Gene: NEB

Alternate names for this Gene: NEB177D|NEM2

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q23.3

Description of this Gene: nebulin

Type of Gene: protein-coding

Gene: RIF1

Alternate names for this Gene: -

Gene Summary: This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q23.3

Description of this Gene: replication timing regulatory factor 1

Type of Gene: protein-coding

rs10182296 in NEB;RIF1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10432479 in NEB;RIF1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs34368668 in NEB;RIF1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1257495033 in NEB;RIF1 gene and Myopathies, Nemaline PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 26019235 2015 Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 26809617 2016 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

rs1257495033 in NEB;RIF1 gene and Nemaline Myopathy 2 PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 27357428 2016 Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.

PMID 26809612 2016 One in seven colorectal cancer patients is under 50, US study shows.

PMID 26403434 2015 "Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy."

PMID 19805734 2009 Core-rod myopathy caused by mutations in the nebulin gene.

PMID 12207938 2002 Nebulin mutations in autosomal recessive nemaline myopathy: an update.

PMID 22941678 2012 Expression of multiple nebulin isoforms in human skeletal muscle and brain.

PMID 24725366 2014 Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 26809617 2016 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

rs34368668 in NEB;RIF1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.