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Aliases for NEB Gene

Aliases for NEB Gene

  • Nebulin 2 3 5
  • Nemaline Myopathy Type 2 2 3
  • NEB177D 3
  • NEM2 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 neb-related nemaline myopathy. Among its related pathways are Cardiac conduction 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

Promoters for NEB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NEB on UCSC Golden Path with GeneCards custom track

Genomic Location for NEB Gene

Chromosome:
2
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

Genes around NEB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for NEB Gene

Protein Domains for NEB Gene

Graphical View of Domain Structure for InterPro Entry

P20929

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for NEB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEB Gene

MGI Knock Outs for NEB:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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 5
extracellular 5
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030016 myofibril IEA --
GO:0043292 contractile fiber IEA --
genes like me logo Genes that share ontologies with NEB: view

Pathways & Interactions 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

SIGNOR curated interactions for NEB Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007525 somatic muscle development NAS 7739042
genes like me logo Genes that share ontologies with NEB: view

Drugs & Compounds for NEB Gene

(4) Drugs for NEB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for NEB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NEB: view

Transcripts for NEB Gene

Unigene Clusters for NEB Gene

Nebulin:
Representative Sequences:

Inhibitory RNA 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 (x51.5).

Protein differential expression in normal tissues from HIPED for NEB Gene

This gene is overexpressed in Esophagus (18.1), Nasal epithelium (16.7), and Plasma (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NEB: view

In Situ Assay Products

No data available for Protein tissue co-expression partners for NEB Gene

Orthologs for NEB Gene

This gene was present in the common ancestor of animals.

Orthologs for NEB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NEB 35
  • 73.98 (n)
  • 71.36 (a)
NEB 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Neb 35
  • 73.43 (n)
  • 71.7 (a)
Neb 16
Neb 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Neb 35
  • 71.99 (n)
  • 69.99 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NEB 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEB 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NEB 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEB 35
  • 58.71 (n)
  • 51.42 (a)
-- 36
  • 77 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
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
VAR_021888 -
rs2288200 - 151,547,704(+) TCTTG(A/T)CTTTC reference, missense
VAR_047692 -
rs35686968 - 151,724,301(-) CCCCT(C/G)AACTT reference, missense
rs6735208 - 151,679,984(+) TTGTA(A/T)TTGTG 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

Variation tolerance for NEB Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 30.87; 99.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEB Gene

HapMap Linkage Disequilibrium report
NEB
Human Gene Mutation Database (HGMD)
NEB

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

Disorders for NEB Gene

MalaCards: The human disease database

(14) MalaCards diseases for NEB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NEB in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for NEB

Genetic Association Database (GAD)
NEB
Human Genome Epidemiology (HuGE) Navigator
NEB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEB
genes like me logo Genes that share disorders with NEB: view

No data available for Genatlas for NEB Gene

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 67
  2. 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
  3. Nebulin regulates actin filament lengths by a stabilization mechanism. (PMID: 20498015) Pappas C.T. … Gregorio C.C. (J. Cell Biol. 2010) 3 23
  4. Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. (PMID: 16902413) Witt C.C. … Labeit S. (EMBO J. 2006) 3 23
  5. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (PMID: 16917880) Lehtokari V.L. … Wallgren-Pettersson C. (Hum. Mutat. 2006) 3 23

Products for NEB Gene

Sources for NEB Gene

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