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CASP8 Gene

protein-coding   GIFtS: 74

GC02P201807
caspase 8, apoptosis-related cysteine peptidase
(Previous names: caspase 8, apoptosis-related cysteine protease )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for CASP8

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
ALPS2B 2, 5
CAP4 2, 3
CASP-8 3
Casp-8 1, 2
EC 3.4.22.61 3
FLICE 1, 2, 3
FLJ17672 2
MACH 1, 2, 3
MCH5 1, 2, 3, 5
MGC78473 2
OTTHUMP00000163718 2
OTTHUMP00000163719 2
OTTHUMP00000163720 2
Descriptions
Apoptotic cysteine protease 3
Apoptotic protease Mch-5 3
FADD-homologous ICE/CED-3-like protease 2, 3
FADD-like ICE 3
ICE-like apoptotic protease 5 3
MACH-alpha-1/2/3 protein 2
MACH-beta-1/2/3/4 protein 2
MORT1-associated CED-3 homolog 3
caspase 8 2
caspase 8, apoptosis-related cysteine peptidase 2
caspase 8, apoptosis-related cysteine protease 1, 2
External Ids
HGNC: 15091
Entrez Gene: 8412
UniProtKB: Q147903
Ensembl: ENSG000000640127
Search outside databases for aliases for CASP8 gene

Previous GC identifers: GC02P200315 GC02P200822 GC02P202062 GC02P202300 GC02P201923

Summaries
for CASP8

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for CASP8:
This gene encodes 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, a large protease subunit, and a 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 protein is involved in the programmed cell death induced by Fas and various apoptotic
stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may
interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of
the affected brain region from Huntington disease patients but not in those from normal controls,
which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript
variants encoding different isoforms have been described, although not all variants have had their
full-length sequences determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790
Function: Most upstream protease of the activation cascade of caspases responsible for the
TNFRSF6/FAS mediated and TNFRSF1A induced cell death. Binding to the adapter molecule FADD
recruits it to either receptor. The resulting aggregate called death-inducing signaling complex
(DISC) performs CASP8 proteolytic activation. The active dimeric enzyme is then liberated from the
DISC and free to activate downstream apoptotic proteases. Proteolytic fragments of the N-terminal
propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC. Cleaves and activates
CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10. May participate in the GZMB apoptotic pathways.
Cleaves ADPRT. Hydrolyzes the small-molecule substrate, Ac-Asp-Glu-Val-Asp- -AMC. Likely target
for the cowpox virus CRMA death inhibitory protein. Isoforms 5, 6, 7 and 8 lack the catalytic site
and may interfere with the pro-apoptotic activity of the complex

Gene Wiki entry for CASP8 (Caspase_8)

Genomic Location
for CASP8

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CASP8 gene  

Entrez Gene cytogenetic band: 2q33-q34   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33-q34

CASP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P201807:     (about GC identifiers)

Start:
 201,806,411 bp from pter
End:
 201,860,679 bp from pter
Size:
 54,269 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  

Proteins
for CASP8

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790 (See protein sequence)
Recommended Name: Caspase-8 precursor  
Size: 479 amino acids; 55391 Da
Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed
by a 18 kDa (p18) and a 10 kDa (p10) subunit. Interacts with FADD, CFLAR and PEA15. Isoform 9
interacts at the endoplasmic reticulum with a complex containing BCAP31, BAP29, BCL2 and/or
BCL2L1. Interacts with TNFAIP8L2 (By similarity)
Subcellular location: Cytoplasm
Sequence caution: Sequence=CAA66858.1; Type=Miscellaneous discrepancy; Sequence=CAA66859.1;
Type=Miscellaneous discrepancy;
PDB structures from and Proteopedia :
1F9E (3D)    1I4E (3D)    1QDU (3D)    1QTN (3D)    2C2Z (3D)    2FUN (3D)    2K7Z (3D)    3H11 (3D)    
Secondary accessions: O14676 Q14791 Q14792 Q14793 Q14794 Q14795 Q14796 Q15780 Q15806 Q53TT5 Q8TDI1
Q8TDI2 Q8TDI3 Q8TDI4 Q8TDI5 Q96T22 Q9C0K4 Q9UQ81
Alternative splicing: 9 isoforms:  Q14790-1   Q14790-2   Q14790-3   Q14790-4   Q14790-5   Q14790-6   Q14790-7   Q14790-8   
Q14790-9   

Post-translational modifications:

  • Generation of the subunits requires association with the death-inducing signaling complex (DISC),
    whereas additional processing is likely due to the autocatalytic activity of the activated
    protease. GZMB and CASP10 can be involved in these processing events1
  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (6 alternative transcripts): 
    NP_001073593.1  NP_001073594.1  NP_001219.2  NP_203519.1  NP_203520.1  NP_203522.1  


    ENSEMBL proteins: 
    ENSP00000351273 ENSP00000264275 ENSP00000307131 ENSP00000376094 ENSP00000264274 ENSP00000325722 
    ENSP00000376092 ENSP00000376091 ENSP00000376089 ENSP00000342442 ENSP00000376088 ENSP00000339583 
    ENSP00000376087 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant CASP8 Protein
    Sigma-Aldrich Proteins for CASP8  
    R&D Systems Recombinant & Natural Proteins for CASP8 (Caspase-8)
    Enzo Life Sciences proteins for CASP8
    Recombinant Proteins from Abcam (Pro Caspase 8, Caspase 8)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005737 cytoplasm IEA--
    GO:0005739 mitochondrion TAS10891503
    GO:0005813 centrosome IDA18029348
    GO:0005829 cytosol EXP8681376 9721089 10894160 12804595 12887920
    About this table

    Antibodies for CASP8: 
    Invitrogen Antibodies for CASP8
    Millipore Mono- and Polyclonal Antibodies for the study of CASP8
    Sigma-Aldrich Antibody Arrays and Antibodies for CASP8
    R&D Systems Antibodies for CASP8 (Caspase-8)
    Cell Signaling Technology (CST) Antibodies for CASP8  (Caspase-8)
    Antibodies from Abcam (Pro Caspase 8, Caspase 8), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (CASP8)
    Novus Biologicals Antibodies for CASP8

    Assays for CASP8: 
    Invitrogen Assays for CASP8
    Millipore Kits and Assays for the Analysis of CASP8
    R&D Systems Peptides & Peptide-based Assays for CASP8 (Caspase-8)         (see all)
    Enzo Life Sciences assays for CASP8

    Protein Domains/
    Families
    for CASP8

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro domains/families (see all 8 ):
     IPR001309 Pept_C14_ICE_p20
     IPR011029 DEATH-like
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14_p45_core
     IPR011600 Pept_C14_cat


       GeneDecks  CASP8 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q14790

    ProtoNet protein and cluster: Q14790

    3 Blocks protein families:
    IPB001309 Caspase-1
    IPB001875 Death effector protein
    IPB002398 Interleukin-1B converting enzyme signature


    UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790
    Domain: Isoform 9 contains a N-terminal extension that is required for interaction with the BCAP31
    complex
    Similarity: Belongs to the peptidase C14A family
    Similarity: Contains 2 DED (death effector) domains

    Gene Function
    for CASP8

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (CASP8)
    Millipore RNAi Products for the Analysis of CASP8 Gene knock-down
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_001228

                  Applied Biosystems Silencer® siRNAs for CASP8

                  Sigma-Aldrich siRNA and siRNA Panels for CASP8  
                         Sigma-Aldrich shRNA Panels and shRNA for CASP8  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for CASP8
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_001080124
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_001080124
                                     untagged cDNA clones in CMV expression vector (see all 6): NM_001080124 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001080125

    UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790
    Function: Most upstream protease of the activation cascade of caspases responsible for the
    TNFRSF6/FAS mediated and TNFRSF1A induced cell death. Binding to the adapter molecule FADD
    recruits it to either receptor. The resulting aggregate called death-inducing signaling complex
    (DISC) performs CASP8 proteolytic activation. The active dimeric enzyme is then liberated from the
    DISC and free to activate downstream apoptotic proteases. Proteolytic fragments of the N-terminal
    propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC. Cleaves and activates
    CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10. May participate in the GZMB apoptotic pathways.
    Cleaves ADPRT. Hydrolyzes the small-molecule substrate, Ac-Asp-Glu-Val-Asp- -AMC. Likely target
    for the cowpox virus CRMA death inhibitory protein. Isoforms 5, 6, 7 and 8 lack the catalytic site
    and may interfere with the pro-apoptotic activity of the complex
    Catalytic activity: Strict requirement for Asp at position P1 and has a preferred cleavage sequence
    of (Leu/Asp/Val)-Glu-Thr-Asp- -(Gly/Ser/Ala)
    Enzyme Number (IUBMB): EC 3.4.22.61 

    Genatlas biochemistry entry for CASP8:
    caspase 8,initiator,cysteine containing aspartate-specific protease,CASP3 subfamily,stored in the
    mitochondrial intermembrane space and released into cytosol after appropriate apoptotic
    stimuli,promoting CD95/APO1/Fas apoptosis,through the cleavage of BID,C elegans CED1 homolog

    14 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Casp8):

    cellularembryogenesisgrowth/sizehematopoietic system
    homeostasis/metabolismimmune systemlethality-prenatal/perinatallife span-post-weaning/agingliver/biliary system
    musclenervous systemrenal/urinary systemrespiratory system

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197 cysteine-type endopeptidase activity TAS8681376
    GO:0008233 peptidase activity IEA--
    GO:0042802 identical protein binding IPI11717445
    About this table

    Pathways & Interactions
    for CASP8

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/7 Invitrogen iPath™ Online BioAtlas - Pathways for CASP8 (see all 7 ) (Maps provided by GeneGo):
     Cytoplasm/mitochondrial transport of proapoptotic proteins Bid, Bmf and Bim
     Regulation of apoptosis by mitochondrial proteins
     Caspases cascade
     Ceramide-dependent NO antiapoptotic action
     Erk Interactions: Inhibition of Erk

       GeneDecks  CASP8 for the pathways selected above  
    About GeneDecksing

    5/6 Millipore Pathways for CASP8 (see all 6 )
     Apoptosis and survival TNFR1 signaling pathway
     Apoptosis and survival Caspase cascade
     Apoptosis and survival FAS signaling cascades
     Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
     Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

       GeneDecks  CASP8 for the pathways selected above  
    About GeneDecksing

    5/13 Sigma-Aldrich "Your Favorite Gene" Pathways for  CASP8  (Your Favorite Gene powered by Ingenuity) (see all 13 ) 
     Cytotoxic T Lymphocyte-mediated Apoptosis of Target Cells
     Type I Diabetes Mellitus Signaling
     Role of PKR in Interferon Induction and Antiviral Response
     Mitochondrial Dysfunction
     Death Receptor Signaling

       GeneDecks  CASP8 for the pathways selected above  
    About GeneDecksing

    5/6 Kegg Pathways  (Kegg details for CASP8) (see all 6 ):
     hsa04115 p53 signaling pathway
     hsa04210 Apoptosis
     hsa04620 Toll-like receptor signaling pathway
     hsa05010 Alzheimer's disease
     hsa05016 Huntington's disease

       GeneDecks  CASP8 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  CASP8 


    5/173 Interacting proteins for CASP8 (ENSP000003512733 Q147901, 2) via UniProtKB, MINT, and/or STRING (see all 173 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCAP31P515721STRING (score=.998) EBI-78060, EBI-77683
    EDA2RQ9HAV51STRING (score=.791) EBI-288343, EBI-526033
    NOL3O609361STRING (score=.94) EBI-78060, EBI-740992
    RIPK1Q135461STRING (score=.999) EBI-78060, EBI-358507
    CASP8AP2Q9UKL32STRING (score=.99) MINT-18006 MINT-4298716 MINT-18007 MINT-4298767 MINT-4298744
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis IDA12888622
    GO:0008624 induction of apoptosis by extracellular signals EXP11048727
    GO:0008633 activation of pro-apoptotic gene products EXP14644197
    GO:0042981 regulation of apoptosis IEA--
    GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB cascade IEP12761501
    About this table

    Drugs & Compounds
    for CASP8

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for CASP8
    Sigma-Aldrich Small Molecules for CASP8:
    Inhibitor

    Compounds for CASP8 available from Tocris Bioscience
    10/45 Novoseek chemical compound relationships for CASP8 gene (see all 45 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    sp 600125 74.89 12 17054427 (2), 15922728 (1), 17568197 (1), 18187175 (1) (see all 10)
    methylseleninic acid 66.98 2 15845651 (1), 11306488 (1)
    dutp 64.70 4 12393527 (1), 19157506 (1), 14982875 (1), 12946439 (1)
    ceramide 62.45 61 12385892 (5), 12374208 (4), 15262979 (4), 12437970 (3) (see all 32)
    noxa 51.64 3 17545623 (1), 15314285 (1), 18708163 (1)
    justicidin a 51.58 1 15905197 (1)
    pd 98,059 49.69 5 16697418 (1), 18187175 (1), 17054996 (1), 16946501 (1)
    2-methoxyestradiol 49.36 5 11505393 (2), 16676399 (1), 16618756 (1), 19020760 (1)
    codeinone 48.13 2 16309196 (1), 12894543 (1)
    oxygen 46.85 38 11709711 (5), 10388534 (3), 10837470 (2), 11822871 (1) (see all 31)
    About this table


    Transcripts
    for CASP8

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (CASP8)
    Millipore RNAi Products for the Analysis of CASP8 Gene knock-down
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_001228

                  Sigma-Aldrich siRNA and siRNA Panels for CASP8  
                         Sigma-Aldrich shRNA Panels and shRNA for CASP8  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001080124  NM_001080125  NM_001228  NM_033355  NM_033356  NM_033358  

    REFSEQ mRNAs for CASP8 gene (6 alternative transcripts): 

    NM_001080124.1   NM_001080125.1   NM_001228.4   NM_033355.3   NM_033356.3   NM_033358.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001080124  NM_001080125  NM_001228  NM_033355  NM_033356  NM_033358  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_001080124
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_001080124
                                     untagged cDNA clones in CMV expression vector (see all 6): NM_001080124 

    Additional cDNA sequence: 

    AB451282.1 AB451414.1 AF009620.1 AF380342.1 AF422926.1 AF422927.1 AF422928.1 AF422929.1 
    AK310630.1 AY429525.1 BC010390.1 BC017031.1 BC028223.2 BC068050.1 EU168332.1 U58143.1 
    U60520.1 X98172.1 X98173.1 X98174.1 X98175.1 X98176.1 X98177.1 X98178.1 

    19 DOTS entries:

    DT.40273678  DT.100823822  DT.95069291  DT.97841482  DT.97841485  DT.100823826  DT.86855731  DT.97798900 
    DT.100028031  DT.102826278  DT.97841484  DT.100823820  DT.92424900  DT.100823827  DT.310446  DT.120965031 
    DT.92336208  DT.92410291  DT.92417477 

    24/135 AceView cDNA sequences (see all 135 ):

    X98175 AF380342 BM846766 BI836593 BQ773953 AW058359 BP873012 BG032662 
    BX395849 AY429525 AI926903 BQ218354 AA169490 AF422926 AF009620 BC017031 
    R07346 U58143 AV759306 BC028223 BV201981 AI743523 X98177 BI857533 

    highest scoring ESTs for CASP8:

    X98172 AA213572 AI660310 AW008665 AW470766 AW780320 BE925423 BG170224 BU622160 CB853212 

    Unigene Cluster for CASP8:

    Caspase 8, apoptosis-related cysteine peptidase
    Hs.599762  [show with all ESTs]
    Unigene Representative Sequence: NM_001080125


    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for CASP8 (see all 16 )

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^
    SP1:                                      -     -     -     -     -     -     -     -     -                                                           -         
    SP2:                          -           -     -     -     -     -     -     -     -     -     -                 -                                             
    SP3:                          -           -     -     -     -     -     -     -     -     -                       -                                   -         
    SP4:                                      -     -     -     -     -     -     -     -     -                       -                                         -   
    SP5:                                                                                                              -                                             

    ExUns: 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d ^ 19a · 19b
    SP1:        -     -                                       
    SP2:        -     -                                       
    SP3:        -     -                                       
    SP4:        -                                             
    SP5:        -     -                                       

    About this scheme

    ECgene alternative splicing isoforms for CASP8

    13 Ensembl transcripts including schematic representations:
    ENST00000358485  ENST00000264275  ENST00000303385  ENST00000392266  ENST00000264274  ENST00000323492  
    ENST00000392264  ENST00000392263  ENST00000392261  ENST00000343290  ENST00000392259  ENST00000339403  
    ENST00000392258  

    Expression
    for CASP8

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CASP8 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CASP8

    1 / 2 / 3

    8 probe-sets matching CASP8 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    33774_at2, 3 U95-A 1 1.00 1.00 0.98 1.35 X98172 1.00 0.90 0.95 1

    		31491_s_at2, 3 U95-A 1 1.00 1.00 0.96 0.65 X98175 0.60 1.00 0.82 1

    		33775_s_at2, 3 U95-A 1 1.00 1.00 0.72 0.52 X98176 0.80 1.00 0.91 1

    		207686_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001228 0.60 1.00 0.82 1

    		213373_s_at2, 3 U133-A 1 1.00 1.00 -- -- BF439983 0.60 1.00 0.82 1

    		207686_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		1553306_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		213373_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  CASP8 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TCTATAATCC

    SOURCE GeneReport for Unigene cluster: Hs.599762

    Expression variation in blood from EXPOLDB for CASP8

    UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790
    Tissue specificity: Isoforms 1, 5 and 7 are expressed in a wide variety of tissues. Highest
    expression in peripheral blood leukocytes, spleen, thymus, and liver. Barely detectable in brain,
    testis, and skeletal muscle

    Orthologs
    for CASP8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for CASP8 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 CASP81   -- caspase 8, apoptosis-related cysteine peptidase 83.12(n)
    78.36(a)    		 488473  XM_853545.1  XP_858638.1 
    chimpanzee
    (Pan troglodytes)    		 CASP81   -- caspase 8, apoptosis-related cysteine peptidase 99.63(n)
    99.63(a)    		 746477  XM_001172193.1  XP_001172193.1 
    cow
    (Bos taurus)    		 CASP81   -- caspase 8, apoptosis-related cysteine peptidase 80(n)
    72.21(a)    		 507481  NM_001045970.1  NP_001039435.1 
    rat
    (Rattus norvegicus)    		 Casp81   -- caspase 8 75.84(n)
    67.8(a)    		 64044  NM_022277.1  NP_071613.1 
    mouse
    (Mus musculus)    		 Casp81, 5 1 (30.10 cM)5
    		 caspase 81, 5 77.02(n)1
    69.57(a)1    		 123701  NM_001080126.11  NP_001073595.11 
     AF0678345  AF0678355  (see all 21)
    About this table        Species with no ortholog for CASP8

    ENSEMBL Gene Tree for CASP8

    Paralogs
    for CASP8

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for CASP8 gene
    CASP102  CASP92  

    SNPs/Variants
    for CASP8

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    		UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790
    Polymorphism: Genetic vaiations in CASP8 are associated with reduced risk of lung cancer
    [MIM:211980] in a population of Han Chinese subjects. Genetic vaiations are also associated with
    decreased risk of cancer of various other forms including esophageal, gastric, colorectal,
    cervical, and breast, acting in an allele dose-dependent manner


    10/381 NCBI SNPs in CASP8 are shown (see all 381 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 157)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs64350731,2
    		A,C,F,H201832021(+) ccagaG/Agtgac 6 -- int1 ng514Minor allele frequency- A:0.06EU EA WA 418
    rs37698231,2
    		A,C,F,H201831240(-) TTCTTC/TTACTT 5 K/R mis1 int114Minor allele frequency- T:0.33EA EU WA NA NS 2456
    rs67540841,2
    		A,C,F,H201833242(+) GTCCTC/TGTTTT 6 -- ng51 int14Minor allele frequency- T:0.28EU EA WA 420
    rs67479181,2
    		A,C,F,H201805820(+) CCTAGG/AAAAAA 4 -- ng5117Minor allele frequency- A:0.42EU EA WA NA NS 1236
    rs37698211,2
    		A,C,F,H201831675(-) AAAGTA/GGATTG 6 -- ng51 int15Minor allele frequency- G:0.35EA EU WA 1674
    rs10454941,2
    		A,C,F,H201860026(+) TCTTAT/CGCTTA 5 -- ut31 ese39Minor allele frequency- C:0.19EU EA WA NS 604
    rs67435181,2
    		C,F,H201804516(+) TGAAGG/ACCCTT 4 -- ng517Minor allele frequency- A:0.05EU EA WA NA 556
    rs67356561,2
    		C,F,H201832747(+) ACCCAT/GCTTTC 6 -- ng51 int14Minor allele frequency- G:0.28EU EA WA 404
    --
    rs10454851,2
    		C,F,H201857834(+) CCCACG/CATGAC 5 H/D mis1 ese322Minor allele frequency- C:0.11MN CSAM EA NA EU WA NS 1732
    --
    rs178604321,2
    		C,F201859973(+) TATAAG/CAGCTA 5 -- ut31 ese35Minor allele frequency- C:0.01NS 186
    About this table

    HapMap Linkage Disequilibrium images for CASP8 (up to first 250kb)

    Disorders & Mutations
    for CASP8

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 601763   disorders: 607271  114550  114480  211980  

    UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790

  • Defects in CASP8 are the cause of caspase-8 deficiency (CASP8D) [MIM:607271]. CASP8D is a
    disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by
    lymphadenopathy, splenomegaly, and defective CD95-induced apoptosis of peripheral blood
    lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural
    killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes
    simplex virus infections and poor responses to immunization

    • 10/94 Novoseek disease relationships for CASP8 gene (see all 94 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 80.42 142 11264300 (3), 10891503 (2), 16289096 (2), 18946037 (2) (see all 99)
    tumors 75.00 267 15029256 (4), 17525260 (4), 17637740 (3), 18566604 (3) (see all 99)
    autoimmune lymphoproliferative syndrome 68.15 5 18818883 (1), 18424336 (1), 15160902 (1), 15640690 (1)
    cancer 67.96 71 11687970 (2), 12576463 (2), 16193064 (2), 18716417 (2) (see all 50)
    leukemia 64.78 36 17999062 (2), 15906362 (2), 17332322 (2), 19182209 (2) (see all 27)
    promyelocytic leukemia 62.78 4 19122287 (1), 18812519 (1), 12766484 (1), 15770551 (1)
    colon cancer 62.71 18 12692863 (2), 12507932 (1), 16217767 (1), 17182797 (1) (see all 17)
    malignant glioma 51.11 8 15201989 (2), 15809727 (2), 18407431 (1), 10203695 (1) (see all 5)
    glioma 49.64 43 16080161 (6), 10834615 (5), 15015772 (3), 11822871 (2) (see all 19)
    prostate cancer 48.04 12 19095249 (1), 16322271 (1), 16891474 (1), 17178731 (1) (see all 11)
    About this table

    1 PharmGKB disease relationship for CASP8 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    Human Gene Mutation Database: CASP8
    Genetic Association Database: CASP8
    Human Genome Epidemiology Navigator: CASP8 (35 documents)

    Medical News
    for CASP8

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for CASP8

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/1810 PubMed articles for CASP8 gene (see all 1810 ):

    Search for CASP8

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing CASP8

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 841 HGNC: 1509 AceView: CASP8 Ensembl:ENSG00000064012 euGenes: HUgn841
    ECgene: CASP8 H-InvDB: CASP8

    Other Databases showing CASP8

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing CASP8

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for CASP8 Genetics and Cytogenetics in Oncology and Haematology
    CASP8basehttp://bioinf.uta.fi/CASP8base/
    GeneReviewshttp://www.genetests.org/query?gene=CASP8
    NIEHS-SNPshttp://egp.gs.washington.edu/data/casp8/

    Licensable Technologies
    for CASP8

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for CASP8

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for CASP8:
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     Assays/Drugs/Proteins for CASP8
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     Antibodies for CASP8

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