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
RS2552185315 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552188977 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552189013 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552189471 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552191244 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552192235 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552192485 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552192687 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552193713 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552193781 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552193822 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552194256 Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552194827 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552195317 Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552195784 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552196136 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552196144 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552199752 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552219739 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552219745 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552219759 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552219832 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552219836 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552219846 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220863 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220869 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220873 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220876 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220880 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220945 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220966 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220976 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552220991 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552222430 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552222622 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552222699 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552222723 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552222811 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552223044 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552224090 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552224161 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552224192 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552224222 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552225123 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552225140 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552225153 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552225557 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552225568 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552225592 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552225596 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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