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CASP4 Gene

protein-coding   GIFtS: 67
GCID: GC11M104806

Caspase 4, Apoptosis-Related Cysteine Peptidase

(Previous names: caspase 4, apoptosis-related cysteine protease)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Caspase 4, Apoptosis-Related Cysteine Peptidase1 2     ICH-22
Caspase 4, Apoptosis-Related Cysteine Protease1 2     Mih1/TX2
Protease ICH-22 3     TX2
Protease TX2 3     Apoptotic Cysteine Protease Mih1/TX2
CASP-42 3     caspase-42
ICE(rel)-II2 3     EC 3.4.22.573
ICE(rel)II2     ICH23
ICEREL-II2     EC 3.4.228

External Ids:    HGNC: 15051   Entrez Gene: 8372   Ensembl: ENSG000001969547   OMIM: 6026645   UniProtKB: P496623   

Export aliases for CASP4 gene to outside databases

Previous GC identifers: GC11M107006 GC11M106170 GC11M104351 GC11M104318 GC11M100744


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, apoptosis-related cysteine peptidase) is a protein-coding gene. Diseases associated with CASP4 include nephropathic cystinosis, and cowpox. GO annotations related to this gene include cysteine-type endopeptidase activity. An important paralog of this gene is CASP16.

UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662
Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Involved in
ER-stress induced apoptosis. Cleaves caspase-1

summary for CASP4 Gene:
Caspases (short for 'cysteinyl aspartate proteases') are involved in the signal transduction pathways of
apoptosis, necrosis and inflammation. These enzymes can be divided into two major classes - initiators and
effectors. The initiator isoforms (caspases-1,-4,-5,-8,-9,-10,-11,-12) are activated by, and interact with,
upstream adaptor molecules through protein-protein interaction domains known as CARD and DED. Effector
caspases (-3,-6,-7) are responsible for cleaving downstream substrates and are sometimes referred to as the
executioner caspases. More than 400 caspase substrates have so far been identified (see The Caspase
Substrate Database). Initiator caspases, such as caspase 8, may be directly activated by death receptors
such as FasR. Caspases can also be found intracellularly as part of large multiprotein complexes. For
example, caspase 9 is recruited to the apoptosome formed during apoptosis, whilst caspases-1 and 5 can form
part of the inflammasome, a key part of cytokine processing during inflammation. Caspases are regulated by
inhibitors of apoptosis and by dominant negative isoforms. They have been implicated in the pathogenesis of
many disorders including stroke, Alzheimer's disease, myocardial infarction, cancer, and inflammatory
disease.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the CASP4 gene promoter:
         TBP   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CASP4 promoter sequence
   Search Chromatin IP Primers for CASP4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASP4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22.2-q22.3   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q22.2-q22.3

CASP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M104806:  view genomic region     (about GC identifiers)

Start:
104,813,593 bp from pter      End:
104,840,163 bp from pter
Size:
26,571 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662 (See protein sequence)
Recommended Name: Caspase-4 precursor  
Size: 377 amino acids; 43262 Da
Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a small and a
large subunit (By similarity). Interacts with NleF from pathogenic E.coli. Interacts with TMEM214, the
interaction is required for ER membrane localization
Secondary accessions: A2NHL8 A2NHM0
Alternative splicing: 2 isoforms:  P49662-1   P49662-2   

Explore the universe of human proteins at neXtProt for CASP4: NX_P49662

Explore proteomics data for CASP4 at MOPED

Post-translational modifications: 

  • The two subunits are derived from the precursor sequence by an autocatalytic mechanism or by cleavage by Caspase-81
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CASP4 (P49662) (see all 10)
     EIYPIKE  QMPTIER  SDSTFLV  DKPKVII 


    See CASP4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001216.1  NP_150649.1  

    ENSEMBL proteins: 
     ENSP00000388566   ENSP00000376857   ENSP00000432879   ENSP00000401673  
    Reactome Protein details: P49662

    CASP4 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CASP4
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CASP4
    GenScript Custom Purified and Recombinant Proteins Services for CASP4
    Novus Biologicals CASP4 Proteins
    Novus Biologicals CASP4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASP4

