Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
355
Gene name Gene Name - the full gene name approved by the HGNC.
Fas cell surface death receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAS
Synonyms (NCBI Gene) Gene synonyms aliases
ALPS1A, APO-1, APT1, CD95, FAS1, FASTM, TNFRSF6
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.31
Summary Summary of gene provided in NCBI Entrez 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 pathogen
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28929498 A>T Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs56006128 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided Intron variant, coding sequence variant, missense variant, non coding transcript variant
rs121913076 A>C Pathogenic Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs121913077 C>T Pathogenic Non coding transcript variant, stop gained, 3 prime UTR variant, coding sequence variant
rs121913078 C>T Pathogenic Intron variant, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005581 hsa-miR-146a-5p Luciferase reporter assay, Western blot 20656888
MIRT006331 hsa-miR-106a-5p Luciferase reporter assay 22431000
MIRT006331 hsa-miR-106a-5p Luciferase reporter assay 22431000
MIRT006331 hsa-miR-106a-5p Luciferase reporter assay 22431000
MIRT006331 hsa-miR-106a-5p Luciferase reporter assay 22431000
Transcription factors
Transcription factor Regulation Reference
ATF2 Unknown 19670268
ATM Activation 19502594
EGR1 Repression 9300687
FOS Activation 10903433
GLI1 Repression 21135115
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005031 Function Tumor necrosis factor receptor activity IBA
GO:0005031 Function Tumor necrosis factor receptor activity IDA 12221075
GO:0005515 Function Protein binding IPI 7536190, 7538907, 10918185, 11003656, 11495919, 11606059, 12724420, 12887920, 15465831, 15917238, 16498403, 17047155, 17159907, 18328427, 18846110, 19118384, 20935634, 20956295, 21109225, 21382479, 21625644, 21713032, 21803845, 25241761, 26942442, 33961781
GO:0005516 Function Calmodulin binding IDA 24914971
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
134637 11920 ENSG00000026103
Protein
UniProt ID P25445
Protein name Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
Protein function Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase CASP8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs CASP8 proteolytic activation which initiates the subsequent cascade of caspases
PDB 1DDF , 2NA7 , 3EWT , 3EZQ , 3THM , 3TJE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00020 TNFR_c6 85 127 TNFR/NGFR cysteine-rich region Domain
PF00020 TNFR_c6 129 165 TNFR/NGFR cysteine-rich region Domain
PF00531 Death 230 314 Death domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:7575433}.
Sequence
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCH
KPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCT
RTQNTKC
RCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLL
LLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVM
TLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKK
ANLCTLAEKIQTII
LKDITSDSENSNFRNEIQSLV
Sequence length 335
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Platinum drug resistance
MAPK signaling pathway
Cytokine-cytokine receptor interaction
p53 signaling pathway
Apoptosis
Necroptosis
Natural killer cell mediated cytotoxicity
TNF signaling pathway
Non-alcoholic fatty liver disease
Alcoholic liver disease
Type I diabetes mellitus
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Chagas disease
African trypanosomiasis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Proteoglycans in cancer
Autoimmune thyroid disease
Allograft rejection
Graft-versus-host disease
Lipid and atherosclerosis
  Caspase activation via Death Receptors in the presence of ligand
Regulation by c-FLIP
RIPK1-mediated regulated necrosis
CASP8 activity is inhibited
TP53 Regulates Transcription of Death Receptors and Ligands
Dimerization of procaspase-8
FasL/ CD95L signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Autoimmune Lymphoproliferative Disorder Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome, type 1a rs1564699214, rs1589485636, rs121913080, rs1564686301, rs606231361, rs267607122, rs1564696849, rs778993919, rs606231362, rs606231364, rs1564691414, rs1842954041, rs606231365, rs1589482683, rs1848315820
View all (19 more)
N/A
Immunodeficiency Inherited Immunodeficiency Diseases rs778993919 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Hepatoblastoma hepatoblastoma N/A N/A ClinVar
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Lymphoid leukemia Lymphoid leukemia (PheCode 204.1), Lymphoid leukemia, chronic (PheCode 204.12) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 23592924, 25910219
Abortion Habitual Associate 30937706
Acquired Immunodeficiency Syndrome Associate 11122242, 15196258, 8781430, 9002958, 9144006
Acrocephalosyndactylia Associate 23330016
Acute Aortic Syndrome Associate 36309656
Acute Coronary Syndrome Associate 11849855, 23330016, 25527700
Acute Disease Associate 14729783
Acute Kidney Injury Associate 26477820, 28814331
Acute Lung Injury Associate 12414525, 16183668, 18310897, 20813889
Acute Retroviral Syndrome Associate 9144006