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CASP6 Gene

protein-coding   GIFtS: 70
GCID: GC04M110609

Caspase 6, Apoptosis-Related Cysteine Peptidase

(Previous names: caspase 6, apoptosis-related cysteine protease)
  See CASP6-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 6, Apoptosis-Related Cysteine Peptidase1 2     EC 3.4.22.593 8
MCH22 3 5     caspase-62
Caspase 6, Apoptosis-Related Cysteine Protease1 2     CASP-63
Apoptotic Protease Mch-22 3     EC 3.4.228

External Ids:    HGNC: 15071   Entrez Gene: 8392   Ensembl: ENSG000001387947   OMIM: 6015325   UniProtKB: P552123   

Export aliases for CASP6 gene to outside databases

Previous GC identifers: GC04M111026 GC04M110880 GC04M111068 GC04M110967 GC04M110829 GC04M106342


(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 CASP6 Gene:
This gene encodes a protein which 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 which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and
small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought
to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results
in two transcript variants that encode different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for CASP6 Gene:
CASP6 (caspase 6, apoptosis-related cysteine peptidase) is a protein-coding gene. Diseases associated with CASP6 include thoracic cancer, and myocardial infarction. GO annotations related to this gene include cysteine-type endopeptidase activity and identical protein binding. An important paralog of this gene is CASP16.

UniProtKB/Swiss-Prot: CASP6_HUMAN, P55212
Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves
poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death

summary for CASP6 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.

Gene Wiki entry for CASP6 (Caspase 6) Gene


(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 at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CASP6 gene promoter:
         HOXA9B   HOXA9   PPAR-alpha   AML1a   FOXF2   Meis-1b   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASP6 promoter sequence
   Search Chromatin IP Primers for CASP6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASP6


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

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

CASP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP6 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M110609:  view genomic region     (about GC identifiers)

Start:
110,609,785 bp from pter      End:
110,624,739 bp from pter
Size:
14,955 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CASP6_HUMAN, P55212 (See protein sequence)
Recommended Name: Caspase-6 precursor  
Size: 293 amino acids; 33310 Da
Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 18 kDa
(p18) and a 11 kDa (p11) subunit. Interacts with BIRC6/bruce
Selected PDB 3D structures from and Proteopedia for CASP6 (see all 24):
1MI9 (3D)        2WDP (3D)        3K7E (3D)        3NKF (3D)        3NR2 (3D)        3OD5 (3D)    
Secondary accessions: Q9BQE7
Alternative splicing: 2 isoforms:  P55212-1   P55212-2   

Explore the universe of human proteins at neXtProt for CASP6: NX_P55212

Explore proteomics data for CASP6 at MOPED

Post-translational modifications: 

  • Cleavages by caspase-3, caspase-8 or -10 generate the two active subunits1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CASP6 (P55212) (see all 7)
     ALIFNHE  IIQACRG  LVGKPKIF  CVFLSHGEGNH 


    See CASP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001217.2  NP_116787.1  

    ENSEMBL proteins: 
     ENSP00000285333   ENSP00000265164   ENSP00000427669   ENSP00000424080  
    Reactome Protein details: P55212

    CASP6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CASP6

     
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    antibodies-online proteins for CASP6 (17 products) 

     
    antibodies-online peptides for CASP6

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    CASP6 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CASP6
    Cloud-Clone Corp. CLIAs for CASP6
    Search eBioscience for ELISAs for CASP6 
    antibodies-online kits for CASP6 (32 products) 


    (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 6
    Caspases

    5 InterPro protein domains:
     IPR001309 Pept_C14_ICE_p20
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14A_p45_core
     IPR011600 Pept_C14_caspase
     IPR016129 Pept_C14_ICE_p20_AS

    Graphical View of Domain Structure for InterPro Entry P55212

    ProtoNet protein and cluster: P55212

    2 Blocks protein domains:
    IPB001309 Caspase-1
    IPB002398 Interleukin-1B converting enzyme signature


    UniProtKB/Swiss-Prot: CASP6_HUMAN, P55212
    Similarity: Belongs to the peptidase C14A family


    Find genes that share domains with CASP6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CASP6_HUMAN, P55212
    Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves
    poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death
    Catalytic activity: Strict requirement for Asp at position P1 and has a preferred cleavage sequence of
    Val-Glu-His-Asp- -
    Enzyme regulation: Activation is suppressed by phosphorylation at Ser-257

         Genatlas biochemistry entry for CASP6:
    caspase 6,effector,cysteine containing aspartate-specific protease,CASP3 subfamily,with two isoforms alpha and
    beta,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic
    stimuli,promoting apoptosis

         Enzyme Numbers (IUBMB): EC 3.4.22.591 2 EC 3.4.222

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity TAS--
    GO:0005515protein binding IPI12888622
    GO:0008234cysteine-type peptidase activity TAS7796396
    GO:0042802identical protein binding IPI--
         
    Find genes that share ontologies with CASP6           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Casp6):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  nervous system 
     no phenotypic analysis  vision/eye 

    Find genes that share phenotypes with CASP6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CASP6: Casp6tm1.2Xen Casp6tm1Flv

       genOway: Develop your customized and physiologically relevant rodent model for CASP6

    miRNA
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    hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidCASP6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CASP6

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    OriGene ORF clones in mouse, rat for CASP6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CASP6 (NM_032992)
    Sino Biological Human cDNA Clone for CASP6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP6
    Addgene plasmids for CASP6 

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    eBioscience FlowRNA Probe Sets ( VA1-12316) for CASP6 


    (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
    CASP6_HUMAN, P55212: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus4
    mitochondrion2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    Find genes that share ontologies with CASP6           About GenesLikeMe


    (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 CASP6 About   (see all 32)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1TWEAK Pathway
    TWEAK Pathway0.87
    GITR Pathway0.46
    DR3 Signaling0.87
    HIV-1 Nef- Negative effector of Fas and TNF-alpha0.46
    TNFR1 Pathway0.56
    Apoptotic Pathways Triggered By HIV10.42
    TNF Signaling0.55
    Apoptosis Modulation by HSP700.35
    2Apoptosis and survival Caspase cascade
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    Apoptosis and survival FAS signaling cascades0.44
    Breakdown of the nuclear lamina0.00
    FAS pathway and Stress induction of HSP regulation0.44
    3p53 Signaling
    p53 Signaling0.38
    p53 Pathway0.38
    4Apoptosis (KEGG)
    14-3-3 Induced Apoptosis0.37
    Apoptosis0.37
    5Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Caspase-mediated cleavage of cytoskeletal proteins0.00
    Apoptotic execution phase0.74


    Find genes that share SuperPaths with CASP6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CASP6
        Apoptosis Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CASP6 (see all 24)
        Caspase Cascade
    TWEAK Pathway
    14-3-3 Induced Apoptosis
    DHA Signaling
    TRAF Pathway

    1 Cell Signaling Technology (CST) Pathway for CASP6
        Apoptosis and Autophagy

    2 Tocris Bioscience Pathways for CASP6
        Apoptosis Pathway
    VEGF Pathway

    3 GeneGo (Thomson Reuters) Pathways for CASP6
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades
    Apoptosis and survival TNFR1 signaling pathway

    Selected BioSystems Pathways for CASP6 (see all 11)
        MAPK signaling pathway
    Apoptosis
    Apoptosis Modulation and Signaling
    FAS pathway and Stress induction of HSP regulation
    Parkinsons Disease Pathway

    3 Sino Biological Pathways for CASP6
        EGFR Signaling Pathway
    p53 Pathway
    Death Receptor Signaling

    3 Reactome Pathways for CASP6
        Breakdown of the nuclear lamina
    Apoptotic cleavage of cellular proteins
    Caspase-mediated cleavage of cytoskeletal proteins


    1 Kegg Pathway  (Kegg details for CASP6):
        Apoptosis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASP6: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CASP6

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

    Selected Interacting proteins for CASP6 (P552121, 2, 3 ENSP000002651644) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUCB1Q028182, 3, ENSP000002632734MINT-6175501 I2D: score=1 STRING: ENSP00000263273
    CHD3Q128732, 3MINT-63876 I2D: score=5 
    MAPK6Q166592, 3MINT-8260845 I2D: score=2 
    PIN1Q135262, 3MINT-8266392 I2D: score=2 
    TAB1Q157502, 3MINT-8260042 I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA12888622
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0030855epithelial cell differentiation IEP--

    Find genes that share ontologies with CASP6           About GenesLikeMe



    (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
       Enzo Life Sciences drugs & compounds for CASP6
    Selected ApexBio Compounds for CASP6 (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 CASP6 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]

    1 IUPHAR Ligand for CASP6 (Caspase 6)    About this table
    LigandTypeActionAffinityPubmed IDs
    Z-VEID-FMK
    InhibitorInhibition11953316