    CASP4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    LSBio Antibodies in human, mouse, rat for CASP4

    CASP4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems Enzyme Activity Assays & Reagents for CASP4 (Caspase-4)
    GenScript CASP4-Activity-based Protease?src=genec Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CASP4
    Cloud-Clone Corp. CLIAs for CASP4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CASP: Caspases

    IUPHAR Guide to PHARMACOLOGY protein family classification: Caspase 4
    Caspases

    Selected InterPro protein domains (see all 8):
     IPR001309 Pept_C14_ICE_p20
     IPR011029 DEATH-like_dom
     IPR017350 Caspase_IL-1_beta
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14A_p45_core

    Graphical View of Domain Structure for InterPro Entry P49662

    ProtoNet protein and cluster: P49662

    3 Blocks protein domains:
    IPB001309 Caspase-1
    IPB001315 CARD interaction domain
    IPB002398 Interleukin-1B converting enzyme signature


    UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662
    Similarity: Belongs to the peptidase C14A family
    Similarity: Contains 1 CARD domain


    CASP4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CASP4_HUMAN, P49662
    Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Involved in
    ER-stress induced apoptosis. Cleaves caspase-1
    Catalytic activity: 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- -
    Enzyme regulation: Inhibited by the effector protein NleF that is produced by pathogenic E.coli; this inhibits
    apoptosis

         Genatlas biochemistry entry for CASP4:
    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): EC 3.4.222 EC 3.4.22.571

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity IBA--
    GO:0005515protein binding ----
    GO:0008234cysteine-type peptidase activity ----
         
    CASP4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CASP4:
     Decreased viability of wild-ty 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Casp4):
     cardiovascular system  cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  nervous system  renal/urinary system 
     reproductive system  tumorigenesis 

    CASP4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CASP4: Casp4tm1.1Gne Casp4tm1Yuan Casp1/Casp4Casp1/tm1Bhk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CASP4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CASP4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASP4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASP4

    miRNA
    Products:
        
    miRTarBase miRNAs that target CASP4:
    hsa-mir-26b-5p (MIRT030229)

    Block miRNA regulation of human, mouse, rat CASP4 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CASP4
    SwitchGear 3'UTR luciferase reporter plasmidCASP4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CASP4
    Predesigned siRNA for gene silencing in human, mouse, rat CASP4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CASP4

    Clone
    Products:
         
    OriGene clones in human, mouse for CASP4 (see all 13)
    OriGene ORF clones in mouse, rat for CASP4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CASP4 (NM_033306)
    Sino Biological Human cDNA Clone for CASP4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CASP4
    Browse ESI BIO Cell Lines and PureStem Progenitors for CASP4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CASP4_HUMAN, P49662: Endoplasmic reticulum membrane. Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    endoplasmic reticulum3
    mitochondrion2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IBA--
    GO:0005739mitochondrion IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0072557IPAF inflammasome complex IBA--

    CASP4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CASP4 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    2p53 Signaling
    p53 Signaling0.38
    p53 Pathway0.38
    3Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.68
    NOD1/2 Signaling Pathway0.68
    4Ceramide Pathway
    Ceramide Pathway0.32
    TNF-Induced Apoptosis Implicating Sphingolipids0.32
    5Apoptotic Pathways in Synovial Fibroblasts
    DHA Signaling0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CASP4 (see all 11)
        14-3-3 Induced Apoptosis
    DHA Signaling
    S-1P Stimulated Signaling
    Endothelin-1 Signaling Pathway
    TNF-Induced Apoptosis Implicating Sphingolipids

