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Neb
Gene Detail
Symbol

Name
ID
Neb
nebulin
MGI:97292
Feature Type
protein coding gene
Genetic Map
Chromosome 2
29.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(25)
Sequence Map
Chr2:52136662-52338798 bp, - strand
From VEGA annotation of GRCm38

  202137 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:136285  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 chicken

Gene Tree: Neb

Human
homologs
Human Homolog NEB, nebulin
NCBI Gene ID 4703
neXtProt AC  NX_P20929
Human Synonyms  NEB177D, NEM2
Human Chr (Location)  2q22; chr2:151485339-151734487 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human NEB
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity.
 
Human Diseases Modeled Using Mouse Neb (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(3)
Interactions
Neb interacts with 374 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process regulation of actin filament length, sarcomere organization
Component contractile fiber, extracellular vesicular exosome, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (2)    Tissues (2)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
cDNA source data(16)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(19) cDNA(18) Other(1)
Microarray probesets(2)
Other database
links
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012541 VEGA Gene Model | MGI Sequence Detail 202137 C57BL/6J ±  kb
transcript OTTMUST00000029838 VEGA | MGI Sequence Detail 21456 Not Applicable 
polypeptide OTTMUSP00000013415 VEGA | MGI Sequence Detail 6909 Not Applicable 

For the selected sequences
All sequences(162) RefSeq(58) UniProt(24)
Polymorphisms
RFLP(13) : SNPs within 2kb(2260 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2264)
Protein-related
information
ResourceIDDescription
InterPro IPR013998 Nebulin
InterPro IPR000900 Nebulin 35 residue motif
InterPro IPR001452 Src homology-3 domain
Protein Ontology PR:000011107 nebulin
References
(Earliest) J:10476 Mock B, et al., A genetic map of mouse chromosome 1 near the Lsh-Ity-Bcg disease resistance locus. Genomics. 1990 May;7(1):57-64
(Latest) J:213780 Garg A, et al., KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest. 2014 Aug 1;124(8):3529-39
All references(64)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-12801, MGI:2139011

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory