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

rs13013209 in NEB gene and Creatine kinase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1197561990 in NEB gene and Dysmorphic features PMID 12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

PMID 10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

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

PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

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

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

PMID 2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

rs10186482 in NEB gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs769345284 in NEB gene and Hydrops Fetalis, Non-Immune PMID 26036949 2015 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

rs201553266 in NEB gene and Multiple congenital anomalies PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

PMID 2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

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

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

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

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

rs1197561990 in NEB gene and Muscle hypotonia PMID 10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

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

PMID 12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

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

PMID 15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

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

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

rs1559168230 in NEB gene and Myopathies, Nemaline PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 25110572 2014 Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

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

PMID 26197980 2016 A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 26841830 2016 New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 19232495 2009 The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

rs1057516758 in NEB gene and Nemaline Myopathy 2 PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

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

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26578207 2015 Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

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

PMID 25110572 2014 Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

PMID 26197980 2016 A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 25205148 2015 Potential toxicity of pesticides in freshwater environments: passive sampling, exposure and impacts on biofilms: the PoToMAC project.

PMID 26841830 2016 New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

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

PMID 22367672 2012 Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

PMID 25079567 2014 Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.

PMID 23572184 2013 Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

rs10174077 in NEB gene and Squamous cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.