CASP8 (caspase 8)

Gene Basic Information

Gene Basic Information

symbol:
CASP8
locus group:
protein-coding gene
location:
2q33.1
gene_family:
Caspases
alias symbol:
MCH5|MACH|FLICE|Casp-8
alias name:
None
entrez id:
841
ensembl gene id:
ENSG00000064012
ucsc gene id:
uc002uxt.2
refseq accession:
NM_001228
hgnc_id:
HGNC:1509
approved reserved:
1996-11-11

Chromosome Location

Chromosome Location

2q33.1

Gene Summary

Gene Summary

CASP8（Caspase 8）是一种重要的半胱氨酸蛋白酶（cysteine protease），属于Caspase基因家族，该家族成员在细胞凋亡（程序性细胞死亡）和炎症反应中起关键作用。CASP8的主要功能是作为凋亡信号通路的启动者，在外源性凋亡途径（extrinsic apoptosis pathway）中，它被死亡受体（如FAS或TNF受体）激活后，切割下游蛋白（如CASP3和CASP7），触发细胞凋亡。此外，CASP8还参与调控炎症反应和免疫细胞的存活。CASP8主要在免疫系统、胚胎发育和组织稳态中发挥作用，其活性位点包含一个半胱氨酸残基，能特异性切割天冬氨酸后的肽键（Asp-X）。CASP8突变可能导致功能丧失或过度激活，功能丧失突变与自身免疫性疾病（如自身免疫性淋巴增生综合征，ALPS）和某些癌症（如神经母细胞瘤）相关，而过度激活可能导致过度细胞死亡，影响组织发育。CASP8过表达可能增强细胞凋亡，抑制肿瘤生长，但也可能引起病理性的组织损伤；而降低表达可能导致凋亡受阻，促进肿瘤发生或自身免疫疾病。Caspase基因家族的共性是其成员均含有半胱氨酸蛋白酶活性，并参与细胞凋亡或炎症过程，部分成员（如CASP1、CASP4）主要调控炎症小体（inflammasome）激活。CASP8还与病毒感染（如HPV）的免疫逃逸有关，某些病毒蛋白可抑制其活性以逃避宿主免疫清除。

ChineseEnglish

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]

OMIM entry for CASP8     Wikipedia entry for CASP8

Gene Sequence

Gene Sequence

Nucleotide sequence of CASP8:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD
41ALMLFQRLQE KRMLEESNLS FLKELLFRIN RLDLLITYLN
81 TRKEEMERE LQTPGRAQIS AYRVMLYQIS EEVSRSELRS
121FKFLLQEEIS KCKLDDDMNL LDIFIEMEKR VILGEGKLDI
161L KRVCAQIN KSLLKIINDY EEFSKERSSS LEGSPDEFSN
201GEELCGVMTI SDSPREQDSE SQTLDKVYQM KSKPRGYCLI
241IN NHNFAKA REKVPKLHSI RDRNGTHLDA GALTTTFEEL
281HFEIKPHDDC TVEQIYEILK IYQLMDHSNM DCFICCILSH
321GDK GIIYGT DGQEAPIYEL TSQFTGLKCP SLAGKPKVFF
361IQACQGDNYQ KGIPVETDSE EQPYLEMDLS SPQTRYIPDE
401ADFL LGMAT VNNCVSYRNP AEGTWYIQSL CQSLRERCPR
441GDDILTILTE VNYEVSNKDD KKNMGKQMPQ PTFTLRKKLV
481FPSD
结构预测来自 AlphaFold DB（UniProt: Q14790），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of CASP8:           Showing partial SNPs
rs1035141       rs17649845       rs35010052       rs374077491       rs530471741       rs544950665       rs549258969       rs13113       rs766536       rs1035140       rs1045485       rs1045487       rs1045494       rs1045495       rs1045501       rs1128421       rs1128423      

Gene Expression

Gene Expression

Tissue expression of CASP8:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
AACACTAGAAAGGAGGAGATGG
59
ATAGAGCATGACCCTGTAGG
58
CAACGACTATGAAGAATTCAGC
58
TGTCCAAAGTCTGTGATTCAC
59
CTTGAACCTTGGGAATATTGAGAG
60
CATAGTTCTGCTCTTCTAAAGGG
59
AATTTCTGCCTACAGGTTCCA
60
AAAGGTACAGACTGTGTCTGG
60
ACAGGGTCATGCTCTATCAG
59
AAATATCCAGCAGGTTCATGTC
59
AACACTAGAAAGGAGGAGATGG
59
ATAGAGCATGACCCTGTAGG
58
TGGAGCGGATTATATTCTCCT
58
TTCACTGTCCAGTTGTTCC
58
AACACTAGAAAGGAGGAGATGG
59
ATAGAGCATGACCCTGTAGG
58
GTTTCCTACCGAAACCCTG
58
AATATCATCGCCTCGAGGA
58
AACACTAGAAAGGAGGAGATGG
59
ATAGAGCATGACCCTGTAGG
58

