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Neb Gene Detail
Summary
  • Symbol
    Neb
  • Name
    nebulin
  • Feature Type
    protein coding gene
  • IDs
    MGI:97292
    NCBI Gene: 17996
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:52136640-52338798 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 29.98 cM
  • Mapping Data
    25 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2224 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97292
protein coding gene Chr2:52136640-52378474 (-)
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
    5
  • Human Ortholog
    NEB, nebulin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    NEB177D, NEM2
  • Links
    NCBI Gene ID: 4703
    neXtProt AC: NX_P20929
    UniProt: P20929

  • Chr Location
    2q23.3; chr2:151485334-151734487 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Neb mouse models; 1 with human NEB associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 4 alleles in 4 genetic backgrounds
    14 phenotypes from multigenic genotypes
    3 images
    26 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 C57BL/6  
    polypeptide NP_035019 RefSeq | MGI Sequence Detail 7152 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 19
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-12801, MGI:2139011
    References
    more
    • Summaries
      All 79
      Developmental Gene Expression 10
      Diseases 3
      Gene Ontology 8
      Phenotypes 26
    • 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:266433 Kiss B, et al., Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle. Proc Natl Acad Sci U S A. 2018 Oct 9;115(41):10369-10374

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory