CASP8 Gene
protein-coding GIFtS: 72
GCID: GC02P202062
|
|
caspase 8, apoptosis-related cysteine peptidase(Previous names: caspase 8, apoptosis-related cysteine protease )
| |
Aliases
for CASP8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Caspase 8, Apoptosis-Related Cysteine Peptidase1 2 | | FADD-Like ICE2 3 | | MCH51 2 3 5 | | ICE-Like Apoptotic Protease 52 3 | | FLICE1 2 3 | | MORT1-Associated Ced-3 Homolog2 3 | | MACH1 2 3 | | ALPS2B2 5 | | Casp-81 2 | | Caspase-81 | | Caspase 8, Apoptosis-Related Cysteine Protease1 2 | | MACH-Alpha-1/2/3 Protein2 | | Apoptotic Cysteine Protease2 3 | | MACH-Beta-1/2/3/4 Protein2 | | Apoptotic Protease Mch-52 3 | | CASP-83 | | FADD-Homologous ICE/Ced-3-Like Protease2 3 | | EC 3.4.22.613 | | CAP42 3 | | |
Export aliases for CASP8 gene to outside databasesPrevious GC identifers: GC02P200315 GC02P200822 GC02P202300 GC02P201923 GC02P201807 GC02P193949 |
Summaries
for CASP8 gene(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 CASP8:
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspasesplays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of aprodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolyticprocessing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large andsmall 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-interactingprotein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington diseasepatients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Manyalternatively spliced transcript variants encoding different isoforms have been described, although not all variantshave had their full-length sequences determined. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790Function: Most upstream protease of the activation cascade of caspases responsible for the TNFRSF6/FAS mediated andTNFRSF1A induced cell death. Binding to the adapter molecule FADD recruits it to either receptor. The resultingaggregate called death-inducing signaling complex (DISC) performs CASP8 proteolytic activation. The active dimericenzyme is then liberated from the DISC and free to activate downstream apoptotic proteases. Proteolytic fragments ofthe 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 thesmall-molecule substrate, Ac-Asp-Glu-Val-Asp- -AMC. Likely target for the cowpox virus CRMA death inhibitory protein.Isoform 5, isoform 6, isoform 7 and isoform 8 lack the catalytic site and may interfere with the pro-apoptoticactivity of the complex
 summary
for CASP8: 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 CASP8 (Caspase 8)
|
Genomic Views
for CASP8 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CASP8 gene promoter:
STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for CASP8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASP8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q33-q34 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33-q34CASP8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P202062: view genomic region
(about GC identifiers)
Start:
|
202,098,166 bp from pter |
End:
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202,152,434 bp from pter |
Size:
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54,269 bases |
Orientation:
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plus strand |
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Proteins
for CASP8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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) anda 10 kDa (p10) subunit. Interacts with FADD, CFLAR and PEA15. Isoform 9 interacts at the endoplasmic reticulum with acomplex containing BCAP31, BAP29, BCL2 and/or BCL2L1. Interacts with TNFAIP8L2 (By similarity). Interacts with humancytomegalovirus/HHV-5 protein vICA/UL36; this interaction inhibits CASP8 activation
Subcellular location: Cytoplasm
Sequence caution: Sequence=CAA66858.1; Type=Miscellaneous discrepancy; Sequence=CAA66859.1; Type=Miscellaneousdiscrepancy;
