ENSG00000168040


Homo sapiens

Features
Gene ID: ENSG00000168040
  
Biological name :FADD
  
Synonyms : FADD / Fas associated via death domain / Q13158
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.3
Gene start: 70203163
Gene end: 70207390
  
Corresponding Affymetrix probe sets: 202535_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000301838
NCBI entrez gene - 8772     See in Manteia.
OMIM - 602457
RefSeq - NM_003824
RefSeq Peptide - NP_003815
swissprot - Q13158
Ensembl - ENSG00000168040
  
Related genetic diseases (OMIM): 613759 - Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759
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
 faddENSDARG00000103021Danio rerio
 FADDENSGALG00000007625Gallus gallus
 FaddENSMUSG00000031077Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000488  Death domain
 IPR001875  Death effector domain
 IPR011029  Death-like domain superfamily
 IPR016729  FADD


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001916 positive regulation of T cell mediated cytotoxicity IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002821 positive regulation of adaptive immune response IEA
 biological_processGO:0006915 apoptotic process IMP
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007166 cell surface receptor signaling pathway TAS
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0032729 positive regulation of interferon-gamma production IEA
 biological_processGO:0032757 positive regulation of interleukin-8 production IDA
 biological_processGO:0032760 positive regulation of tumor necrosis factor production IDA
 biological_processGO:0033077 T cell differentiation in thymus IEA
 biological_processGO:0034138 toll-like receptor 3 signaling pathway TAS
 biological_processGO:0035666 TRIF-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0036462 TRAIL-activated apoptotic signaling pathway IDA
 biological_processGO:0042104 positive regulation of activated T cell proliferation IEA
 biological_processGO:0042220 response to cocaine IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043029 T cell homeostasis IEA
 biological_processGO:0043065 positive regulation of apoptotic process IMP
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
 biological_processGO:0043278 response to morphine IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045651 positive regulation of macrophage differentiation IMP
 biological_processGO:0045862 positive regulation of proteolysis IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0048148 behavioral response to cocaine IEA
 biological_processGO:0048535 lymph node development IEA
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0051607 defense response to virus IMP
 biological_processGO:0060340 positive regulation of type I interferon-mediated signaling pathway IMP
 biological_processGO:0060544 regulation of necroptotic process IEA
 biological_processGO:0060546 negative regulation of necroptotic process IEA
 biological_processGO:0070236 negative regulation of activation-induced cell death of T cells IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEP
 biological_processGO:0071550 death-inducing signaling complex assembly TAS
 biological_processGO:0097049 motor neuron apoptotic process IEA
 biological_processGO:0097190 apoptotic signaling pathway IDA
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IEA
 biological_processGO:0097192 extrinsic apoptotic signaling pathway in absence of ligand IEA
 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:0097527 necroptotic signaling pathway IMP
 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
 biological_processGO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
 biological_processGO:2000454 positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation IEA
 biological_processGO:2001238 positive regulation of extrinsic apoptotic signaling pathway IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0031264 death-inducing signaling complex IEA
 cellular_componentGO:0031265 CD95 death-inducing signaling complex IEA
 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:0002020 protease binding IEA
 molecular_functionGO:0005123 death receptor binding IEA
 molecular_functionGO:0005164 tumor necrosis factor receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0032813 tumor necrosis factor receptor superfamily binding IPI
 molecular_functionGO:0033612 receptor serine/threonine kinase binding IEA
 molecular_functionGO:0035877 death effector domain binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0089720 caspase binding IPI


Pathways (from Reactome)
Pathway description
via Death Receptors in the presence of ligand
TRIF-mediated programmed cell death
Regulation by c-FLIP
RIPK1-mediated regulated necrosis
CASP8 activity is inhibited
TNFR1-induced proapoptotic signaling
Dimerization of procaspase-8
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: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:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001298 Encephalopathy 
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 HP:0001395 Hepatic fibrosis 
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 HP:0001410 Decreased liver function 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0002059 Cerebral atrophy 
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 HP:0002719 Recurrent infections 
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 HP:0004935 Pulmonary artery atresia 
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 HP:0030057 Autoimmune antibody positivity "The presence of an antibody directed against the organism s own cells or tissues." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / reaction / complex
 ENSG00000127666 Q8IUC6 / TICAM1 / toll like receptor adaptor molecule 1  / reaction / complex
 ENSG00000064012 CASP8 / Q14790 / caspase 8  / reaction / complex
 ENSG00000137275 RIPK1 / Q13546 / receptor interacting serine/threonine kinase 1  / complex / reaction
 ENSG00000115267 IFIH1 / Q9BYX4 / interferon induced with helicase C domain 1  / complex / reaction
 ENSG00000003400 CASP10 / Q92851 / caspase 10  / reaction / complex
 ENSG00000003402 CFLAR / O15519 / CASP8 and FADD like apoptosis regulator  / reaction / complex
 ENSG00000164342 TLR3 / O15455 / toll like receptor 3  / reaction / complex
 ENSG00000120889 O14763 / TNFRSF10B / TNF receptor superfamily member 10b  / reaction / complex
 ENSG00000104689 O00220 / TNFRSF10A / TNF receptor superfamily member 10a  / reaction / complex
 ENSG00000104365 IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit beta  / reaction / complex
 ENSG00000168040 FADD / Q13158 / Fas associated via death domain  / complex / reaction
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / reaction / complex
 ENSG00000121858 P50591 / TNFSF10 / TNF superfamily member 10  / complex / reaction
 ENSG00000088888 MAVS / Q7Z434 / mitochondrial antiviral signaling protein  / complex / reaction
 ENSG00000213341 CHUK / O15111 / conserved helix-loop-helix ubiquitous kinase  / reaction / complex
 ENSG00000170458 CD14 / P08571 / CD14 molecule  / complex / reaction
 ENSG00000026103 FAS / P25445 / Fas cell surface death receptor  / reaction / complex
 ENSG00000154589 LY96 / Q9Y6Y9 / lymphocyte antigen 96  / complex / reaction
 ENSG00000181481 Q8IUD6 / RNF135 / ring finger protein 135  / reaction / complex
 ENSG00000121060 Q14258 / TRIM25 / tripartite motif containing 25  / reaction / complex
 ENSG00000117560 FASLG / P48023 / Fas ligand  / complex / reaction
 ENSG00000136869 TLR4 / O00206 / toll like receptor 4  / complex / reaction
 ENSG00000102871 TRADD / Q15628 / TNFRSF1A associated via death domain  / reaction / complex
 ENSG00000107201 DDX58 / O95786 / DExD/H-box helicase 58  / reaction / complex
 ENSG00000243414 Q86XR7 / TICAM2 / toll like receptor adaptor molecule 2  / complex / reaction






 

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