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Aliases for NEB Gene

Aliases for NEB Gene

  • Nebulin 2 3
  • Nemaline Myopathy Type 2 2 3
  • NEM2 3 6
  • NEB177D 3

External Ids for NEB Gene

Previous HGNC Symbols for NEB Gene

  • NEM2

Previous GeneCards Identifiers for NEB Gene

  • GC02M150163
  • GC02M150870
  • GC02M152306
  • GC02M152544
  • GC02M152167
  • GC02M152050
  • GC02M144238

Summaries for NEB Gene

Entrez Gene Summary for NEB Gene

  • 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]

GeneCards Summary for NEB Gene

NEB (Nebulin) is a Protein Coding gene. Diseases associated with NEB include nemaline myopathy 2, autosomal recessive and nemaline myopathy. Among its related pathways are Striated Muscle Contraction and Striated Muscle Contraction. GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is NEBL.

UniProtKB/Swiss-Prot for NEB Gene

  • This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEB Gene

Genomics for NEB Gene

Regulatory Elements for NEB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NEB Gene

Start:
151,485,336 bp from pter
End:
151,734,487 bp from pter
Size:
249,152 bases
Orientation:
Minus strand

Genomic View for NEB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NEB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEB Gene

Proteins for NEB Gene

  • Protein details for NEB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20929-NEBU_HUMAN
    Recommended name:
    Nebulin
    Protein Accession:
    P20929
    Secondary Accessions:
    • F8WCL5
    • F8WCP0
    • Q15346
    • Q53QQ2
    • Q53TG8

    Protein attributes for NEB Gene

    Size:
    6669 amino acids
    Molecular mass:
    772914 Da
    Quaternary structure:
    • Interacts with TTN/titin. Interacts with SVIL.

    Three dimensional structures from OCA and Proteopedia for NEB Gene

    Alternative splice isoforms for NEB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEB Gene

Proteomics data for NEB Gene at MOPED

Post-translational modifications for NEB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NEB Gene

Domains for NEB Gene

Protein Domains for NEB Gene

Graphical View of Domain Structure for InterPro Entry

P20929

UniProtKB/Swiss-Prot:

NEBU_HUMAN :
  • P20929
Domain:
  • Contains 1 SH3 domain.
Similarity:
  • Contains 178 nebulin repeats.
genes like me logo Genes that share domains with NEB: view

No data available for Gene Families for NEB Gene

Function for NEB Gene

Molecular function for NEB Gene

GENATLAS Biochemistry: nebulin,helical actin binding protein,of the skeletal muscle,involved in the length regulation of the thin filament
UniProtKB/Swiss-Prot Function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin

Gene Ontology (GO) - Molecular Function for NEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 12482578
GO:0008307 structural constituent of muscle TAS 7739042
genes like me logo Genes that share ontologies with NEB: view
genes like me logo Genes that share phenotypes with NEB: view

Animal Models for NEB Gene

MGI Knock Outs for NEB:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for NEB Gene

Localization for NEB Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEB Gene

Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEB Gene COMPARTMENTS Subcellular localization image for NEB gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0015629 actin cytoskeleton TAS 7739042
GO:0030018 Z disc IDA 9501083
GO:0043292 contractile fiber --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with NEB: view

Pathways for NEB Gene

genes like me logo Genes that share pathways with NEB: view

Pathways by source for NEB Gene

1 BioSystems pathway for NEB Gene
2 Reactome pathways for NEB Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development TAS 7739042
GO:0007525 somatic muscle development NAS 7739042
GO:0030049 muscle filament sliding TAS --
GO:0030832 regulation of actin filament length NAS 7739042
GO:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with NEB: view

Compounds for NEB Gene

(9) Novoseek inferred chemical compound relationships for NEB Gene

Compound -log(P) Hits PubMed IDs
phalloidin 49.4 9
quin2 49.3 1
actomyosin 44.5 3
ryanodine 18.2 2
calcium 8.98 7
genes like me logo Genes that share compounds with NEB: view

Transcripts for NEB Gene

Unigene Clusters for NEB Gene

Nebulin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NEB

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEB Gene

No ASD Table

Relevant External Links for NEB Gene

GeneLoc Exon Structure for
NEB
ECgene alternative splicing isoforms for
NEB

Expression for NEB Gene

mRNA expression in normal human tissues for NEB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEB Gene

This gene is overexpressed in Muscle - Skeletal (51.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NEB Gene

SOURCE GeneReport for Unigene cluster for NEB Gene Hs.588655

mRNA Expression by UniProt/SwissProt for NEB Gene

P20929-NEBU_HUMAN
Tissue specificity: Muscle specific. Located in the thin filament of striated muscle
genes like me logo Genes that share expressions with NEB: view

In Situ Assay Products

Orthologs for NEB Gene

This gene was present in the common ancestor of animals.

Orthologs for NEB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEB 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NEB 35
  • 73.98 (n)
  • 71.36 (a)
NEB 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Neb 35
  • 73.43 (n)
  • 71.7 (a)
Neb 16
Neb 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NEB 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEB 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Neb 35
  • 71.99 (n)
  • 69.99 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 77 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
NEB 35
  • 58.71 (n)
  • 51.42 (a)
lizard
(Anolis carolinensis)
Reptilia NEB 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9655 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9034 35
zebrafish
(Danio rerio)
Actinopterygii neb 36
  • 59 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F42H10.3 36
  • 27 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14713 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for NEB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for NEB Gene

ENSEMBL:
Gene Tree for NEB (if available)
TreeFam:
Gene Tree for NEB (if available)

Paralogs for NEB Gene

Paralogs for NEB Gene

genes like me logo Genes that share paralogs with NEB: view

Variants for NEB Gene

Sequence variations from dbSNP and Humsavar for NEB Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs2288196 -- 151,525,381(+) TTGGC(A/G)TCAGT intron-variant
rs2288197 -- 151,526,345(+) AGAAC(A/G)GCAGC intron-variant
rs2288198 -- 151,527,399(+) CATGA(C/T)AGTGG intron-variant
rs2288199 -- 151,541,404(+) CACCC(C/T)CTGTG intron-variant
rs2288200 Likely benign, - 151,547,704(+) TCTTG(A/T)CTTTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NEB Gene

Variant ID Type Subtype PubMed ID
esv34659 CNV Loss 17911159
nsv834418 CNV Gain 17160897
nsv437298 CNV Loss 16327808
nsv2973 CNV Insertion 18451855
nsv10198 CNV Loss 18304495
nsv2974 CNV Loss 18451855
nsv469804 CNV Complex 16826518
nsv2975 CNV Insertion 18451855
nsv471510 CNV Duplication 19718026
esv27088 CNV Gain 19812545
nsv508173 CNV Loss 20534489
nsv226 CNV Insertion 15895083
nsv2976 CNV Insertion 18451855
esv2720959 CNV Deletion 23290073
nsv2978 CNV Insertion 18451855

Relevant External Links for NEB Gene

HapMap Linkage Disequilibrium report
NEB
Human Gene Mutation Database (HGMD)
NEB
Locus Specific Mutation Databases (LSDB)
NEB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEB Gene

Disorders for NEB Gene

(1) OMIM Diseases for NEB Gene (161650)

UniProtKB/Swiss-Prot

NEBU_HUMAN
  • Nemaline myopathy 2 (NEM2) [MIM:256030]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. {ECO:0000269 PubMed:10051637}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for NEB Gene

(9) Novoseek inferred disease relationships for NEB Gene

Disease -log(P) Hits PubMed IDs
nemaline myopathy autosomal recessive 96.2 5
myopathies nemaline 95.2 24
nemaline myopathy autosomal dominant 88.4 1
myopathy, congenital 83 2
myopathy 72.1 3

Relevant External Links for NEB

GeneTests
NEB
GeneReviews
NEB
Genetic Association Database (GAD)
NEB
Human Genome Epidemiology (HuGE) Navigator
NEB
genes like me logo Genes that share disorders with NEB: view

Publications for NEB Gene

  1. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (PMID: 10051637) Pelin K. … Wallgren-Pettersson C. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. Cloning, expression, and protein interaction of human nebulin fragments composed of varying numbers of sequence modules. (PMID: 1682316) Jin J.P. … Wang K. (J. Biol. Chem. 1991) 3 4 23
  3. The complete primary structure of human nebulin and its correlation to muscle structure. (PMID: 7739042) Labeit S. … Kolmerer B. (J. Mol. Biol. 1995) 3 4 23
  4. SH3 in muscles: solution structure of the SH3 domain from nebulin. (PMID: 9514727) Politou A.S. … Pastore A. (J. Mol. Biol. 1998) 3 4 23
  5. Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. (PMID: 9359044) Pelin K. … Wallgren-Petterson C. (Eur. J. Hum. Genet. 1997) 2 3 23

Products for NEB Gene

Sources for NEB Gene

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