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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 as... See more...
Aliases for CASP4 Gene
Aliases for CASP4 Gene
External Ids for CASP4 Gene
- HGNC: 1505
- Entrez Gene: 837
- Ensembl: ENSG00000196954
- OMIM: 602664
- UniProtKB: P49662
Previous GeneCards Identifiers for CASP4 Gene
- GC11M107006
- GC11M106170
- GC11M104806
- GC11M104351
- GC11M104318
- GC11M100744
Summaries 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 Cystinosis and Cardiomyopathy, Familial Hypertrophic, 1. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Apoptosis Modulation and Signaling. 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 Summary 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 Alzheimer's 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 CGAS and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590).
-
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
- HGNC(1505)
- Entrez Gene(837)
- Ensembl(ENSG00000196954)
- OMIM(602664)
- UniProtKB(P49662)
- Open Targets Platform(ENSG00000196954)
- Search for CASP4 at DataMed
- Search for CASP4 at HumanCyc
No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CASP4 Gene
Genomics for CASP4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CASP4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CASP4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASP4
- Top Transcription factor binding sites by QIAGEN in the CASP4 gene promoter:
-
- TBP
Genomic Locations for CASP4 Gene
Genomic Locations for CASP4 Gene
- chr11:104,942,866-104,969,366
- (GRCh38/hg38)
- Size:
- 26,501 bases
- Orientation:
- Minus strand
- chr11:104,813,593-104,840,163
- (GRCh37/hg19)
- Size:
- 26,571 bases
- Orientation:
- Minus strand
Genomic View for CASP4 Gene
Genes around CASP4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q22.3 by HGNC
- 11q22.3 by Entrez Gene
- 11q22.3 by Ensembl
CASP4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with SERPINB1; this interaction regulates CASP4 activity (PubMed:30692621).
- (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};
- Miscellaneous:
-
- [Isoform 3]: May be due to competing acceptor splice site. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression 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.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CASP4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CASP4 / Caspase 4 Antibody (LS-B710) and CASP4 / Caspase 4 Antibody (LS-B3789)
- G Biosciences Immunotag™ Caspase 4 Antibody and Immunotag™ CASP4 (p20, Cleaved-Gln81) Antibody
- NSJ Bioreagents Caspase-4 Antibody
- Creative Diagnostics Anti-CASP4 monoclonal antibody, clone 8H8
- GeneTex Anti-Caspase 4 antibody
- Novus Biologicals Antibodies for CASP4
-
Abcam antibodies for CASP4
- Invitrogen Antibodies for CASP4 (AFLGC-CASP4)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CASP4
- Sino Biological Antibodies for CASP4
Protein Products
- RayBiotech Recombinant Human Caspase-4
- Search Origene for MassSpec and Protein Over-expression Lysates for CASP4
- Origene Custom Protein Services for CASP4
-
Signalway Proteins for CASP4
-
Abcam proteins for CASP4
Assay Products
- G Biosciences Immunotag™ Human CASP4 (Caspase 4) ELISA and Immunotag™ Caspase-4 ELISA Kit
- Aviva Systems Biology CASP4 ELISA Kit (Human) (OKCD02419)
- Novus Biologicals ELISA Kits for CASP4
- antibodies-online: Show 65 available Caspase 4 Elisa Kits ranked by validation data
- Compare Top Caspase 4 Elisa Kits
-
Quality Products:
- ABIN1113994
- ABIN417232
- ABIN417362
- ABIN1028320
- ABIN1113983
- ABIN5524383
- ABIN5669336
- ABIN512874
- ABIN770670
- ABIN5652655
- ABIN1113982
- ABIN1113992
- ABIN2946124
- ABIN5670190
- ABIN627664
- ABIN772988
- ABIN6254673
- ABIN6227909
- ABIN6227910
- ABIN5070882
- ABIN1113993
- ABIN626843
- ABIN771670
- ABIN6227911
- ABIN1051735
- ABIN1051757
- ABIN1560188
- ABIN1560170
-
Abcam assays for CASP4
Domains & Families for CASP4 Gene
Gene Families for CASP4 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Enzymes
- Predicted intracellular proteins
Protein Domains for CASP4 Gene
- InterPro:
- Blocks:
-
- CARD interaction domain
- Caspase-1, p20
- Interleukin-1B converting enzyme signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CASP4 Gene
- GenScript: Design optimal peptide antigens:
-
- Protease TX (CASP4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P49662UniProtKB/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.
Function for CASP4 Gene
Molecular function for CASP4 Gene
- 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 Alzheimer's 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 CGAS and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=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-|-.; EC=3.4.22.57; Evidence={ECO:0000269|PubMed:23516580};.
