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
RS2099599008 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099604443 Health Risk Pathogenic Nemaline myopathy, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS2099738446 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS2099762296 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099780461 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099785680 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2148735901 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2148844303 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2148949901 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149172715 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149367866 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149368742 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149872738 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150050727 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150350376 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2150663206 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150664716 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150729369 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150762300 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150918170 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150994126 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152777457 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152821411 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152829108 Health Risk Pathogenic Nemaline myopathy 2, Ovarian serous cystadenocarcinoma, Nemaline myopathy 2
RS2152861881 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152863770 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152874815 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152876293 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152937269 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152954992 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152991690 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2153021199 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153073575 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153115303 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153196376 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153218155 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153320686 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153355216 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153386052 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153447885 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153453236 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153453450 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153489310 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153515167 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153553633 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153574675 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153574857 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153615795 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153615926 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153617810 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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