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
CEBPD
CASP8
Unknown
24810056
CREB1
CASP8
Activation
18342014
DNMT1
CASP8
Repression
20398055
MEN1
CASP8
Activation
17766243
RUNX3
CASP8
Activation
15930301

Gene Ontology

Subcellular localization of CASP8 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for CASP8:

GO ID
Protein
Source DB
GO:0004197
A0A0A0MS31 (UniProtKB)
IEA
GO:0006508
A0A0A0MS31 (UniProtKB)
IEA
GO:0006915
A0A0A0MS31 (UniProtKB)
IEA
GO:0042981
A0A0A0MS31 (UniProtKB)
IEA
GO:0004197
C9JB29 (UniProtKB)
IEA
GO:0006508
C9JB29 (UniProtKB)
IEA
GO:0006915
C9JB29 (UniProtKB)
IEA
GO:0042981
C9JB29 (UniProtKB)
IEA
GO:0004197
E7EQ01 (UniProtKB)
IEA
GO:0006508
E7EQ01 (UniProtKB)
IEA
GO:0006915
E7EQ01 (UniProtKB)
IEA
GO:0042981
E7EQ01 (UniProtKB)
IEA
GO:0004197
E7EQ06 (UniProtKB)
IEA
GO:0006508
E7EQ06 (UniProtKB)
IEA
GO:0006915
E7EQ06 (UniProtKB)
IEA
GO:0042981
E7EQ06 (UniProtKB)
IEA
GO:0004197
E7ETB7 (UniProtKB)
IEA
GO:0006508
E7ETB7 (UniProtKB)
IEA
GO:0006915
E7ETB7 (UniProtKB)
IEA
GO:0042981
E7ETB7 (UniProtKB)
IEA
GO:0004197
E7EVN1 (UniProtKB)
IEA
GO:0006508
E7EVN1 (UniProtKB)
IEA
GO:0006915
E7EVN1 (UniProtKB)
IEA
GO:0042981
E7EVN1 (UniProtKB)
IEA
GO:0004197
H7BZM4 (UniProtKB)
IEA
GO:0006508
H7BZM4 (UniProtKB)
IEA
GO:0006915
H7BZM4 (UniProtKB)
IEA
GO:0042981
H7BZM4 (UniProtKB)
IEA
GO:0004197
H7C0E2 (UniProtKB)
IEA
GO:0005654
H7C0E2 (UniProtKB)
IDA
GO:0005737
H7C0E2 (UniProtKB)
IDA
GO:0006508
H7C0E2 (UniProtKB)
IEA
GO:0006915
H7C0E2 (UniProtKB)
IEA
GO:0042981
H7C0E2 (UniProtKB)
IEA
GO:0004197
Q14790 (UniProtKB)
IDA
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0004197
Q14790 (UniProtKB)
TAS
GO:0005123
Q14790 (UniProtKB)
IEA
GO:0005164
Q14790 (UniProtKB)
IEA
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005515
Q14790 (UniProtKB)
IPI
GO:0005654
Q14790 (UniProtKB)
IDA
GO:0005737
Q14790 (UniProtKB)
IDA
GO:0005739
Q14790 (UniProtKB)
IDA
GO:0005741
Q14790 (UniProtKB)
TAS
GO:0005741
Q14790 (UniProtKB)
TAS
GO:0005815
Q14790 (UniProtKB)
IDA
GO:0005829
Q14790 (UniProtKB)
IDA
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005829
Q14790 (UniProtKB)
TAS
GO:0005856
Q14790 (UniProtKB)
TAS
GO:0006508
Q14790 (UniProtKB)
IDA
GO:0006915
Q14790 (UniProtKB)
IGI
GO:0006915
Q14790 (UniProtKB)
IMP
GO:0006919
Q14790 (UniProtKB)
TAS
GO:0006921
Q14790 (UniProtKB)
TAS
GO:0007166
Q14790 (UniProtKB)
TAS
GO:0008233
Q14790 (UniProtKB)
IMP
GO:0008234
Q14790 (UniProtKB)
TAS
GO:0009409
Q14790 (UniProtKB)
IEA
GO:0010803
Q14790 (UniProtKB)
TAS
GO:0010939
Q14790 (UniProtKB)
TAS
GO:0030101
Q14790 (UniProtKB)
TAS
