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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CASP6 Gene

protein-coding   GIFtS: 72
GCID: GC04M110609

Caspase 6, Apoptosis-Related Cysteine Peptidase

(Previous names: caspase 6, apoptosis-related cysteine protease)
Microbiology & Infectious 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are DR3 Signaling and Apoptosis and survival FAS signaling cascades. GO annotations related to this gene include cysteine-type endopeptidase activity and cysteine-type peptidase activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CASP6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm
6/16 PDB 3D structures from and Proteopedia for CASP6 (see all 16):
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:

  • UniProtKB: Cleavages by caspase-3, caspase-8 or -10 generate the two active subunits
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55212

  • 4/7 DME Specific Peptides for CASP6 (P55212) (see all 7)
     ALIFNHE  IIQACRG  LVGKPKIF  CVFLSHGEGNH 

    CASP6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CASP6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001217.2  NP_116787.1  

    ENSEMBL proteins: 
     ENSP00000285333   ENSP00000265164   ENSP00000427669   ENSP00000424080  
    Reactome Protein details: P55212
    Human Recombinant Protein Products for CASP6: 
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    Novus Biologicals CASP6 Proteins
    Novus Biologicals CASP6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASP6 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    CASP6 for ontologies           About GeneDecksing



    CASP6 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CASP6
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    Abcam antibodies for CASP6
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    ThermoFisher Antibody for CASP6
    LSBio Antibodies in human, mouse, rat for CASP6 

    Assay Products for CASP6: 
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    GenScript CASP6-Activity-based Protease Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CASP6 
    Cloud-Clone Corp. CLIAs for CASP6


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Caspase 6 
    Caspases

    5/7 InterPro protein domains (see all 7):
     IPR001309 Pept_C14_ICE_p20
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14_p45_core
     IPR011600 Pept_C14_cat
     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


    CASP6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    CASP6 for ontologies           About GeneDecksing


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

    CASP6 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CASP6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CASP6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASP6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASP6 

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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate CASP6:
    hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidCASP6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for CASP6
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    Gene Editing
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    Sirion Biotech Validated adenovirus to knockdown CASP6 in human, mouse 
                         Customized adenovirus for overexpression of CASP6

    Clone
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of CASP6 
                         Customized lentivirus expression plasmids for stable overexpression of CASP6 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP6


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CASP6 About   (see all 33)                                                                                              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 FAS signaling cascades0.44
    FAS pathway and Stress induction of HSP regulation0.44
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    3p53 Pathway
    p53 Signaling0.38
    p53 Pathway0.38
    414-3-3 Induced Apoptosis
    Apoptosis0.37
    14-3-3 Induced Apoptosis0.37
    5Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.73
    Caspase-mediated cleavage of cytoskeletal proteins0.32
    Apoptotic execution phase0.73

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for CASP6
        Selected targets of Oct-3/4
    Apoptosis and survival TNFR1 signaling pathway
    Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades
    Selected targets of p53

    1 R&D Systems Pathway for CASP6
        Apoptosis Signaling Pathways

    5/24 Downloadable PowerPoint Slides of QIAGEN 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

    5/11 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

    5        Reactome Pathways for CASP6
        Breakdown of the nuclear lamina
    Apoptotic execution phase
    Apoptotic cleavage of cellular proteins
    Caspase-mediated cleavage of cytoskeletal proteins
    Apoptosis


    1         Kegg Pathway  (Kegg details for CASP6):
        Apoptosis


    CASP6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASP6

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

    5/58 Interacting proteins for CASP6 (P552121, 2, 3 ENSP000002651644) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    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): 3 biological process terms (GO ID links to tree view):    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--

    CASP6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CASP6 for compounds           About GeneDecksing

    EMD Millipore small molecules for CASP6:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for CASP6

    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

    10/20 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)

    Search CenterWatch for drugs/clinical trials and news about CASP6

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP6
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASP6

    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 

    24/436 AceView cDNA sequences (see all 436):

    BM787437 BM312456 AA235373 BG676262 BM790222 AU280336 F11345 AA205188 
    CR621106 AI522107 BE764579 AI218487 BP344737 CA951162 AW589944 BX444550 
    BF219751 AA649828 AI366754 CB163750 CR610634 BE045840 BU618923 AA234561 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CASP6 expression in normal human tissues (normalized intensities)      CASP6 embryonic expression: see
    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 
     5/15 selected tissues (see all 15) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
             colonic mucosal (ibs)   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             small intestine   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             brain/midbrain   
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
             stomach, upper ; glandular cells   

    See CASP6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CASP6

    SOURCE GeneReport for Unigene cluster: Hs.654616
        SABiosciences Expression via Pathway-Focused PCR Arrays including CASP6: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Cell Death PathwayFinder in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CASP6 gene from 5/16 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 84.68(n)1
    91.54(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 72.76(n)
    72.4(a)
      395477  NM_204726.1  NP_990057.1 
    lizard
    (Anolis carolinensis)
    Reptilia CASP66
    Uncharacterized protein
    67(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 66.91(n)
    69.49(a)
      552927  NM_001020497.1  NP_001018333.1 


    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)
    About This Section
    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

    CASP6 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/418 SNPs in CASP6 are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601532    OMIM disorders: --

    20/37 diseases for CASP6 (see all 37):    About MalaCards
    thoracic cancer    myocardial infarction    gastroenteritis    huntington's disease
    temporal lobe epilepsy    gastrointestinal stromal tumor    alzheimer's disease    keloids
    non-small cell lung carcinoma    alcohol dependence    chondrosarcoma    colon cancer
    non-hodgkin lymphoma    esophageal cancer    oral cancer    gastric cancer
    hodgkin's lymphoma    alcoholism    retinoblastoma    colorectal cancer

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

    CASP6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/23 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)
    About This Section

    PubMed articles for CASP6 gene, integrated from 9 sources (see all 320):
    (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. (1995)
    2. Regulation of caspase-6 and FLIP by the AMPK family member ARK5. (PubMed id 15273717)1, 2, 9 Suzuki A.... Esumi H. (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. (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. (2008)
    5. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    6. Polymorphisms in the caspase genes and the risk of lu ng cancer. (PubMed id 20661084)1, 4 Lee S.Y....Park J.Y. (2010)
    7. Germline variation in apoptosis pathway genes and ris k of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (2010)
    8. Mutational analysis of caspase genes in prostate carc inomas. (PubMed id 20402676)1, 4 Kim M.S....Lee S.H. (2010)
    9. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (2009)
    10. Common genetic variants in candidate genes and risk o f familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 839 HGNC: 1507 AceView: IFandCASP6andPLA2G12A Ensembl:ENSG00000138794 euGenes: HUgn839
    ECgene: CASP6 Kegg: 839 H-InvDB: CASP6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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