- 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.
- 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 EnzymeRegulation:
- Activated by homooligomerization induced by direct binding to cytosolic LPS, in a TLR4-independent manner (PubMed:25119034).
- 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)
Enzyme Numbers (IUBMB) for CASP4 Gene
Phenotypes From GWAS Catalog for CASP4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004197 | cysteine-type endopeptidase activity | IEA,IDA | 16920334 |
| GO:0005515 | protein binding | IPI | 30692621 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008234 | cysteine-type peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for CASP4 Gene
- MGI mutant phenotypes for CASP4:
-
inferred from 4 alleles
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- hematopoietic system phenotype
- integument phenotype
- GenomeRNAi human phenotypes for CASP4:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased viability of wild-type and TP53 knockout cells
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased viability
- Decreased homologous recombination repair frequency
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Downregulation of NFkappaB pathway
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
Animal Models for CASP4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CASP4 - Select products 50% OFF >
- * CASP4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CASP4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CASP4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CASP4
miRNA for CASP4 Gene
- miRTarBase miRNAs that target CASP4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CASP4
- Browse OriGene Inhibitory RNA Products For CASP4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASP4
Clone Products
- Applied Biological Materials (abm): Clones for CASP4 - Select products 50% OFF >
- * CASP4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG205770
- MR205770
- MR205770L3
- MR205770L4
- RC204711
- RC204711L1
- RC204711L2
- RC204711L3
- RC204711L4
- RC217703
- RC217703L1
- RC217703L2
- RC217703L3
- RC217703L4
- RG204711
- RG217703
- RR209196
- RR209196L3
- RR209196L4
- MR205770L3V
- MR205770L4V
- RC204711L1V
- RC204711L2V
- RC204711L3V
- RC204711L4V
- RC217703L1V
- RC217703L2V
- RC217703L3V
- RC217703L4V
- RR209196L3V
- RR209196L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CASP4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CASP4
Cell Line Products
-
Horizon Cell Lines for CASP4
No data available for 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| extracellular | 4 |
| mitochondrion | 4 |
| cytoskeleton | 2 |
| nucleus | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005739 | mitochondrion | IDA | 15123740 |
| GO:0005783 | endoplasmic reticulum | IDA | 15123740 |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
Pathways & Interactions for CASP4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p53 Signaling |
.46
|
p53 Signaling
.46
|
| 2 | TRAF Pathway |
TNF Superfamily Pathway
.42
|
14-3-3 Induced Apoptosis
.33
|
| 3 | Ceramide Pathway |
Ceramide Pathway
.32
|
TNF-Induced Apoptosis Implicating Sphingolipids
.32
|
| 4 | Innate Immune System |
.61
|
|
| 5 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways | ||
Pathways by source for CASP4 Gene
2 Sino Biological pathways for CASP4 Gene
3 BioSystems pathways for CASP4 Gene
4 Reactome pathways for CASP4 Gene
4 KEGG pathways for CASP4 Gene
1 GeneGo (Thomson Reuters) pathway for CASP4 Gene
- Apoptosis and survival Caspase cascade
11 Qiagen pathways for CASP4 Gene
- 14-3-3 Induced Apoptosis
- Ceramide Pathway
- DHA Signaling
- Endothelin-1 Signaling Pathway
- GITR Pathway
1 Cell Signaling Technology pathway for CASP4 Gene
2 GeneTex pathways for CASP4 Gene
Interacting Proteins for CASP4 Gene
GPS-Prot Interaction Network for CASP4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002376 | immune system process | IEA | -- |
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006915 | NOT apoptotic process | IBA | 21873635 |
| GO:0006919 | NOT activation of cysteine-type endopeptidase activity involved in apoptotic process | IBA | 21873635 |
| GO:0006954 | inflammatory response | IEA | -- |
Drugs & Compounds for CASP4 Gene
| 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 | 3412 | ||
| Incadronic acid | Experimental | Pharma | Target, activator | 0 | ||
| Tasisulam | Investigational | Pharma | 0 | |||
| Apoptosis Activator 2 | Pharma | Indoledione caspase activator, cell-permeable, Promotes apoptosome formation and activates caspase-9/caspase-3 pathway. Selectively induces tumor cell apoptosis | 0 | |||
| PETCM | Pharma | Activator | Caspase-3 activator, Activator of caspase-3 | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| PAC 1 |
|
315183-21-2 |
|
|
(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 |
Transcripts for CASP4 Gene
mRNA/cDNA for CASP4 Gene
- 3 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000393150 1340 nts (view in UCSC)
- ENST00000417440 763 nts (view in UCSC)
- ENST00000444739 1296 nts (view in UCSC)
- ENST00000524843 978 nts (view in UCSC)
- ENST00000525116 684 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CASP4 - Select products 50% OFF >
- * CASP4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CASP4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CASP4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CASP4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CASP4
- Browse OriGene Inhibitory RNA Products For CASP4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASP4
Clone Products
- Applied Biological Materials (abm): Clones for CASP4 - Select products 50% OFF >
- * CASP4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG205770
- MR205770
- MR205770L3
- MR205770L4
- RC204711
- RC204711L1
- RC204711L2
- RC204711L3
- RC204711L4
- RC217703
- RC217703L1
- RC217703L2
- RC217703L3
- RC217703L4
- RG204711
- RG217703
- RR209196
- RR209196L3
- RR209196L4
- MR205770L3V
- MR205770L4V
- RC204711L1V
- RC204711L2V
- RC204711L3V
- RC204711L4V
- RC217703L1V
- RC217703L2V
- RC217703L3V
- RC217703L4V
- RR209196L3V
- RR209196L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CASP4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CASP4
| 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
Expression for CASP4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- S-shaped Body Cells S-shaped Body
- Medullary Stroma Cells Interstitial Stroma
- Renal Vesicle
- S-shaped Body
- Interstitial Stroma
-
Heart (Cardiovascular System)
- Mature Cardiac Fibroblasts Myocardium
- Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Mature Cardiac Fibroblasts Myocardium
- Cardiac Fibroblasts Myocardium
- Inner Cell Mass (Early Embryonic Tissues)
-
Liver (Hepatobiliary System)
- Mature Mesothelial Cells Liver Lobule
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
-
Epithelial Cells
- Duct Cells Pancreatic Ducts
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Neural Ectoderm (Nervous System)
- Epidermis (Integumentary System)
- Hair
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for CASP4 Gene
This gene is overexpressed in Whole Blood (x12.6).
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, MaxQB, and MOPED for CASP4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CASP4
SOURCE GeneReport for Unigene cluster for CASP4 Gene:
Hs.138378mRNA 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(4.6)
- Blood(4.6)
- Lung(3.5)
- Liver(3.1)
- Spleen(3)
- Lymph node(2.9)
- Skin(2.9)
- Nervous system(2.6)
- Kidney(2.6)
- Bone marrow(2.5)
- Heart(2.5)
- Stomach(2.5)
- Muscle(2.2)
- Pancreas(2.2)
Primer Products
-
OriGene qPCR primer pairs for CASP4
-
OriGene qPCR primer pairs and template standards for CASP4
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CASP4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CASP4 30 |
|
||
| CASP13 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Casp4 30 17 31 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Casp4 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | CASP4 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Zebrafish (Danio rerio) |
Actinopterygii | caspbl 31 |
|
ManyToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nc 31 |
|
ManyToMany | |
| Dredd 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | csp-2 31 |
|
ManyToMany |
- Species where no ortholog for CASP4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CASP4: view image
Paralogs for CASP4 Gene
Paralogs for CASP4 Gene
(6) SIMAP similar genes for CASP4 Gene using alignment to 3 proteins:
- CASP4_HUMAN
- E9PMT1_HUMAN
- H0YD34_HUMAN
Pseudogenes.org Pseudogenes for CASP4 Gene
Variants for CASP4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASP4 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 781813 | Benign: not provided | 104,944,774(-) | G/GA | FRAMESHIFT_VARIANT | |
| 787097 | Benign: not provided | 104,954,870(-) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 787387 | Benign: not provided | 104,948,606(-) | C/A | MISSENSE_VARIANT | |
| rs181090259 | - | p.Arg134Cys | |||
| rs55901059 | - | p.Glu284Asp |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP4 Gene
Disorders for CASP4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cystinosis |
|
|
| cardiomyopathy, familial hypertrophic, 1 |
|
|
| cowpox |
|
|
| neuroblastoma |
|
|
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
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CASP4 Gene
Publications for CASP4 Gene
- 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 23 41
- 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 23
- 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 23
- 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
- SERPINB1-mediated checkpoint of inflammatory caspase activation. (PMID: 30692621) Choi YJ … Jung JU (Nature immunology 2019) 3 4
ExternalLinks
Products for CASP4 Gene
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- antibodies-online: Show 182 available Caspase 4 Antibodies ranked by validation data
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- ABIN5652655
- ABIN1113982
- ABIN1113992
- ABIN2946124
- ABIN5670190
- ABIN627664
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- ABIN626843
- ABIN771670
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- ABIN1051735
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- antibodies-online: Show 25 available Caspase 4 Proteins ranked by validation data
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Sources for CASP4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
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- (42) BGMUT
- (43) HuGE
- (44) Atlas
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
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