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Nefm Gene Detail
Summary
  • Symbol
    Nefm
  • Name
    neurofilament, medium polypeptide
  • Synonyms
    Nef3, neurofilament-M, NF160, NF165, Nfm, NF-M
  • Feature Type
    protein coding gene
  • IDs
    MGI:97314
    NCBI Gene: 18040
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:68356994-68362453 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 35.46 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    158 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_97314
 protein coding gene Chr14:68320039-68362453 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021508
 protein coding gene Chr14:62833488-62879487 (-)
A/J MGP_AJ_G0021467
 protein coding gene Chr14:61330160-61378376 (-)
AKR/J MGP_AKRJ_G0021443
 protein coding gene Chr14:63415635-63460067 (-)
BALB/cJ MGP_BALBcJ_G0021473
 protein coding gene Chr14:61319731-61362908 (-)
C3H/HeJ MGP_C3HHeJ_G0021250
 protein coding gene Chr14:63146448-63192396 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021912
 protein coding gene Chr14:65689013-65738088 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019452
 protein coding gene Chr14:59229996-59274111 (-)
CAST/EiJ MGP_CASTEiJ_G0020767
 protein coding gene Chr14:59658391-59701635 (-)
CBA/J MGP_CBAJ_G0021217
 protein coding gene Chr14:67713084-67764060 (-)
DBA/2J MGP_DBA2J_G0021340
 protein coding gene Chr14:60956786-60998940 (-)
FVB/NJ MGP_FVBNJ_G0021319
 protein coding gene Chr14:60366287-60408727 (-)
LP/J MGP_LPJ_G0021415
 protein coding gene Chr14:63898104-63945896 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021348
 protein coding gene Chr14:66666680-66717511 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021935
 protein coding gene Chr14:62652045-62698772 (-)
PWK/PhJ MGP_PWKPhJ_G0020511
 protein coding gene Chr14:57730301-57773154 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020344
 protein coding gene Chr14:58599823-58641590 (-)
WSB/EiJ MGP_WSBEiJ_G0020820
 protein coding gene Chr14:62976757-63021911 (-)



Homology
more
  • Human Ortholog
    NEFM, neurofilament medium chain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NEFM, neurofilament medium chain
  • Synonyms
    NEF3, NF-M, NFM
  • Links
    NCBI Gene ID: 4741
    neXtProt AC: NX_P07197
    UniProt: P07197

  • Chr Location
    8p21.2; chr8:24913758-24919098 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human NEFM associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 4 alleles in 4 genetic backgrounds
    13 phenotypes from multigenic genotypes
    4 images
    23 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 reduced axon diameter.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    22
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
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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
    2877
  • Tissues
    464
  • cDNA Data
    17
  • Literature Summary
    833
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 18040 NCBI Gene Model | MGI Sequence Detail 5460 C57BL/6J ±  kb
transcript NM_008691 RefSeq | MGI Sequence Detail 3244 C57BL/6  
polypeptide P08553 UniProt | EBI | MGI Sequence Detail 848 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000011120 neurofilament medium polypeptide
    (term hierarchy)
  • InterPro Domains
    IPR006821 Intermediate filament head, DNA-binding domain
    IPR018039 Intermediate filament protein, conserved site
    IPR039008 Intermediate filament, rod domain
    IPR050405 Intermediate filament structural protein
    IPR002957 Keratin, type I
  • GlyGen
    P08553 12 sites, 1 O-linked glycan (12 sites)
Molecular
Reagents
less
  • All nucleic 31
    Genomic 4
    cDNA 19
    Primer pair 4
    Other 4

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-12832
References
more
  • Summaries
    All 925
    Developmental Gene Expression 833
    Gene Ontology 22
    Phenotypes 23
  • 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:353479 Erickson AG, et al., Motor innervation directs the correct development of the mouse sympathetic nervous system. Nat Commun. 2024 Aug 16;15(1):7065
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory