Fas | Tumour necrosis factor (TNF) receptor family | IUPHAR Guide to IMMUNOPHARMACOLOGY

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Fas

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

   GtoImmuPdb view: ON :     Fas has curated data in GtoImmuPdb

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
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
UniProtKB
Wikipedia
Adaptor proteins (Human)
FADD
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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How to cite this page

David MacEwan.
Tumour necrosis factor (TNF) receptor family: Fas. Last modified on 19/04/2017. Accessed on 18/01/2019. IUPHAR/BPS Guide to PHARMACOLOGY, http://guidetoimmunopharmacology.org/GRAC/ObjectDisplayForward?objectId=1875.