Gene Gene information from NCBI Gene database.
Entrez ID 841
Gene name Caspase 8
Gene symbol CASP8
Synonyms (NCBI Gene)
ALPS2BCAP4Casp-8FLICEMACHMCH5
Chromosome 2
Chromosome location 2q33.1
Summary 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 pro
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs17860424 C>T Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs587776665 GT>- Pathogenic Downstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
374
miRTarBase ID miRNA Experiments Reference
MIRT005293 hsa-let-7a-5p Western blot 18758960
MIRT006278 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT006278 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT006278 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT029158 hsa-miR-26b-5p Microarray 19088304
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
CEBPD Unknown 24810056
CREB1 Activation 18342014
DNMT1 Repression 20398055
MEN1 Activation 17766243
RUNX3 Activation 15930301
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
109
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly ISS
GO:0001525 Process Angiogenesis ISS
GO:0001817 Process Regulation of cytokine production IEA
GO:0001817 Process Regulation of cytokine production ISS
GO:0002682 Process Regulation of immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601763 1509 ENSG00000064012
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14790
Protein name Caspase-8 (CASP-8) (EC 3.4.22.61) (Apoptotic cysteine protease) (Apoptotic protease Mch-5) (CAP4) (FADD-homologous ICE/ced-3-like protease) (FADD-like ICE) (FLICE) (ICE-like apoptotic protease 5) (MORT1-associated ced-3 homolog) (MACH) [Cleaved into: Casp
Protein function Thiol protease that plays a key role in programmed cell death by acting as a molecular switch for apoptosis, necroptosis and pyroptosis, and is required to prevent tissue damage during embryonic development and adulthood (PubMed:23516580, PubMed
PDB 1F9E , 1I4E , 1QDU , 1QTN , 2C2Z , 2FUN , 2K7Z , 2Y1L , 3H11 , 3KJN , 3KJQ , 4JJ7 , 4PRZ , 4PS1 , 4ZBW , 5H31 , 5H33 , 5JQE , 5L08 , 6AGW , 6PX9 , 7DEE , 7LVJ , 7LVM , 8YBX , 8YD7 , 8YD8 , 8YM4 , 8YM5 , 8YM6 , 8YNI , 8YNK , 8YNL , 8YNM , 8YNN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01335 DED 3 84 Death effector domain Domain
PF01335 DED 101 180 Death effector domain Domain
PF00656 Peptidase_C14 234 476 Domain
Tissue specificity 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.
Sequence
Sequence length 479
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Platinum drug resistance
p53 signaling pathway
Apoptosis
Apoptosis - multiple species
Necroptosis
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
TNF signaling pathway
Non-alcoholic fatty liver disease
Alcoholic liver disease
Alzheimer disease
Huntington disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection
Legionellosis
Chagas disease
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Viral carcinogenesis
Viral myocarditis
Lipid and atherosclerosis
  Apoptotic cleavage of cellular proteins
Caspase activation via Death Receptors in the presence of ligand
NOD1/2 Signaling Pathway
TRIF-mediated programmed cell death
Caspase-mediated cleavage of cytoskeletal proteins
Regulation by c-FLIP
RIPK1-mediated regulated necrosis
CASP8 activity is inhibited
TNFR1-induced proapoptotic signaling
Regulation of TNFR1 signaling
CLEC7A/inflammasome pathway
Regulation of necroptotic cell death
Dimerization of procaspase-8
Activation, myristolyation of BID and translocation to mitochondria
Apoptotic execution phase
FasL/ CD95L signaling
TRAIL signaling
TLR3-mediated TICAM1-dependent programmed cell death
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
317
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune lymphoproliferative syndrome type 2B Likely pathogenic; Pathogenic rs373232880, rs1457092267, rs1948252170, rs1559374786, rs2470005907, rs143410219, rs762135470, rs2470081765, rs17860424, rs2470084250, rs2470003978, rs758051022, rs760132764, rs747862347, rs777784105
View all (2 more)
RCV001379656
RCV001898605
RCV002040866
RCV002632653
RCV002638923
RCV002890277
RCV002967234
RCV003052336
RCV000008201
RCV003510173
RCV003620040
RCV003619487
RCV003619638
RCV000778584
RCV001216905
RCV001243840
RCV001267745
Hepatocellular carcinoma Pathogenic rs587776665 RCV000008202
Lung cancer Likely pathogenic rs1559356254 RCV003990653
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BREAST CANCER, PROTECTION AGAINST Benign rs1045485 RCV000008203
CASP8-related disorder Uncertain significance; Likely benign; Benign rs149933993, rs140527175, rs971778876, rs35976359 RCV003401353
RCV003911493
RCV003913961
RCV004753153
Cervical cancer Benign rs17860432 RCV005896051
Familial cancer of breast Benign; Likely benign; Uncertain significance rs17860422, rs200261147 RCV002504124
RCV003224393
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 11861282
Adenocarcinoma Associate 22199128, 22843554
Adenocarcinoma of Lung Associate 16052233, 23470529, 27706758, 28278082, 33985619, 35866781
Adenoma Islet Cell Associate 28314692
Adenoma Pleomorphic Associate 23510689
Alzheimer Disease Associate 26939933, 28558704, 28985224
Aneuploidy Inhibit 27592797
Anterior Cruciate Ligament Injuries Associate 31692049
Anthracosis Associate 34982434
Anus Neoplasms Associate 27325299, 27462786