    Selected Novoseek inferred chemical compound relationships for CASP6 gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    etoposide 48.5 5 17879947 (1), 19549763 (1), 11181042 (1)
    cysteine 42.8 4 7796396 (2), 10490026 (1), 10655504 (1)
    3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide 34.2 1 15927891 (1)
    camptothecin 31.1 2 12521296 (1), 10942603 (1)
    cycloheximide 28.1 1 16135563 (1)
    zoledronic acid 21.7 1 17070308 (1)
    deoxycholic acid 19.8 3 15015762 (2)
    cisplatin 16.1 14 18064040 (6), 19276256 (1)
    paclitaxel 12.4 3 10832593 (2)
    oxygen 8.12 1 14598320 (1)



    Find genes that share compounds with CASP6           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CASP6 gene (2 alternative transcripts): 
    NM_001226.3  NM_032992.2  

    Unigene Cluster for CASP6:

    Caspase 6, apoptosis-related cysteine peptidase
    Hs.654616  [show with all ESTs]
    Unigene Representative Sequence: NM_001226
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352981(uc003hzo.1) ENST00000265164(uc003hzn.1) ENST00000507550
    ENST00000505117 ENST00000510324 ENST00000508203 ENST00000503684 ENST00000505486

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    SwitchGear 3'UTR luciferase reporter plasmidCASP6 3' UTR sequence
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    Additional mRNA sequence: 

    BC000305.2 BC004460.1 U20536.1 U20537.1 

    9 DOTS entries:

    DT.453087  DT.100772649  DT.121269705  DT.100783987  DT.100783993  DT.100692964  DT.99990009  DT.95220751 
    DT.95296153 

    Selected AceView cDNA sequences (see all 436):

    CR610634 BP344820 BC004460 BF061913 BM675240 BF916645 BQ271785 AF306567 
    BX109425 F09005 AA234561 BX379666 BM790222 BG676262 CB163750 AA894657 
    AI218487 BX089479 CR591422 BP344737 AA662174 AY359024 AI032926 AA234318 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CASP6 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
    SP1:                          -                                                               
    SP2:                          -           -                                                   
    SP3:                          -                       -                                       
    SP4:                          -                                                               
    SP5:                                                                                          


    ECgene alternative splicing isoforms for CASP6

    (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)
    About This Section

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    CASP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAAAGGGT
    CASP6 Expression
    About this image


    CASP6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Colon (Gastrointestinal Tract)
    CASP6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASP6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654616
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASP6: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CASP6
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP6

    (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)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for CASP6 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casp61 , 5 caspase 61, 5 84.43(n)1
    90.88(a)1
      3 (59.50 cM)5
    123681  NM_009811.31  NP_033941.31 
     1299014255 
    chicken
    (Gallus gallus)
    Aves CASP61 caspase 6, apoptosis-related cysteine peptidase 72.88(n)
    72.4(a)
      395477  NM_204726.1  NP_990057.1 
    lizard
    (Anolis carolinensis)
    Reptilia CASP66
    caspase 6, apoptosis-related cysteine peptidase
    68(a)
    1 ↔ 1
    5(144451517-144466776)
    African clawed frog
    (Xenopus laevis)
    Amphibia xCaspase-62 caspase-6 75.84(n)    AB038169.1 
    zebrafish
    (Danio rerio)
    Actinopterygii casp61 caspase 6, apoptosis-related cysteine peptidase 67.04(n)
    70.11(a)
      552927  NM_001020497.1  NP_001018333.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ice3 apoptosis effector caspase 40(a)
    (best of 3)
      99C1   --


    ENSEMBL Gene Tree for CASP6 (if available)
    TreeFam Gene Tree for CASP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CASP6 gene
    CASP162  CASP82  CASP122  CASP92  CASP72  CASP32  CASP22  CASP142  
    CASP12  CASP52  CASP102  CASP42  
    4 SIMAP similar genes for CASP6 using alignment to 3 protein entries:     CASP6_HUMAN (see all proteins):
    CASP3    CASP7    DKFZp686N1815    CASP8

