Gene: ANXA11

Alternate names for this Gene: ALS23|ANX11|CAP-50|CAP50

Gene Summary: This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.3

Description of this Gene: annexin A11

Type of Gene: protein-coding

rs1247392012 in ANXA11 gene and AMYOTROPHIC LATERAL SCLEROSIS 23 PMID 28469040 2017 Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

rs6585424 in ANXA11 gene and Chronic Obstructive Airway Disease PMID 23144326 2012 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.

rs3748242 in ANXA11 gene and Coronary Artery Disease PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs1049550 in ANXA11 gene and Sarcoidosis PMID 19165924 2008 Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.

PMID 22936702 2013 Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.

rs6585424 in ANXA11 gene and Surfactant protein D measurement PMID 23144326 2012 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.