Gene: FAS

Alternate names for this Gene: ALPS1A|APO-1|APT1|CD95|FAS1|FASTM|TNFRSF6

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.31

Description of this Gene: Fas cell surface death receptor

Type of Gene: protein-coding

Gene: STAMBPL1

Alternate names for this Gene: ALMalpha|AMSH-FP|AMSH-LP|bA399O19.2

Gene Summary:

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.31

Description of this Gene: STAM binding protein like 1

Type of Gene: protein-coding

Gene: ACTA2

Alternate names for this Gene: ACTSA

Gene Summary: This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.31

Description of this Gene: actin alpha 2, smooth muscle

Type of Gene: protein-coding

rs1926203 in FAS;STAMBPL1;ACTA2 gene and Carcinoma of lung PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

rs1926203 in FAS;STAMBPL1;ACTA2 gene and Malignant neoplasm of lung PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

rs1926203 in FAS;STAMBPL1;ACTA2 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.