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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FAS
Fas cell surface death receptor
Chromosome 10 Β· 10q23.31
NCBI Gene: 355Ensembl: ENSG00000026103.25HGNC: HGNC:11920UniProt: A0A8Q3SIR6
1,259PubMed Papers
21Diseases
0Drugs
118Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisReceptor
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of apoptotic signaling pathwaymembrane raftcell surfacecalmodulin bindingautoimmune lymphoproliferative syndrome type 1autoimmune lymphoproliferative syndromelymphoid neoplasmlymphoma
✦AI Summary

Unable to provide a gene function summary for FAS (Fas cell surface death receptor). The provided PubMed abstracts concern orthopedic topics (ankle instability, toe walking, Achilles tendon rupture, and bone matrix products) and contain no information about FAS gene function, mechanism, or disease relevance. To generate an accurate summary grounded in the provided literature, abstracts specifically addressing FAS signaling, apoptosis pathways, or autoimmune lymphoproliferative syndrome and related FAS-associated diseases would be required. The UniProt information and disease associations listed in the query cannot be cited to any of the provided abstracts.

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
autoimmune lymphoproliferative syndrome type 1Open Targets
0.74Strong
autoimmune lymphoproliferative syndromeOpen Targets
0.65Moderate
lymphoid neoplasmOpen Targets
0.52Moderate
lymphomaOpen Targets
0.51Moderate
chronic lymphocytic leukemiaOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
lymphoid leukemiaOpen Targets
0.45Moderate
diffuse large B-cell lymphomaOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.41Moderate
Hashimoto's thyroiditisOpen Targets
0.39Weak
adult T-cell leukemia/lymphomaOpen Targets
0.37Weak
marginal zone B-cell lymphomaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
neoplasm of mature B-cellsOpen Targets
0.37Weak
Thyroid Gland Diffuse Large B-Cell LymphomaOpen Targets
0.37Weak
Thyroid Gland Mucosa-Associated Lymphoid Tissue LymphomaOpen Targets
0.37Weak
immunodeficiency diseaseOpen Targets
0.34Weak
leukemiaOpen Targets
0.34Weak
ulcerative colitisOpen Targets
0.33Weak
sclerosing cholangitisOpen Targets
0.31Weak
Autoimmune lymphoproliferative syndrome 1AUniProt
Pathogenic Variants118
NM_000043.6(FAS):c.778G>A (p.Asp260Asn)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 260
NM_000043.6(FAS):c.794A>G (p.Asp265Gly)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 265
NM_000043.6(FAS):c.528G>A (p.Trp176Ter)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|FAS-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 176
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|Inherited Immunodeficiency Diseases|See cases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 250
NM_000043.6(FAS):c.691A>T (p.Lys231Ter)Pathogenic
not provided|Autoimmune lymphoproliferative syndrome type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 231
NM_000043.6(FAS):c.758G>T (p.Gly253Val)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 253
NM_000043.6(FAS):c.749G>A (p.Arg250Gln)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 250
NM_000043.6(FAS):c.586C>T (p.Gln196Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 196
NM_000043.6(FAS):c.776T>C (p.Ile259Thr)Likely pathogenic
Autoimmune lymphoproliferative syndrome type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 259
NM_000043.6(FAS):c.443+1G>APathogenic
not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2025
NM_000043.6(FAS):c.536T>G (p.Leu179Arg)Likely pathogenic
Splenomegaly|Autoimmune lymphoproliferative syndrome type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 179
NM_000043.6(FAS):c.332A>G (p.His111Arg)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 111
NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer)Pathogenic
not provided|Autoimmune lymphoproliferative syndrome type 1
β˜…β˜…β˜†β˜†2024β†’ Residue 15
NM_000043.6(FAS):c.657_658del (p.Val220fs)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 220
NM_000043.6(FAS):c.685_686del (p.Leu229fs)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 229
NM_000043.6(FAS):c.651+2T>CPathogenic
FAS-related autoimmune lymphoproliferative syndrome|Autoimmune lymphoproliferative syndrome type 1
β˜…β˜…β˜†β˜†2023
NM_000043.6(FAS):c.20T>C (p.Leu7Pro)Likely pathogenic
not provided|Autoimmune lymphoproliferative syndrome type 1
β˜…β˜…β˜†β˜†2023β†’ Residue 7
NM_000043.6(FAS):c.651+1G>APathogenic
Autoimmune lymphoproliferative syndrome type 1
β˜…β˜…β˜†β˜†2022
NM_000043.6(FAS):c.879_880del (p.Leu294fs)Pathogenic
not provided|Autoimmune lymphoproliferative syndrome type 1
β˜…β˜…β˜†β˜†2020β†’ Residue 294
NM_000043.6(FAS):c.476_489del (p.Leu159fs)Pathogenic
Autoimmune lymphoproliferative syndrome type 1
β˜…β˜†β˜†β˜†2026β†’ Residue 159
View on ClinVar β†—
Related Genes
CD8AProtein interaction100%RIPK1Protein interaction100%MAP3K5Protein interaction100%CASP8Protein interaction100%TNFSF10Protein interaction99%CD40LGProtein interaction98%
Tissue Expression6 tissues
Ovary
100%
Lung
95%
Bone Marrow
80%
Liver
39%
Heart
19%
Brain
11%
Gene Interaction Network
Click a node to explore
FASCD8ARIPK1MAP3K5CASP8TNFSF10CD40LG
PROTEIN STRUCTURE
Preparing viewer…
PDB3TJE Β· 1.93 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.37Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.19 [0.10–0.37]
RankingsWhere FAS stands among ~20K protein-coding genes
  • #113of 20,598
    Most Researched1,259 Β· top 1%
  • #654of 5,498
    Most Pathogenic Variants118 Β· top quartile
  • #1,729of 17,882
    Most Constrained (LOEUF)0.37 Β· top 10%
Genes detectedFAS
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Medial Ankle Instability: Review of Anatomy, Evaluation, and Treatment.
PMID: 36210762
Foot Ankle Spec Β· 2022
1.00
2
Literature Review of Idiopathic Toe Walking: Etiology, Prevalence, Classification, and Treatment.
PMID: 28092971
Foot Ankle Spec Β· 2017
0.90
3
So Now What?
PMID: 28333558
Foot Ankle Spec Β· 2017
0.82
4
Biologics Fusion.
PMID: 28219311
Foot Ankle Spec Β· 2017
0.80
5
Achilles tendon rupture: a review of etiology, population, anatomy, risk factors, and injury prevention.
PMID: 20400437
Foot Ankle Spec Β· 2010
0.80