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Neb Gene Detail
Summary
  • Symbol
    Neb
  • Name
    nebulin
  • Feature Type
    protein coding gene
  • IDs
    MGI:97292
    NCBI Gene: 17996
  • Alliance
    gene page
  • Transcription Start Sites
    36 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:52026652-52228810 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 29.98 cM
  • Mapping Data
    25 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5789 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    13
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97292
 protein coding gene Chr2:52026652-52268486 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025733
 protein coding gene Chr2:51451212-51662740 (-)
A/J MGP_AJ_G0025709
 protein coding gene Chr2:49469549-49671597 (-)
AKR/J MGP_AKRJ_G0025679
 protein coding gene Chr2:50898504-51100404 (-)
BALB/cJ MGP_BALBcJ_G0025704
 protein coding gene Chr2:49563697-49768882 (-)
C3H/HeJ MGP_C3HHeJ_G0025465
 protein coding gene Chr2:50893037-51100003 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026150
 protein coding gene Chr2:52965220-53190972 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023556
 protein coding gene Chr2:47448119-47652246 (-)
CAST/EiJ MGP_CASTEiJ_G0024930
 protein coding gene Chr2:50995804-51208787 (-)
CBA/J MGP_CBAJ_G0025445
 protein coding gene Chr2:54975650-55198873 (-)
DBA/2J MGP_DBA2J_G0025576
 protein coding gene Chr2:49121412-49323168 (-)
FVB/NJ MGP_FVBNJ_G0025538
 protein coding gene Chr2:48807138-49008966 (-)
LP/J MGP_LPJ_G0025664
 protein coding gene Chr2:51335627-51546073 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025569
 protein coding gene Chr2:56019044-56229119 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026208
 protein coding gene Chr2:50801635-51011913 (-)
PWK/PhJ MGP_PWKPhJ_G0024671
 protein coding gene Chr2:48994345-49200319 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024477
 protein coding gene Chr2:51021100-51237359 (-)
WSB/EiJ MGP_WSBEiJ_G0024997
 protein coding gene Chr2:51097244-51304130 (-)



Homology
more
  • Human Ortholog
    NEB, nebulin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NEB, nebulin
  • Synonyms
    AMC6, NEB177D, NEM2
  • Links
    NCBI Gene ID: 4703
    neXtProt AC: NX_P20929
    UniProt: P20929

  • Chr Location
    2q23.3; chr2:151485336-151734487 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Neb mouse models; 2 with human NEB associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 7 alleles in 7 genetic backgrounds
    3 images
    36 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    725
  • Tissues
    9
  • cDNA Data
    17
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17996 NCBI Gene Model | MGI Sequence Detail 202159 C57BL/6J ±  kb
    transcript NM_010889 RefSeq | MGI Sequence Detail 22489 ZRU/MplStud  
    polypeptide NP_035019 RefSeq | MGI Sequence Detail 7152 ZRU/MplStud  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 19
      Primer pair 3
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-12801, MGI:2139011
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 12
      Diseases 4
      Gene Ontology 7
      Phenotypes 36
    • 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:342245 Lindqvist J, et al., Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force. Int J Mol Sci. 2023 Oct 12;24(20)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory