Aliases for OBSCN Gene
External Ids for OBSCN Gene
Previous GeneCards Identifiers for OBSCN Gene
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]
GeneCards Summary for OBSCN Gene
OBSCN (Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF) is a Protein Coding gene. Diseases associated with OBSCN include cerebral arterial disease. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MYBPC2.
UniProtKB/Swiss-Prot for OBSCN Gene
Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils.