FASLG Gene (Fas Ligand)
Key regulator of apoptosis and immune homeostasis
Gene Information Card
| Symbol | FASLG |
|---|---|
| Full Name | Fas ligand |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.3 |
| NCBI Gene ID | 356 ncbi.nlm.nih.gov/gene/356 |
| Ensembl ID | ENSG00000117560 |
| UniProt ID | P48023 |
| OMIM ID | 134638 |
| HGNC ID | 11936 |
| Aliases | CD95L, CD178, APT1LG1, TNFSF6 |
Description
The FASLG gene encodes Fas ligand (FasL), a type II transmembrane protein belonging to the tumor necrosis factor (TNF) superfamily. FasL binds to its receptor Fas (CD95) to trigger the extrinsic apoptotic pathway, playing a critical role in immune regulation, including activation-induced cell death (AICD) of T cells and maintenance of peripheral tolerance. Mutations in FASLG can lead to autoimmune lymphoproliferative syndrome (ALPS) type IB.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome type IB (ALPS1B) | Loss-of-function mutations in FASLG impair Fas-mediated apoptosis, leading to defective lymphocyte homeostasis and accumulation of autoreactive cells. | OMIM #601859; ClinVar |
| Systemic lupus erythematosus (SLE) | Polymorphisms in FASLG may alter FasL expression or function, contributing to defective apoptosis and autoantibody production. | NCBI Gene; literature review |
| Cancer (various) | Dysregulation of FASLG expression can promote immune evasion by inducing apoptosis of tumor-infiltrating lymphocytes. | COSMIC; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymphoid tissues (spleen, lymph node) | 0.8 | Low |
| Whole blood | 0.2 | Not detected |
| Lung | 0.1 | Not detected |
| Testis | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 0.0 | Low/undetectable; activation-dependent |
| K-562 (chronic myeloid leukemia) | 0.0 | Not detected |
| HEK 293 (embryonic kidney) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.493C>T (p.Arg165*) | Nonsense | Rare | Loss of function; truncated protein |
| c.503G>A (p.Trp168*) | Nonsense | Rare | Loss of function; truncated protein |
| c.611G>A (p.Arg204Gln) | Missense | Rare | Loss of function; impaired receptor binding |
Mutation functional classification
Loss of Function (LOF)
Most reported FASLG mutations are loss-of-function, leading to defective Fas-mediated apoptosis and ALPS type IB.
Gain of Function (GOF)
Not well documented; gain-of-function mutations are rare and may be associated with enhanced apoptosis or immune dysregulation.
Dominant Negative (DN)
Some missense mutations can exert dominant-negative effects by forming non-functional trimers that interfere with wild-type FasL.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • cytokine activity (GO:0005125) |
| • tumor necrosis factor receptor binding (GO:0005164) | • plasma membrane (GO:0005886) |
| • extracellular region (GO:0005576) |
Pathways
• Fas signaling pathway (KEGG: hsa04210)
• Apoptosis (KEGG: hsa04215)
• TNF signaling pathway (KEGG: hsa04668)
Protein Summary
Fas ligand (FasL) is a 281-amino acid transmembrane protein that trimerizes and binds to the Fas receptor (CD95) to induce apoptosis. It is predominantly expressed on activated T cells, natural killer (NK) cells, and in immune-privileged sites. Proteolytic cleavage by metalloproteinases releases a soluble form (sFasL) that can modulate apoptosis. FasL is essential for immune homeostasis, and its dysfunction underlies autoimmune and malignant conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FASLG Knockout HEK293 Cell Line | EDJ-KQ658 | Human | 356 | Details Get a Quote |
| FASLG Knockout HeLa Cell Line | EDJ-KQ52642 | Human | 356 | Details Get a Quote |
| FASLG Knockout A-549 Cell Line | EDJ-KQ61115 | Human | 356 | Details Get a Quote |
| FASLG Knockout HCT 116 Cell Line | EDJ-KQ69603 | Human | 356 | Details Get a Quote |
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