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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
78
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (12 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma Pathogenic rs587776665 RCV000008202
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer Likely pathogenic rs1559356254 RCV003990653
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME-RECURRENT VIRAL INFECTIONS DUE TO CASP8 DEFICIENCY Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF SKIN GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 17684142
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16579975, 22010212, 27834956
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30551620
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15645141, 23470529
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 21472143
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 21472143
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23470529, 27195913, 28278082, 29843634
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 21472143
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 21472143
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 21472143
★☆☆☆☆
Found in Text Mining only