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

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

rs1800682 in ACTA2;FAS gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1800682 in ACTA2;FAS gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1800682 in ACTA2;FAS gene and Chronic Lymphocytic Leukemia PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

rs1800682 in ACTA2;FAS gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1800682 in ACTA2;FAS gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1800682 in ACTA2;FAS gene and Small Lymphocytic Lymphoma PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

rs1800682 in ACTA2;FAS gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.