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Aliases for NEFM Gene

Aliases for NEFM Gene

  • Neurofilament, Medium Polypeptide 2 3
  • NEF3 3 4 6
  • NFM 3 4 6
  • Neurofilament, Medium Polypeptide 150kDa 2 3
  • Neurofilament Triplet M Protein 3 4
  • 160 KDa Neurofilament Protein 3 4
  • Neurofilament 3 3 4
  • NF-M 3 4
  • Neurofilament Medium Polypeptide 3
  • Neurofilament-3 (150 KD Medium) 3

External Ids for NEFM Gene

Previous HGNC Symbols for NEFM Gene

  • NEF3

Previous GeneCards Identifiers for NEFM Gene

  • GC08P024828
  • GC08P023315
  • GC08P024770

Summaries for NEFM Gene

Entrez Gene Summary for NEFM Gene

  • Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

GeneCards Summary for NEFM Gene

NEFM (Neurofilament, Medium Polypeptide) is a Protein Coding gene. Diseases associated with NEFM include wallerian degeneration and toxic encephalopathy. Among its related pathways are Neuroscience and Amyotrophic lateral sclerosis (ALS). GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is LMNB2.

UniProtKB/Swiss-Prot for NEFM Gene

  • Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber

Gene Wiki entry for NEFM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEFM Gene

Genomics for NEFM Gene

Regulatory Elements for NEFM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NEFM Gene

Start:
24,913,012 bp from pter
End:
24,919,098 bp from pter
Size:
6,087 bases
Orientation:
Plus strand

Genomic View for NEFM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NEFM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEFM Gene

Proteins for NEFM Gene

  • Protein details for NEFM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07197-NFM_HUMAN
    Recommended name:
    Neurofilament medium polypeptide
    Protein Accession:
    P07197
    Secondary Accessions:
    • B4DGN2
    • E9PBF7
    • Q4QRK6

    Protein attributes for NEFM Gene

    Size:
    916 amino acids
    Molecular mass:
    102472 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NEFM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEFM Gene

Proteomics data for NEFM Gene at MOPED

Post-translational modifications for NEFM Gene

  • Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization
  • Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function
  • There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber
  • Ubiquitination at Lys118, Lys259, Lys263, Lys271, Lys451, Lys871, and Lys875
  • Glycosylation at Thr47 and Thr431
  • Modification sites at PhosphoSitePlus

Other Protein References for NEFM Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NEFM (NFM)

No data available for DME Specific Peptides for NEFM Gene

Domains for NEFM Gene

Gene Families for NEFM Gene

HGNC:
  • IFF4 :Intermediate filaments type IV

Suggested Antigen Peptide Sequences for NEFM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P07197

UniProtKB/Swiss-Prot:

NFM_HUMAN :
  • P07197
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with NEFM: view

Function for NEFM Gene

Molecular function for NEFM Gene

UniProtKB/Swiss-Prot Function: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber

Gene Ontology (GO) - Molecular Function for NEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005200 structural constituent of cytoskeleton TAS 3608989
GO:0005515 protein binding IPI 20195357
GO:0008017 microtubule binding TAS 17498690
genes like me logo Genes that share ontologies with NEFM: view
genes like me logo Genes that share phenotypes with NEFM: view

Animal Models for NEFM Gene

MGI Knock Outs for NEFM:

Animal Model Products

CRISPR Products

miRNA for NEFM Gene

miRTarBase miRNAs that target NEFM

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NEFM

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NEFM Gene

Localization for NEFM Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEFM Gene COMPARTMENTS Subcellular localization image for NEFM gene
Compartment Confidence
cytoskeleton 4
cytosol 4
mitochondrion 4
nucleus 4

Gene Ontology (GO) - Cellular Components for NEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament --
GO:0005883 neurofilament IEA --
GO:0030424 axon TAS 14662745
GO:0031594 neuromuscular junction IEA --
GO:0043005 neuron projection --
genes like me logo Genes that share ontologies with NEFM: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NEFM Gene

Pathways for NEFM Gene

genes like me logo Genes that share pathways with NEFM: view

Pathways by source for NEFM Gene

1 Cell Signaling Technology pathway for NEFM Gene
1 BioSystems pathway for NEFM Gene
1 KEGG pathway for NEFM Gene
1 GeneGo (Thomson Reuters) pathway for NEFM Gene

Gene Ontology (GO) - Biological Process for NEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0008088 axon cargo transport IEA --
GO:0031133 regulation of axon diameter IEA --
GO:0033693 neurofilament bundle assembly TAS 17498690
GO:0045104 intermediate filament cytoskeleton organization --
genes like me logo Genes that share ontologies with NEFM: view

Compounds for NEFM Gene

(10) Novoseek inferred chemical compound relationships for NEFM Gene

Compound -log(P) Hits PubMed IDs
al3+ 57.3 2
polyacrylamide 17.4 3
serine 17 3
retinoic acid 14.9 1
proline 9.46 1
genes like me logo Genes that share compounds with NEFM: view

Transcripts for NEFM Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NEFM

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NEFM

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEFM Gene

No ASD Table

Relevant External Links for NEFM Gene

GeneLoc Exon Structure for
NEFM
ECgene alternative splicing isoforms for
NEFM

Expression for NEFM Gene

mRNA expression in normal human tissues for NEFM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEFM Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (9.6), Brain - Cortex (7.1), Brain - Anterior cingulate cortex (BA24) (6.7), Brain - Hippocampus (4.7), and Brain - Substantia nigra (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NEFM Gene

SOURCE GeneReport for Unigene cluster for NEFM Gene Hs.458657

genes like me logo Genes that share expressions with NEFM: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NEFM Gene

Orthologs for NEFM Gene

This gene was present in the common ancestor of animals.

Orthologs for NEFM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEFM 35
  • 96.67 (n)
  • 96.05 (a)
NEFM 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NEF3 36
  • 88 (a)
OneToOne
NEFM 35
  • 85.44 (n)
  • 85.95 (a)
dog
(Canis familiaris)
Mammalia NEFM 35
  • 85.08 (n)
  • 81.85 (a)
NEFM 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nefm 16
Nefm 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NEFM 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEFM 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEFM 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEFM 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397994 35
zebrafish
(Danio rerio)
Actinopterygii nefma 36
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ifa-1 36
  • 18 (a)
ManyToMany
ifa-3 36
  • 18 (a)
ManyToMany
ifa-4 36
  • 20 (a)
ManyToMany
ifb-1 36
  • 18 (a)
ManyToMany
ifb-2 36
  • 17 (a)
ManyToMany
ifc-1 36
  • 16 (a)
ManyToMany
ifc-2 36
  • 9 (a)
ManyToMany
ifd-1 36
  • 17 (a)
ManyToMany
ifd-2 36
  • 17 (a)
ManyToMany
mua-6 36
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
CSA.10989 36
  • 33 (a)
ManyToMany
CSA.8134 36
  • 29 (a)
ManyToMany
Species with no ortholog for NEFM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for NEFM Gene

ENSEMBL:
Gene Tree for NEFM (if available)
TreeFam:
Gene Tree for NEFM (if available)

Paralogs for NEFM Gene

Paralogs for NEFM Gene

Pseudogenes.org Pseudogenes for NEFM Gene

genes like me logo Genes that share paralogs with NEFM: view

Variants for NEFM Gene

Sequence variations from dbSNP and Humsavar for NEFM Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs12515 -- 24,918,910(+) ATAAA(C/T)GAAAC utr-variant-3-prime
rs196863 untested, - 24,918,029(-) ccttt(G/T)gtttc missense, reference
rs196864 - 24,917,170(-) CTTGG(G/T)TTTCT missense, reference
rs196865 -- 24,917,021(-) AAAAT(C/T)TCACT intron-variant
rs196866 -- 24,917,002(-) TGAGC(C/T)TCATT intron-variant

Relevant External Links for NEFM Gene

HapMap Linkage Disequilibrium report
NEFM
Human Gene Mutation Database (HGMD)
NEFM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NEFM Gene

Disorders for NEFM Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for NEFM Gene including...

Search for NEFM Gene in MalaCards »

(3) University of Copenhagen DISEASES for NEFM Gene

(4) Novoseek inferred disease relationships for NEFM Gene

Disease -log(P) Hits PubMed IDs
wallerian degeneration 43 1
neurodegeneration 29.6 1
down syndrome 21.9 1
alzheimers disease 19.5 3

Relevant External Links for NEFM

Genetic Association Database (GAD)
NEFM
Human Genome Epidemiology (HuGE) Navigator
NEFM
genes like me logo Genes that share disorders with NEFM: view

No data available for UniProtKB/Swiss-Prot for NEFM Gene

Publications for NEFM Gene

  1. Mutation analysis of the neurofilament M gene in Parkinson's disease. (PMID: 14583397) KrA1ger R. … SchAPls L. (Neurosci. Lett. 2003) 3 23
  2. The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. (PMID: 3608989) Myers M.W. … Nelson D.L. (EMBO J. 1987) 3 4
  3. Association of the dopamine receptor interacting protein gene, NEF3, with early response to antipsychotic medication. (PMID: 16734940) Strous R.D. … Lerer B. (Int. J. Neuropsychopharmacol. 2007) 3 48
  4. RFLP for BgI II at the human neurofilament medium chain (NEF3) gene locus. (PMID: 1348579) Ding Y. … Price R.A. (Nucleic Acids Res. 1992) 2 3
  5. Identification of the major multiphosphorylation site in mammalian neurofilaments. (PMID: 2450354) Lee V.M.-Y. … Lazzarini R.A. (Proc. Natl. Acad. Sci. U.S.A. 1988) 3 4

Products for NEFM Gene

Sources for NEFM Gene

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