QuickView for nebulin (gene)

Gene Symbol:

NEB Homo sapiens

Full name:

nebulin

Synonyms:

NEB177D, NEM2, nebulin, nemaline myopathy type 2

Genomic Location:

Chr 2: 152050099-152299235

Description:

This 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 in...

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This 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  YATTNATC_UNKNOWN ,  TAAWWATAG_RSRFC4_Q2 ,  TAL1BETAE47_01 ,  CAGGTG_E12_Q6 ,  MYOD_Q6 ,  NFY_Q6 ,  TAL1BETAITF2_01 ,  CAGCTG_AP4_Q5

Cytogenetic Map:

2q23.3

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