About   Help   FAQ
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
  • Gene Overview
    MyGene.info: NEFL
Location & Maps
more
  • Sequence Map
    Chr14:68083863-68089095 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5233 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 35.46 cM, cytoband D3
  • Mapping Data
    24 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    NEFL, neurofilament, light polypeptide
  • Vertebrate Orthologs
    11
  • Human Ortholog
    NEFL, neurofilament, light polypeptide
    Orthology source: HomoloGene
  • Synonyms
    CMT1F, CMT2E, NF68, NFL, NF-L, PPP1R110
  • Links
    NCBI Gene ID: 4747
    neXtProt AC: NX_P07196

  • Chr Location
    8p21; chr8:24950955-24956869 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4487
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: NEFL
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nefl mouse models; 2 with human NEFL associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Axonal, Type 2E; CMT2E   OMIM: 607684 View 3 models
       Charcot-Marie-Tooth Disease, Demyelinating, Type 1F; CMT1F   OMIM: 607734
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 4 alleles in 5 genetic backgrounds
    26 phenotypes from multigenic genotypes
    49 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.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Targeted
    5
  • Transgenic
    4
  • Genomic Mutations
    1 involving Nefl
  • Incidental Mutations
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
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016377 VEGA Gene Model | MGI Sequence Detail 5233 C57BL/6J ±  kb
transcript OTTMUST00000039417 VEGA | MGI Sequence Detail 3380 Not Applicable  
polypeptide OTTMUSP00000017610 VEGA | MGI Sequence Detail 543 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    71 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000011119 neurofilament light polypeptide
  • InterPro Domains
    IPR006821 Intermediate filament head, DNA-binding domain
    IPR001664 Intermediate filament protein
    IPR018039 Intermediate filament protein, conserved site
    IPR027692 Neurofilament light polypeptide
Molecular
Reagents
less
  • All nucleic 121
    Genomic 14
    cDNA 98
    Primer pair 4
    Other 5

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-12831, MGI:2145696
References
more
  • Summaries
    All 224
    Developmental Gene Expression 100
    Diseases 5
    Gene Ontology 28
    Phenotypes 49
  • 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:229930 Nechiporuk T, et al., The REST remodeling complex protects genomic integrity during embryonic neurogenesis. Elife. 2016;5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/15/2016
MGI 6.04
The Jackson Laboratory