway  extrinsic apoptotic signaling pathway in absence of ligand  execution phase of apoptosis  cysteine-type endopeptidase activity involved in execution phase of apoptosis  positive regulation of apoptotic signaling pathway  
Ontology : EGO-EBIluteolysis  neural retina development  cysteine-type endopeptidase activity  cysteine-type endopeptidase activity  protein binding  nucleus  cytoplasm  mitochondrion  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  brain development  aging  intrinsic apoptotic signaling pathway in response to DNA damage  membrane  protein processing  enzyme binding  protein domain specific binding  ectopic germ cell programmed cell death  identical protein binding  regulation of apoptotic process  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of neuron apoptotic process  cellular response to mechanical stimulus  apoptotic signaling pathway  extrinsic apoptotic signaling pathway in absence of ligand  execution phase of apoptosis  cysteine-type endopeptidase activity involved in execution phase of apoptosis  positive regulation of apoptotic signaling pathway  
Pathways : BIOCARTATNF/Stress Related Signaling [Genes]    TNFR1 Signaling Pathway [Genes]    Caspase Cascade in Apoptosis [Genes]    HIV-I Nef: negative effector of Fas and TNF [Genes]   
Pathways : KEGGMAPK signaling pathway   
NDEx NetworkCASP2
Atlas of Cancer Signalling NetworkCASP2
Wikipedia pathwaysCASP2
Orthology - Evolution
OrthoDB835
GeneTree (enSembl)ENSG00000106144
Phylogenetic Trees/Animal Genes : TreeFamCASP2
HOVERGENP42575
HOGENOMP42575
Homologs : HomoloGeneCASP2
Homology/Alignments : Family Browser (UCSC)CASP2
Gene fusions - Rearrangements
Fusion : QuiverCASP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASP2
dbVarCASP2
ClinVarCASP2
1000_GenomesCASP2 
Exome Variant ServerCASP2
ExAC (Exome Aggregation Consortium)ENSG00000106144
GNOMAD BrowserENSG00000106144
Genetic variants : HAPMAP835
Genomic Variants (DGV)CASP2 [DGVbeta]
DECIPHERCASP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASP2 
Mutations
ICGC Data PortalCASP2 
TCGA Data PortalCASP2 
Broad Tumor PortalCASP2
OASIS PortalCASP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCASP2
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 CASP2
DgiDB (Drug Gene Interaction Database)CASP2
DoCM (Curated mutations)CASP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASP2 (select a term)
intoGenCASP2
Cancer3DCASP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600639   
Orphanet
DisGeNETCASP2
MedgenCASP2
Genetic Testing Registry CASP2
NextProtP42575 [Medical]
TSGene835
GENETestsCASP2
Target ValidationCASP2
Huge Navigator CASP2 [HugePedia]
snp3D : Map Gene to Disease835
BioCentury BCIQCASP2
ClinGenCASP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD835
Chemical/Pharm GKB GenePA26086
Clinical trialCASP2
Miscellaneous
canSAR (ICR)CASP2 (select the gene name)
Probes
Litterature
PubMed160 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASP2
EVEXCASP2
GoPubMedCASP2
iHOPCASP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Feb 28 13:04:26 CET 2018
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