NEB Chromosome 2
Nebulin
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What This Gene Does
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]
Gene Info
Gene Group
Nebulin family
Locus Type
gene with protein product
Location
2q23.3
Ensembl
ENSG00000183091
Associated Conditions (28)
Nemaline myopathy 2
Inborn genetic diseases
Nemaline myopathy
Arthrogryposis multiplex congenita 6
NEB-related disorder
Actin accumulation myopathy
Distal myopathy
Nebulin-related early-onset distal myopathy
Clear cell carcinoma of kidney
Gastric cancer
Peripheral neuropathy
Limb-girdle muscular dystrophy
Congenital structural myopathy
Progressive proximal muscle weakness
Limb pain
Muscular dystrophy
See cases
Congenital myopathy
Melanoma
Muscle weakness
+8 more conditions
Key Variants
RS1014627144
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
Health Risk
RS1015014078
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1021338595
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1023030953
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1033911248
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
Health Risk
RS1042514269
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1042667385
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1043417027
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
Health Risk
RS1051639339
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1057521174
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1057521769
Conflicting classifications of pathogenicity
Health Risk
RS1057522021
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
All Variants (2435)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2552188970 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552189324 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189361 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189448 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189462 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190072 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190469 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552190497 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190517 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190521 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190536 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190539 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190556 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552190584 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552191223 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552191258 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552192520 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552193689 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552194244 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552194255 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552195829 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552199261 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552199770 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552206364 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552206424 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552206445 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552207548 | Health Risk | Likely pathogenic | Nemaline myopathy, Nemaline myopathy |
| RS2552208262 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552208321 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552215485 | Health Risk | Likely pathogenic | Nemaline myopathy, Nemaline myopathy |
| RS2552216762 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552216776 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552216787 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552216821 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552217007 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552219777 | Health Risk | Likely pathogenic | Nemaline myopathy, Nemaline myopathy |
| RS2552220885 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552220888 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552220942 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552222991 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552224168 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552224228 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552225112 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552225601 | Health Risk | Likely pathogenic | Nemaline myopathy, Nemaline myopathy |
| RS2552227117 | Health Risk | Likely pathogenic | — |
| RS2552227310 | Health Risk | Likely pathogenic | — |
| RS2552227341 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552227348 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552227822 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552227842 | Health Risk | Likely pathogenic | Nemaline myopathy 2, Nemaline myopathy 2 |