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Nefl Gene Detail
Summary
  • Symbol
    Nefl
  • Name
    neurofilament, light polypeptide
  • Synonyms
    CMT2E, NF68, Nfl, NF-L
  • Feature Type
    protein coding gene
  • IDs
    MGI:97313
    NCBI Gene: 18039
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:68321312-68326544 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 35.46 cM, cytoband D3
  • Mapping Data
    24 experiments
Strain
Comparison
more
  • SNPs within 2kb
    211 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    4
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97313
 protein coding gene Chr14:68321312-68326544 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021509
 protein coding gene Chr14:62834761-62840022 (+)
A/J MGP_AJ_G0021468
 protein coding gene Chr14:61331437-61336714 (+)
AKR/J MGP_AKRJ_G0021444
 protein coding gene Chr14:63416908-63422162 (+)
BALB/cJ MGP_BALBcJ_G0021474
 protein coding gene Chr14:61320992-61326260 (+)
C3H/HeJ MGP_C3HHeJ_G0021251
 protein coding gene Chr14:63147721-63154120 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021913
 protein coding gene Chr14:65690286-65699769 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019453
 protein coding gene Chr14:59231325-59236556 (+)
CAST/EiJ MGP_CASTEiJ_G0020768
 protein coding gene Chr14:59659670-59664928 (+)
CBA/J MGP_CBAJ_G0021218
 protein coding gene Chr14:67714361-67721950 (+)
DBA/2J MGP_DBA2J_G0021341
 protein coding gene Chr14:60958059-60963299 (+)
FVB/NJ MGP_FVBNJ_G0021320
 protein coding gene Chr14:60367554-60373552 (+)
LP/J MGP_LPJ_G0021416
 protein coding gene Chr14:63899377-63905969 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021349
 protein coding gene Chr14:66667955-66673158 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021936
 protein coding gene Chr14:62653322-62658538 (+)
PWK/PhJ MGP_PWKPhJ_G0020512
 protein coding gene Chr14:57731743-57737031 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020345
 protein coding gene Chr14:58601089-58607703 (+)
WSB/EiJ MGP_WSBEiJ_G0020821
 protein coding gene Chr14:62978023-62983723 (+)



Homology
more
  • Human Ortholog
    NEFL, neurofilament light chain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NEFL, neurofilament light chain
  • Synonyms
    CMT1F, CMT2E, CMTDIG, NF68, NF-L, NFL, PPP1R110
  • Links
    NCBI Gene ID: 4747
    neXtProt AC: NX_P07196
    UniProt: P07196

  • Chr Location
    8p21.2; chr8:24950955-24956721 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nefl mouse models; 6 with human NEFL associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 4 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    50 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.
Mice homozygous for disruptions of this gene lack neurofilaments in their axons and have motor axons that are reduced in both size and number.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    94
  • GO References
    32
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
    1634
  • Tissues
    221
  • cDNA Data
    99
  • Literature Summary
    142
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18039 NCBI Gene Model | MGI Sequence Detail 5233 C57BL/6J ±  kb
    transcript NM_010910 RefSeq | MGI Sequence Detail 3395 C57BL/6  
    polypeptide P08551 UniProt | EBI | MGI Sequence Detail 543 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000011119 neurofilament light polypeptide
      (term hierarchy)
    • InterPro Domains
      IPR006821 Intermediate filament head, DNA-binding domain
      IPR018039 Intermediate filament protein, conserved site
      IPR039008 Intermediate filament, rod domain
      IPR050405 Intermediate filament structural protein
    • GlyGen
      P08551 14 sites, 1 O-linked glycan (13 sites)
    Molecular
    Reagents
    less
    • All nucleic 130
      Genomic 14
      cDNA 103
      Primer pair 4
      Other 9

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-12831, MGI:2145696
    References
    more
    • Summaries
      All 297
      Developmental Gene Expression 142
      Diseases 1
      Gene Ontology 32
      Phenotypes 50
    • Earliest
      J:7739 Lewis SA, et al., Genetics, evolution, and expression of the 68,000-mol-wt neurofilament protein: isolation of a cloned cDNA probe. J Cell Biol. 1985 Mar;100(3):843-50
    • Latest
      J:348858 Zaninello M, et al., CLUH maintains functional mitochondria and translation in motoneuronal axons and prevents peripheral neuropathy. Sci Adv. 2024 May 31;10(22):eadn2050
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory