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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
  • Caspase-8 3
  • 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]

CIViC summary for CASP8 Gene

GeneCards Summary for CASP8 Gene

CASP8 (Caspase 8) is a Protein Coding gene. Diseases associated with CASP8 include Autoimmune Lymphoproliferative Syndrome, Type Iib and Hepatocellular Carcinoma. Among its related pathways are Dimerization of procaspase-8 and AGE/RAGE pathway. GO annotations related to this gene include protein heterodimerization activity and protein complex binding. An important paralog of this gene is CASP10.

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

Additional gene information 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H201251 1.9 FANTOM5 Ensembl ENCODE dbSUPER 56.2 +25.1 25060 13 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 FOS CASP8 ALS2CR12 STRADB PPIL3 CASP10 CLK1 CFLAR FAM126B
GH02H201404 1.2 Ensembl ENCODE 26.8 +172.3 172256 2 ARNT BRCA1 ATF7 RUNX3 REST ZNF592 KAT8 NFIL3 ATF4 SMARCA4 CASP8 PPIL3 TRAK2 ALS2CR12 RNU6-651P TMEM237 LOC100420110 STRADB
GH02H201277 0.6 dbSUPER 51.3 +46.3 46262 3 ZNF512 NR2F1 IKZF1 CEBPB CEBPG ATF2 PRDM1 MAFK SPI1 CASP8 STRADB PPIL3 ALS2CR12 TRAK2
GH02H201269 0.8 dbSUPER 34.3 +38.1 38107 4 HDGF TAL1 ZSCAN4 TSC22D4 CEBPG ZNF121 ZNF207 ATF7 SOX6 NFIA CASP8 NOP58 STRADB ORC2 CLK1 ALS2CR12 TRAK2 LOC100420110 C2CD6 ENO1P4
GH02H201450 1.1 ENCODE 24.4 +218.7 218738 3 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF207 CASP8 STRADB TMEM237 C2CD6 ENO1P4 ALS2CR12 TRAK2 GC02P201507
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000128782 757 2001 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ATF7 RUNX3

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

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 posLast=148148 and Lys169
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CASP8 Gene

Domains & Families for CASP8 Gene

Gene Families for CASP8 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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.
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

Phenotypes From GWAS Catalog for CASP8 Gene

Gene Ontology (GO) - Molecular Function for CASP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS --
GO:0005123 death receptor binding IEA --
GO:0005164 tumor necrosis factor receptor binding IEA --
GO:0005515 protein binding IPI 9208847
GO:0008233 peptidase activity IMP,IDA 17047155
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:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for CASP8
  • Applied Biological Materials Clones for CASP8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASP8 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 5
extracellular 2
endoplasmic reticulum 2
lysosome 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion TAS 10891503
GO:0005741 mitochondrial outer membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CASP8: view

Pathways & Interactions for CASP8 Gene

SuperPathways for CASP8 Gene

SuperPathway Contained pathways
1 TNFR1 Pathway
2 Dimerization of procaspase-8
3 Activated TLR4 signalling
4 Apoptosis Modulation and Signaling
.41
.33
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:0006508 proteolysis IEA,IDA 12888622
GO:0006915 apoptotic process IGI,IMP 22891283
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
GO:0007166 cell surface receptor signaling pathway TAS --
GO:0009409 response to cold IEA --
genes like me logo Genes that share ontologies with CASP8: view

Drugs & Compounds for CASP8 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2823
Bardoxolone Investigational Pharma Target Once-a-day treatment for CKD 0
PAC-1 Investigational Pharma Procaspase-3 activator 0
Tasisulam Investigational Pharma 0
Emricasan Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 101
110044-82-1

(3) Tocris Compounds for CASP8 Gene

Compound Action Cas Number
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 101 Calpain inhibitor; activates p53-dependent apoptosis 110044-82-1
PD 150606 Cell permeable calpain inhibitor 179528-45-1

(11) 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
Caspase-8 Inhibitor Z-IETD-FMK Novel and selective caspase-8 inhibitor
Cisplatin Inhibits DNA synthesis,chemotherapy drug 15663-27-1
Gambogic Acid Caspase activator and apoptosis inducer 2752-65-0
PAC-1 Procaspase-3 activator 315183-21-2
Q-VD-OPh hydrate Cell-permeable, irreversible pan-caspase inhibitor 1135695-98-5
Tasisulam 519055-62-0
Z-DEVD-FMK Caspase-3 inhibitor 210344-95-9
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:

CRISPR Products

Clone Products

  • Addgene plasmids for CASP8
  • Applied Biological Materials Clones for CASP8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CASP8 Gene



NURSA nuclear receptor signaling pathways regulating expression of CASP8 Gene:

CASP8

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.

Evidence on tissue expression from TISSUES for CASP8 Gene

  • Blood(4.6)
  • Intestine(3.1)
  • Lung(2.9)
  • Bone marrow(2.8)
  • Liver(2.8)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Nervous system(2.6)
  • Heart(2.5)
  • Kidney(2.5)
  • Muscle(2.4)
  • Skin(2.4)
  • Stomach(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • head
  • mouth
  • salivary gland
  • sinus
  • skull
Thorax:
  • breast
  • bronchus
  • esophagus
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • anus
  • rectum
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • skin
  • white blood cell
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
chimpanzee
(Pan troglodytes)
Mammalia CASP8 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia CASP8 33 34
  • 83.05 (n)
cow
(Bos Taurus)
Mammalia CASP8 33 34
  • 80 (n)
mouse
(Mus musculus)
Mammalia Casp8 33 16 34
  • 76.63 (n)
rat
(Rattus norvegicus)
Mammalia Casp8 33
  • 75.84 (n)
oppossum
(Monodelphis domestica)
Mammalia CASP8 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASP8 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASP8 33 34
  • 65.46 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia casp8 33
  • 50.33 (n)
zebrafish
(Danio rerio)
Actinopterygii casp8l1 33
  • 53.21 (n)
casp8l2 34
  • 34 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Ice 34
  • 30 (a)
ManyToMany
Dcp-1 34
  • 29 (a)
ManyToMany
decay 34
  • 29 (a)
ManyToMany
Species where no ortholog for CASP8 was found in the sources mined by GeneCards:
  • 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 Pathogenic, Caspase-8 deficiency (CASP8D) [MIM:607271] 201,276,908(+) AAGCA(C/T)GGGAG nc-transcript-variant, reference, missense
rs587776665 Pathogenic 201,285,241(+) ACTGT(-/GT)TTCCT nc-transcript-variant, downstream-variant-500B, reference, frameshift-variant
rs13425113 Likely benign 201,286,654(+) tctgt(C/T)gccca nc-transcript-variant, utr-variant-3-prime
rs13425383 Likely benign 201,286,693(+) tcacc(A/G)caagc nc-transcript-variant, utr-variant-3-prime
rs17860428 Likely benign 201,286,677(+) GTGGC(A/G)TGATC nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv2129n106 CNV deletion 24896259
esv1004879 CNV deletion 20482838
esv1009106 CNV deletion 20482838
esv1122953 CNV deletion 17803354
esv2573574 CNV deletion 19546169
esv2721364 CNV deletion 23290073
esv2839680 CNV deletion 24192839
esv3360882 CNV insertion 20981092
esv3560819 CNV deletion 23714750
esv3560820 CNV deletion 23714750
esv3584273 CNV loss 25503493
esv3893532 CNV loss 25118596
nsv1136312 CNV deletion 24896259
nsv435730 CNV deletion 17901297
nsv584160 CNV loss 21841781
nsv954819 CNV duplication 24416366
nsv954820 CNV duplication 24416366
nsv955018 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP8

Disorders for CASP8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome, type iib
  • autoimmune lymphoproliferative syndrome type 2b
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
adult hepatocellular carcinoma
  • adult hcc
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. 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 VM (Cell 1996) 2 3 4 22 60
  2. 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 prevention research (Philadelphia, Pa.) 2010) 3 22 45 60
  3. Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma. (PMID: 18563783) Li C … Wei Q (Human mutation 2008) 3 4 45 60
  4. A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers. (PMID: 17450141) Sun T … Lin D (Nature genetics 2007) 3 4 45 60
  5. A common coding variant in CASP8 is associated with breast cancer risk. (PMID: 17293864) Cox A … Breast Cancer Association Consortium (Nature genetics 2007) 3 4 45 60

Products for CASP8 Gene

  • Addgene plasmids for CASP8

Sources for CASP8 Gene