ENSG00000064012


Homo sapiens

Features
Gene ID: ENSG00000064012
  
Biological name :CASP8
  
Synonyms : CASP8 / caspase 8 / Q14790
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q33.1
Gene start: 201233443
Gene end: 201287711
  
Corresponding Affymetrix probe sets: 1553306_at (Human Genome U133 Plus 2.0 Array)   207686_s_at (Human Genome U133 Plus 2.0 Array)   213373_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000390346
Ensembl peptide - ENSP00000388306
Ensembl peptide - ENSP00000390641
Ensembl peptide - ENSP00000412523
Ensembl peptide - ENSP00000407378
Ensembl peptide - ENSP00000397528
Ensembl peptide - ENSP00000396869
Ensembl peptide - ENSP00000394434
Ensembl peptide - ENSP00000391709
Ensembl peptide - ENSP00000264274
Ensembl peptide - ENSP00000264275
Ensembl peptide - ENSP00000325722
Ensembl peptide - ENSP00000351273
Ensembl peptide - ENSP00000376087
Ensembl peptide - ENSP00000376091
Ensembl peptide - ENSP00000376094
NCBI entrez gene - 841     See in Manteia.
OMIM - 601763
RefSeq - XM_011511969
RefSeq - NM_033355
RefSeq - NM_033356
RefSeq - NM_033358
RefSeq - XM_005246885
RefSeq - XM_005246886
RefSeq - XM_005246887
RefSeq - XM_005246888
RefSeq - XM_005246889
RefSeq - XM_005246890
RefSeq - XM_005246891
RefSeq - XM_005246892
RefSeq - XM_005246893
RefSeq - XM_005246894
RefSeq - XM_005246895
RefSeq - XM_006712789
RefSeq - XM_006712790
RefSeq - XM_006712793
RefSeq - NM_001080124
RefSeq - NM_001080125
RefSeq - NM_001228
RefSeq Peptide - NP_203520
RefSeq Peptide - NP_203522
RefSeq Peptide - NP_001219
RefSeq Peptide - NP_203519
RefSeq Peptide - NP_001073593
RefSeq Peptide - NP_001073594
swissprot - F8WF39
swissprot - H7BZM4
swissprot - E7EVN1
swissprot - Q14790
swissprot - A0A024R3Z8
swissprot - H7C0E2
swissprot - E7ETB7
swissprot - E7EQ06
swissprot - E7EQ01
swissprot - C9JB29
swissprot - A0A0A0MS31
Ensembl - ENSG00000064012
  
Related genetic diseases (OMIM): 114480 - {Breast cancer, protection against}, 114480
  114550 - Hepatocellular carcinoma, somatic, 114550
  211980 - {Lung cancer, protection against}, 211980
  607271 - ?Autoimmune lymphoproliferative syndrome, type IIB, 607271
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 casp8ENSDARG00000058325Danio rerio
 CASP8ENSGALG00000008355Gallus gallus
 Casp8ENSMUSG00000026029Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CASP10 / Q92851 / caspase 10ENSG0000000340034
CASP7 / P55210 / caspase 7ENSG0000016580620
CASP9 / P55211 / caspase 9ENSG0000013290620
CASP2 / P42575 / caspase 2ENSG0000010614419
CASP6 / P55212 / caspase 6ENSG0000013879418
CASP3 / P42574 / caspase 3ENSG0000016430518
CASP14 / P31944 / caspase 14ENSG0000010514113


Protein motifs (from Interpro)
Interpro ID Name
 IPR001309  Peptidase C14, p20 domain
 IPR001875  Death effector domain
 IPR002138  Peptidase C14, caspase non-catalytic subunit p10
 IPR011029  Death-like domain superfamily
 IPR015917  Peptidase C14A, caspase catalytic domain
 IPR016129  Peptidase family C14A, His active site
 IPR029030  Caspase-like domain superfamily
 IPR033139  Peptidase family C14A, cysteine active site
 IPR033170  Caspase-8


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS
 biological_processGO:0007166 cell surface receptor signaling pathway TAS
 biological_processGO:0009409 response to cold IEA
 biological_processGO:0010803 regulation of tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030101 natural killer cell activation TAS
 biological_processGO:0030225 macrophage differentiation TAS
 biological_processGO:0032025 response to cobalt ion IEA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0034138 toll-like receptor 3 signaling pathway TAS
 biological_processGO:0034612 response to tumor necrosis factor IMP
 biological_processGO:0035666 TRIF-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0036462 TRAIL-activated apoptotic signaling pathway IDA
 biological_processGO:0039650 suppression by virus of host cysteine-type endopeptidase activity involved in apoptotic process TAS
 biological_processGO:0042110 T cell activation TAS
 biological_processGO:0042113 B cell activation TAS
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045651 positive regulation of macrophage differentiation IMP
 biological_processGO:0045862 positive regulation of proteolysis IDA
 biological_processGO:0046677 response to antibiotic IEA
 biological_processGO:0051603 proteolysis involved in cellular protein catabolic process IMP
 biological_processGO:0060544 regulation of necroptotic process TAS
 biological_processGO:0060715 syncytiotrophoblast cell differentiation involved in labyrinthine layer development TAS
 biological_processGO:0070423 nucleotide-binding oligomerization domain containing signaling pathway TAS
 biological_processGO:0071260 cellular response to mechanical stimulus IEP
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0071550 death-inducing signaling complex assembly TAS
 biological_processGO:0097190 apoptotic signaling pathway IMP
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IDA
 biological_processGO:0097194 execution phase of apoptosis IMP
 biological_processGO:0097202 activation of cysteine-type endopeptidase activity IDA
 biological_processGO:0097296 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway TAS
 biological_processGO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
 biological_processGO:1901216 positive regulation of neuron death IEA
 biological_processGO:1902041 regulation of extrinsic apoptotic signaling pathway via death domain receptors TAS
 biological_processGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005741 mitochondrial outer membrane TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton TAS
 cellular_componentGO:0031264 death-inducing signaling complex IDA
 cellular_componentGO:0031265 CD95 death-inducing signaling complex IDA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0044297 cell body IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0097342 ripoptosome IDA
 molecular_functionGO:0004197 cysteine-type endopeptidase activity IEA
 molecular_functionGO:0005123 death receptor binding IEA
 molecular_functionGO:0005164 tumor necrosis factor receptor binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008233 peptidase activity IDA
 molecular_functionGO:0008234 cysteine-type peptidase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0035877 death effector domain binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0097110 scaffold protein binding IPI
 molecular_functionGO:0097153 cysteine-type endopeptidase activity involved in apoptotic process IMP
 molecular_functionGO:0097199 cysteine-type endopeptidase activity involved in apoptotic signaling pathway IMP
 molecular_functionGO:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosis IBA


