AlphaFold predicted structure
FAS · P25445
Mean pLDDT
77.9/ 100
Confident
335 residues
Confidence breakdown
- Very high(≥ 90)40%
- Confident(70–90)29%
- Low(50–70)15%
- Very low(< 50)16%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
FAS
Chr 10q23.31Fas cell surface death receptor
- Aliases:
- CD95, APO-1
- MANE:
- ENST00000652046.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Autoimmune lymphoproliferative syndrome with defective apoptosis
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCOVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHaematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHaematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPrimary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMonogenic hearing loss
Disease associations (Open Targets)
autoimmune lymphoproliferative syndrome type 1
0.74autoimmune lymphoproliferative syndrome
0.71lymphoid neoplasm
0.54lymphoma
0.51neurodegenerative disease
0.49B-cell chronic lymphocytic leukemia
0.45diffuse large B-cell lymphoma
0.44hypothyroidism
0.44hereditary disease
0.41Hashimoto thyroiditis
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tumor necrosis factor receptor superfamily member 6
Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase CASP8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs CASP8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro)
Diseases associated with FAS
Curated MONDO disease pages that list FAS among their top associated genes.