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Nefl
Gene Detail
 Symbol
Name
ID
Nefl
neurofilament, light polypeptide
MGI:97313
STS D14Nds5
Synonyms CMT2E, NF68, Nfl, NF-L
Feature Type protein coding gene
Genetic Map
Chromosome 14
35.46 cM, cytoband D3
Detailed Genetic Map ± 1 cM


Mapping data(24)
Sequence Map
Chr14:68083863-68089095 bp, + strand
From VEGA annotation of GRCm38

  5233 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4487  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Gene Tree: Nefl

Human
homologs
Human Homolog NEFL, neurofilament, light polypeptide
NCBI Gene ID 4747
neXtProt AC  NX_P07196
Human Synonyms  CMT1F, CMT2E, NF68, NFL, NF-L, PPP1R110
Human Chr (Location)  8p21; chr8:24950955-24956869 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human NEFL
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions of this gene lack neurofilaments in their axons and have motor axons that are reduced in both size and number.
 
Interactions
Nefl interacts with 308 markers (Mir7-1, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (46 annotations)
Process anterograde axon cargo transport, axon transport of mitochondrion, ...
Component axon, cytoplasm, ...
Function identical protein binding, phospholipase binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (91 records)
Data Summary: Results (780)    Tissues (162)    Images (73)
Theiler Stages: 17, 18, 19, 20, 21, 22, 23, 24, 26, 28
Assay TypeResults
Immunohistochemistry 22
RNA in situ 673
Western blot 4
RT-PCR 81
cDNA source data(95)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(121) Genomic(14) cDNA(98) Primer pair(4) Other(5)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000016377 (Evidence)
Ensembl Gene ModelENSMUSG00000022055 (Evidence)
Entrez Gene18039 (Evidence)
UniGene1956
DFCITC1577351, TC1607814
DoTSDT.110781415, DT.491108, DT.99856817
NIA Mouse Gene IndexU015801
Consensus CDS ProjectCCDS27232.1
International Mouse Knockout Project StatusNefl
Sequences
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 sequences
All sequences(28) RefSeq(2) UniProt(2)
Polymorphisms All PCR and RFLP(5) : PCR(4) RFLP(1) SNPs within 2kb(71 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006821 Intermediate filament head, DNA-binding domain
InterPro IPR001664 Intermediate filament protein
InterPro IPR018039 Intermediate filament protein, conserved site
Protein Ontology PR:000011119 neurofilament light polypeptide
References (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:200901 Gilley J, et al., Rescue of Peripheral and CNS Axon Defects in Mice Lacking NMNAT2. J Neurosci. 2013 Aug 14;33(33):13410-24
All references(215)
Other
accession IDs
MGD-MRK-12831, MGI:2145696

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory