Gene Gene information from NCBI Gene database.
Entrez ID 356
Gene name Fas ligand
Gene symbol FASLG
Synonyms (NCBI Gene)
ALPS1BAPT1LG1APTLCD178CD95-LCD95LFASLTNFSF6TNLG1A
Chromosome 1
Chromosome location 1q24.3
Summary This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation,
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs763110 C>T Risk-factor Upstream transcript variant
rs56302117 T>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs80358236 TGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAAA>- Pathogenic 3 prime UTR variant, inframe deletion, coding sequence variant
rs140406512 C>A,T Conflicting-interpretations-of-pathogenicity Intron variant, coding sequence variant, missense variant
rs201525996 A>G Benign, conflicting-interpretations-of-pathogenicity Intron variant
miRNA miRNA information provided by mirtarbase database.
461
miRTarBase ID miRNA Experiments Reference
MIRT006989 hsa-miR-21-5p Luciferase reporter assayWestern blot 21820586
MIRT006989 hsa-miR-21-5p Luciferase reporter assayqRT-PCRWestern blot 23177026
MIRT006989 hsa-miR-21-5p Luciferase reporter assayqRT-PCRWestern blot 23177026
MIRT029780 hsa-miR-26b-5p Microarray 19088304
MIRT006989 hsa-miR-21-5p Reporter assay;Western blot;Other 20371612
Transcription factors Transcription factors information provided by TRRUST V2 database.
21
Transcription factor Regulation Reference
ATF2 Unknown 19670268;9710625
CEBPB Unknown 12496392
CIITA Unknown 14563113
CREM Repression 11754361
EGR1 Unknown 14563113
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17557115
GO:0005102 Function Signaling receptor binding IEA
GO:0005102 Function Signaling receptor binding TAS 7826947
GO:0005123 Function Death receptor binding IEA
GO:0005125 Function Cytokine activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
134638 11936 ENSG00000117560
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48023
Protein name Tumor necrosis factor ligand superfamily member 6 (Apoptosis antigen ligand) (APTL) (CD95 ligand) (CD95-L) (Fas antigen ligand) (Fas ligand) (FasL) (CD antigen CD178) [Cleaved into: Tumor necrosis factor ligand superfamily member 6, membrane form; Tumor n
Protein function Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells (PubMed:26334989, PubMed:9228058). Involved in cytotoxic T-cell-mediated apoptosis, natural killer cell-mediated apoptosis and in T-cell development (
PDB 4MSV , 5L19 , 5L36
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00229 TNF 160 281 TNF(Tumour Necrosis Factor) family Domain
Sequence
MQQPFNYPYPQIYWVDSSASSPWAPPGTVLPCPTSVPRRPGQRRPPPPPPPPPLPPPPPP
PPLPPLPLPPLKKRGNHSTGLCLLVMFFMVLVALVGLGLGMFQLFHLQKELAELRESTSQ
MHTASSLEKQIGHPSPPPEKKELRKVAHLTGKSNSRSMPLEWEDTYGIVLLSGVKYKKGG
LVINETGLYFVYSKVYFRGQSCNNLPLSHKVYMRNSKYPQDLVMMEGKMMSYCTTGQMWA
RSSYLGAVFNLTSADHLYVNVSELSLVNFEESQTFFGLYKL
Sequence length 281
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Platinum drug resistance
MAPK signaling pathway
Ras signaling pathway
Cytokine-cytokine receptor interaction
FoxO signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Necroptosis
Natural killer cell mediated cytotoxicity
Neurotrophin signaling pathway
Non-alcoholic fatty liver disease
Alcoholic liver disease
Type I diabetes mellitus
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
Herpes simplex virus 1 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
TNFs bind their physiological receptors
Interleukin-4 and Interleukin-13 signaling
Dimerization of procaspase-8
FasL/ CD95L signaling
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
FOXO-mediated transcription of cell death genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
207
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune lymphoproliferative syndrome type 1 Likely pathogenic; Pathogenic rs1413244355, rs773045347, rs2527587918, rs80358236 RCV001789806
RCV001948225
RCV003517699
RCV001789750
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB Pathogenic rs80358236 RCV000017959
Lung cancer Likely pathogenic rs1413244355 RCV004820889
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FASLG-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs750792722, rs374974805, rs140406512, rs140595317, rs199500307, rs755648147, rs1394873281, rs1394511823, rs80358238, rs749237778, rs777720730 RCV003918864
RCV003930894
RCV004755851
RCV003982996
RCV004756521
RCV003901672
RCV003979483
RCV003934124
RCV004755745
RCV003392479
RCV003898059
Immunodeficiency 98 with autoinflammation, X-linked Benign; Likely benign rs530390117 RCV002283549
LUNG CANCER, SUSCEPTIBILITY TO risk factor rs763110 RCV000017960
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 30937706
Abortion Habitual Stimulate 30942389
Abortion Spontaneous Stimulate 30942389
Abortion Spontaneous Inhibit 39408839
Acquired Immunodeficiency Syndrome Associate 11122242, 9002958
Acro Osteolysis Associate 12823344
Acrocephalosyndactylia Stimulate 23330016
Acute Coronary Syndrome Associate 11849855, 28348007
Acute Kidney Injury Stimulate 37569838
Acute Lung Injury Stimulate 12414525