NEB

Name

nebulin

Type

protein-coding

Position

151,485,336–151,734,515 (−)

Aliases

AMC6, NEB177D, NEM2

Ensembl

ENSG00000183091

RefSeq RNA

NM_001164507.2, NM_001164508.2, NM_001271208.2, NM_004543.5, XM_005246590.3

RefSeq protein

NP_001157979.2, NP_001157980.2, NP_001258137.2, NP_004534.3, XP_005246647.1

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. [provided by RefSeq, Sep 2009].

via MyGene.info

Gene · Ensembl

nebulin

Symbol

NEB

Biotype

Protein coding

Organism

Homo sapiens

Location

2:151,485,336-151,734,515

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

1NEB.pdb.png

via Wikidata · CC0