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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

HCOP human homology predictions: NEB
Gene Tree: Neb

Human
homologs
NEB, nebulin
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4703
neXtProt AC: NX_P20929

Human Synonyms: NEB177D, NEM2

Human Chr (Location): 2q22; chr2:151485339-151734487 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human NEB

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(1) Targeted(9)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Neb (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(3)
Interactions
Neb interacts with 373 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 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase neb    NEW 
Molecular
reagents
All nucleic(19) cDNA(18) Other(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000012541 (Evidence)
Ensembl Gene Model ENSMUSG00000026950 (Evidence)
Entrez Gene 17996 (Evidence)
DFCI TC1611026, TC1612052, TC1630624, TC1631613, TC1633407, TC1644717, TC1656610, TC1666653, TC1677385, TC1695526, TC1718349, TC1776852
DoTS DT.110734536, DT.110734539, DT.110734540, DT.40135759, DT.40142727, DT.487639, DT.60117380, DT.87039250, DT.91319196, DT.91331596, DT.94277681, DT.97342549
NIA Mouse Gene Index U001755
Consensus CDS Project CCDS50584.1
International Mouse Phenotyping Consortium Status Neb
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(148) RefSeq(56) UniProt(12)
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:221934 Li F, et al., Nebulin deficiency in adult muscle causes sarcinere defects and muscle-type dependent changes in trophicity - novel insights in nemaline myopathy. Hum Mol Genet. 2015;
All references(63)
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
07/21/2015
MGI 5.22
The Jackson Laboratory