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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
40
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoimmune lymphoproliferative syndrome type 1 Likely pathogenic; Pathogenic rs1413244355, rs773045347, rs2527587918, rs80358236 RCV001789806
RCV001948225
RCV003517699
RCV001789750
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB Pathogenic rs80358236 RCV000017959
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer Likely pathogenic rs1413244355 RCV004820889
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acral Lentiginous Malignant Melanoma Acral Lentiginous Malignant Melanoma BEFREE 11603392
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 11442750
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 17853317
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 17853317
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 15659839, 22585600
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20074157, 21390183
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 21390183
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10547600
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 9683272
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 20706274
★☆☆☆☆
Found in Text Mining only