FAS Chromosome 10
Fas cell surface death receptor
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What This Gene Does
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily|Death inducing signaling complex"
Locus Type
gene with protein product
Location
10q23.31
Ensembl
ENSG00000026103
Associated Conditions (19)
Autoimmune lymphoproliferative syndrome type 1
Hepatoblastoma
FAS-related disorder
Inborn genetic diseases
Splenomegaly
Autoimmune lymphoproliferative syndrome with defective apoptosis
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
TYPE IA
SQUAMOUS CELL CARCINOMA
BURN SCAR-RELATED
SOMATIC
Malignant lymphoma
large B-cell
diffuse
Inherited Immunodeficiency Diseases
See cases
Thyroid cancer
nonmedullary
1
Key Variants
RS1430810569
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS143318339
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Hepatoblastoma, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS150489856
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS1848023281
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS1848316496
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, FAS-related disorder, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS2119448150
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS2494797733
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Inborn genetic diseases, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS2495225308
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS2495227180
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS377337130
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Inborn genetic diseases, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS553156945
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Inborn genetic diseases, Autoimmune lymphoproliferative syndrome type 1
Health Risk
RS56006128
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, FAS-related disorder, Autoimmune lymphoproliferative syndrome type 1
Health Risk
All Variants (100)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1564696849 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1564699214 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589465172 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589478691 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589485636 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589488463 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589488640 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589491089 | Health Risk | Pathogenic | — |
| RS1842954041 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1848019699 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1848491059 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1848558128 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1848674892 | Health Risk | Pathogenic | — |
| RS201072885 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2119445224 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2119446366 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2119446879 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2133472134 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2133503091 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2133503921 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2133515017 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2133529359 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2133539468 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2133547404 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495021186 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495102207 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495121485 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495122596 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495153923 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495155336 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495160136 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495225078 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2495228618 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS267607122 | Health Risk | Pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
| RS28929498 | Health Risk | Pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, Autoimmune lymphoproliferative syndrome type 1 |
| RS606231361 | Health Risk | Pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
| RS606231362 | Health Risk | Pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, Autoimmune lymphoproliferative syndrome type 1 |
| RS606231363 | Health Risk | Pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
| RS606231364 | Health Risk | Pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
| RS606231365 | Health Risk | Pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
| RS606231366 | Health Risk | Pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
| RS866771343 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, FAS-related disorder, Autoimmune lymphoproliferative syndrome type 1 |
| RS886039524 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS121913080 | Health Risk | Pathogenic/Likely pathogenic | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589488494 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1848671126 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2119445087 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS2133504109 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS778993919 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune lymphoproliferative syndrome type 1, Inherited Immunodeficiency Diseases, See cases |
| RS886039359 | Health Risk | Pathogenic/Likely pathogenic | Thyroid cancer, nonmedullary, 1 |