    1 Cell Signaling Technology (CST) Pathway for CASP4
        Apoptosis and Autophagy

    1 GeneGo (Thomson Reuters) Pathway for CASP4
        Apoptosis and survival Caspase cascade

    2 BioSystems Pathways for CASP4
        Apoptosis
    Caspase cascade in apoptosis

    3 Sino Biological Pathways for CASP4
        EGFR Signaling Pathway
    p53 Pathway
    Death Receptor Signaling

    1 Reactome Pathway for CASP4
        NOD1/2 Signaling Pathway



    CASP4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASP4: 
              Alzheimer's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CASP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CASP4 (P496623 ENSP000003885664) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    ENSG00000228321P013753I2D: score=1 
    ENSG00000228849P013753I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS7797510
    GO:0006915apoptotic process TAS7743998
    GO:0042981regulation of apoptotic process IEA--
    GO:0050727regulation of inflammatory response IBA--
    GO:0097194execution phase of apoptosis IBA--

    CASP4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for CASP4 (see all 12)     About this table
    CompoundAction CAS #
    Apoptosis InhibitorCell-permeable caspase-3 inhibitor[54135-60-3]
    Caspase-3/7 Inhibitor ICell-permeable and irreversible inhibitor of caspase-3 and -7[220509-74-0]
    CisplatinChemotherapy agent, induces apoptosis[15663-27-1]
    PAC-1Procaspase-activating compound, activates procaspase-3 and converts it to caspase-3[315183-21-2]
    Q-VD-OphCell-permeable, irreversible pan-caspase inhibitor[1135695-98-5]
    VX-765 Novel Caspase-1 inhibitor[273404-37-8]
    Z-DEVD-FMKCell-permeable, and irreversible caspase-3 inhibitor[210344-95-9]
    Z-DQMD-FMKCell-permeable caspase-3 inhibitor--
    Z-FA-FMKEffector caspases 2, 3, 5, and 7--
    Z-VAD-FMKCell-permeable, irreversible pan-caspase inhibitor[187389-52-2]

    Compounds for CASP4 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AZ 10417808Selective non-peptide caspase-3 inhibitor[331645-84-2]
    Z-DQMD-FMKCaspase-3 inhibitor--
    CisplatinPotent pro-apoptotic anticancer agent; activates caspase-3[15663-27-1]
    Z-DEVD-FMK Cell-permeable, irreversible caspase-3 inhibitor --
    Z-VAD-FMK Cell-permeable, irreversible caspase inhibitor [187389-52-2]

    8 Novoseek inferred chemical compound relationships for CASP4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tunicamycin 73.4 3 18029041 (1), 17942905 (1), 19643964 (1)
    bortezomib 47.7 5 16357160 (2), 16891470 (1), 18645004 (1)
    thapsigargin 41.8 3 19276550 (1), 17942905 (1), 19643964 (1)
    cysteine 40.9 2 16465268 (1), 16596996 (1)
    tetrapeptide 31.1 1 10713077 (1)
    calcium 27.4 5 17995926 (1), 19528481 (1), 19894226 (1), 17431104 (1) (see all 5)
    oxygen 7.59 2 19138722 (1)
    indomethacin 0 1 16184425 (1)



    CASP4 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CASP4 gene (3 alternative transcripts): 
    NM_001225.3  NM_033306.2  NM_033307.2  

    Unigene Cluster for CASP4:

    Caspase 4, apoptosis-related cysteine peptidase
    Hs.138378  [show with all ESTs]
    Unigene Representative Sequence: AL050391
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525116 ENST00000444739(uc001pid.1) ENST00000393150(uc001pib.1)
    ENST00000533252 ENST00000529565(uc010rux.1) ENST00000530309 ENST00000533730(uc009yxg.1)
    ENST00000534356 ENST00000529183 ENST00000524843 ENST00000531333 ENST00000417440
    ENST00000531546(uc010ruy.1)

    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): CASP4 (NM_033306)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP4
    Primer
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    OriGene qPCR primer pairs and template standards for CASP4
    OriGene qSTAR qPCR primer pairs in human, mouse for CASP4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASP4
      QuantiTect SYBR Green Assays in human, mouse, rat CASP4
      QuantiFast Probe-based Assays in human, mouse, rat CASP4

    Additional mRNA sequence: 

    AK057094.1 AK225751.1 AK296081.1 AK304222.1 AL050391.1 BC008060.2 BC017839.1 U25804.1 
    U28014.1 U28976.1 U28977.1 U28978.1 U28979.1 Z48810.1 

    12 DOTS entries:

    DT.448001  DT.118117  DT.100674486  DT.91759546  DT.100674487  DT.87010730  DT.100674492  DT.91746508 
    DT.95320649  DT.97846147  DT.99965630  DT.423045 

    Selected AceView cDNA sequences (see all 305):

    BM696793 CB159078 CR613155 BE503626 CB136090 BM456310 AA463732 BQ021943 
    BE467978 BQ051905 CR601555 BU152578 AA297322 BX359602 U28976 BG035170 
    NM_001225 U28979 CB132522 AI572301 BQ672285 BI916547 NM_033306 CB135471 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CASP4    About this scheme

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


    ECgene alternative splicing isoforms for CASP4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CASP4 expression in normal human tissues (normalized intensities)      CASP4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAAGATATT
    CASP4 Expression
    About this image


    CASP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             S-shaped Body Cells S-shaped Body
             S-shaped Body
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Fibroblasts Myocardium
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
    CASP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASP4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.138378

    UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662
    Tissue specificity: Widely expressed, with highest levels in spleen and lung. Moderate expression in heart and
    liver, low expression in skeletal muscle, kidney and testis. Not found in the brain

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CASP4 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casp41 , 5 caspase 4, apoptosis-related cysteine peptidase1, 5 69.26(n)1
    60.32(a)1
      9 (2.46 cM)5
    123631  NM_007609.21  NP_031635.21 
     53088285 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    42(a)
    1 → many
    19(705896-708766) ENSGALG00000001049
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    50(a)
    1 → many
    GL344618.1(3490-9499)
    zebrafish
    (Danio rerio)
    Actinopterygii caspbl6
    caspase b, like
    28(a)
    many ↔ many
    1(58792132-58801668) ENSDARG00000094433
    fruit fly
    (Drosophila melanogaster)
    Insecta Nc6
    Dredd6
    Death related ced-3/Nedd2-like protein
    17(a)
    12(a)
    many ↔ many
    many ↔ many
    3L(9961579-9964102)
    X(527553-529760)
    worm
    (Caenorhabditis elegans)
    Secernentea csp-26
    Protein CSP-2 (csp-2) mRNA, complete cds
    9(a)
    many ↔ many
    IV(6307739-6315719) WBGene00000820


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CASP4 gene
    CASP162  CASP62  CASP82  CASP122  CASP92  CASP72  CASP32  CASP22  
    CASP142  CASP12  CASP52  CASP102  
    6 SIMAP similar genes for CASP4 using alignment to 3 protein entries:     CASP4_HUMAN (see all proteins):
    DKFZp586A181    mih1/Tx    LOC643733    CASP5    CASP1    CASP12

    CASP4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CASP4
    PGOHUM00000257860


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CASP4 (see all 722)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs344365141,2
    C,F--104813100(+) CAGATA/GGTTCC 2 -- ds500114Minor allele frequency- G:0.20NS NA WA CSA EA 556
    rs1434417331,2
    C--104813108(+) TCCACA/CTTTTA 2 -- ds50010--------
    rs1811473411,2
    C--104813359(+) TTTTTG/TGGGGC 2 -- ds50010--------
    rs6607181,2
    C,F,A--104813373(-) TCCCAC/TCAAAA 2 -- ds500113Minor allele frequency- T:0.08NA WA CSA EA 376
    rs1122406261,2
    F--104813420(+) GTTTTC/TGGCAA 2 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs171033991,2
    C,F,H--104813581(+) ATTAGA/CAAAAG 2 -- ds500120Minor allele frequency- C:0.08NA NS EA WA 1624
    rs563806261,2
    C,F--104813596(-) ACAAAC/TGAACT 2 -- ut316Minor allele frequency- T:0.04NS WA 288
    rs5475841,2
    C,F,O,A,H--104813887(-) AAGAAA/GTAATA 2 -- int1 trp320Minor allele frequency- G:0.35MN NS EA NA WA 1154
    rs18010041,2
    F--104813925(+) GTCTCG/ACTCAG 2 -- int11Minor allele frequency- A:0.01NA 120
    rs1480701951,2
    --104813974(+) ACCACA/GCGATC 2 -- int10--------

