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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
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:4888754-4898064 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 3.12 cM, cytoband A1-A5
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    293 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97309
 protein coding gene Chr11:4888754-4898064 (-)
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 chain
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NEFH, neurofilament heavy chain
  • Synonyms
    CMT2CC, NFH
  • Links
    NCBI Gene ID: 4744
    neXtProt AC: NX_P12036
    UniProt: P12036

  • Chr Location
    22q12.2; chr22:29480218-29491390 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human NEFH associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 5 alleles in 5 genetic backgrounds
    10 phenotypes from multigenic genotypes
    4 images
    32 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    56
  • GO References
    20
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1098
  • Tissues
    160
  • cDNA Data
    19
  • Literature Summary
    319
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide P19246 UniProt | EBI | MGI Sequence Detail 1090 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000011118 neurofilament heavy polypeptide
      (term hierarchy)
    • InterPro Domains
      IPR018039 Intermediate filament protein, conserved site
      IPR039008 Intermediate filament, rod domain
      IPR033183 Neurofilament heavy polypeptide
      IPR010790 Repeat of unknown function DUF1388
    • GlyGen
      P19246 5 sites, 1 O-linked glycan (5 sites)
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 7
      cDNA 21
      Primer pair 2
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12826
    References
    more
    • Summaries
      All 438
      Developmental Gene Expression 319
      Gene Ontology 20
      Phenotypes 32
    • 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:354198 Hayakawa-Yano Y, et al., Qki5 safeguards spinal motor neuron function by defining the motor neuron-specific transcriptome via pre-mRNA processing. Proc Natl Acad Sci U S A. 2024 Sep 10;121(37):e2401531121
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory