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Aliases for CASP4 Gene

Aliases for CASP4 Gene

  • Caspase 4 2 3 5
  • Caspase 4, Apoptosis-Related Cysteine Peptidase 2 3
  • Caspase 4, Apoptosis-Related Cysteine Protease 2 3
  • ICE And Ced-3 Homolog 2 3 4
  • Protease TX 3 4
  • ICE(Rel)-II 3 4
  • CASP-4 3 4
  • ICH-2 3 4
  • Mih1 3 4
  • Apoptotic Cysteine Protease Mih1/TX 3
  • Protease ICH-2 3
  • EC 3.4.22.57 4
  • ICE(Rel)II 3
  • ICEREL-II 3
  • Caspase-4 3
  • EC 3.4.22 56
  • Mih1/TX 3
  • ICH2 4
  • TX 3

External Ids for CASP4 Gene

Previous GeneCards Identifiers for CASP4 Gene

  • GC11M107006
  • GC11M106170
  • GC11M104806
  • GC11M104351
  • GC11M104318
  • GC11M100744

Summaries for CASP4 Gene

Entrez Gene Summary for CASP4 Gene

  • This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for CASP4 Gene

CASP4 (Caspase 4) is a Protein Coding gene. Diseases associated with CASP4 include Neuroblastoma. Among its related pathways are Apoptosis Modulation and Signaling and Apoptosis and survival Caspase cascade. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and cysteine-type endopeptidase activity involved in execution phase of apoptosis. An important paralog of this gene is CASP5.

UniProtKB/Swiss-Prot for CASP4 Gene

  • Inflammatory caspase (PubMed:7797510, PubMed:23516580, PubMed:25119034). Essential effector of NLRP3 inflammasome-dependent CASP1 activation and IL1B and IL18 secretion in response to non-canonical activators, such as UVB radiation, cholera enterotoxin subunit B and cytosolic LPS (PubMed:22246630, PubMed:26174085, PubMed:26173988, PubMed:26508369, PubMed:25964352). Independently of NLRP3 inflammasome and CASP1, promotes pyroptosis, through GSDMD cleavage and activation, and IL1A, IL18 and HMGB1 release in response to non-canonical inflammasome activators (PubMed:24879791, PubMed:25964352). Plays a crucial role in the restriction of Salmonella typhimurium replication in colonic epithelial cells during infection (PubMed:25121752). In later stages of the infection, LPS from cytosolic Salmonella triggers CASP4 activation, which ultimately results in pyroptosis of infected cells and their extrusion into the gut lumen, as well as in IL18 secretion. Pyroptosis limits bacterial replication, while cytokine secretion promotes the recruitment and activation of immune cells and triggers mucosal inflammation. Involved in LPS-induced IL6 secretion; this activity may not require caspase enzymatic activity (PubMed:26508369). Involved in cell death induced by endoplasmic reticulum stress and by treatment with cytotoxic APP peptides found Alzheimers patient brains (PubMed:15123740, PubMed:22246630, PubMed:23661706). Activated by direct binding to LPS without the need of an upstream sensor (PubMed:25119034). Does not directly process IL1B (PubMed:7743998, PubMed:7797592, PubMed:7797510). During non-canonical inflammasome activation, cuts MB21D1 and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590).

Tocris Summary for CASP4 Gene

  • Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

Additional gene information for CASP4 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP4 Gene

Genomics for CASP4 Gene

GeneHancer (GH) Regulatory Elements for CASP4 Gene

Promoters and enhancers for CASP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I104965 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 575.6 +1.7 1699 4.9 ELF3 ARID4B BRCA1 ZNF48 RAD21 YY1 ETV6 IKZF2 THAP11 MIXL1 CASP4 LOC643733 CASP5 CASP12 CARD17 CARD16
GH11I104956 Promoter 1.1 EPDnew 550.4 +12.8 12782 0.1 ELF3 SOX13 FOXA2 SAP130 JUN CEBPG ZNF644 TEAD3 HOMEZ THAP11 CASP4 LOC643733
GH11I105032 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.1 -64.9 -64887 3.7 TAF1 MAX CEBPG BATF RAD21 YY1 POLR2A IKZF2 CEBPB JUNB CASP1 CARD17 CASP4 CASP5 CARD16 CASP1P2
GH11I104704 Enhancer 1.1 FANTOM5 Ensembl ENCODE 12.4 +263.4 263355 3.6 PKNOX1 JUNB ELF1 BATF YY1 POLR2A NFATC1 FOXP2 ATF7 ETV6 CASP4 CARD17 LOC643733 CARD16 LINC02552 CASP5 ENSG00000270449 PIR54951
GH11I104875 Enhancer 0.9 FANTOM5 Ensembl ENCODE 11.2 +92.7 92741 2.2 RCOR1 EBF1 CHD2 CASP4 LOC643733 CASP5 CARD17 CARD16 ENSG00000254569 CASP12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CASP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASP4 gene promoter:

Genomic Locations for CASP4 Gene

Genomic Locations for CASP4 Gene
chr11:104,942,866-104,969,436
(GRCh38/hg38)
Size:
26,571 bases
Orientation:
Minus strand
chr11:104,813,593-104,840,163
(GRCh37/hg19)

Genomic View for CASP4 Gene

Genes around CASP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP4 Gene

Proteins for CASP4 Gene

  • Protein details for CASP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49662-CASP4_HUMAN
    Recommended name:
    Caspase-4
    Protein Accession:
    P49662
    Secondary Accessions:
    • A2NHL8
    • A2NHL9
    • A2NHM0
    • B3KPZ9
    • B4DJH5
    • B4E2D2
    • O95601
    • Q7KYX7
    • Q9UG96

    Protein attributes for CASP4 Gene

    Size:
    377 amino acids
    Molecular mass:
    43262 Da
    Quaternary structure:
    • Upon direct LPS-binding, forms large homooligomers, resulting in its activation. These oligomers are often referred to as non-canonical inflammasomes (PubMed:25119034). Active as a heterotetramer consisting of two anti-parallel arranged heterodimers, each one formed by a small and a large subunit (By similarity). In its precursor form, interacts with TMEM214; this interaction is required for association with the endoplasmic reticulum membrane (PubMed:23661706). Interacts with CASP1 (PubMed:22246630). Interacts with NOD2 (PubMed:18511561).
    • (Microbial infection) Interacts with NleF protein from pathogenic E.coli; this interaction leads to enzyme inhibition.
    SequenceCaution:
    • Sequence=AAC99854.1; Type=Erroneous translation; Note=Erroneous CDS prediction.; Evidence={ECO:0000305}; Sequence=EAW67050.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CASP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP4 Gene

Selected DME Specific Peptides for CASP4 Gene

P49662:
  • SMTRYFYLFPG
  • HVEKDFIAF
  • SSTPHNVSWR
  • LITCFQKY
  • DKPKVII
  • EIYPIKE
  • SDSTFLV
  • RTRLALIICN
  • EKDFIAFCSSTP
  • QMPTIER

Post-translational modifications for CASP4 Gene

  • In response to activation signals, including endoplasmic reticulum stress or treatment with amyloid-beta A4 protein fragments (such as amyloid-beta protein 40), undergoes autoproteolytic cleavage.

Other Protein References for CASP4 Gene

Antibody Products

Domains & Families for CASP4 Gene

Gene Families for CASP4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CASP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49662

UniProtKB/Swiss-Prot:

CASP4_HUMAN :
  • The CARD domain mediates LPS recognition and homooligomerization.
  • Belongs to the peptidase C14A family.
Domain:
  • The CARD domain mediates LPS recognition and homooligomerization.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP4: view