Pathways (from Reactome)
Pathway description
Apoptotic cleavage of cellular proteins
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001413 Micronodular cirrhosis 
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 HP:0001425 Heterogeneous 
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 HP:0001428 Somatic mutation 
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 HP:0001508 Failure to thrive 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0002028 Chronic diarrhea 
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 HP:0002090 Pneumonia 
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 HP:0002099 Asthma "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0005384 Defective B cell activation 
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 HP:0005419 Decreased T cell activation 
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 HP:0005425 Recurrent sinopulmonary infections 
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 HP:0006572 Subacute progressive viral hepatitis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000104689 O00220 / TNFRSF10A / TNF receptor superfamily member 10a  / reaction / complex
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / complex / reaction
 ENSG00000121858 P50591 / TNFSF10 / TNF superfamily member 10  / reaction / complex
 ENSG00000127666 Q8IUC6 / TICAM1 / toll like receptor adaptor molecule 1  / complex / reaction
 ENSG00000168040 FADD / Q13158 / Fas associated via death domain  / reaction / complex
 ENSG00000137275 RIPK1 / Q13546 / receptor interacting serine/threonine kinase 1  / complex / reaction
 ENSG00000178209 PLEC / Q15149 / plectin  / reaction
 ENSG00000088888 MAVS / Q7Z434 / mitochondrial antiviral signaling protein  / complex / reaction
 ENSG00000003402 CFLAR / O15519 / CASP8 and FADD like apoptosis regulator  / complex / reaction
 ENSG00000026025 VIM / P08670 / vimentin  / reaction
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / complex / reaction
 ENSG00000117560 FASLG / P48023 / Fas ligand  / reaction / complex
 ENSG00000115267 IFIH1 / Q9BYX4 / interferon induced with helicase C domain 1  / complex / reaction
 ENSG00000106100 NOD1 / Q9Y239 / nucleotide binding oligomerization domain containing 1  / reaction / complex
 ENSG00000120889 O14763 / TNFRSF10B / TNF receptor superfamily member 10b  / reaction / complex
 ENSG00000213341 CHUK / O15111 / conserved helix-loop-helix ubiquitous kinase  / complex / reaction
 ENSG00000107201 DDX58 / O95786 / DExD/H-box helicase 58  / complex / reaction
 ENSG00000125538 IL1B / P01584 / interleukin 1 beta  / reaction
 ENSG00000026103 FAS / P25445 / Fas cell surface death receptor  / reaction / complex
 ENSG00000121060 Q14258 / TRIM25 / tripartite motif containing 25  / complex / reaction
 ENSG00000015475 BID / P55957 / BH3 interacting domain death agonist  / reaction
 ENSG00000103490 PYCARD / Q9ULZ3 / PYD and CARD domain containing  / complex / reaction
 ENSG00000185825 BCAP31 / P51572 / B cell receptor associated protein 31  / reaction
 ENSG00000181481 Q8IUD6 / RNF135 / ring finger protein 135  / complex / reaction
 ENSG00000003400 CASP10 / Q92851 / caspase 10  / complex / reaction
 ENSG00000104365 IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit beta  / complex / reaction
 ENSG00000164342 TLR3 / O15455 / toll like receptor 3  / complex / reaction
 ENSG00000064012 CASP8 / Q14790 / caspase 8  / reaction / complex
 ENSG00000170458 CD14 / P08571 / CD14 molecule  / reaction / complex
 ENSG00000154589 LY96 / Q9Y6Y9 / lymphocyte antigen 96  / reaction / complex
 ENSG00000136869 TLR4 / O00206 / toll like receptor 4  / complex / reaction
 ENSG00000102871 TRADD / Q15628 / TNFRSF1A associated via death domain  / reaction / complex
 ENSG00000172175 MALT1 / Q9UDY8 / MALT1 paracaspase  / reaction / complex
 ENSG00000243414 Q86XR7 / TICAM2 / toll like receptor adaptor molecule 2  / reaction / complex






 

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