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Aliases for NEB Gene

Aliases for NEB Gene

  • Nebulin 2 3 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 and Nemaline Myopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is NRAP.

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.

Additional gene information for NEB Gene

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

Genomics for NEB Gene

GeneHancer (GH) Regulatory Elements for NEB Gene

Promoters and enhancers for NEB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J151756 Promoter/Enhancer 1.1 EPDnew dbSUPER 659.1 -22.4 -22400 0.1 HDGF L3MBTL2 DPF2 ZNF592 SMARCA4 HMBOX1 EHMT2 MGA NEB LOC101929356
GH02J151732 Promoter/Enhancer 1 EPDnew ENCODE dbSUPER 658.4 +0.3 339 2.9 USF1 NEB GC02P151476
GH02J151770 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -37.3 -37275 2.4 PKNOX1 ZMYM3 EBF1 BATF IRF4 RELA ADNP NFATC1 EED ATF7 NEB LOC101929356
GH02J151774 Enhancer 1.1 Ensembl ENCODE dbSUPER 20.8 -40.5 -40543 1.9 JUN TAL1 TCF12 EGR1 POLR2A NCOR1 CBFA2T2 FOS ZSCAN29 TRIM24 NEB LOC101929356
GH02J151765 Enhancer 1 ENCODE dbSUPER 20.4 -32.6 -32639 2.3 HDAC1 PKNOX1 NFRKB KLF17 BATF FOS EGR2 CAVIN1 JUNB ZNF592 NEB LOC101929356
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NEB gene promoter:
  • Nkx2-2
  • STAT5A
  • C/EBPalpha
  • USF1
  • USF-1
  • RSRFC4
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3

Genomic Locations for NEB Gene

Genomic Locations for NEB Gene
249,152 bases
Minus strand
249,152 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • F8WCL5
    • F8WCP0
    • Q15346
    • Q53QQ2
    • Q53TG8

    Protein attributes for NEB Gene

    6669 amino acids
    Molecular mass:
    772914 Da
    Quaternary structure:
    • Monomer and homooligomer (PubMed:23615443). Interacts with TTN/titin (PubMed:12482578). Interacts with SVIL (PubMed:18639526). Interacts (via nebulin repeats 160-164) with DES (PubMed:23615443).

    Three dimensional structures from OCA and Proteopedia for NEB Gene

    Alternative splice isoforms for NEB Gene


neXtProt entry for NEB Gene

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

Gene Families for NEB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NEB Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for NEB Gene

Function for NEB Gene

Molecular function for NEB Gene

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.
GENATLAS Biochemistry:
nebulin,helical actin binding protein,of the skeletal muscle,involved in the length regulation of the thin filament

Phenotypes From GWAS Catalog for NEB Gene

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

Human Phenotype Ontology for NEB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEB Gene

MGI Knock Outs for NEB:
  • Neb Neb<tm1Slbt>
  • Neb Neb<tm1(cre)Chen>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEB gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton TAS 7739042
GO:0030016 myofibril IEA --
genes like me logo Genes that share ontologies with NEB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEB Gene

Pathways & Interactions for NEB Gene

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

Pathways by source for NEB Gene

SIGNOR curated interactions for NEB Gene

Is inactivated by:

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

Drugs & Compounds for NEB Gene

(5) Drugs for NEB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) 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

mRNA/cDNA for NEB Gene

Unigene Clusters for NEB Gene

Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for NEB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NEB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for NEB Gene

NURSA nuclear receptor signaling pathways regulating expression of NEB Gene:


SOURCE GeneReport for Unigene cluster for NEB Gene:


mRNA Expression by UniProt/SwissProt for NEB Gene:

Tissue specificity: Muscle specific. Located in the thin filament of striated muscle.

Evidence on tissue expression from TISSUES for NEB Gene

  • Muscle(4.9)
  • Heart(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • kidney
  • stomach
  • pelvis
  • placenta
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with NEB: view

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
(Pan troglodytes)
Mammalia NEB 34
  • 99 (a)
(Canis familiaris)
Mammalia -- 34
  • 93 (a)
-- 34
  • 93 (a)
-- 34
  • 79 (a)
(Monodelphis domestica)
Mammalia NEB 34
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia NEB 34
  • 87 (a)
(Bos Taurus)
Mammalia NEB 34 33
  • 73.98 (n)
(Mus musculus)
Mammalia Neb 16 34 33
  • 73.43 (n)
(Rattus norvegicus)
Mammalia Neb 33
  • 71.99 (n)
(Gallus gallus)
Aves -- 34
  • 77 (a)
-- 34
  • 74 (a)
NEB 33
  • 58.71 (n)
(Anolis carolinensis)
Reptilia NEB 34
  • 74 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9655 33
(Danio rerio)
Actinopterygii neb 34
  • 59 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9034 33
(Caenorhabditis elegans)
Secernentea F42H10.3 34
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
Cin.14713 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14713 33
Species where no ortholog for NEB was found in the sources mined by GeneCards:
  • 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

Gene Tree for NEB (if available)
Gene Tree for NEB (if available)
Evolutionary constrained regions (ECRs) for NEB: view image

Paralogs for NEB Gene

Paralogs for NEB Gene

(6) SIMAP similar genes for NEB Gene using alignment to 19 proteins:

  • B7Z6B9_HUMAN
  • H0Y3P5_HUMAN
  • H0Y786_HUMAN
  • H7C2B3_HUMAN
  • H7C2D0_HUMAN
  • H7C2Z5_HUMAN
  • J3QK84_HUMAN
  • Q05C45_HUMAN
  • Q6P516_HUMAN
  • Q6PJ54_HUMAN
  • Q7Z2R0_HUMAN
  • Q86TG3_HUMAN
  • Q96MF8_HUMAN
  • Q9Y5Z1_HUMAN
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 Variation AA Info Type
rs1015014078 uncertain-significance, Nemaline myopathy 2 151,612,308(-) T/C coding_sequence_variant, intron_variant, missense_variant
rs10170273 conflicting-interpretations-of-pathogenicity, benign, not specified, Nemaline Myopathy, Recessive 151,664,582(-) C/T coding_sequence_variant, synonymous_variant
rs10172023 conflicting-interpretations-of-pathogenicity, benign, not specified, Nemaline Myopathy, Recessive 151,619,514(-) C/G coding_sequence_variant, intron_variant, missense_variant
rs10173335 benign, likely-benign, not specified, Nemaline Myopathy, Recessive 151,656,478(-) A/G/T intron_variant
rs1040987833 uncertain-significance, Nemaline Myopathy, Recessive 151,734,451(-) C/A/T 5_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv4094n100 CNV gain 25217958
esv27088 CNV gain 19812545
esv2720959 CNV deletion 23290073
esv34659 CNV loss 17911159
esv3584103 CNV loss 25503493
esv3584105 CNV loss 25503493
esv3592921 CNV loss 21293372
esv3592922 CNV loss 21293372
esv3592923 CNV loss 21293372
nsv10198 CNV loss 18304495
nsv1143961 CNV deletion 24896259
nsv1148117 CNV duplication 26484159
nsv226 CNV insertion 15895083
nsv2973 CNV insertion 18451855
nsv2974 CNV deletion 18451855
nsv2975 CNV insertion 18451855
nsv2976 CNV insertion 18451855
nsv2978 CNV insertion 18451855
nsv437298 CNV loss 16327808
nsv469804 CNV loss 16826518
nsv471510 CNV gain 19718026
nsv508173 CNV deletion 20534489
nsv834418 CNV gain 17160897
nsv961518 CNV duplication 23825009
nsv963734 CNV duplication 23825009
nsv979135 CNV duplication 23825009

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)

Additional Variant Information for NEB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for NEB Gene

MalaCards: The human disease database

(17) MalaCards diseases for NEB Gene - From: HGMD, OMIM, ClinVar, GTR, 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


  • 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.

Additional Disease Information for NEB

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22 58
  2. Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin. (PMID: 12482578) Ma K … Wang K (FEBS letters 2002) 3 4 22 58
  3. SH3 in muscles: solution structure of the SH3 domain from nebulin. (PMID: 9514727) Politou AS … Pastore A (Journal of molecular biology 1998) 3 4 22 58
  4. 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 (European journal of human genetics : EJHG 1997) 2 3 22 58
  5. The complete primary structure of human nebulin and its correlation to muscle structure. (PMID: 7739042) Labeit S … Kolmerer B (Journal of molecular biology 1995) 3 4 22 58

Products for NEB Gene

Sources for NEB Gene

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