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50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FASLG
Fas ligand
Chromosome 1 Β· 1q24.3
NCBI Gene: 356Ensembl: ENSG00000117560.9HGNC: HGNC:11936UniProt: P48023
706PubMed Papers
21Diseases
1Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extrinsic apoptotic signaling pathway via death domain receptorspositive regulation of apoptotic processrelease of sequestered calcium ion into cytosol by endoplasmic reticulumcytokine activityautoimmune lymphoproliferative syndrome type 1autoimmune lymphoproliferative syndromeopen-angle glaucomasystemic lupus erythematosus
✦AI Summary

FASLG (Fas ligand) is a cytokine that functions as a death-inducing ligand mediating apoptosis through the extrinsic apoptotic signaling pathway 1. When FASLG binds to its Fas receptor, it activates a caspase-mediated cascade that induces programmed cell death in target cells, characterized by DNA degradation and morphological changes 2. FASLG is typically expressed on T cells and natural killer cells, enabling them to eliminate target cells 3. Loss-of-function mutations in FASLG cause hyper-proliferation and autoimmune disorders, while exaggeration of its death-inducing capacity causes tissue destruction 2. Clinically, FASLG dysregulation associates with multiple diseases. Mutations in FASLG cause autoimmune lymphoproliferative syndrome 4, while polymorphisms (particularly rs5030772) correlate with alopecia areata susceptibility 5. The T844C polymorphism associates with increased breast cancer risk, especially in Asian populations 6. In tumor biology, FASLG copy number increases may facilitate immune evasion by reducing T-cell infiltration effectiveness 3. Beyond immune regulation, FASLG has expanded roles in angiogenesis and tumor progression 7, suggesting therapeutic potential as a drug target for enhancing anti-tumor immunity.

Sources cited
1
FASLG is a death factor that mediates apoptosis through cytokine-receptor interaction, causing DNA degradation and morphological cell changes
PMID: 8910677
2
FASLG-induced apoptosis involves caspase-mediated cascades; loss-of-function mutations cause cell hyper-proliferation while exaggeration causes tissue destruction
PMID: 10690403
3
FASLG is expressed on T cells and NK cells; tumor FASLG copy number increases may facilitate immune evasion
PMID: 40883027
4
FASLG mutations cause monogenic lupus-like autoimmune disorders through apoptosis pathway disruption
PMID: 27812953
5
FASLG rs5030772 polymorphism G-allele associates with alopecia areata susceptibility with upregulated gene expression
PMID: 31741398
6
FASLG T844C polymorphism associates with breast cancer susceptibility, particularly in Asian populations
PMID: 24408012
7
FASLG has expanded roles beyond immune homeostasis to include angiogenesis and tumor progression
PMID: 12787569
Disease Associationsβ“˜21
autoimmune lymphoproliferative syndrome type 1Open Targets
0.70Moderate
autoimmune lymphoproliferative syndromeOpen Targets
0.47Moderate
open-angle glaucomaOpen Targets
0.46Moderate
systemic lupus erythematosusOpen Targets
0.45Moderate
immunodeficiency 98 with autoinflammation, X-linkedOpen Targets
0.35Weak
lung cancerOpen Targets
0.32Weak
allergic rhinitisOpen Targets
0.32Weak
COVID-19Open Targets
0.31Weak
celiac diseaseOpen Targets
0.30Weak
atopic eczemaOpen Targets
0.30Weak
psoriasisOpen Targets
0.28Weak
autoimmune diseaseOpen Targets
0.26Weak
dermatitisOpen Targets
0.25Weak
respiratory system diseaseOpen Targets
0.25Weak
type 1 diabetes mellitusOpen Targets
0.25Weak
Eczematoid dermatitisOpen Targets
0.24Weak
childhood onset asthmaOpen Targets
0.23Weak
asthmaOpen Targets
0.22Weak
allergic diseaseOpen Targets
0.20Weak
preeclampsiaOpen Targets
0.18Weak
Autoimmune lymphoproliferative syndrome 1BUniProt
Pathogenic Variants6
NM_000639.3(FASLG):c.808G>T (p.Glu270Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 270
NM_000639.3(FASLG):c.829G>A (p.Gly277Ser)Likely pathogenic
Autoimmune lymphoproliferative syndrome type 1|Lung cancer
β˜…β˜†β˜†β˜†2024β†’ Residue 277
NM_000639.3(FASLG):c.739del (p.Ala247fs)Likely pathogenic
Autoimmune lymphoproliferative syndrome type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 247
NM_000639.3(FASLG):c.44del (p.Val15fs)Pathogenic
Autoimmune lymphoproliferative syndrome type 1
β˜…β˜†β˜†β˜†2023β†’ Residue 15
NM_000639.3(FASLG):c.343C>T (p.Arg115Ter)Pathogenic
Autoimmune lymphoproliferative syndrome type 1
β˜…β˜†β˜†β˜†2021β†’ Residue 115
NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del)Pathogenic
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB|Autoimmune lymphoproliferative syndrome type 1
β˜†β˜†β˜†β˜†1996β†’ Residue 158
View on ClinVar β†—
Drug Targets1
ASUNERCEPTPhase III
Tumor necrosis factor ligand superfamily member 6 binding agent
COVID-19
Related Genes
CD8AProtein interaction100%LTBRProtein interaction100%TNFRSF1BProtein interaction100%RIPK3Protein interaction100%GNLYProtein interaction100%IFNGProtein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
34%
Liver
28%
Heart
11%
Ovary
1%
Brain
0%
Gene Interaction Network
Click a node to explore
FASLGCD8ALTBRTNFRSF1BRIPK3GNLYIFNG
PROTEIN STRUCTURE
Preparing viewer…
PDB5L19 Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.61LoF Tolerant
pLIβ“˜
0.77Intermediate
Observed/Expected LoF0.35 [0.21–0.61]
RankingsWhere FASLG stands among ~20K protein-coding genes
  • #305of 20,598
    Most Researched706 Β· top 5%
  • #3,283of 5,498
    Most Pathogenic Variants6
  • #4,185of 17,882
    Most Constrained (LOEUF)0.61 Β· top quartile
Genes detectedFASLG
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Monogenic Lupus.
PMID: 27812953
Curr Rheumatol Rep Β· 2016
1.00
2
Overlapping and Distinct
PMID: 31741398
Immunol Invest Β· 2020
0.90
3
FAS and FASLG genetic variants and risk for second primary malignancy in patients with squamous cell carcinoma of the head and neck.
PMID: 20501759
Cancer Epidemiol Biomarkers Prev Β· 2010
0.82
4
FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia.
PMID: 19146781
Reprod Biomed Online Β· 2009
0.80
5
Fas ligand-induced apoptosis.
PMID: 10690403
Annu Rev Genet Β· 1999
0.80