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; 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
Human Chr (Location)		8p21; chr8:24808468-24814131 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human NEFL

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

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

All GO classifications: (43 annotations)

Process	anterograde axon cargo transport, axon transport of mitochondrion, ...
Component	axon, growth cone, ...
Function	identical protein binding, phospholipase binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (88 records)
Data Summary: Results (780)    Tissues (162)    Images (71)
Theiler Stages: 17, 18, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	22
RNA in situ	673
Western blot	4
RT-PCR	81

cDNA source data(96)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(122) Genomic(14) cDNA(99) Primer pair(4) Other(5)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000016377 (Evidence)
Ensembl Gene Model	ENSMUSG00000022055 (Evidence)
Entrez Gene	18039 (Evidence)
UniGene	1956
DFCI	TC1577351, TC1607814
DoTS	DT.110781415, DT.491108, DT.99856817
NIA Mouse Gene Index	U015801
Consensus CDS Project	CCDS27232.1
International Mouse Knockout Project Status	Nefl

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016377	VEGA Gene Model | MGI Sequence Detail	5233	C57BL/6J
transcript	OTTMUST00000039417	VEGA | MGI Sequence Detail	3380	Not Applicable
polypeptide	OTTMUSP00000017610	VEGA | MGI Sequence Detail	543	Not Applicable

All sequences(28) RefSeq(2) UniProt(2)

Polymorphisms

All PCR and RFLP(5) : PCR(4) RFLP(1) SNPs(42 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR016044	Filament
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:192196 Hicks AN, et al., Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo. PLoS One. 2012;7(10):e47869
All references(210)

Other accession IDs

MGD-MRK-12831, MGI:2145696