FAS (Fas Cell Surface Death Receptor) Gene
Key regulator of apoptosis, immune homeostasis, and cancer pathogenesis
Gene Information Card
| Symbol | FAS |
|---|---|
| Full Name | Fas cell surface death receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 355 ncbi.nlm.nih.gov/gene/355 |
| Ensembl ID | ENSG00000026103 |
| UniProt ID | P25445 |
| OMIM ID | 134637 |
| HGNC ID | 11920 |
| Aliases | APO-1, CD95, TNFRSF6, FAS1, APT1 |
Description
The FAS gene encodes the Fas receptor, a cell surface protein belonging to the tumor necrosis factor receptor superfamily. Fas receptor is a key mediator of extrinsic apoptosis, binding to Fas ligand (FasL) to trigger a signaling cascade that leads to programmed cell death. This pathway is essential for immune system regulation, including the elimination of autoreactive lymphocytes and cytotoxic T-cell function. Dysregulation of FAS signaling contributes to autoimmune disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome (ALPS) | Heterozygous or homozygous mutations in FAS impair apoptosis of lymphocytes, leading to accumulation of autoreactive cells and lymphoproliferation. | ClinVar, OMIM |
| Squamous cell carcinoma (head and neck) | Somatic mutations in FAS can confer resistance to apoptosis, promoting tumor cell survival. | COSMIC, ClinVar |
| Lung cancer | FAS mutations or altered expression may disrupt apoptosis, contributing to tumor progression. | COSMIC, ClinVar |
| Gastric cancer | Loss of FAS function via mutations or promoter methylation can evade immune surveillance. | COSMIC, ClinVar |
| Hepatocellular carcinoma | Reduced FAS expression or mutations may impair apoptosis, facilitating tumor growth. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 20.1 | Medium |
| Spleen | 15.3 | Medium |
| Thymus | 12.8 | Medium |
| Lymph node | 11.2 | Medium |
| Bone marrow | 8.5 | Low |
| Peripheral blood mononuclear cells | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 25.4 | High expression; commonly used for apoptosis studies |
| HeLa (cervical carcinoma) | 18.7 | Moderate expression |
| A549 (lung carcinoma) | 12.3 | Low expression |
| MCF7 (breast carcinoma) | 9.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 15.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.697C>T (p.Arg233Ter) | Nonsense | Rare (0.1% in general population) | Truncated protein lacking death domain; loss of function |
| c.817C>T (p.Arg273Ter) | Nonsense | Rare (0.05%) | Premature stop codon; loss of function |
| c.1013A>G (p.Tyr338Cys) | Missense | Somatic in cancers (0.2%) | Alters death domain; may impair signaling |
| c.1150G>A (p.Glu384Lys) | Missense | Somatic in cancers (0.1%) | Disrupts protein-protein interaction; dominant-negative effect |
| c.IVS7+2T>G | Splice site | Rare (0.01%) | Aberrant splicing; loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or eliminate Fas receptor expression or signaling, leading to impaired apoptosis. Examples include nonsense mutations (e.g., p.Arg233Ter) and splice-site variants.
Gain of Function (GOF)
Rare; some somatic mutations may enhance pro-survival signaling or alter ligand binding, but evidence is limited.
Dominant Negative (DN)
Missense mutations in the death domain (e.g., p.Glu384Lys) can form non-functional oligomers, interfering with wild-type Fas signaling. This is common in ALPS.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process | • Fas signaling pathway |
| • tumor necrosis factor-activated receptor activity | • death receptor activity |
| • signal transduction | • immune response |
| • regulation of T cell activation |
Pathways
• FasL/Fas signaling pathway
• Apoptosis
• TNF receptor superfamily signaling
• Regulation of immune homeostasis
Protein Summary
The Fas receptor is a type I transmembrane protein of 335 amino acids (mature form) with three extracellular cysteine-rich domains and an intracellular death domain. It trimerizes upon FasL binding, recruiting FADD and caspase-8 to form the death-inducing signaling complex (DISC), which activates downstream caspases and executes apoptosis. Alternative splicing produces soluble isoforms that can inhibit apoptosis. Post-translational modifications include palmitoylation and phosphorylation, which modulate signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAS Knockout HEK293 Cell Line | EDJ-KQ657 | Human | 355 | Details Get a Quote |
| FASLG Knockout HEK293 Cell Line | EDJ-KQ658 | Human | 356 | Details Get a Quote |
| FASN Knockout HEK293 Cell Line | EDJ-KQ1870 | Human | 2194 | Details Get a Quote |
| FASTK Knockout HEK293 Cell Line | EDJ-KQ3678 | Human | 10922 | Details Get a Quote |
| FASTKD2 Knockout HEK293 Cell Line | EDJ-KQ7023 | Human | 22868 | Details Get a Quote |
| NFASC Knockout HEK293 Cell Line | EDJ-KQ7835 | Human | 23114 | Details Get a Quote |
| FASTKD1 Knockout HEK293 Cell Line | EDJ-KQ13450 | Human | 79675 | Details Get a Quote |
| FASTKD5 Knockout HEK293 Cell Line | EDJ-KQ13451 | Human | 60493 | Details Get a Quote |
| FASN Knockout HeLa Cell Line | EDJ-KQ17920 | Human | 2194 | Details Get a Quote |
| FAS Knockout A-549 Cell Line | EDJ-KQ19165 | Human | 355 | Details Get a Quote |
| FAS Knockout HCT 116 Cell Line | EDJ-KQ19166 | Human | 355 | Details Get a Quote |
| FAS Knockout HeLa Cell Line | EDJ-KQ19167 | Human | 355 | Details Get a Quote |
| FASTKD2 Knockout A-549 Cell Line | EDJ-KQ33093 | Human | 22868 | Details Get a Quote |
| FASTKD2 Knockout HCT 116 Cell Line | EDJ-KQ33094 | Human | 22868 | Details Get a Quote |
| FASTKD2 Knockout HeLa Cell Line | EDJ-KQ33095 | Human | 22868 | Details Get a Quote |
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