Function for CASP4 Gene

Molecular function for CASP4 Gene

GENATLAS Biochemistry:
caspase 4,cysteine containing aspartate-specific protease,CASP1 subfamily,potentially involved in procytokine activation,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,promoting apoptosis,homolog to mammalian interleukin 1 beta convertase (IL1BC)
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=681 uM for synthetic peptide acetyl-YVAD-p-nitroanilide {ECO:0000269 PubMed:7797510}; Note=Values obtained using the partial C-terminal enzyme sequence of 105-377. {ECO:0000269 PubMed:7797510};
UniProtKB/Swiss-Prot CatalyticActivity:
Strict requirement for Asp at the P1 position. It has a preferred cleavage sequence of Tyr-Val-Ala-Asp- - but also cleaves at Asp-Glu-Val-Asp- -.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by homooligomerization induced by direct binding to cytosolic LPS, in a TLR4-independent manner (PubMed:25119034).
UniProtKB/Swiss-Prot EnzymeRegulation:
(Microbial infection) Inhibited by the effector protein NleF produced by pathogenic E.coli; this inhibits apoptosis (PubMed:23516580).
UniProtKB/Swiss-Prot Function:
Inflammatory caspase (PubMed:7797510, PubMed:23516580, PubMed:25119034). Essential effector of NLRP3 inflammasome-dependent CASP1 activation and IL1B and IL18 secretion in response to non-canonical activators, such as UVB radiation, cholera enterotoxin subunit B and cytosolic LPS (PubMed:22246630, PubMed:26174085, PubMed:26173988, PubMed:26508369, PubMed:25964352). Independently of NLRP3 inflammasome and CASP1, promotes pyroptosis, through GSDMD cleavage and activation, and IL1A, IL18 and HMGB1 release in response to non-canonical inflammasome activators (PubMed:24879791, PubMed:25964352). Plays a crucial role in the restriction of Salmonella typhimurium replication in colonic epithelial cells during infection (PubMed:25121752). In later stages of the infection, LPS from cytosolic Salmonella triggers CASP4 activation, which ultimately results in pyroptosis of infected cells and their extrusion into the gut lumen, as well as in IL18 secretion. Pyroptosis limits bacterial replication, while cytokine secretion promotes the recruitment and activation of immune cells and triggers mucosal inflammation. Involved in LPS-induced IL6 secretion; this activity may not require caspase enzymatic activity (PubMed:26508369). Involved in cell death induced by endoplasmic reticulum stress and by treatment with cytotoxic APP peptides found Alzheimers patient brains (PubMed:15123740, PubMed:22246630, PubMed:23661706). Activated by direct binding to LPS without the need of an upstream sensor (PubMed:25119034). Does not directly process IL1B (PubMed:7743998, PubMed:7797592, PubMed:7797510). During non-canonical inflammasome activation, cuts MB21D1 and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590).
UniProtKB/Swiss-Prot Induction:
In peripheral blood mononuclear cells and purified monocytes, up-regulated by bacterial lipopolysaccharides (LPS) and interferon-beta/IFNB1 at the mRNA level (PubMed:16893518, PubMed:24879791). However, this increase is not observed at the protein level, which remains constant in monocytes and other cell types following LPS treatment (PubMed:25121752) (PubMed:26508369). In monocyte-derived macrophages, some up-regulation at the protein level is observed following treatment with LPS and IFNB1 (PubMed:25964352). In SH-EP1 neuroblastoma cell line, up-regulated by NF-kappa-B RELA/p65 at both mRNA and protein levels.

Enzyme Numbers (IUBMB) for CASP4 Gene

Gene Ontology (GO) - Molecular Function for CASP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IEA,IDA 16920334
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0050700 CARD domain binding IPI 16920334
genes like me logo Genes that share ontologies with CASP4: view
genes like me logo Genes that share phenotypes with CASP4: view

Animal Models for CASP4 Gene

MGI Knock Outs for CASP4:

miRNA for CASP4 Gene

miRTarBase miRNAs that target CASP4

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASP4 Gene

Localization for CASP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP4 Gene

Cytoplasm, cytosol. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Mitochondrion. Inflammasome. Secreted. Note=Predominantly localizes to the endoplasmic reticulum (ER). Association with the ER membrane requires TMEM214 (PubMed:15123740). Released in the extracellular milieu by keratinocytes following UVB irradiation (PubMed:22246630). {ECO:0000269 PubMed:15123740, ECO:0000269 PubMed:22246630}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASP4 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
endoplasmic reticulum 5
cytosol 5
extracellular 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 15123740
GO:0005783 endoplasmic reticulum IDA 15123740
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with CASP4: view

Pathways & Interactions for CASP4 Gene

genes like me logo Genes that share pathways with CASP4: view

Pathways by source for CASP4 Gene

3 Sino Biological pathways for CASP4 Gene
2 GeneTex pathways for CASP4 Gene
1 Cell Signaling Technology pathway for CASP4 Gene

Gene Ontology (GO) - Biological Process for CASP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process TAS 7743998
GO:0006954 inflammatory response IEA --
GO:0012501 programmed cell death IEA --
GO:0042981 regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with CASP4: view

No data available for SIGNOR curated interactions for CASP4 Gene

Drugs & Compounds for CASP4 Gene

(12) Drugs for CASP4 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Tasisulam Investigational Pharma 0
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable 0

(2) Additional Compounds for CASP4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for CASP4 Gene

Compound Action Cas Number
Apoptosis Activator 2 Promotes apoptosome formation and activates caspase-9/caspase-3 pathway. Selectively induces tumor cell apoptosis 79183-19-0
Cisplatin Potent pro-apoptotic anticancer agent; activates caspase-3 15663-27-1
PAC 1 Activator of procaspase-3; pro-apoptotic 315183-21-2
PETCM Activator of caspase-3 10129-56-3

(3) ApexBio Compounds for CASP4 Gene

Compound Action Cas Number
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Cisplatin Inhibits DNA synthesis,chemotherapy drug 15663-27-1
Tasisulam 519055-62-0
genes like me logo Genes that share compounds with CASP4: view

Drug Products

Transcripts for CASP4 Gene

Unigene Clusters for CASP4 Gene

Caspase 4, apoptosis-related cysteine peptidase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASP4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: -
SP2:
SP3: - - -
SP4:

Relevant External Links for CASP4 Gene

GeneLoc Exon Structure for
CASP4
ECgene alternative splicing isoforms for
CASP4

Expression for CASP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP4 Gene

This gene is overexpressed in Whole Blood (x12.6).

