Gene Gene information from NCBI Gene database.
Entrez ID 8772
Gene name Fas associated via death domain
Gene symbol FADD
Synonyms (NCBI Gene)
GIG3IMD90MORT1
Chromosome 11
Chromosome location 11q13.3
Summary The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis fact
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs369869993 T>C Likely-pathogenic Missense variant, coding sequence variant
rs387906839 T>G Pathogenic Missense variant, coding sequence variant
rs863224871 AGCGAGC>- Likely-pathogenic Stop gained, coding sequence variant
rs1392069885 G>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
110
miRTarBase ID miRNA Experiments Reference
MIRT000638 hsa-miR-146a-5p Luciferase reporter assay 19965651
MIRT006848 hsa-miR-155-5p GFP reporter assayImmunohistochemistryIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot 21706480
MIRT006848 hsa-miR-155-5p GFP reporter assayImmunohistochemistryIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot 21706480
MIRT023826 hsa-miR-1-3p Microarray 18668037
MIRT025869 hsa-miR-7-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
DEDD Unknown 17193921
RUNX3 Activation 17956589
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
100
GO ID Ontology Definition Evidence Reference
GO:0001819 Process Positive regulation of cytokine production IEA
GO:0001822 Process Kidney development IEA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IEA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity ISS
GO:0002020 Function Protease binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602457 3573 ENSG00000168040
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13158
Protein name FAS-associated death domain protein (FAS-associating death domain-containing protein) (Growth-inhibiting gene 3 protein) (Mediator of receptor induced toxicity)
Protein function Apoptotic adapter molecule that recruits caspases CASP8 or CASP10 to the activated FAS/CD95 or TNFRSF1A/TNFR-1 receptors (PubMed:16762833, PubMed:19118384, PubMed:20935634, PubMed:23955153, PubMed:24025841, PubMed:7538907, PubMed:9184224). The r
PDB 1A1W , 1A1Z , 1E3Y , 1E41 , 2GF5 , 3EZQ , 3OQ9 , 6ACI , 7LXC , 8YBX , 8YD7 , 8YD8 , 8YNI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01335 DED 4 85 Death effector domain Domain
PF00531 Death 98 181 Death domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a wide variety of tissues, except for peripheral blood mononuclear leukocytes. {ECO:0000269|PubMed:7538907}.
Sequence
Sequence length 208
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
FADD-related immunodeficiency Pathogenic; Likely pathogenic rs863224871, rs387906839 RCV001795381
RCV001787029
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 16109772, 35029906
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Associate 28883894
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 39396083
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Associate 35480868
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 10817565
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Inhibit 16951485
★☆☆☆☆
Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Associate 10200300, 33995372
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 16450001, 18840411, 24886289, 27013580, 27388253, 31443698
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Associate 10477698, 21315423
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 27013580
★☆☆☆☆
Found in Text Mining only