GO:0030225
Q14790 (UniProtKB)
TAS
GO:0031264
Q14790 (UniProtKB)
IDA
GO:0031264
Q14790 (UniProtKB)
IDA
GO:0031265
Q14790 (UniProtKB)
IDA
GO:0031625
Q14790 (UniProtKB)
IPI
GO:0032025
Q14790 (UniProtKB)
IEA
GO:0032355
Q14790 (UniProtKB)
IEA
GO:0032403
Q14790 (UniProtKB)
IEA
GO:0032496
Q14790 (UniProtKB)
IEA
GO:0034612
Q14790 (UniProtKB)
IMP
GO:0035666
Q14790 (UniProtKB)
TAS
GO:0035877
Q14790 (UniProtKB)
IPI
GO:0036462
Q14790 (UniProtKB)
IDA
GO:0039650
Q14790 (UniProtKB)
TAS
GO:0039650
Q14790 (UniProtKB)
TAS
GO:0042110
Q14790 (UniProtKB)
TAS
GO:0042113
Q14790 (UniProtKB)
TAS
GO:0042802
Q14790 (UniProtKB)
IPI
GO:0042802
Q14790 (UniProtKB)
IPI
GO:0043005
Q14790 (UniProtKB)
IEA
GO:0043123
Q14790 (UniProtKB)
IEP
GO:0043123
Q14790 (UniProtKB)
IMP
GO:0043124
Q14790 (UniProtKB)
IMP
GO:0044297
Q14790 (UniProtKB)
IEA
GO:0045121
Q14790 (UniProtKB)
IEA
GO:0045471
Q14790 (UniProtKB)
IEA
GO:0045651
Q14790 (UniProtKB)
IMP
GO:0045862
Q14790 (UniProtKB)
IDA
GO:0046677
Q14790 (UniProtKB)
IEA
GO:0051291
Q14790 (UniProtKB)
IEA
GO:0051603
Q14790 (UniProtKB)
IMP
GO:0060715
Q14790 (UniProtKB)
TAS
GO:0070423
Q14790 (UniProtKB)
TAS
GO:0071260
Q14790 (UniProtKB)
IEP
GO:0071407
Q14790 (UniProtKB)
IEA
GO:0071550
Q14790 (UniProtKB)
TAS
GO:0097110
Q14790 (UniProtKB)
IPI
GO:0097153
Q14790 (UniProtKB)
IMP
GO:0097190
Q14790 (UniProtKB)
IMP
GO:0097190
Q14790 (UniProtKB)
TAS
GO:0097190
Q14790 (UniProtKB)
TAS
GO:0097191
Q14790 (UniProtKB)
IDA
GO:0097194
Q14790 (UniProtKB)
IMP
GO:0097199
Q14790 (UniProtKB)
IMP
GO:0097202
Q14790 (UniProtKB)
IDA
GO:0097296
Q14790 (UniProtKB)
TAS
GO:0097342
Q14790 (UniProtKB)
IDA
GO:1900740
Q14790 (UniProtKB)
TAS
GO:1902041
Q14790 (UniProtKB)
TAS
GO:1902042
Q14790 (UniProtKB)
TAS
GO:1902042
Q14790 (UniProtKB)
TAS

Related microRNA

Related microRNA

microRNAs potentially regulating CASP8:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Autoimmune Lymphoproliferative Syndrome Type 2B 0.440542884 2 1 BeFree_CLINVAR_MGD_ORPHANET_UNIPROT
Liver carcinoma 0.250334654 18 1 BeFree_CLINVAR_CTD_human_LHGDN
Status Epilepticus 0.2 2 0 CTD_human_RGD
Mammary Neoplasms 0.141980367 11 0 BeFree_CTD_human_GAD_LHGDN
Lung Neoplasms 0.128715934 6 0 BeFree_CTD_human_LHGDN
melanoma 0.127805801 11 0 BeFree_CTD_human_GAD_LHGDN
Chronic Lymphocytic Leukemia 0.123995683 7 8 BeFree_GAD_GWASCAT
Precursor Cell Lymphoblastic Leukemia Lymphoma 0.122995792 2 0 BeFree_CTD_human_LHGDN
Adenocarcinoma 0.122909916 4 0 BeFree_CTD_human_GAD
Non-Small Cell Lung Carcinoma 0.122714419 11 0 BeFree_CTD_human

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