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Aliases for CASP8 Gene

Aliases for CASP8 Gene

  • Caspase 8 2 3 5
  • Caspase 8, Apoptosis-Related Cysteine Peptidase 2 3
  • Caspase 8, Apoptosis-Related Cysteine Protease 2 3
  • MORT1-Associated Ced-3 Homolog 3 4
  • ICE-Like Apoptotic Protease 5 3 4
  • Apoptotic Cysteine Protease 3 4
  • Apoptotic Protease Mch-5 3 4
  • FADD-Like ICE 3 4
  • Casp-8 3 4
  • FLICE 3 4
  • CAP4 3 4
  • MACH 3 4
  • MCH5 3 4
  • FADD-Homologous ICE/CED-3-Like Protease 3
  • FADD-Homologous ICE/Ced-3-Like Protease 4
  • MACH-Beta-1/2/3/4 Protein 3
  • MACH-Alpha-1/2/3 Protein 3
  • EC 3.4.22.61 4
  • ALPS2B 3

External Ids for CASP8 Gene

Previous GeneCards Identifiers for CASP8 Gene

  • GC02P200315
  • GC02P200822
  • GC02P202062
  • GC02P202300
  • GC02P201923
  • GC02P201807
  • GC02P193949

Summaries for CASP8 Gene

Entrez Gene Summary for CASP8 Gene

  • 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, Jul 2008]

GeneCards Summary for CASP8 Gene

CASP8 (Caspase 8) is a Protein Coding gene. Diseases associated with CASP8 include Autoimmune Lymphoproliferative Syndrome, Type Iib and Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections. Among its related pathways are TWEAK Pathway and TNF signaling pathway. GO annotations related to this gene include protein heterodimerization activity and protein complex binding. An important paralog of this gene is CASP1.

UniProtKB/Swiss-Prot for CASP8 Gene

  • 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. Isoform 5, isoform 6, isoform 7 and isoform 8 lack the catalytic site and may interfere with the pro-apoptotic activity of the complex.

Tocris Summary for CASP8 Gene

  • Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

Gene Wiki entry for CASP8 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP8 Gene

Genomics for CASP8 Gene

Regulatory Elements for CASP8 Gene

Enhancers for CASP8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CASP8 on UCSC Golden Path with GeneCards custom track

Promoters for CASP8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CASP8 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CASP8 gene promoter:

Genomic Location for CASP8 Gene

Chromosome:
2
Start:
201,233,443 bp from pter
End:
201,287,711 bp from pter
Size:
54,269 bases
Orientation:
Plus strand

Genomic View for CASP8 Gene

Genes around CASP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP8 Gene

Proteins for CASP8 Gene

  • Protein details for CASP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14790-CASP8_HUMAN
    Recommended name:
    Caspase-8
    Protein Accession:
    Q14790
    Secondary Accessions:
    • O14676
    • Q14791
    • Q14792
    • Q14793
    • Q14794
    • Q14795
    • Q14796
    • Q15780
    • Q15806
    • Q53TT5
    • Q8TDI1
    • Q8TDI2
    • Q8TDI3
    • Q8TDI4
    • Q8TDI5
    • Q96T22
    • Q9C0K4
    • Q9UQ81

    Protein attributes for CASP8 Gene

    Size:
    479 amino acids
    Molecular mass:
    55391 Da
    Quaternary structure:
    • 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). Interacts with CASP8AP2. Interacts with RFFL and RNF34; negatively regulate CASP8 through proteasomal degradation. Interacts with human cytomegalovirus/HHV-5 protein vICA/UL36; this interaction inhibits CASP8 activation. Interacts with NleF from pathogenic E.coli. Interacts with NOL3; decreases CASP8 activity in a mitochondria localization- and phosphorylation-dependent manner and this interaction is dissociated by calcium.
    SequenceCaution:
    • Sequence=CAA66858.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305}; Sequence=CAA66859.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CASP8 Gene

    Alternative splice isoforms for CASP8 Gene

neXtProt entry for CASP8 Gene

Proteomics data for CASP8 Gene at MOPED

Post-translational modifications for CASP8 Gene

  • 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 events.
  • Phosphorylation on Ser-387 during mitosis by CDK1 inhibits activation by proteolysis and prevents apoptosis. This phosphorylation occurs in cancer cell lines, as well as in primary breast tissues and lymphocytes.
  • Ubiquitination at Lys 148 and Lys 169
  • Modification sites at PhosphoSitePlus

Assay Products

  • Enzo Life Sciences assays for CASP8
  • Cloud-Clone Corp Assay Kits for CASP8

No data available for DME Specific Peptides for CASP8 Gene

Domains & Families for CASP8 Gene

Gene Families for CASP8 Gene

Suggested Antigen Peptide Sequences for CASP8 Gene

Graphical View of Domain Structure for InterPro Entry

Q14790

UniProtKB/Swiss-Prot:

CASP8_HUMAN :
  • Isoform 9 contains a N-terminal extension that is required for interaction with the BCAP31 complex.
  • Belongs to the peptidase C14A family.
Domain:
  • Isoform 9 contains a N-terminal extension that is required for interaction with the BCAP31 complex.
  • Contains 2 DED (death effector) domains.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP8: view

Function for CASP8 Gene

Molecular function for CASP8 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
Strict requirement for Asp at position P1 and has a preferred cleavage sequence of (Leu/Asp/Val)-Glu-Thr-Asp- -(Gly/Ser/Ala).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the effector protein NleF that is produced by pathogenic E.coli; this inhibits apoptosis.
UniProtKB/Swiss-Prot 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. Isoform 5, isoform 6, isoform 7 and isoform 8 lack the catalytic site and may interfere with the pro-apoptotic activity of the complex.

Enzyme Numbers (IUBMB) for CASP8 Gene

Gene Ontology (GO) - Molecular Function for CASP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IMP 17047155
GO:0008234 cysteine-type peptidase activity IEA,TAS 8681376
GO:0097199 cysteine-type endopeptidase activity involved in apoptotic signaling pathway IMP 11717445
genes like me logo Genes that share ontologies with CASP8: view
genes like me logo Genes that share phenotypes with CASP8: view

Human Phenotype Ontology for CASP8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CASP8 Gene

MGI Knock Outs for CASP8:

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CASP8 Gene

Localization for CASP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP8 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASP8 Gene COMPARTMENTS Subcellular localization image for CASP8 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 5
nucleus 5
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for CASP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with CASP8: view

Pathways & Interactions for CASP8 Gene

SuperPathways for CASP8 Gene

Superpath Contained pathways
1 TWEAK Pathway
2 CASP8 activity is inhibited
3 MyD88 cascade initiated on plasma membrane
4 Toll-like receptor signaling pathway
5 Apoptotic Pathways in Synovial Fibroblasts
genes like me logo Genes that share pathways with CASP8: view

SIGNOR curated interactions for CASP8 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CASP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0006508 proteolysis IEA,IDA 12888622
GO:0006915 apoptotic process IEA,IMP 22891283
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
genes like me logo Genes that share ontologies with CASP8: view

Drugs & Compounds for CASP8 Gene

(79) Drugs for CASP8 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Z-IETD-FMK Pharma Inhibition, Inhibitor Caspase-8 inhibitor 0
z-VAD-fmk Pharma Cell-permeable, irreversible pan-caspase inhibitor 0
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable 0
Boc-D-FMK Pharma Pan-caspase inhibitor 0
PAC-1 Pharma Procaspase-3 activator 0

(76) Additional Compounds for CASP8 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 132
133407-82-6
Calpeptin
117591-20-5
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1
PD 150606
179528-45-1

(5) Tocris Compounds for CASP8 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor 136632-32-1
PD 150606 Cell permeable calpain inhibitor 179528-45-1

(6) ApexBio Compounds for CASP8 Gene

Compound Action Cas Number
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Boc-D-FMK Pan-caspase inhibitor 187389-53-3, 634911-80-1
PAC-1 Procaspase-3 activator 315183-21-2
Q-VD-OPh hydrate Cell-permeable, irreversible pan-caspase inhibitor 1135695-98-5
Z-IETD-FMK Caspase-8 inhibitor 210344-98-2
Z-VAD-FMK Cell-permeable, irreversible pan-caspase inhibitor 187389-52-2
genes like me logo Genes that share compounds with CASP8: view

Drug Products

Transcripts for CASP8 Gene

Unigene Clusters for CASP8 Gene

Caspase 8, apoptosis-related cysteine peptidase:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASP8 Gene

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: -
SP6: - - - -
SP7: - - -
SP8: - -
SP9: - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - -
SP12: - - - - -
SP13: - - - - - - - -
SP14: -
SP15:
SP16: -

ExUns: 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d ^ 19a · 19b
SP1: - -
SP2: - -
SP3: - -
SP4: -
SP5: - -
SP6:
SP7: - -
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13: - - -
SP14:
SP15:
SP16:

Relevant External Links for CASP8 Gene

GeneLoc Exon Structure for
CASP8
ECgene alternative splicing isoforms for
CASP8

Expression for CASP8 Gene

mRNA expression in normal human tissues for CASP8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP8 Gene

This gene is overexpressed in Whole Blood (x15.0).

