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Nefh Gene Detail
Summary
  • Symbol
    Nefh
  • Name
    neurofilament, heavy polypeptide
  • Synonyms
    mKIAA0845, NEFH, NF200, NF-H
  • Feature Type
    protein coding gene
  • IDs
    MGI:97309
    NCBI Gene: 380684
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:4938754-4948064 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 3.12 cM, cytoband A1-A5
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    31 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97309
protein coding gene Chr11:4938754-4948064 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017992
protein coding gene Chr11:1948242-1957390 (-)
A/J MGP_AJ_G0017965
protein coding gene Chr11:1892425-1901680 (-)
AKR/J MGP_AKRJ_G0017929
protein coding gene Chr11:1985027-1994337 (-)
BALB/cJ MGP_BALBcJ_G0017933
protein coding gene Chr11:1867014-1876162 (-)
C3H/HeJ MGP_C3HHeJ_G0017746
protein coding gene Chr11:1873332-1882480 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018385
protein coding gene Chr11:2013085-2022395 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016043
protein coding gene Chr11:1792730-1802156 (-)
CAST/EiJ MGP_CASTEiJ_G0017308
protein coding gene Chr11:1843308-1852674 (-)
CBA/J MGP_CBAJ_G0017721
protein coding gene Chr11:2295425-2304735 (-)
DBA/2J MGP_DBA2J_G0017831
protein coding gene Chr11:1797039-1806349 (-)
FVB/NJ MGP_FVBNJ_G0017823
protein coding gene Chr11:1834536-1843684 (-)
LP/J MGP_LPJ_G0017902
protein coding gene Chr11:2026454-2035764 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017849
protein coding gene Chr11:1945757-1955012 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018425
protein coding gene Chr11:1988631-1997995 (-)
PWK/PhJ MGP_PWKPhJ_G0017088
protein coding gene Chr11:1809860-1819170 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016885
protein coding gene Chr11:1965927-1975217 (-)
WSB/EiJ MGP_WSBEiJ_G0017362
protein coding gene Chr11:1858114-1867424 (-)



Homology
more
  • Human Ortholog
    NEFH, neurofilament heavy
  • Vertebrate Orthologs
    7
  • Human Ortholog
    NEFH, neurofilament heavy
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT2CC, NFH
  • Links
    NCBI Gene ID: 4744
    neXtProt AC: NX_P12036
    UniProt: P12036

  • Chr Location
    22q12.2; chr22:29480192-29491290 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human NEFH associations

Human Disease Mouse Models
      
IDs
View 4 models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 4 alleles in 4 genetic backgrounds
    18 phenotypes from multigenic genotypes
    4 images
    36 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit decreased axon diameter and transport.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 380684 NCBI Gene Model | MGI Sequence Detail 9311 C57BL/6J ±  kb
transcript NM_010904 RefSeq | MGI Sequence Detail 4004 C57BL/6  
polypeptide P19246 UniProt | EBI | MGI Sequence Detail 1090 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 30
    Genomic 7
    cDNA 20
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-12826
References
more
  • Summaries
    All 328
    Developmental Gene Expression 221
    Diseases 1
    Gene Ontology 16
    Phenotypes 36
  • 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:265909 Zhang F, et al., cTAGE5/MEA6 plays a critical role in neuronal cellular components trafficking and brain development. Proc Natl Acad Sci U S A. 2018 Oct 2;115(40):E9449-E9458

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
11/06/2018
MGI 6.13
The Jackson Laboratory