Nefh
Gene Detail

Symbol Name ID

Nefh neurofilament, heavy polypeptide MGI:97309

Synonyms

mKIAA0845, NEFH, NF200, NF-H

Feature Type

protein coding gene

Genetic Map

Chromosome 11

3.12 cM, cytoband A1-A5
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr11:4938754-4948064 bp, - strand From VEGA annotation of GRCm38   9311 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; pig, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Nefh ± 2 cM)

Gene Tree: Nefh

Human ortholog

NEFH neurofilament, heavy polypeptide NCBI Gene ID 4744
Human Synonyms: NFH
Human Chr22:29876181-29887279 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human NEFH (1)

Alleles and phenotypes

All alleles(8) : Targeted(8)
 

Mice homozygous for a knock-out allele exhibit decreased axon diameter and transport.

 
Phenotype Images(4)

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	intermediate filament bundle assembly, intermediate filament cytoskeleton organization, ...
Component	axon, intermediate filament, ...
Function	nutrient reservoir activity

External Resources: FuncBase

Expression

Literature Summary: (144 records)
Data Summary: Results (102)    Tissues (56)    Images (22)
Theiler Stages: 17, 20, 21, 23, 26, 28

Assay Type	Results
Immunohistochemistry	27
Western blot	6
RT-PCR	69

cDNA source data(19)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(29) Genomic(6) cDNA(20) Primer pair(2) Other(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000005075 (Evidence)
Ensembl Gene Model	ENSMUSG00000020396 (Evidence)
Entrez Gene	380684 (Evidence)
UniGene	298283
DFCI	TC1583173, TC1597313
NIA Mouse Gene Index	U032452
Consensus CDS Project	CCDS36099.1
International Mouse Knockout Project Status	Nefh

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005075	VEGA Gene Model | MGI Sequence Detail	9311	C57BL/6J
transcript	OTTMUST00000011325	VEGA | MGI Sequence Detail	3994	Not Applicable
polypeptide	OTTMUSP00000005280	VEGA | MGI Sequence Detail	1090	Not Applicable

All sequences(27) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(15 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR016044	Filament
InterPro	IPR001419	HMW glutenin
InterPro	IPR018039	Intermediate filament protein, conserved site
InterPro	IPR010790	Protein of unknown function DUF1388
Protein Ontology	PR:000011118	neurofilament heavy polypeptide

References

(Earliest) J:11960 Julien JP, et al., Cloning and developmental expression of the murine neurofilament gene family. Brain Res Mol Brain Res. 1986 Dec;387(3):243-50
(Latest) J:191875 Rao MV, et al., The C-terminal domains of NF-H and NF-M subunits maintain axonal neurofilament content by blocking turnover of the stationary neurofilament network. PLoS One. 2012;7(9):e44320
All references(230)

Other accession IDs

MGD-MRK-12826