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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for OBSCN (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID84033
Official gene symbolOBSCN
Full nameobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases,ARHGEF30,DKFZp666E245,FLJ14124,KIAA1556,KIAA1639,MGC120409,MGC120410,MGC120411,MGC120412,MGC138590,UNC89,
Gene summaryThe 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]
LocationChromosome: 1   Locus: 1q42.13
Gene position228395861 - 228566575  Map Viewer
Gene orientationplus
Gene size170715 bp
Gene sequence
OMIM ID608616