NEB Chromosome 2

Nebulin
2435 variants 2435 Health Risk

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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
RS2055484249 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2061157682 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2069560803 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS2079459982 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2080077889 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2084059565 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2084197089 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2084217268 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2091275452 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2093334853 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2094062438 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2094863263 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2096501278 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2096504394 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097449114 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097452910 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097453337 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097548467 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097550591 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097569950 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097711696 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097711830 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097758221 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2097759896 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097773424 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097773972 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098013713 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098126010 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098273867 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098330100 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098660756 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098827484 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098909937 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098910159 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098919015 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2098919758 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099019846 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099020340 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099075936 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099076059 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099076260 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099082250 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099118606 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099187757 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099191297 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099254893 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099279723 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099384937 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099386637 Health Risk Pathogenic Nemaline myopathy 2, NEB-related disorder, Nemaline myopathy 2
RS2099402392 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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