    HapMap Linkage Disequilibrium report for CASP4 (104813593 - 104840163 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CASP4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469CNV Insertion18451855
    nsv832255CNV Loss17160897
    nsv898356CNV Loss21882294
    nsv468862CNV Gain19166990
    esv2750978CNV Gain17911159
    nsv898355CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602664    OMIM disorders: --

    Selected diseases for CASP4 (see all 50):    About MalaCards
    nephropathic cystinosis    cowpox    cystinosis    thoracic aortic aneurysm
    myocardial infarction    gastric ulcer    gastrointestinal stromal tumor    chronic myeloid leukemia
    alzheimer's disease    aortic aneurysm    synovitis    non-hodgkin lymphoma
    oral cancer    hodgkin's lymphoma    malignant glioma    choriocarcinoma
    lateral sclerosis    amyotrophic lateral sclerosis    liver disease    multiple myeloma


    CASP4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CASP4 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cowpox 49.2 1 16465268 (1)
    cancer 25.2 3 19106640 (1), 18430458 (1)
    alzheimers disease 17.7 3 17942194 (1), 15123740 (1), 19931333 (1)
    melanoma 16.8 5 18842681 (1), 16596996 (1), 18245485 (1), 17942905 (1)
    tumors 15.5 7 17431104 (2), 18635549 (1), 16380976 (1), 15469074 (1)
    necrosis 14 1 18635549 (1)
    cancer lung 2.27 1 17344942 (1)
    carcinoma squamous cell 0 8 15017724 (5), 15469074 (3)
    inflammation 0 1 19643964 (1)
    liver diseases 0 1 17559149 (1)

    Genetic Association Database (GAD): CASP4
    Human Genome Epidemiology (HuGE) Navigator: CASP4 (9 documents)

    Export disorders for CASP4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CASP4 gene, integrated from 10 sources (see all 150):
    (articles sorted by number of sources associating them with CASP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of ICH-2, a novel member of the interleukin-1 beta-converting enzyme family of cysteine proteases. (PubMed id 7797510)1, 2, 3 Kamens J.... Ghayur T. (J. Biol. Chem. 1995)
    2. Involvement of caspase-4 in endoplasmic reticulum stress-induced apoptosis and Abeta-induced cell death. (PubMed id 15123740)1, 2, 9 Hitomi J....Tohyama M. (J. Cell Biol. 2004)
    3. Molecular cloning and pro-apoptotic activity of ICErelII and ICErelIII, members of the ICE/CED-3 family of cysteine proteases. (PubMed id 7797592)1, 2, 9 Munday N.A.... Nicholson D.W. (J. Biol. Chem. 1995)
    4. Mutational analysis of CASP1, 2, 3, 4, 5, 6, 7, 8, 9, 10, and 14 genes in gastrointestinal stromal tumors. (PubMed id 19269008)1, 4, 9 Kim Y.R....Lee S.H. (Hum. Pathol. 2009)
    5. Transmembrane Protein 214 (TMEM214) mediates endoplasmic reticulum stress-induced caspase 4 enzyme activation and apoptosis. (PubMed id 23661706)1, 2 Li C....Shu H.B. (J. Biol. Chem. 2013)
    6. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    7. Mutational analysis of caspase genes in prostate carcinomas. (PubMed id 20402676)1, 4 Kim M.S....Lee S.H. (APMIS 2010)
    8. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (amp 2010)
    9. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    10. Genetic variation in caspase genes and risk of non-Hodgkin lymphoma: a pooled analysis of 3 population-based case-control studies. (PubMed id 19414860)1, 4 Lan Q....Wang S.S. (Blood 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 837 HGNC: 1505 AceView: CASP4 Ensembl:ENSG00000196954 euGenes: HUgn837
    ECgene: CASP4 H-InvDB: CASP4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CASP4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CASP4 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/casp4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CASP4 gene:
    Search GeneIP for patents involving CASP4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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