Gene Gene information from NCBI Gene database.
Entrez ID 355
Gene name Fas cell surface death receptor
Gene symbol FAS
Synonyms (NCBI Gene)
ALPS1AAPO-1APT1CD95FAS1FASTMTNFRSF6
Chromosome 10
Chromosome location 10q23.31
Summary 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.
41
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.
358
miRTarBase ID miRNA Experiments Reference
MIRT005581 hsa-miR-146a-5p Luciferase reporter assayWestern 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 factors information provided by TRRUST V2 database.
33
Transcription factor Regulation Reference
ATF2 Unknown 19670268
ATM Activation 19502594
EGR1 Repression 9300687
FOS Activation 10903433
GLI1 Repression 21135115
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
134637 11920 ENSG00000026103
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
417
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune lymphoproliferative syndrome type 1 Pathogenic; Likely pathogenic rs121913086, rs2133515017, rs2133539468, rs2133547404, rs1589488640, rs121913080, rs2133384423, rs2119446366, rs2133472134, rs2119445224, rs2133503921, rs2133502090, rs866771343, rs2133504109, rs2133503091
View all (49 more)
RCV001379330
RCV001383293
RCV001383519
RCV001388141
RCV001382234
RCV001382235
RCV002573298
RCV001878381
RCV001928326
RCV001900407
RCV001987558
RCV001977467
RCV001949292
RCV001884965
RCV001993142
RCV002006613
RCV001939671
RCV002051252
RCV002262183
RCV003517361
RCV002305674
RCV002283777
RCV002464990
RCV003062287
RCV003062288
RCV003058262
RCV003062289
RCV003037351
RCV003037352
RCV003037353
RCV002825303
RCV002810783
RCV002863795
RCV003009179
RCV003011781
RCV003047954
RCV001382236
RCV003517918
RCV003518769
RCV003518770
RCV003518771
RCV003634587
RCV003819549
RCV003517125
RCV001071386
RCV002513090
RCV000638906
RCV001382233
RCV003885402
RCV001051234
RCV000701568
RCV000704333
RCV000695507
RCV000735216
RCV000797871
RCV000805931
RCV000822092
RCV000799837
RCV000853326
RCV000988430
RCV000988431
RCV000988432
RCV000988433
RCV001055690
RCV001071835
RCV001067936
RCV001050531
RCV001070775
RCV001067019
RCV001856272
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA Pathogenic rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365, rs121913085, rs606231366, rs121913086 RCV000017961
RCV000017962
RCV000017963
RCV000017964
RCV000017965
RCV000017968
RCV000017969
RCV000017971
RCV000017972
RCV000017973
RCV000017977
RCV000017978
RCV000017979
RCV000017980
FAS-related disorder Pathogenic rs866771343 RCV003401971
Inherited Immunodeficiency Diseases Likely pathogenic; Pathogenic rs778993919 RCV001027571
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs1571020 RCV005923668
Colon adenocarcinoma Benign; Likely benign rs28362322 RCV005891908
Familial cancer of breast Conflicting classifications of pathogenicity; Benign; Likely benign rs751798922, rs28362322 RCV005869281
RCV005891907
Gastric cancer Benign rs1571020 RCV005923667
Associations from Text MiningDisease 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