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Aliases for FADD Gene

Aliases for FADD Gene

  • Fas Associated Via Death Domain 2 3 5
  • Fas-Associating Death Domain-Containing Protein 2 3 4
  • Growth-Inhibiting Gene 3 Protein 2 3 4
  • Fas-Associating Protein With Death Domain 2 3
  • Fas (TNFRSF6)-Associated Via Death Domain 2 3
  • Mediator Of Receptor-Induced Toxicity 2 3
  • MORT1 3 4
  • Mediator Of Receptor Induced Toxicity 4
  • FAS-Associated Death Domain Protein 3
  • 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 Dimerization of procaspase-8 and TNFR1 Pathway. GO annotations related to this gene include identical protein binding and protease binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for FADD Gene

Genomics for FADD Gene

Regulatory Elements for FADD Gene

Enhancers for FADD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H069292 2 FANTOM5 Ensembl ENCODE dbSUPER 28.9 -904.6 -904557 11 HDGF PKNOX1 ARID4B SIN3A YBX1 FEZF1 ZBTB7B ZNF766 ZNF143 ZNF207 ORAOV1 PPP6R3 ENSG00000260808 TPCN2 FADD IGHMBP2 LRP5 ANO1 MRGPRF-AS1 MRGPRF
GH11H069947 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -254.0 -253977 3 PKNOX1 ZNF2 ZBTB7B TCF12 ZNF766 CBX5 GATA2 ATF7 FOS DEK FADD ENSG00000254721 ANO1 ANO1-AS1 ENSG00000260679 ENSG00000255191
GH11H070232 1.3 FANTOM5 ENCODE 14.2 +30.6 30593 1 HDGF PKNOX1 SIN3A ZBTB7B GATA2 ATF7 FOS DEK ZNF592 SREBF1 PPFIA1 CTTN FADD ENSG00000254721 LOC105369373 ANO1-AS1 ENSG00000246889 ANO1 GC11M070237 GC11P070210
GH11H069434 1.5 Ensembl ENCODE dbSUPER 11.4 -766.9 -766886 4 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZBTB7B ZNF766 SP5 ZNF592 NFIL3 PPP6R3 ENSG00000260808 TPCN2 ORAOV1 FADD MRGPRF PPFIA1 ENSG00000255606 LOC102724265
GH11H070396 1.5 FANTOM5 ENCODE 11.3 +195.9 195916 4 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF766 PPFIA1 ORAOV1 FADD CTTN ANO1 ENSG00000246889 GC11P070444
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FADD on UCSC Golden Path with GeneCards custom track

Promoters for FADD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000041471 537 1801 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS DEK

Genomic Location for FADD Gene

Chromosome:
11
Start:
70,203,163 bp from pter
End:
70,207,402 bp from pter
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).

    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

  • Cell Signaling Technology (CST) Antibodies for FADD (FADD)
  • Abcam antibodies for FADD

Assay Products

  • Cloud-Clone Corp. Assay Kits for FADD
  • Abcam assays 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

Suggested Antigen Peptide Sequences for FADD Gene

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

GENATLAS Biochemistry:
Fas-associated DEATH domain protein (FADD/MORT1),23kDa,intracellular mediator of lymphocyte apoptosis,associating with the DEATH domain of TNFRSF6 and CASP8
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.

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 IPI,IEA 9208847
GO:0005123 death receptor binding IEA --
GO:0005164 tumor necrosis factor receptor binding IEA --
GO:0005515 protein binding IPI 7536190
GO:0032403 protein complex binding IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FADD
  • Applied Biological Materials Clones for FADD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 2
golgi apparatus 2
cytoskeleton 1
endoplasmic reticulum 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 IEA,IDA 22510408
GO:0005829 cytosol TAS,IDA --
GO:0005886 plasma membrane IDA 22510408
GO:0031264 death-inducing signaling complex IEA,TAS 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

SuperPathway Contained pathways
1 TNFR1 Pathway
2 Dimerization of procaspase-8
3 Activated TLR4 signalling
4 Apoptosis Modulation and Signaling
.41
.33
5 RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
genes like me logo Genes that share pathways with FADD: view

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:0001916 positive regulation of T cell mediated cytotoxicity ISS --
GO:0002376 immune system process IEA --
GO:0002821 positive regulation of adaptive immune response IEA,ISS --
GO:0006915 apoptotic process IMP 22891283
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
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 :
(9) Additional mRNA sequences :
(318) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FADD Gene

Fas (TNFRSF6)-associated via death domain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FADD
  • Applied Biological Materials Clones for FADD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for FADD Gene

GeneLoc Exon Structure for
FADD
ECgene alternative splicing isoforms for
FADD

Expression for FADD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for FADD Gene



Protein tissue co-expression partners for FADD Gene

NURSA nuclear receptor signaling pathways regulating expression of FADD Gene:

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)
  • Intestine(2.5)
  • Blood(2.4)
  • 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
Organs:
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

Primer Products

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 33 34
  • 98.88 (n)
cow
(Bos Taurus)
Mammalia FADD 33 34
  • 76.86 (n)
mouse
(Mus musculus)
Mammalia Fadd 33 16 34
  • 75.98 (n)
rat
(Rattus norvegicus)
Mammalia Fadd 33
  • 75.24 (n)
dog
(Canis familiaris)
Mammalia FADD 34
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FADD 34
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves FADD 34 33
  • 55.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FADD 34
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fadd 33
  • 56.21 (n)
zebrafish
(Danio rerio)
Actinopterygii fadd 33 34
  • 50 (n)
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)

Paralogs for FADD Gene

No data available for Paralogs for FADD Gene

Variants for FADD Gene

Sequence variations from dbSNP and Humsavar for FADD Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs387906839 Pathogenic, Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] 70,206,161(+) ATATG(G/T)GATAA reference, missense
rs369869993 Likely pathogenic 70,206,159(+) TCATA(C/T)GTGAT reference, missense
rs863224871 Likely pathogenic 70,203,511(+) CGAGC(-/AGCGAGC)TGACC reference, frameshift-variant
rs1000170791 -- 70,203,658(+) AGCTG(C/T)TCGCC reference, missense
rs1000441004 -- 70,205,982(+) CCTTT(A/G)CTGCC intron-variant

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)

Relevant External Links for FADD Gene

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

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

Disorders for FADD Gene

MalaCards: The human disease database

(9) MalaCards diseases for FADD Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
  • recurrent infections, encephalopathy, hepatic dysfunction and cardiovascular malformations
otodental dysplasia
  • 11q13.3 deletion syndrome
autoimmune lymphoproliferative syndrome
  • autoimmune lymphoproliferative syndrome, type ib
oral cavity cancer
  • malignant neoplasm of anterior portion of floor of mouth
alzheimer disease mitochondrial
  • ad-mt
- 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.

Relevant External Links for FADD

Genetic Association Database (GAD)
FADD
Human Genome Epidemiology (HuGE) Navigator
FADD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FADD
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 22 60
  2. 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 22 60
  3. PED/PEA-15: an anti-apoptotic molecule that regulates FAS/TNFR1-induced apoptosis. (PMID: 10442631) Condorelli G … Beguinot F (Oncogene 1999) 3 4 22 60
  4. NMR structure and mutagenesis of the FADD (Mort1) death-effector domain. (PMID: 9582077) Eberstadt M … Fesik SW (Nature 1998) 3 4 22 60
  5. A novel protein that interacts with the death domain of Fas/APO1 contains a sequence motif related to the death domain. (PMID: 7536190) Boldin MP … Wallach D (The Journal of biological chemistry 1995) 2 3 4 60

Products for FADD Gene

  • Addgene plasmids for FADD

Sources for FADD Gene

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