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
RS756363951 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, NEB-related disorder
RS756726488 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS757784515 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2
RS757999917 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS760200697 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS761232641 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS761964375 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS763365852 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS763541152 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS765403861 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS766168868 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS766385695 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS767709270 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS767902943 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS767967099 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS770238157 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS771046654 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS772366030 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS774834421 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS776059611 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS776569219 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS776635100 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS776982138 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS777232352 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS778593702 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS779173742 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS781185019 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS786204576 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS797044606 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS797045735 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS866949431 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS867732907 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS886041998 Health Risk Pathogenic —
RS886042141 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS886043631 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS886044005 Health Risk Pathogenic —
RS924519892 Health Risk Pathogenic Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
RS1032240985 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1057515573 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS1057516676 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1057516758 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1057516996 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS1057517977 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS1057518200 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS1057524581 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy, Congenital myopathy
RS1161478770 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2, Nemaline myopathy
RS1171781332 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS1177405905 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS1180339426 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1181351466 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
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