Fas | Tumour necrosis factor (TNF) receptor family | IUPHAR/BPS Guide to PHARMACOLOGY

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Fas

target has curated data in GtoImmuPdb

Target id: 1875

Nomenclature: Fas

Systematic Nomenclature: TNFRSF6

Family: Tumour necrosis factor (TNF) receptor family

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 310 10q24.1 FAS Fas cell surface death receptor
Mouse - 306 19 29.48 cM Fas Fas (TNF receptor superfamily member 6)
Rat - 303 1q52 Fas Fas cell surface death receptor
Previous and Unofficial Names
APO-1 | CD95 | apoptosis-mediating surface antigen FAS | Fas receptor | FASLG receptor | Fas cell surface death receptor | FAS1 | TNFRSF6A
Database Links
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
UniProtKB
Wikipedia
Natural/Endogenous Ligands
Fas ligand {Sp: Human}
Adaptor proteins (Human)
FADD
Immunopharmacology Comments
Fas receptor (CD95) is a cell surface protein that belongs to the tumor necrosis factor receptor family, that along with its ligand CD95L, generates a death receptor/death ligand system that mediates apoptosis induction to maintain immune homeostasis. This system is also important in the immune elimination of virus-infected cells, cancer cells and autoreactive T cells. Mouse strains with mutations in Fas or CD95L develop lymphoproliferative conditions, indicating the importance of these proteins to immune cell homeostasis [2]. The phenotype of Fas-mutant mice presents in a systemic lupus erythematosus-like autoimmune disease [3]. Fas or CD95L knockout mice show a more severe autoimmune phenotype than the mutant mice mentioned. Humans with type 1a and 1b autoimmune lymphoproliferative syndrome (ALPS) carry mutations in Fas and CD95L respectively.
Immuno Disease Associations
Disease Name:  Autoimmune lymphoproliferative syndrome; ALPS
Disease Synonyms:  no synonynms
Comment:  Type IA ALPS is caused by mutations in Fas receptor (CD95).
Disease X-refs:  Disease Ontology: DOID:6688
OMIM: 601859
Orphanet: ORPHA3261
References:  1
Phenotypes, Alleles and Disease Models Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0002722 abnormal immune system organ morphology PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0008750 abnormal interferon level PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0000717 abnormal lymphocyte cell number PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0005325 abnormal renal glomerulus morphology PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0002703 abnormal renal tubule morphology PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0008752 abnormal tumor necrosis factor level PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0002871 albuminuria PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0000702 enlarged lymph nodes PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0000691 enlarged spleen PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0002743 glomerulonephritis PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0001859 kidney inflammation PMID: 16267157 
Ccr2tm1Blck|Faslpr Ccr2tm1Blck/Ccr2tm1Blck,Faslpr/Faslpr
MRL.Cg-Ccr2 Fas
MGI:106185  MGI:95484  MP:0002083 premature death PMID: 16267157 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Autoimmune lymphoproliferative syndrome; ALPS
Description: ALPS covers a set of heterogenic heritable conditions characterised by a failure of apoptosis, that results in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias. Genes carrying ALPS-causing mutations include Fas receptor (type IA), fas ligand (type IB), caspase 10 (type IIA), caspase 8 (type IIB), PRKCD (ALPS3), NRAS (ALPS4) and CTLA4 (ALPS5).
Disease Ontology: DOID:6688
OMIM: 601859
Orphanet: ORPHA3261

References

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1. Bidère N, Su HC, Lenardo MJ. (2006) Genetic disorders of programmed cell death in the immune system. Annu. Rev. Immunol., 24: 321-52. [PMID:16551252]

2. Takahashi T, Tanaka M, Brannan CI, Jenkins NA, Copeland NG, Suda T, Nagata S. (1994) Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand. Cell, 76 (6): 969-76. [PMID:7511063]

3. Watanabe-Fukunaga R, Brannan CI, Copeland NG, Jenkins NA, Nagata S. (1992) Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature, 356 (6367): 314-7. [PMID:1372394]

Contributors

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