FAS Gene (Protein Coding)

Fas Cell Surface Death Receptor

GC10P088969
GIFtS:
51
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 f... See more...

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
  • Tumor Necrosis Factor Receptor Superfamily Member 6 3 4
  • 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
  • APO-1 2 3
  • APT1 3 4
  • CD95 2 3
  • FAS1 3 4
  • Mutant Tumor Necrosis 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
  • FASTM 3
  • FAS 5

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 Lymphoproliferative Syndrome. Among its related pathways are Apoptosis Modulation and Signaling and Proteoglycans in cancer. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is LTBR.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for FAS Gene

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

Genomics for FAS Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FAS Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J088988 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 285.7 +24.8 24813 8.6 BCLAF1 ZNF207 ZNF600 ZNF580 ZMYM3 ATF2 POLR2A CEBPA ATF3 BRCA1 FAS ACTA2 ENSG00000275693 ENSG00000286116 FAS-AS1 ENSG00000240996 ACTA2-AS1 CH25H HSALNG0079551
GH10J088948 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 -17.0 -17041 5.6 YY1 FEZF1 CTCF RXRA PRDM6 SPI1 HNF4A JUND RAD21 ZNF518A ACTA2 lnc-ANKRD22-1 FAS CH25H STAMBPL1 LIPF HSALNG0079546
GH10J088965 Enhancer 0.3 Ensembl dbSUPER 250.7 -1.6 -1628 0.4 FAS piR-39904-004 LINC00865 ACTA2 STAMBPL1
GH10J088968 Enhancer 0.3 ENCODE dbSUPER 250.7 +0.4 390 0.8 FAS lnc-ANKRD22-2 ACTA2 STAMBPL1
GH10J088999 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 35.1 +32.6 32556 4 BCLAF1 CEBPB ZNF341 ZNF24 ATF4 PKNOX1 ATF3 ZBTB17 EED TCF12 HSALNG0079553 FAS CH25H ACTA2-AS1 ACTA2 ENSG00000286116
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAS on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the FAS gene promoter:
  • AP-1
  • STAT1

Genomic Locations for FAS Gene

Latest Assembly
chr10:88,968,429-89,017,059
(GRCh38/hg38)
Size:
48,631 bases
Orientation:
Plus strand

Previous Assembly
chr10:90,750,555-90,776,816
(GRCh37/hg19 by Entrez Gene)
Size:
26,262 bases
Orientation:
Plus strand

chr10:90,750,414-90,775,542
(GRCh37/hg19 by Ensembl)
Size:
25,129 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 Structure • Gene Density

RefSeq DNA sequence for FAS Gene

Proteins for FAS Gene

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  3. Assay products for research

  • 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 (By similarity). Part of a complex containing HIPK3 and FADD (By similarity). Binds RIPK1 and FAIM2 (PubMed:7538908, PubMed:10535980). Interacts with BABAM2 and FEM1B (PubMed:10542291, PubMed:15465831). Interacts with FADD (PubMed:21109225, PubMed:19118384). 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 CALM (PubMed:24914971). In the absence of stimulation, interacts with BIRC2, DDX3X and GSK3B. The interaction with BIRC2 and DDX3X is further enhanced upon receptor stimulation and accompanied by DDX3X and BIRC2 cleavage (PubMed:18846110).
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 7]: Dominant negative isoform, resistant to Fas-mediated apoptosis.

    Three dimensional structures from OCA and Proteopedia for FAS Gene

    Alternative splice isoforms for FAS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAS Gene

Protein Expression for FAS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAS Gene

  • Palmitoylated (PubMed:25301068). Palmitoylation by ZDHHC7 prevents the lysosomal degradation of FAS regulating its expression at the plasma membrane (PubMed:25301068).
  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Thr28, Thr40, Thr42, Thr43, Thr46, Asn118, and Asn136
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TNR6_HUMAN (773)

Other Protein References for FAS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for FAS

No data available for DME Specific Peptides for FAS Gene

Domains & Families for FAS Gene

Gene Families for FAS Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for FAS Gene

InterPro:
Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region
  • Death domain
  • FAS/CD95 receptor family signature

Suggested Antigen Peptide Sequences for FAS Gene

GenScript: Design optimal peptide antigens:
  • Truncated tumor necrosis factor receptor superfamily member 6 (B6VNV5_HUMAN)
  • FAS variant (E6Y7C3_HUMAN)
  • FAS variant (E6Y7C4_HUMAN)
  • FAS 827dupA variant (F0UWG7_HUMAN)
  • TNFRSF6 protein (Q6ICT6_HUMAN)

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

Function for FAS Gene

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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).

Phenotypes From GWAS Catalog for FAS Gene

Gene Ontology (GO) - Molecular Function for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005031 tumor necrosis factor-activated receptor activity IBA 21873635
GO:0005515 protein binding IEA,IPI 7536190
GO:0005516 calmodulin binding IEA,IDA 24914971
GO:0019900 kinase binding IPI 7538908
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:
  • Fas Fas<tm1Dlo>
  • Fas Fas<tm1.1Cgn>
  • Fas Fas<tm1Osa>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAS

Clone products for research

  • Addgene plasmids for FAS

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. Membrane raft.
[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 3
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005829 cytosol NAS 7533181
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0009986 cell surface IDA 22891283
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

3 Sino Biological pathways for FAS Gene
9 GeneGo (Thomson Reuters) pathways for FAS Gene
  • Apoptosis and survival Apoptotic TNF-family pathways
  • Apoptosis and survival Caspase cascade
  • Apoptosis and survival FAS signaling cascades
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
  • Bacterial infections in CF airways
21 Qiagen pathways for FAS Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Apoptosis through Death Receptors
  • Apoptotic Pathways in Synovial Fibroblasts
  • Apoptotic Pathways Triggered By HIV1
2 Cell Signaling Technology pathways for FAS Gene
1 GeneTex pathway 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:0001934 positive regulation of protein phosphorylation IMP 11096076
GO:0006915 apoptotic process IEA,IDA 9681877
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
GO:0006924 activation-induced cell death of T cells IBA 21873635
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with FAS: view

Drugs & Compounds for FAS Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pretomanid Approved Pharma Target, other/unknown 0
Pyrazinamide Approved, Investigational Pharma Target, inhibitor 138
Ethanol Approved Pharma 3544
Choline Approved Nutra 240
Betulinic acid Approved, Investigational Pharma Anti-HIV and antitumor compound,pentacyclic triterpenoid 1

(70) 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

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mRNA/cDNA for FAS Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAS

Clone products for research

  • Addgene plasmids for FAS

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

Expression for FAS Gene

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

mRNA expression in normal human tissues for FAS Gene
mRNA expression by BioGPS for FAS GenemRNA expression by GTEx 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, MaxQB, and MOPED for FAS Gene



Protein tissue co-expression partners for FAS Gene

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

Evidence on tissue expression from TISSUES for FAS Gene

  • Blood(4.7)
  • Liver(4.6)
  • Lymph node(3.1)
  • Spleen(3)
  • Bone marrow(3)
  • Intestine(2.9)
  • Lung(2.7)
  • Nervous system(2.7)
  • Skin(2.6)
  • Kidney(2.5)
  • Heart(2.4)
  • Eye(2.3)
  • Adrenal gland(2.2)
  • Muscle(2.2)
  • Pancreas(2.1)
  • Stomach(2.1)
  • Thyroid gland(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Thorax:
  • lung
Abdomen:
  • kidney
  • liver
  • spleen
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with FAS: view

Primer products for research

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 29 30
  • 99.1 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FAS 29 30
  • 71.21 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FAS 29 30
  • 65.18 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Fas 29 16 30
  • 64.72 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fas 29
  • 63.35 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia FAS 30
  • 41 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FAS 29 30
  • 50.06 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FAS 30
  • 39 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fas 29
  • 46.58 (n)
Zebrafish
(Danio rerio)
 Actinopterygii fas 29 30
  • 46.58 (n)
 OneToOne
Species where no ortholog for FAS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for FAS: view image
Alliance of Genome Resources:
Additional Orthologs for FAS

Paralogs for FAS Gene

Paralogs for FAS Gene

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

  • TNR6_HUMAN
  • E6Y7C3_HUMAN
  • E6Y7C4_HUMAN
  • F0UWG7_HUMAN
  • H7C5Z8_HUMAN
  • Q9UET8_HUMAN
  • S5PSV7_HUMAN
  • S5PZ57_HUMAN
genes like me logo Genes that share paralogs with FAS: view

Variants for FAS Gene

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

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1001817 Uncertain Significance: Autoimmune lymphoproliferative syndrome 89,007,750(+) G/A
NM_000043.6(FAS):c.247G>A (p.Val83Met) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1003135 Uncertain Significance: Autoimmune lymphoproliferative syndrome 89,003,197(+) A/C
NM_000043.6(FAS):c.196+3A>C 		INTRON
1010289 Uncertain Significance: Autoimmune lymphoproliferative syndrome 89,014,142(+) A/G
NM_000043.6(FAS):c.700A>G (p.Thr234Ala) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
1013570 Uncertain Significance: not provided 89,010,750(+) C/A
NM_000043.6(FAS):c.506-3C>A 		INTRON
1016630 Uncertain Significance: Autoimmune lymphoproliferative syndrome 89,012,058(+) C/T
NM_000043.6(FAS):c.628C>T (p.His210Tyr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for FAS Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for FAS Gene

MalaCards: The human disease database

(100) MalaCards diseases for FAS Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome
  • alps
lymphoproliferative syndrome
  • lymphoproliferative disorder
vogt-koyanagi-harada disease
  • harada's disease
human cytomegalovirus infection
  • cytomegalovirus infection
splenomegaly
- 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:20935634, 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 variants affecting the gene represented in this entry.

Additional Disease Information for FAS

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No data available for Genatlas for FAS Gene

Publications for FAS Gene

  1. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. (PMID: 10090885) Jackson CE ā€¦ Puck JM (American journal of human genetics 1999) 3 4 22 72
  2. The Fas-FADD death domain complex structure unravels signalling by receptor clustering. (PMID: 19118384) Scott FL ā€¦ Riedl SJ (Nature 2009) 3 4 22
  3. Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality. (PMID: 19542541) Ji G ā€¦ Wang X (Human reproduction (Oxford, England) 2009) 3 22 40
  4. Functional variants in cell death pathway genes and risk of pancreatic cancer. (PMID: 18483392) Yang M ā€¦ Lin D (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 22 40
  5. 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 ā€¦ Ruiz-Cabello F (Human immunology 2008) 3 22 40

ExternalLinks

View latest publications for FAS gene in Mastermind

Products for FAS Gene

  • Addgene plasmids for FAS

Sources for FAS Gene