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Aliases for FAS Gene

Aliases for FAS Gene

  • Fas Cell Surface Death Receptor 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily, Member 6 2 3
  • Fas (TNF Receptor Superfamily, Member 6) 2 3
  • Apoptosis-Mediating Surface Antigen FAS 3 4
  • TNF Receptor Superfamily Member 6 2 3
  • FASLG Receptor 3 4
  • CD95 Antigen 3 4
  • TNFRSF6 3 4
  • APT1 3 4
  • FAS1 3 4
  • Mutant Tumor Necrosis Receptor Superfamily Member 6 3
  • Tumor Necrosis Factor Receptor Superfamily Member 6 3
  • Apoptosis Signaling Receptor FAS 3
  • APO-1 Cell Surface Antigen 3
  • Apoptosis Antigen 1 3
  • Apo-1 Antigen 4
  • Fas AMA 3
  • ALPS1A 3
  • APO-1 3
  • FASTM 3
  • CD95 3

External Ids for FAS Gene

Previous HGNC Symbols for FAS Gene

  • FAS1
  • APT1
  • TNFRSF6

Previous GeneCards Identifiers for FAS Gene

  • GC10P090741
  • GC10P084384

Summaries for FAS Gene

Entrez Gene Summary for FAS Gene

  • The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]

GeneCards Summary for FAS Gene

FAS (Fas Cell Surface Death Receptor) is a Protein Coding gene. Diseases associated with FAS include Autoimmune Lymphoproliferative Syndrome and Fas-Related Autoimmune Lymphoproliferative Syndrome. Among its related pathways are Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include identical protein binding and receptor activity.

UniProtKB/Swiss-Prot for FAS Gene

  • Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).

Gene Wiki entry for FAS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAS Gene

Genomics for FAS Gene

Regulatory Elements for FAS Gene

Enhancers for FAS 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
GH10F088988 1.3 Ensembl ENCODE 35.6 +23.5 23464 8.7 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF48 BRCA1 ZNF2 YY1 FAS ACTA2 ENSG00000240996 ACTA2-AS1 CH25H FAS-AS1 GC10M088853
GH10F088999 1.2 FANTOM5 Ensembl ENCODE 35 +31.3 31289 3.8 PKNOX1 ATF3 ZNF341 ZNF133 CEBPB FAS CH25H ACTA2-AS1 GC10M088853 FAS-AS1
GH10F089084 1.5 FANTOM5 Ensembl ENCODE 18.8 +116.2 116236 4.1 HDGF PKNOX1 ATF1 NFRKB ZBTB40 ELK1 FOS ZNF263 USF2 CEBPB FAS CH25H LIPA GC10P089071 GC10P089110
GH10F088878 1.6 FANTOM5 Ensembl ENCODE 12.3 -85.6 -85586 10.9 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 STAMBPL1 FAS ACTA2-AS1 RPL11P3 ENSG00000201548 RNLS LIPJ LIPM LIPN ANKRD22
GH10F089030 1.1 Ensembl ENCODE 16.1 +62.2 62210 2.4 ASH2L EBF1 RFX5 RELA ZNF316 SCRT2 FOS NFE2 MAFK NFE2L2 FAS CH25H ACTA2-AS1 ACTA2 GC10P089027 MIR4679-1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAS on UCSC Golden Path with GeneCards custom track

Genomic Location for FAS Gene

Chromosome:
10
Start:
88,969,801 bp from pter
End:
89,017,059 bp from pter
Size:
47,259 bases
Orientation:
Plus strand

Genomic View for FAS Gene

Genes around FAS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FAS Gene

Proteins for FAS Gene

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

    Protein Symbol:
    P25445-TNR6_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 6
    Protein Accession:
    P25445
    Secondary Accessions:
    • A9UJX4
    • B6VNV4
    • Q14292
    • Q14293
    • Q14294
    • Q14295
    • Q16652
    • Q5T9P1
    • Q5T9P2
    • Q5T9P3
    • Q6SSE9

    Protein attributes for FAS Gene

    Size:
    335 amino acids
    Molecular mass:
    37732 Da
    Quaternary structure:
    • Binds DAXX. Interacts with HIPK3. Part of a complex containing HIPK3 and FADD (By similarity). Binds RIPK1 and FAIM2. Interacts with BRE and FEM1B. Interacts with FADD. 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 FAS Gene

    Alternative splice isoforms for FAS Gene

neXtProt entry for FAS Gene

Post-translational modifications for FAS Gene

  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Thr 28, Thr 40, Thr 42, Thr 46, Asn 118, and Asn 136
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for FAS (Fas/TNFRSF6/CD95)
  • Cell Signaling Technology (CST) Antibodies for FAS (FAS)

Protein Products

No data available for DME Specific Peptides for FAS Gene

Domains & Families for FAS Gene

Graphical View of Domain Structure for InterPro Entry

P25445

UniProtKB/Swiss-Prot:

TNR6_HUMAN :
  • Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins.
  • Contains 3 TNFR-Cys repeats.
Domain:
  • Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins.
  • Contains 1 death domain.
Similarity:
  • Contains 3 TNFR-Cys repeats.
genes like me logo Genes that share domains with FAS: view

Function for FAS Gene

Molecular function for FAS Gene

UniProtKB/Swiss-Prot Function:
Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).

Gene Ontology (GO) - Molecular Function for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity TAS 9360929
GO:0004872 receptor activity NAS,TAS 7533181
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005031 tumor necrosis factor-activated receptor activity IBA --
GO:0005515 protein binding IPI 7536190
genes like me logo Genes that share ontologies with FAS: view
genes like me logo Genes that share phenotypes with FAS: view

Human Phenotype Ontology for FAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAS Gene

MGI Knock Outs for FAS:

Animal Model Products

Flow Cytometry Products

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

Localization for FAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAS Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.
Isoform 3: Secreted.
Isoform 4: Secreted.
Isoform 5: Secreted.
Isoform 6: Secreted.

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 FAS gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
mitochondrion 4
cytoskeleton 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol NAS 7533181
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with FAS: view

Pathways & Interactions for FAS Gene

genes like me logo Genes that share pathways with FAS: view

Pathways by source for FAS Gene

SIGNOR curated interactions for FAS Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002377 immunoglobulin production IEA --
GO:0003014 renal system process IEA --
GO:0006461 protein complex assembly TAS 10875918
GO:0006915 apoptotic process IEA,IDA 9681877
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
genes like me logo Genes that share ontologies with FAS: view

Drugs & Compounds for FAS Gene

(89) Drugs for FAS Gene - From: ClinicalTrials, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma 2043
Choline Approved Nutra 148
Fas ligand Pharma 0
Adrenergic Agents Pharma 5140
Anti-Infective Agents Pharma 21402

(72) Additional Compounds for FAS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for FAS Gene

Compound Action Cas Number
Betulinic acid Anti-HIV and antitumor compound,pentacyclic triterpenoid 472-15-1
Fas C- Terminal Tripeptide AC-SER-LEU-VAL-OH 189109-90-8
genes like me logo Genes that share compounds with FAS: view

Transcripts for FAS Gene

Unigene Clusters for FAS Gene

Fas (TNF receptor superfamily, member 6):
Representative Sequences:

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - - - - - - -
SP9: - - - -
SP10:
SP11: - -
SP12: - - -

Relevant External Links for FAS Gene

GeneLoc Exon Structure for
FAS
ECgene alternative splicing isoforms for
FAS

Expression for FAS Gene

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

Protein differential expression in normal tissues from HIPED for FAS Gene

This gene is overexpressed in Adrenal (30.1) and Bone (7.8).

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



Protein tissue co-expression partners for FAS Gene

NURSA nuclear receptor signaling pathways regulating expression of FAS Gene:

FAS

SOURCE GeneReport for Unigene cluster for FAS Gene:

Hs.244139

mRNA Expression by UniProt/SwissProt for FAS Gene:

P25445-TNR6_HUMAN
Tissue specificity: Isoform 1 and isoform 6 are expressed at equal levels in resting peripheral blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the levels of isoform 6.
genes like me logo Genes that share expression patterns with FAS: view

Primer Products

No data available for mRNA differential expression in normal tissues for FAS Gene

Orthologs for FAS Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAS 34 35
  • 99.1 (n)
cow
(Bos Taurus)
Mammalia FAS 34 35
  • 71.21 (n)
dog
(Canis familiaris)
Mammalia FAS 34 35
  • 65.18 (n)
mouse
(Mus musculus)
Mammalia Fas 34 16 35
  • 64.72 (n)
rat
(Rattus norvegicus)
Mammalia Fas 34
  • 63.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAS 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAS 34 35
  • 50.06 (n)
lizard
(Anolis carolinensis)
Reptilia FAS 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fas 34
  • 46.58 (n)
zebrafish
(Danio rerio)
Actinopterygii fas 34 35
  • 46.58 (n)
Species where no ortholog for FAS 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 FAS Gene

ENSEMBL:
Gene Tree for FAS (if available)
TreeFam:
Gene Tree for FAS (if available)

Paralogs for FAS Gene

(2) SIMAP similar genes for FAS Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with FAS: view

No data available for Paralogs for FAS Gene

Variants for FAS Gene

Sequence variations from dbSNP and Humsavar for FAS Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121913076 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859], Pathogenic 89,014,163(+) TCATG(A/C)CACTA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs121913078 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859], Pathogenic 89,008,915(+) GCACC(C/T)GGACC intron-variant, nc-transcript-variant, reference, missense
rs121913079 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859], Pathogenic 89,014,137(+) TAAAT(A/G)TATCA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs121913080 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859], Pathogenic 89,014,191(+) TGTTC(C/G)AAAGA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs121913081 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859], Pathogenic 89,014,251(+) AGACA(C/T)AGCAG nc-transcript-variant, reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv831943 CNV gain 17160897
nsv551841 CNV loss 21841781
esv3624144 CNV gain 21293372
esv3624143 CNV loss 21293372
esv3624139 CNV gain 21293372

Variation tolerance for FAS Gene

Residual Variation Intolerance Score: 69.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAS Gene

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

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

Disorders for FAS Gene

MalaCards: The human disease database

(59) MalaCards diseases for FAS Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome
  • autoimmune lymphoproliferative syndrome, type ib
fas-related autoimmune lymphoproliferative syndrome
lymphoproliferative syndrome
  • lymphoproliferative disorders
silicosis
  • pneumoconiosis due to silicates
dianzani autoimmune lymphoproliferative disease
  • dianzani autoimmune lymphoproliferative syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FAS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNR6_HUMAN
  • Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. {ECO:0000269 PubMed:10090885, ECO:0000269 PubMed:10340403, ECO:0000269 PubMed:10515860, ECO:0000269 PubMed:11418480, ECO:0000269 PubMed:17336828, ECO:0000269 PubMed:7540117, ECO:0000269 PubMed:8929361, ECO:0000269 PubMed:9028321, ECO:0000269 PubMed:9028957, ECO:0000269 PubMed:9322534, ECO:0000269 PubMed:9821419, ECO:0000269 PubMed:9927496}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAS

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

No data available for Genatlas for FAS Gene

Publications for FAS Gene

  1. Evaluation of functional single nucleotide polymorphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis. (PMID: 18361934) Garrido P. … Ruiz-Cabello F. (Hum. Immunol. 2008) 3 22 46 64
  2. Disparate distribution of 16 candidate single nucleotide polymorphisms among racial and ethnic groups of pediatric heart transplant patients. (PMID: 17198275) Girnita D.M. … Zeevi A. (Transplantation 2006) 3 22 46 64
  3. A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway. (PMID: 15465831) Li Q. … Chui Y.-L. (J. Biol. Chem. 2004) 3 4 22 64
  4. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. (PMID: 11418480) Straus S.E. … Lenardo M.J. (Blood 2001) 3 4 46 64
  5. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PMID: 11436125) Prince J.A. … Brookes A.J. (Eur. J. Hum. Genet. 2001) 3 22 46 64

Products for FAS Gene

Sources for FAS Gene

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