Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASP4 (caspase 4)

Identity

Alias_namescaspase 4, apoptosis-related cysteine protease
caspase 4, apoptosis-related cysteine peptidase
Alias_symbol (synonym)ICE(rel)II
ICH-2
TX
Other aliasICEREL-II
Mih1
Mih1/TX
HGNC (Hugo) CASP4
LocusID (NCBI) 837
Atlas_Id 921
Location 11q22.3  [Link to chromosome band 11q22]
Location_base_pair Starts at 104942867 and ends at 104956695 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)
CASP4 (11q22.3) / PIK3R4 (3q22.1)MEGF6 (1p36.32) / CASP4 (11q22.3)

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)CASP4   1505
Cards
Entrez_Gene (NCBI)CASP4  837  caspase 4
AliasesICE(rel)II; ICEREL-II; ICH-2; Mih1; 
Mih1/TX; TX
GeneCards (Weizmann)CASP4
Ensembl hg19 (Hinxton)ENSG00000196954 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196954 [Gene_View]  ENSG00000196954 [Sequence]  chr11:104942867-104956695 [Contig_View]  CASP4 [Vega]
ICGC DataPortalENSG00000196954
TCGA cBioPortalCASP4
AceView (NCBI)CASP4
Genatlas (Paris)CASP4
WikiGenes837
SOURCE (Princeton)CASP4
Genetics Home Reference (NIH)CASP4
Genomic and cartography
GoldenPath hg38 (UCSC)CASP4  -     chr11:104942867-104956695 -  11q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASP4  -     11q22.3   [Description]    (hg19-Feb_2009)
GoldenPathCASP4 - 11q22.3 [CytoView hg19]  CASP4 - 11q22.3 [CytoView hg38]
ImmunoBaseENSG00000196954
Mapping of homologs : NCBICASP4 [Mapview hg19]  CASP4 [Mapview hg38]
OMIM602664   
Gene and transcription
Genbank (Entrez)AI128358 AK057094 AK225751 AK296081 AK304222
RefSeq transcript (Entrez)NM_001225 NM_033306 NM_033307
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASP4
Cluster EST : UnigeneHs.138378 [ NCBI ]
CGAP (NCI)Hs.138378
Alternative Splicing GalleryENSG00000196954
Gene ExpressionCASP4 [ NCBI-GEO ]   CASP4 [ EBI - ARRAY_EXPRESS ]   CASP4 [ SEEK ]   CASP4 [ MEM ]
Gene Expression Viewer (FireBrowse)CASP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)837
GTEX Portal (Tissue expression)CASP4
Human Protein AtlasENSG00000196954-CASP4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49662   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49662  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49662
Splice isoforms : SwissVarP49662
Catalytic activity : Enzyme3.4.22.57 [ Enzyme-Expasy ]   3.4.22.573.4.22.57 [ IntEnz-EBI ]   3.4.22.57 [ BRENDA ]   3.4.22.57 [ KEGG ]   
PhosPhoSitePlusP49662
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_sf    Caspase_cys_AS    Caspase_his_AS    DEATH-like_dom_sf    Pept_C14_p10    Pept_C14_p20    Pept_C14A   
Domain families : Pfam (Sanger)CARD (PF00619)   
Domain families : Pfam (NCBI)pfam00619   
Domain families : Smart (EMBL)CARD (SM00114)  CASc (SM00115)  
Conserved Domain (NCBI)CASP4
DMDM Disease mutations837
Blocks (Seattle)CASP4
SuperfamilyP49662
Human Protein Atlas [tissue]ENSG00000196954-CASP4 [tissue]
Peptide AtlasP49662
HPRD04047
IPIIPI00027725   IPI00941180   IPI00910956   IPI00383774   IPI00376080   IPI00974338   IPI00983433   
Protein Interaction databases
DIP (DOE-UCLA)P49662
IntAct (EBI)P49662
FunCoupENSG00000196954
BioGRIDCASP4
STRING (EMBL)CASP4
ZODIACCASP4
Ontologies - Pathways
QuickGOP49662
Ontology : AmiGOcysteine-type endopeptidase activity  cysteine-type endopeptidase activity  protein binding  extracellular region  cytoplasm  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  plasma membrane  proteolysis  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  inflammatory response  protein-containing complex  innate immune response  CARD domain binding  inflammasome complex  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  cysteine-type endopeptidase activity involved in apoptotic process  intrinsic apoptotic signaling pathway  execution phase of apoptosis  cysteine-type endopeptidase activity involved in apoptotic signaling pathway  positive regulation of tumor necrosis factor-mediated signaling pathway  cellular response to amyloid-beta  
Ontology : EGO-EBIcysteine-type endopeptidase activity  cysteine-type endopeptidase activity  protein binding  extracellular region  cytoplasm  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  plasma membrane  proteolysis  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  inflammatory response  protein-containing complex  innate immune response  CARD domain binding  inflammasome complex  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  cysteine-type endopeptidase activity involved in apoptotic process  intrinsic apoptotic signaling pathway  execution phase of apoptosis  cysteine-type endopeptidase activity involved in apoptotic signaling pathway  positive regulation of tumor necrosis factor-mediated signaling pathway  cellular response to amyloid-beta  
NDEx NetworkCASP4
Atlas of Cancer Signalling NetworkCASP4
Wikipedia pathwaysCASP4
Orthology - Evolution
OrthoDB837
GeneTree (enSembl)ENSG00000196954
Phylogenetic Trees/Animal Genes : TreeFamCASP4
HOGENOMP49662
Homologs : HomoloGeneCASP4
Homology/Alignments : Family Browser (UCSC)CASP4
Gene fusions - Rearrangements
Fusion : QuiverCASP4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASP4
dbVarCASP4
ClinVarCASP4
1000_GenomesCASP4 
Exome Variant ServerCASP4
ExAC (Exome Aggregation Consortium)ENSG00000196954
GNOMAD BrowserENSG00000196954
Varsome BrowserCASP4
Genetic variants : HAPMAP837
Genomic Variants (DGV)CASP4 [DGVbeta]
DECIPHERCASP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASP4 
Mutations
ICGC Data PortalCASP4 
TCGA Data PortalCASP4 
Broad Tumor PortalCASP4
OASIS PortalCASP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASP4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCASP4
Mutations and Diseases : HGMDCASP4
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 CASP4
DgiDB (Drug Gene Interaction Database)CASP4
DoCM (Curated mutations)CASP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASP4 (select a term)
intoGenCASP4
Cancer3DCASP4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602664   
Orphanet
DisGeNETCASP4
MedgenCASP4
Genetic Testing Registry CASP4
NextProtP49662 [Medical]
TSGene837
GENETestsCASP4
Target ValidationCASP4
Huge Navigator CASP4 [HugePedia]
snp3D : Map Gene to Disease837
BioCentury BCIQCASP4
ClinGenCASP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD837
Chemical/Pharm GKB GenePA26088
Clinical trialCASP4
Miscellaneous
canSAR (ICR)CASP4 (select the gene name)
DataMed IndexCASP4
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASP4
EVEXCASP4
GoPubMedCASP4
iHOPCASP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:35:30 CET 2019
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