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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
Vertebrate
homology
HomoloGene:40755  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 dog; 1 chicken

Gene Tree: Nefh

Human
homologs
Human Homolog NEFH, neurofilament, heavy polypeptide
NCBI Gene ID 4744
neXtProt AC  NX_P12036
Human Synonyms  NFH
Human Chr (Location)  22q12.2; chr22:29480192-29491290 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human NEFH
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit decreased axon diameter and transport.
 
Phenotype Images(4)
Interactions
Nefh interacts with 161 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process axon development, intermediate filament bundle assembly, ...
Component axon, cytoplasm, ...
Function nutrient reservoir activity, protein binding, bridging, ...
External Resources: FuncBase
Expression
Literature Summary: (156 records)
Data Summary: Results (154)    Tissues (69)    Images (53)
Theiler Stages: 17, 20, 21, 22, 23, 24, 26, 28
Assay TypeResults
Immunohistochemistry 79
Western blot 6
RT-PCR 69
cDNA source data(19)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(29) Genomic(6) cDNA(20) Primer pair(2) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000005075 (Evidence)
Ensembl Gene ModelENSMUSG00000020396 (Evidence)
Entrez Gene380684 (Evidence)
UniGene298283
DFCITC1583173, TC1597313
NIA Mouse Gene IndexU032452
Consensus CDS ProjectCCDS36099.1
International Mouse Knockout Project StatusNefh
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005075 VEGA Gene Model | MGI Sequence Detail 9311 C57BL/6J ±  kb
transcript OTTMUST00000011325 VEGA | MGI Sequence Detail 3994 Not Applicable 
polypeptide OTTMUSP00000005280 VEGA | MGI Sequence Detail 1090 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(2) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(33 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001419 HMW glutenin
InterPro IPR001664 Intermediate filament protein
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:208651 Louvi A, et al., Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration. Development. 2014 Mar;141(6):1404-15
All references(243)
Other
accession IDs
MGD-MRK-12826

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory