Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
841
Gene name Gene Name - the full gene name approved by the HGNC.
Caspase 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CASP8
Synonyms (NCBI Gene) Gene synonyms aliases
ALPS2B, CAP4, Casp-8, FLICE, MACH, MCH5
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
Summary Summary of gene provided in NCBI Entrez 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 pro
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
CEBPD Unknown 24810056
CREB1 Activation 18342014
DNMT1 Repression 20398055
MEN1 Activation 17766243
RUNX3 Activation 15930301
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601763 1509 ENSG00000064012
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Autoimmune Lymphoproliferative Disorder autoimmune lymphoproliferative syndrome type 2b rs17860424, rs747862347 N/A
hepatocellular carcinoma Hepatocellular carcinoma rs587776665 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer N/A N/A GWAS
Breast Cancer Breast cancer (estrogen-receptor negative), Postmenopausal breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma, Squamous cell carcinoma N/A N/A GWAS
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Associations from Text Mining Disease 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