Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
356
Gene name Gene Name - the full gene name approved by the HGNC.
Fas ligand
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FASLG
Synonyms (NCBI Gene) Gene synonyms aliases
ALPS1B, APT1LG1, APTL, CD178, CD95-L, CD95L, FASL, TNFSF6, TNLG1A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALPS1B
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006989 hsa-miR-21-5p Luciferase reporter assay, Western blot 21820586
MIRT006989 hsa-miR-21-5p Luciferase reporter assay, qRT-PCR, Western blot 23177026
MIRT006989 hsa-miR-21-5p Luciferase reporter assay, qRT-PCR, Western blot 23177026
MIRT029780 hsa-miR-26b-5p Microarray 19088304
MIRT006989 hsa-miR-21-5p Reporter assay;Western blot;Other 20371612
Transcription factors
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 information of associated ontologies with gene provided by GO database.
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 TAS 7826947
GO:0005123 Function Death receptor binding IEA
GO:0005125 Function Cytokine activity IEA
GO:0005164 Function Tumor necrosis factor receptor binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
134638 11936 ENSG00000117560
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Autoimmune Lymphoproliferative Disorder autoimmune lymphoproliferative syndrome type 1 GenCC
Psoriasis Psoriasis GWAS
Celiac disease Celiac disease GWAS
Vitiligo Vitiligo GWAS
Associations from Text Mining
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