6/11 PDB 3D structures from  and Proteopedia  for CASP8 (see all 11):1F9E (3D)
1I4E (3D)
1QDU (3D)
1QTN (3D)
2C2Z (3D)
2FUN (3D)
Secondary accessions: O14676 Q14791 Q14792 Q14793 Q14794 Q14795 Q14796 Q15780 Q15806 Q53TT5 Q8TDI1Q8TDI2 Q8TDI3 Q8TDI4 Q8TDI5 Q96T22 Q9C0K4 Q9UQ81Alternative splicing: 9 isoforms: Q14790-1 Q14790-2 Q14790-3 Q14790-4 Q14790-5 Q14790-6 Q14790-7 Q14790-8 Q14790-9 (Ref.8 (AAL87628) sequence is in conflict in position: 14:K->R)Explore the universe of human proteins at neXtProt for CASP8: NX_Q14790
Post-translational modifications:
Generation of the subunits requires association with the death-inducing signaling complex (DISC), whereas additionalprocessing is likely due to the autocatalytic activity of the activated protease. GZMB and CASP10 can be involved inthese processing events1
Phosphorylation on Ser-387 during mitosis by CDK1 inhibits activation by proteolysis and prevents apoptosis. Thisphosphorylation occurs in cancer cell lines, as well as in primary breast tissues and lymphocytes1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q14790
CASP8 Protein expression data from MOPED and PaxDb: About this image 
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: ENSP00000376091 ENSP00000412523 ENSP00000264275 ENSP00000391709 ENSP00000396869 ENSP00000376087 ENSP00000388306 ENSP00000351273 ENSP00000407378 ENSP00000397528 ENSP00000325722 ENSP00000390641 ENSP00000390346 ENSP00000394434 ENSP00000264274 ENSP00000376088 ENSP00000376094 Reactome Protein details: Q14790
Human Recombinant Protein Products:
Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table
CASP8 for ontologies About GeneDecksing
CASP8 Antibody Products:
Assay Products for CASP8: |
Protein
Domains /
Families
for CASP8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CASP8 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q14790ProtoNet 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, Q14790Domain: Isoform 9 contains a N-terminal extension that is required for interaction with the BCAP31 complexSimilarity: Belongs to the peptidase C14A familySimilarity: Contains 2 DED (death effector) domains |
Function
for CASP8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790Function: Most upstream protease of the activation cascade of caspases responsible for the TNFRSF6/FAS mediated andTNFRSF1A induced cell death. Binding to the adapter molecule FADD recruits it to either receptor. The resultingaggregate called death-inducing signaling complex (DISC) performs CASP8 proteolytic activation. The active dimericenzyme is then liberated from the DISC and free to activate downstream apoptotic proteases. Proteolytic fragments ofthe 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 thesmall-molecule substrate, Ac-Asp-Glu-Val-Asp- -AMC. Likely target for the cowpox virus CRMA death inhibitory protein.Isoform 5, isoform 6, isoform 7 and isoform 8 lack the catalytic site and may interfere with the pro-apoptoticactivity of the complexCatalytic activity: Strict requirement for Asp at position P1 and has a preferred cleavage sequence of(Leu/Asp/Val)-Glu-Thr-Asp- -(Gly/Ser/Ala) Genatlas biochemistry entry for CASP8:caspase 8,initiator,cysteine containing aspartate-specific protease,CASP3 subfamily,stored in the mitochondrialintermembrane space and released into cytosol after appropriate apoptotic stimuli,promoting CD95/APO1/Fasapoptosis,through the cleavage of BID,C elegans CED1 homolog
Enzyme Number (IUBMB): EC 3.4.22.611
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASP8 (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASP8 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 6): CASP8 (NM_001228) | |  | Sino Biological Human cDNA Clone for CASP8 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CASP8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP8 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
CASP8 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CASP8:
Animal Models:
Mouse knock-outs for CASP8: Casp8tm1.1Yuan Casp8tm1Syon Casp8tm1Yuan
15 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Casp8):
CASP8 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CASP8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/55 super-pathways (see all 55) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | TWEAK Pathway | | | 2 | Apoptosis and survival_Caspase cascade | | | 3 | TRAF6 Mediated Induction of proinflammatory cytokines | | | 4 | Death Receptor Signalling | | | 5 | Apoptotic Pathways in Synovial Fibroblasts | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 EMD Millipore Pathways for CASP8 (see all 6)
1  R&D Systems Pathway for CASP8
5/34 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CASP8 (see all 34)
1 
Cell Signaling Technology (CST) Pathway for CASP8
3 Tocris Bioscience Pathways for CASP8
5/6  GeneGo (Thomson Reuters) Pathways for CASP8 (see all 6)
5/25  BioSystems Pathways for CASP8 (see all 25)
5/26 
Reactome Pathways for CASP8 (see all 26)
5/12 
Kegg Pathways (Kegg details for CASP8) (see all 12):
CASP8 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASP8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/180 Interacting proteins for CASP8 (Q147901, 2, 3 ENSP000003512734) via UniProtKB, MINT, STRING, and/or I2D (see all 180)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| FADD | Q131581, 2, 3, ENSP000003018384 | EBI-78060,EBI-494804 MINT-4055344 MINT-4055373 I2D:
score=10 STRING: ENSP00000301838 | | CASP10 | Q928511, 2, 3, ENSP000002861864 | EBI-78060,EBI-495095 MINT-4055393 I2D:
score=5 STRING: ENSP00000286186 | | CASP8AP2 | Q9UKL32, 3 | MINT-18006 MINT-4298716 MINT-18007 MINT-4298767 MINT-4298744 I2D:
score=3 | | SMPD1 | P174052, 3, ENSP000003404094 | MINT-8095252 MINT-8095356 MINT-8095243 I2D:
score=1 STRING: ENSP00000340409 | | CFLAR | O155192, 3, ENSP000003124554 | MINT-4055334 I2D:
score=5 STRING: ENSP00000312455 |
About this table
Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30): About this table
CASP8 for ontologies About GeneDecksing
|
Drugs & Compounds
for CASP8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CASP8 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for CASP8 |
Compounds for CASP8 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| Ac-LEHD-AFC | Fluorogenic caspase substrate | [210345-03-2] | | Z-VAD-FMK | Cell-permeable, irreversible caspase inhibitor | -- |
10/145 Novoseek chemical compound relationships for CASP8 gene (see all 145) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sp 600125 |
74.8 |
13 |
17054427 (2), 15922728 (1), 17568197 (1), 18187175 (1) (see all 11) |
| adpribose |
74.5 |
39 |
14679006 (1), 15192325 (1), 12432251 (1), 17142972 (1) (see all 37) |
| z-vad-fmk |
71.3 |
7 |
15075347 (1), 11067917 (1), 11931705 (1) |
| phosphatidylserine |
69.4 |
16 |
9973403 (1), 17251479 (1), 14520687 (1), 12415011 (1) (see all 13) |
| bortezomib |
66.9 |
23 |
20442297 (4), 16733806 (3), 20193325 (2), 20471514 (1) (see all 15) |
| methylseleninic acid |
65 |
2 |
15845651 (1), 11306488 (1) |
| bongkrekic acid |
64.7 |
1 |
17431216 (1) |
| suberoylanilide hydroxamic acid |
64.3 |
12 |
17351739 (2), 18636153 (1), 19483105 (1), 18765530 (1) (see all 6) |
| dutp |
64.1 |
8 |
12393527 (1), 19157506 (1), 14982875 (1), 19846818 (1) (see all 6) |
| cycloheximide |
64 |
54 |
18289527 (2), 10355595 (2), 15033719 (2), 11877293 (2) (see all 35) |
Search CenterWatch for drugs/clinical trials and news about CASP8
|
Transcripts
for CASP8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CASP8 gene (7 alternative transcripts): NM_001080124.1 NM_001080125.1 NM_001228.4 NM_033355.3 NM_033356.3 NM_033358.3 NM_033357.2 Unigene Cluster for CASP8: Caspase 8, apoptosis-related cysteine peptidase Hs.599762 [show with all ESTs]Unigene Representative Sequence: NM_00108012518/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22): ENST00000392263 ENST00000432109 ENST00000490682(uc002uxn.3) ENST00000264275
ENST00000471383(uc010ftc.1) ENST00000450491 ENST00000440732 ENST00000392258(uc002uxo.1 uc021vuz.1 uc021vva.1 uc010fte.1)
ENST00000447616 ENST00000358485(uc002uxs.1 uc010ftd.1 uc002uxv.1 uc002uxu.1 uc002uxt.1)
ENST00000437283 ENST00000413726(uc021vuy.1) ENST00000490412 ENST00000339403
ENST00000323492(uc002uxw.1) ENST00000429881 ENST00000442304 ENST00000424461
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASP8 (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASP8 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 6): CASP8 (NM_001228) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CASP8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP8 |
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 EU670044.1 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.100823826 DT.97841485 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): AA169490 BX395849 AF380342 BI836593 X98175 BQ773953 AF009620 AF422926 AI926903 BP873012 AW058359 R07346 BQ218354 BC017031 AY429525 BM846766 U58143 AV759306 BG032662 BU622160 AL702116 AA316847 CB853212 BC028223
GeneLoc Exon Structure
5/16 Alternative Splicing Database (ASD) splice patterns (SP) for CASP8 (see all 16) About this scheme
| 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: | | | - | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CASP8
|
Expression
for CASP8 gene
(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
| CASP8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTATAATCC
About this image
See CASP8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASP8
SOURCE GeneReport for Unigene cluster: Hs.599762
UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790Tissue specificity: Isoform 1, isoform 5 and isoform 7 are expressed in a wide variety of tissues. Highest expressionin peripheral blood leukocytes, spleen, thymus and liver. Barely detectable in brain, testis and skeletal muscle
SABiosciences Expression via Pathway-Focused PCR Arrays including CASP8 (see all 17):
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| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP8 |
Orthologs
for CASP8 gene
(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 CASP8 gene from 2/13 species (see all 13) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CASP81 |
caspase 8, apoptosis-related cysteine peptidase |
64.49(n)
57.81(a) |
|
395284 NM_204592.2 NP_989923.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
AF273220.12 |
-- |
77.82(n) |
|
58022 AF273220.1 |
ENSEMBL Gene Tree for CASP8 (if available)
TreeFam Gene Tree for CASP8 (if available) |
Paralogs
for CASP8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CASP8 gene
- CASP162 CASP62 CASP122 CASP92 CASP72 CASP32 CASP22 CASP142
- CASP12 CASP52 CASP102 CASP42
7 SIMAP similar genes for CASP8 using alignment to 12 protein entries: CASP8_HUMAN (see all proteins):NRAMP1 Casp8 CASP7 CASP3 CASP6 CFLAR
CASP10
CASP8 for paralogs About GeneDecksing
|
Genomic Variants
for CASP8 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
UniProtKB/Swiss-Prot: CASP8_HUMAN, Q14790Polymorphism: Genetic variations in CASP8 are associated with reduced risk of lung cancer [MIM:211980] in a populationof Han Chinese subjects. Genetic variations are also associated with decreased risk of cancer of various other formsincluding esophageal, gastric, colorectal, cervical, and breast, acting in an allele dose-dependent manner
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CASP8 (202098166 - 202152434 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 13 variations for CASP8
13 CNVs: 90220 78937 90219 23598 90217 39275 78936 90218 98103 78935 23081 90221 78938
Human Gene Mutation Database (HGMD): CASP8
Locus Specific Mutation Databases (LSDB): CASP8
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASP8 |
|
Disorders
/ Diseases
for CASP8 gene
(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.)
About This Section
|
CASP8 for disorders About GeneDecksing
OMIM gene information: 601763
OMIM 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 resemblingautoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defectiveCD95-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 andherpes simplex virus infections and poor responses to immunization
20/176  diseases for CASP8 (see all 176): About MalaCardshuntington's disease caspase-8 deficiency neurodegenerative disease lung cancer, protection against
breast cancer, protection against molluscum contagiosum diffuse large b-cell lymphoma langerhans-cell histiocytosis
autoimmune lymphoproliferative syndrome amyotrophic lateral sclerosis (als) talipes equinovarus dna topoisomerase i
large granular lymphocyte leukemia renal clear cell carcinoma non-small cell lung carcinoma amyotrophic lateral sclerosis
b-cell lymphomas squamous cell carcinoma salivary gland cancer lymphoproliferative syndrome
3 diseases from the University of Copenhagen DISEASES database for CASP8:Cancer Autoimmune lymphoproliferative syndrome Vascular disease 10/95 Novoseek disease relationships for CASP8 gene (see all 95) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| necrosis |
80.7 |
154 |
11264300 (3), 10891503 (2), 16289096 (2), 18946037 (2) (see all 99) |
| tumors |
75.4 |
288 |
15029256 (4), 17525260 (4), 17637740 (3), 12615731 (3) (see all 99) |
| cancer |
69.6 |
89 |
19597472 (3), 19111387 (3), 11687970 (2), 12576463 (2) (see all 61) |
| autoimmune lymphoproliferative syndrome |
66.3 |
5 |
18818883 (1), 18424336 (1), 15160902 (1), 15640690 (1) |
| leukemia |
66.2 |
44 |
17999062 (2), 15906362 (2), 20145726 (2), 19182209 (2) (see all 34) |
| colon cancer |
63.2 |
20 |
12692863 (2), 12507932 (1), 16217767 (1), 17182797 (1) (see all 18) |
| promyelocytic leukemia |
62.8 |
4 |
19122287 (1), 18812519 (1), 12766484 (1), 15770551 (1) |
| prostate cancer |
51 |
13 |
19095249 (1), 16322271 (1), 16891474 (1), 17178731 (1) (see all 12) |
| malignant glioma |
50.9 |
8 |
15201989 (2), 15809727 (2), 18407431 (1), 10203695 (1) (see all 5) |
| glioma |
49.7 |
47 |
16080161 (6), 10834615 (5), 15015772 (3), 11822871 (2) (see all 23) |
Genetic Association Database (GAD): CASP8
Human Genome Epidemiology (HuGE) Navigator: CASP8 (94 documents)
Export disorders for CASP8 gene to outside databases
|
Publications
for CASP8 gene (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 CASP8 gene, integrated from 9 sources (see all 2355):
(articles sorted by number of sources associating them with CASP8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Association of a common variant of the CASP8 gene with reduced risk of breast cancer. (PubMed id 15601643)1, 2, 4, 9 MacPherson G.... Cox A. (2004)
- FLICE, a novel FADD-homologous ICE/CED-3-like protease, is recruited to the CD95 (Fas/APO-1) death-inducing signaling complex. (PubMed id 8681377)1, 2, 3, 9 Muzio M.... Dixit V.M. (1996)
- Involvement of MACH, a novel MORT1/FADD-interacting protease, in Fas/APO-1- and TNF receptor-induced cell death. (PubMed id 8681376)1, 2, 3, 9 Boldin M.P.... Wallach D. (1996)
- Role of FLASH in caspase-8-mediated activation of NF-kappaB: dominant-negative function of FLASH mutant in NF-kappaB signaling pathway. (PubMed id 15592525)1, 2, 9 Jun J.-I.... Jung Y.-K. (2005)
- The procaspase-8 isoform, procaspase-8L, recruited to the BAP31 complex at the endoplasmic reticulum. (PubMed id 11917123)1, 2, 9 Breckenridge D.G.... Shore G.C. (2002)
- Characterization of caspase-8L: a novel isoform of caspase-8 that behaves as an inhibitor of the caspase cascade. (PubMed id 12010809)1, 2, 9 Himeji D....Harada M. (2002)
- Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. (PubMed id 12353035)1, 2, 9 Chun H.J.... Lenardo M.J. (2002)
- PED/PEA-15: an anti-apoptotic molecule that regulates FAS/TNFR1- induced apoptosis. (PubMed id 10442631)1, 2, 9 Condorelli G.... Beguinot F. (1999)
- Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma. (PubMed id 18563783)1, 2, 9 Li C....Wei Q. (2008)
- Structure and chromosome localization of the human CASP8 gene. (PubMed id 9931493)1, 2, 9 Grenet J.... Kidd V.J. (1999)
|
External Searches for CASP8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CASP8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CASP8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CASP8 gene(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
|
| Name | Description |
| PharmGKB entry for CASP8 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for CASP8 | Genetics and Cytogenetics in Oncology and Haematology | | CASP8base | http://bioinf.uta.fi/CASP8base/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASP8 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/casp8/ |
|
| | |
About This Section
| Patent Information for CASP8 gene:
Search GeneIP for patents involving CASP8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CASP8 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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