Protein differential expression in normal tissues from HIPED for CASP8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.0) and Lymph node (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CASP8 Gene



SOURCE GeneReport for Unigene cluster for CASP8 Gene Hs.599762

mRNA Expression by UniProt/SwissProt for CASP8 Gene

Q14790-CASP8_HUMAN
Tissue specificity: Isoform 1, isoform 5 and isoform 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.
genes like me logo Genes that share expression patterns with CASP8: view

No data available for Protein tissue co-expression partners for CASP8 Gene

Orthologs for CASP8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CASP8 35
  • 80 (n)
  • 72.21 (a)
CASP8 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASP8 35
  • 83.05 (n)
  • 78.15 (a)
CASP8 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casp8 35
  • 76.63 (n)
  • 69.26 (a)
Casp8 16
Casp8 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CASP8 35
  • 99.63 (n)
  • 99.63 (a)
CASP8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casp8 35
  • 75.84 (n)
  • 67.8 (a)
oppossum
(Monodelphis domestica)
Mammalia CASP8 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASP8 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASP8 35
  • 65.46 (n)
  • 58.39 (a)
CASP8 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia casp8 35
  • 50.33 (n)
  • 41.21 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
casp8l1 35
  • 53.21 (n)
  • 43.77 (a)
casp8l2 36
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Dcp-1 36
  • 29 (a)
ManyToMany
decay 36
  • 29 (a)
ManyToMany
Ice 36
  • 30 (a)
ManyToMany
Species with no ortholog for CASP8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASP8 Gene

ENSEMBL:
Gene Tree for CASP8 (if available)
TreeFam:
Gene Tree for CASP8 (if available)

Paralogs for CASP8 Gene

Paralogs for CASP8 Gene

genes like me logo Genes that share paralogs with CASP8: view

Variants for CASP8 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CASP8 Gene

CASP8_HUMAN-Q14790
Genetic variations in CASP8 are associated with reduced risk of lung cancer [MIM:211980] in a population of Han Chinese subjects. Genetic variations 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.

Sequence variations from dbSNP and Humsavar for CASP8 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs17860424 Caspase-8 deficiency (CASP8D) 201,276,908(+) AAGCA(C/T)GGGAG intron-variant, nc-transcript-variant, reference, missense
rs1045485 - 201,284,866(+) CCCAC(C/G)ATGAC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs35976359 - 201,274,948(+) GTGAA(A/G/T)CACAG intron-variant, nc-transcript-variant, reference, missense
rs766536 -- 201,240,025(+) TCATA(G/T)AGATT intron-variant
rs1861268 -- 201,262,255(-) CTGTC(C/T)CCATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASP8 Gene

Variant ID Type Subtype PubMed ID
nsv435730 CNV Deletion 17901297
esv2573574 CNV Deletion 19546169
esv1004879 CNV Deletion 20482838
esv2721364 CNV Deletion 23290073
esv1009106 CNV Deletion 20482838
esv1122953 CNV Deletion 17803354

Variation tolerance for CASP8 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASP8 Gene

Human Gene Mutation Database (HGMD)
CASP8

Disorders for CASP8 Gene

MalaCards: The human disease database

(19) MalaCards diseases for CASP8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome, type iib
  • caspase-8 deficiency
autoimmune lymphoproliferative syndrome with recurrent viral infections
  • autoimmune lymphoproliferative syndrome type 2b
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
lung cancer
  • lung cancer, protection against
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search CASP8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CASP8_HUMAN
  • Caspase-8 deficiency (CASP8D) [MIM:607271]: 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. {ECO:0000269 PubMed:12353035}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CASP8

Genetic Association Database (GAD)
CASP8
Human Genome Epidemiology (HuGE) Navigator
CASP8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASP8
genes like me logo Genes that share disorders with CASP8: view

No data available for Genatlas for CASP8 Gene

Publications for CASP8 Gene

  1. Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma. (PMID: 18563783) Li C. … Wei Q. (Hum. Mutat. 2008) 3 4 48 67
  2. FLICE, a novel FADD-homologous ICE/CED-3-like protease, is recruited to the CD95 (Fas/APO-1) death-inducing signaling complex. (PMID: 8681377) Muzio M. … Dixit V.M. (Cell 1996) 2 3 23
  3. Caspase 8 and human villous cytotrophoblast differentiation. (PMID: 20080300) Rote N.S. … Luo L. (Placenta 2010) 3 23
  4. The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck. (PMID: 20086182) Li C. … Wei Q. (Cancer Prev Res (Phila) 2010) 3 23
  5. Activity of protein kinase CK2 uncouples Bid cleavage from caspase-8 activation. (PMID: 20356928) Hellwig C.T. … Rehm M. (J. Cell. Sci. 2010) 3 23

Products for CASP8 Gene

  • Addgene plasmids for CASP8

Sources for CASP8 Gene

Content