    Find genes that share paralogs with CASP6           About GenesLikeMe



    (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 CASP6 (see all 418)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1807741811,2
    --110404279(+) GGTATC/TGAAGC 2 -- ds50010--------
    rs1417349271,2
    --110404294(+) ACAGTC/TAACTT 2 -- ds50010--------
    rs1146706821,2
    F--110404358(+) ATATTA/GATAAG 2 -- ds50011Minor allele frequency- G:0.01NA 120
    rs1850609091,2
    --110404396(+) ATTCTA/GTTAAT 2 -- ds50010--------
    rs32121531,2
    C,F,O,A,H--110404410(-) TCACAC/TACAAT 2 -- ds500120Minor allele frequency- T:0.09NS EA NA 2542
    rs1400267361,2
    C--110404422(+) GGGTC-/TGATGATG 2 -- cds10--------
    rs50306031,2
    F--110404428(-) AACAG-/TCATCATC 2 -- cds11Minor allele frequency- TCA:0.02NS 168
    rs1895315331,2
    --110404519(+) TATGTC/TTTCTA 2 -- ds50010--------
    rs31823251,2
    C,F,A--110404720(-) TATTCA/GAAATT 2 -- ut3117Minor allele frequency- G:0.37NS MN NA WA CSA EA 895
    rs1486855701,2
    C--110404776(+) AACAT-/CAAA  
            
    CAAAC
    2 -- ut310--------

    HapMap Linkage Disequilibrium report for CASP6 (110609785 - 110624739 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CASP6: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CASP6
    DNA2.0 Custom Variant and Variant Library Synthesis for CASP6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601532    OMIM disorders: --

    3 diseases for CASP6:    
    About MalaCards
    thoracic cancer    myocardial infarction    huntington's disease

    1 disease from the University of Copenhagen DISEASES database for CASP6:
    Huntington's disease

    Find genes that share disorders with CASP6           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CASP6 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuropil threads 61.5 12 15277226 (2), 18487604 (2), 17392160 (1), 19915487 (1)
    neurofibrillary tangles 38.6 13 15277226 (2), 18487604 (2), 17392160 (1), 19915487 (1) (see all 5)
    leukemia 37.1 1 18392682 (1)
    huntington disease 35.8 1 19326941 (1)
    tumors 32.3 21 15523899 (2), 20437871 (2), 15210759 (1), 9171342 (1) (see all 13)
    alzheimers disease 31.5 32 15277226 (6), 18487604 (4), 17392160 (2), 19915487 (2) (see all 10)
    necrosis 30.8 6 19017654 (1), 12815280 (1), 16977583 (1), 15298760 (1) (see all 6)
    breast cancer 27.9 4 12815280 (1), 16977583 (1), 10832593 (1), 11438643 (1)
    cancer 25.2 6 16948818 (2), 16925970 (1), 18497562 (1)
    senile plaques 21.1 12 15277226 (2), 18487604 (2), 17392160 (1), 19915487 (1)

    Genetic Association Database (GAD): CASP6
    Human Genome Epidemiology (HuGE) Navigator: CASP6 (10 documents)

    Export disorders for CASP6 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 CASP6 gene, integrated from 10 sources (see all 322):
    (articles sorted by number of sources associating them with CASP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mch2, a new member of the apoptotic Ced-3/Ice cysteine protease gene family. (PubMed id 7796396)1, 2, 3, 9 Fernandes-Alnemri T.... Alnemri E.S. (Cancer Res. 1995)
    2. Regulation of caspase-6 and FLIP by the AMPK family member ARK5. (PubMed id 15273717)1, 2, 9 Suzuki A.... Esumi H. (Oncogene 2004)
    3. Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and Ich-1, involved in cellular apoptosis. (PubMed id 8780721)1, 3, 9 Tiso N....Danieli G.A. (Biochem. Biophys. Res. Commun. 1996)
    4. TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin. (PubMed id 19052714)1, 4, 9 Kim J.G....Yu W. (Cancer Chemother. Pharmacol. 2009)
    5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    6. Polymorphisms in the caspase genes and the risk of lung cancer. (PubMed id 20661084)1, 4 Lee S.Y....Park J.Y. (J Thorac Oncol 2010)
    7. 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)
    8. Mutational analysis of caspase genes in prostate carcinomas. (PubMed id 20402676)1, 4 Kim M.S....Lee S.H. (APMIS 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. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (Br. J. Haematol. 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: 839 HGNC: 1507 AceView: IFandCASP6andPLA2G12A Ensembl:ENSG00000138794 euGenes: HUgn839
    ECgene: CASP6 Kegg: 839 H-InvDB: CASP6

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CASP6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CASP6 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/casp6/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CASP6 gene:
    Search GeneIP for patents involving CASP6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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