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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NEB (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4703
Official gene symbolNEB
Full namenebulin
Aliases,DKFZp686C1456,FLJ11505,FLJ36536,FLJ39568,FLJ39584,NEB177D,NEM2,
Gene summaryThis gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq]
LocationChromosome: 2   Locus: 2q22
Gene position152591001 - 152341853  Map Viewer
Gene orientationminus
Gene size249149 bp
Gene sequence
OMIM ID161650