Protein differential expression in normal tissues from HIPED for CASP4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.9), Cervix (8.6), and Monocytes (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CASP4 Gene



Protein tissue co-expression partners for CASP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASP4 Gene:

CASP4

SOURCE GeneReport for Unigene cluster for CASP4 Gene:

Hs.138378

mRNA Expression by UniProt/SwissProt for CASP4 Gene:

P49662-CASP4_HUMAN
Tissue specificity: Widely expressed, including in keratinocytes and colonic and small intestinal epithelial cells (at protein level). Not detected in brain.

Evidence on tissue expression from TISSUES for CASP4 Gene

  • Intestine(4.5)
  • Blood(4.4)
  • Lung(3.2)
  • Liver(2.6)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with CASP4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP4 Gene

Orthologs for CASP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASP4 33 34
  • 99.29 (n)
cow
(Bos Taurus)
Mammalia CASP4 33
  • 82.23 (n)
CASP13 34
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Casp4 33 16 34
  • 69.26 (n)
rat
(Rattus norvegicus)
Mammalia Casp4 33
  • 68.54 (n)
dog
(Canis familiaris)
Mammalia CASP4 34
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 47 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 42 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii caspbl 34
  • 28 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Nc 34
  • 17 (a)
ManyToMany
Dredd 34
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea csp-2 34
  • 9 (a)
ManyToMany
Species where no ortholog for CASP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CASP4 Gene

ENSEMBL:
Gene Tree for CASP4 (if available)
TreeFam:
Gene Tree for CASP4 (if available)

Paralogs for CASP4 Gene

Paralogs for CASP4 Gene

(6) SIMAP similar genes for CASP4 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CASP4 Gene

genes like me logo Genes that share paralogs with CASP4: view

Variants for CASP4 Gene

Sequence variations from dbSNP and Humsavar for CASP4 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000087858 -- 104,962,954(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000268679 -- 104,946,392(-) G/A/C intron_variant
rs1000458409 -- 104,963,157(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000554274 -- 104,960,328(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000601173 -- 104,945,182(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CASP4 Gene

Variant ID Type Subtype PubMed ID
esv2750978 CNV gain 17911159
nsv1038877 CNV gain 25217958
nsv1040784 CNV loss 25217958
nsv1041081 CNV loss 25217958
nsv1046098 CNV loss 25217958
nsv1052674 CNV loss 25217958
nsv468862 CNV gain 19166990
nsv469 CNV insertion 18451855
nsv556218 CNV gain 21841781
nsv832255 CNV loss 17160897
nsv975222 CNV duplication 23825009

Variation tolerance for CASP4 Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CASP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP4 Gene

Disorders for CASP4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CASP4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search CASP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CASP4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CASP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP4 Gene

Publications for CASP4 Gene

  1. Mutational analysis of CASP1, 2, 3, 4, 5, 6, 7, 8, 9, 10, and 14 genes in gastrointestinal stromal tumors. (PMID: 19269008) Kim YR … Lee SH (Human pathology 2009) 3 22 44 58
  2. Involvement of caspase-4 in endoplasmic reticulum stress-induced apoptosis and Abeta-induced cell death. (PMID: 15123740) Hitomi J … Tohyama M (The Journal of cell biology 2004) 3 4 22 58
  3. Identification and characterization of ICH-2, a novel member of the interleukin-1 beta-converting enzyme family of cysteine proteases. (PMID: 7797510) Kamens J … Li P (The Journal of biological chemistry 1995) 2 3 4 58
  4. Molecular cloning and pro-apoptotic activity of ICErelII and ICErelIII, members of the ICE/CED-3 family of cysteine proteases. (PMID: 7797592) Munday NA … Nicholson DW (The Journal of biological chemistry 1995) 3 4 22 58
  5. NF-κB regulates caspase-4 expression and sensitizes neuroblastoma cells to Fas-induced apoptosis. (PMID: 25695505) Yang HJ … Feng ZW (PloS one 2015) 3 4 58

Products for CASP4 Gene

Sources for CASP4 Gene

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