OBSCN, Official Symbol OBSCNprovided by HGNC Official Full Name obscurin, cytoskeletal calmodulin and titin-interacting RhoGEFprovided by HGNC Primary source HGNC:HGNC:15719 See related Ensembl:ENSG00000154358 MIM:608616; AllianceGenome:HGNC:15719 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UNC89; RHABDO1; ARHGEF30 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. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 8.6), prostate (RPKM 2.9) and 15 other tissues See more Orthologs mouse all