Gene: RCAN1

Alternate names for this Gene: ADAPT78|CSP1|DSC1|DSCR1|MCIP1|RCN1

Gene Summary: The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.12

Description of this Gene: regulator of calcineurin 1

Type of Gene: protein-coding

rs2284576 in RCAN1 gene and Malignant Neoplasms PMID 29299148 2017 Cancer risk susceptibility loci in a Swedish population.

rs147868091 in RCAN1 gene and Rheumatoid Arthritis PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.