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 factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these recepto... See more...

Aliases for FADD Gene

Aliases for FADD Gene

  • Fas Associated Via Death Domain 2 3 5
  • Growth-Inhibiting Gene 3 Protein 2 3 4
  • Fas-Associating Death Domain-Containing Protein 2 3
  • Fas (TNFRSF6)-Associated Via Death Domain 2 3
  • Fas-Associating Protein With Death Domain 2 3
  • Mediator Of Receptor-Induced Toxicity 2 3
  • FAS-Associated Death Domain Protein 3 4
  • MORT1 3 4
  • FAS-Associating Death Domain-Containing Protein 4
  • Mediator Of Receptor Induced Toxicity 4
  • Protein FADD 4
  • GIG3 3

External Ids for FADD Gene

Previous GeneCards Identifiers for FADD Gene

  • GC11P072381
  • GC11P071572
  • GC11P070271
  • GC11P069775
  • GC11P069726
  • GC11P070049
  • GC11P066308

Summaries for FADD Gene

Entrez Gene Summary for FADD Gene

  • 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 factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]

GeneCards Summary for FADD Gene

FADD (Fas Associated Via Death Domain) is a Protein Coding gene. Diseases associated with FADD include Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations and Otodental Dysplasia. Among its related pathways are Apoptosis and survival Caspase cascade and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include identical protein binding and protease binding.

UniProtKB/Swiss-Prot Summary for FADD Gene

  • Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling.

Gene Wiki entry for FADD Gene

Additional gene information for FADD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FADD Gene

Genomics for FADD Gene

GeneHancer (GH) Regulatory Elements for FADD Gene

Promoters and enhancers for FADD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FADD on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FADD

Top Transcription factor binding sites by QIAGEN in the FADD gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • FOXO1
  • FOXO1a
  • Ik-3

Genomic Locations for FADD Gene

Genomic Locations for FADD Gene
chr11:70,203,163-70,207,402
(GRCh38/hg38)
Size:
4,240 bases
Orientation:
Plus strand
chr11:70,049,269-70,053,508
(GRCh37/hg19)
Size:
4,240 bases
Orientation:
Plus strand

Genomic View for FADD Gene

Genes around FADD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FADD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FADD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FADD Gene

Proteins for FADD Gene

  • Protein details for FADD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13158-FADD_HUMAN
    Recommended name:
    FAS-associated death domain protein
    Protein Accession:
    Q13158
    Secondary Accessions:
    • Q14866
    • Q6IBR4

    Protein attributes for FADD Gene

    Size:
    208 amino acids
    Molecular mass:
    23279 Da
    Quaternary structure:
    • Can self-associate. Interacts with CFLAR, PEA15 and MBD4. When phosphorylated, part of a complex containing HIPK3 and FAS. May interact with MAVS/IPS1. Interacts with MOCV v-CFLAR protein and PIDD1. Interacts (via death domain) with FAS (via death domain). Interacts with CASP8. Interacts directly (via DED domain) with NOL3 (via CARD domain); inhibits death-inducing signaling complex (DISC) assembly by inhibiting the increase in FAS-FADD binding induced by FAS activation (By similarity). Interacts with RIPK1, TRADD and CASP8 (By similarity). Interacts with stimulated TNFRSF10B (PubMed:18846110).
    • (Microbial infection) Interacts with human papillomavirus 16/HPV16 protein E6.
    • (Microbial infection) Interacts with molluscum contagiosum virus proteins MC159L/v-CFLAR and MC160L.

    Three dimensional structures from OCA and Proteopedia for FADD Gene

neXtProt entry for FADD Gene

Post-translational modifications for FADD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FADD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for FADD

No data available for DME Specific Peptides for FADD Gene

Domains & Families for FADD Gene

Gene Families for FADD Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FADD Gene

Blocks:
  • Death domain
  • Death effector protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FADD Gene

GenScript: Design optimal peptide antigens:
  • Mediator of receptor induced toxicity (FADD_HUMAN)
  • FADD protein (Q6LCB0_HUMAN)
  • Fas-associating protein (Q6LCG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13158

UniProtKB/Swiss-Prot:

FADD_HUMAN :
  • Contains a death domain involved in the binding of the corresponding domain within Fas receptor.
Domain:
  • Contains a death domain involved in the binding of the corresponding domain within Fas receptor.
  • The interaction between the FAS and FADD death domains is crucial for the formation of the death-inducing signaling complex (DISC).
genes like me logo Genes that share domains with FADD: view

Function for FADD Gene

Molecular function for FADD Gene

UniProtKB/Swiss-Prot Function:
Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling.
GENATLAS Biochemistry:
Fas-associated DEATH domain protein (FADD/MORT1),23kDa,intracellular mediator of lymphocyte apoptosis,associating with the DEATH domain of TNFRSF6 and CASP8

Phenotypes From GWAS Catalog for FADD Gene

Gene Ontology (GO) - Molecular Function for FADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA,IPI 9208847
GO:0005123 death receptor binding IBA 21873635
GO:0005164 tumor necrosis factor receptor binding IEA --
GO:0005515 protein binding IEA,IPI 7536190
GO:0032813 tumor necrosis factor receptor superfamily binding IPI 21109225
genes like me logo Genes that share ontologies with FADD: view
genes like me logo Genes that share phenotypes with FADD: view

Human Phenotype Ontology for FADD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FADD Gene

MGI Knock Outs for FADD:
  • Fadd Fadd<tm1Mak>
  • Fadd Fadd<tm1e.1(KOMP)Wtsi>
  • Fadd Fadd<tm1Wnt>
  • Fadd Fadd<tm1.1Mpa>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for FADD

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FADD Gene

Localization for FADD Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FADD gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
nucleus 4
mitochondrion 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA,IEA 22510408
GO:0005829 cytosol TAS,IDA --
GO:0005886 plasma membrane IDA 22510408
GO:0031264 death-inducing signaling complex TAS,IEA 18309324
genes like me logo Genes that share ontologies with FADD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FADD Gene

Pathways & Interactions for FADD Gene

PathCards logo

SuperPathways for FADD Gene

SuperPathway Contained pathways
1 TNFR1 Pathway
.87
.87
.56
.55
.52
.42
.42
.40
.35
2 Dimerization of procaspase-8
3 Activated TLR4 signalling
4 Apoptosis Modulation and Signaling
.41
.35
.31
5 Toll-like Receptor Signaling Pathway
genes like me logo Genes that share pathways with FADD: view

Pathways by source for FADD Gene

2 Sino Biological pathways for FADD Gene
4 GeneGo (Thomson Reuters) pathways for FADD Gene
  • Apoptosis and survival Apoptotic TNF-family pathways
  • Apoptosis and survival Caspase cascade
  • Apoptosis and survival FAS signaling cascades
  • Apoptosis and survival TNFR1 signaling pathway
23 Qiagen pathways for FADD Gene
  • 14-3-3 Induced Apoptosis
  • all-trans-Retinoic Acid Mediated Apoptosis
  • Apoptosis through Death Receptors
  • Apoptotic Pathways in Synovial Fibroblasts
  • Apoptotic Pathways Triggered By HIV1
1 Cell Signaling Technology pathway for FADD Gene
3 GeneTex pathways for FADD Gene

SIGNOR curated interactions for FADD Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0001916 positive regulation of T cell mediated cytotoxicity IEA,ISS --
GO:0002376 immune system process IEA --
GO:0002821 positive regulation of adaptive immune response IEA,ISS --
GO:0006915 apoptotic process IMP 22891283
genes like me logo Genes that share ontologies with FADD: view

Drugs & Compounds for FADD Gene

(16) Drugs for FADD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for FADD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FADD: view

Transcripts for FADD Gene

mRNA/cDNA for FADD Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for FADD

Alternative Splicing Database (ASD) splice patterns (SP) for FADD Gene

No ASD Table

Relevant External Links for FADD Gene

GeneLoc Exon Structure for
FADD

Expression for FADD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FADD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FADD Gene

This gene is overexpressed in Whole Blood (x6.0).

Protein differential expression in normal tissues from HIPED for FADD Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (22.0), Bone marrow stromal cell (15.6), and Peripheral blood mononuclear cells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FADD Gene



Protein tissue co-expression partners for FADD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FADD

SOURCE GeneReport for Unigene cluster for FADD Gene:

Hs.86131

mRNA Expression by UniProt/SwissProt for FADD Gene:

Q13158-FADD_HUMAN
Tissue specificity: Expressed in a wide variety of tissues, except for peripheral blood mononuclear leukocytes.

Evidence on tissue expression from TISSUES for FADD Gene

  • Lung(4.6)
  • Heart(4.5)
  • Nervous system(3)
  • Liver(2.6)
  • Skin(2.6)
  • Blood(2.5)
  • Intestine(2.5)
  • Kidney(2.4)
  • Pancreas(2.4)
  • Spleen(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FADD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
Thorax:
  • heart
  • lung
Abdomen:
  • liver
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with FADD: view

Orthologs for FADD Gene

This gene was present in the common ancestor of chordates.

Orthologs for FADD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FADD 31 30
  • 98.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FADD 31 30
  • 76.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fadd 17 31 30
  • 75.98 (n)
rat
(Rattus norvegicus)
Mammalia Fadd 30
  • 75.24 (n)
dog
(Canis familiaris)
Mammalia FADD 31
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FADD 31
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves FADD 31 30
  • 55.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FADD 31
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fadd 30
  • 56.21 (n)
zebrafish
(Danio rerio)
Actinopterygii fadd 31 30
  • 50 (n)
OneToOne
Species where no ortholog for FADD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FADD Gene

ENSEMBL:
Gene Tree for FADD (if available)
TreeFam:
Gene Tree for FADD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FADD: view image

Paralogs for FADD Gene

No data available for Paralogs for FADD Gene

Variants for FADD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FADD Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
640000 Uncertain Significance: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 70,206,152(+) C/G MISSENSE_VARIANT
659707 Uncertain Significance: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 70,206,153(+) G/A MISSENSE_VARIANT
662236 Uncertain Significance: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 70,206,285(+) A/G MISSENSE_VARIANT
713705 Benign: not provided 70,203,468(+) G/T SYNONYMOUS_VARIANT
742721 Likely Benign: not provided 70,203,570(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FADD Gene

Structural Variations from Database of Genomic Variants (DGV) for FADD Gene

Variant ID Type Subtype PubMed ID
esv3366497 CNV insertion 20981092
nsv555376 CNV loss 21841781

Variation tolerance for FADD Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FADD Gene

Human Gene Mutation Database (HGMD)
FADD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FADD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FADD Gene

Disorders for FADD Gene

MalaCards: The human disease database

(19) MalaCards diseases for FADD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FADD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FADD_HUMAN
  • Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759]: A condition with biological features of autoimmune lymphoproliferative syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell counts, and elevated IL10 and FASL levels. Affected individuals suffer from recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction sometimes accompanied by generalized seizures. The episodes can be triggered by varicella zoster virus (VZV), measles mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and Epstein-Barr virus (EBV). {ECO:0000269 PubMed:21109225}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FADD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FADD: view

No data available for Genatlas for FADD Gene

Publications for FADD Gene

  1. The Fas-FADD death domain complex structure unravels signalling by receptor clustering. (PMID: 19118384) Scott FL … Riedl SJ (Nature 2009) 3 4 23 54
  2. The interaction between human papillomavirus type 16 and FADD is mediated by a novel E6 binding domain. (PMID: 18632871) Tungteakkhun SS … Duerksen-Hughes PJ (Journal of virology 2008) 3 4 23 54
  3. Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosis. (PMID: 12702765) Screaton RA … Frisch SM (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23 54
  4. PED/PEA-15: an anti-apoptotic molecule that regulates FAS/TNFR1-induced apoptosis. (PMID: 10442631) Condorelli G … Beguinot F (Oncogene 1999) 3 4 23 54
  5. NMR structure and mutagenesis of the FADD (Mort1) death-effector domain. (PMID: 9582077) Eberstadt M … Fesik SW (Nature 1998) 3 4 23 54

Products for FADD Gene

  • Signalway ELISA kits for FADD
  • Signalway Proteins for FADD

Sources for FADD Gene