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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FADD
Fas associated via death domain
Chromosome 11 · 11q13.3
NCBI Gene: 8772Ensembl: ENSG00000168040.6HGNC: HGNC:3573UniProt: Q13158
360PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisHub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
apoptotic signaling pathwayprotein bindingprotein-macromolecule adaptor activitytumor necrosis factor receptor superfamily bindingFADD-related immunodeficiencycongenital heart malformationgenetic disorderdiverticular disease
✦AI Summary

FADD (Fas Associated via Death Domain) is a critical apoptotic adapter protein that mediates death receptor signaling pathways. Its primary function involves recruiting caspases CASP8 or CASP10 to activated death receptors such as FAS/CD95 or TNFRSF1A/TNFR-1, forming the death-inducing signaling complex (DISC) that enables caspase-8 proteolytic activation and subsequent apoptotic cascades 1. FADD operates through two distinct TNF-α-induced caspase-8 activation pathways: one involving cycloheximide-mediated elimination of c-FLIP inhibitor, and another through RIPK1-FADD-caspase-8 complex formation triggered by Smac mimetics 2. In TNFR1 signaling, FADD participates in a sequential two-complex mechanism where it forms a cytoplasmic complex (complex II) with TRADD, RIP1, and caspase-8, determining cell fate based on NF-κB activation status 3. Beyond apoptosis, FADD exhibits non-apoptotic functions in cellular proliferation and activation, likely regulated by phosphorylation 4. In hepatocellular carcinoma, phosphorylated FADD translocates to the nucleus and upregulates CCL5 transcription via NF-κB, promoting CD8+ T-cell recruitment and enhancing immune checkpoint inhibitor sensitivity 5. Disease relevance includes autoimmune lymphoproliferative syndrome (ALPS) when germline FADD mutations combine with somatic loss of heterozygosity 1, and FIRES (febrile infection-related epilepsy syndrome) caused by homozygous pathogenic variants 6.

Sources cited
1
FADD recruits caspases to death receptors forming DISC, and germline/somatic mutations cause ALPS
PMID: 37793571
2
TNF-α induces two distinct caspase-8 activation pathways involving FADD
PMID: 18485876
3
FADD participates in sequential two-complex TNFR1 signaling mechanism
PMID: 12887920
4
FADD has non-apoptotic roles in proliferation and activation, regulated by phosphorylation
PMID: 15545216
5
Phosphorylated FADD promotes CCL5 transcription and CD8+ T-cell recruitment in HCC
PMID: 40658608
6
Homozygous FADD pathogenic variants cause FIRES syndrome
PMID: 38752438
Disease Associationsⓘ21
FADD-related immunodeficiencyOpen Targets
0.69Moderate
congenital heart malformationOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.42Moderate
diverticular diseaseOpen Targets
0.25Weak
hepatocellular carcinomaOpen Targets
0.21Weak
lung adenocarcinomaOpen Targets
0.21Weak
head and neck squamous cell carcinomaOpen Targets
0.21Weak
clear cell renal carcinomaOpen Targets
0.19Weak
gastric carcinomaOpen Targets
0.19Weak
colorectal adenocarcinomaOpen Targets
0.19Weak
gastric adenocarcinomaOpen Targets
0.19Weak
squamous cell lung carcinomaOpen Targets
0.19Weak
cervical squamous cell carcinomaOpen Targets
0.19Weak
colon adenocarcinomaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
cutaneous melanomaOpen Targets
0.19Weak
esophageal adenocarcinomaOpen Targets
0.19Weak
pancreatic ductal adenocarcinomaOpen Targets
0.19Weak
Duodenal AdenocarcinomaOpen Targets
0.18Weak
Hepatobiliary NeoplasmOpen Targets
0.18Weak
Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformationsUniProt
Pathogenic Variants2
NM_003824.4(FADD):c.315T>G (p.Cys105Trp)Likely pathogenic
FADD-related immunodeficiency
★☆☆☆→ Residue 105
NM_003824.4(FADD):c.52_58del (p.Ser17_Ser18insTer)Pathogenic
FADD-related immunodeficiency
☆☆☆☆2021→ Residue 17
View on ClinVar ↗
Related Genes
AK2Protein interaction100%BIRC2Protein interaction100%BIRC3Protein interaction100%BIDProtein interaction100%CASP1Protein interaction100%CASP2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
52%
Lung
47%
Ovary
35%
Heart
20%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
FADDAK2BIRC2BIRC3BIDCASP1CASP2
PROTEIN STRUCTURE
Preparing viewer…
PDB6ACI · 1.87 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.72LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.75 [0.34–1.72]
RankingsWhere FADD stands among ~20K protein-coding genes
  • #857of 20,598
    Most Researched360 · top 5%
  • #4,208of 5,498
    Most Pathogenic Variants2
  • #16,172of 17,882
    Most Constrained (LOEUF)1.72
Genes detectedFADD
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
TNF-alpha induces two distinct caspase-8 activation pathways.
PMID: 18485876
Cell · 2008
1.00
2
Induction of TNF receptor I-mediated apoptosis via two sequential signaling complexes.
PMID: 12887920
Cell · 2003
0.90
3
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
PMID: 37793571
J Allergy Clin Immunol · 2024
0.80
4
PMID: 40838879
Proc Natl Acad Sci U S A · 2025
0.72
5
FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review.
PMID: 38752438
Epilepsia · 2024
0.70