Gene: OBSCN

Alternate names for this Gene: ARHGEF30|UNC89

Gene Summary: The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.13

Description of this Gene: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Type of Gene: protein-coding

rs397637 in OBSCN gene and Electrocardiogram: P-R interval PMID 30046033 2018 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

rs417237 in OBSCN gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.