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Aliases for NEFM Gene

Aliases for NEFM Gene

  • Neurofilament Medium 2 3
  • Neurofilament, Medium Polypeptide 150kDa 2 3
  • Neurofilament, Medium Polypeptide 2 5
  • Neurofilament Triplet M Protein 3 4
  • 160 KDa Neurofilament Protein 3 4
  • Neurofilament 3 3 4
  • NEF3 3 4
  • NF-M 3 4
  • NFM 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) is a Protein Coding gene. Diseases associated with NEFM include Pineal Parenchymal Tumor Of Intermediate Differentiation and Wallerian Degeneration. Among its related pathways are Neuroscience and Amyotrophic lateral sclerosis (ALS). GO annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is NEFH.

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

Enhancers for NEFM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F024998 1.6 FANTOM5 Ensembl ENCODE 29.3 +87.1 87088 3.7 SIN3A FEZF1 BRCA1 ZNF2 GLIS2 ZNF143 KLF7 REST TSHZ1 SMARCB1 NEFM ENSG00000253535 LOC105379330 GC08M024931
GH08F024941 1.3 FANTOM5 Ensembl ENCODE 26.5 +29.4 29433 2.0 ZNF263 KLF1 MAZ SP3 SP2 ZFHX2 SMARCA4 ZNF366 POLR2A GLIS1 NEFM ENSG00000253535 NEFL PIR55047 LOC105379329
GH08F024977 0.6 Ensembl 33.9 +64.9 64927 0.5 CTCF ZNF362 ZNF654 RAD21 RFX5 ZNF121 SMC3 ZSCAN29 PRDM1 NEFM ENSG00000253535 LOC105379330 NEFL
GH08F025002 1.2 FANTOM5 Ensembl ENCODE 10.2 +90.4 90446 1.7 ZFHX2 ZBTB48 CEBPB NFE2 ZNF600 ZEB2 MAFK ATF2 SP7 ENSG00000253535 NEFM LOC105379330 GC08M024931
GH08F025072 0.8 Ensembl ENCODE 15.3 +160.9 160929 3.1 ZNF211 JUN NFE2 MAFK EGR2 NFE2L2 NEFM ENSG00000253535 GC08M024931 PIR41590
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NEFM on UCSC Golden Path with GeneCards custom track

Promoters for NEFM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001899513 388 801 CTCF JUND SMARCA4 ZNF366 POLR2A MAX REST EZH2

Genomic Location for NEFM Gene

Chromosome:
8
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

Genes around NEFM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEFM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 Lys 118, Lys 263, Lys 271, Lys 451, Lys 871, and Lys 875
  • Glycosylation at Thr 47 and Thr 431
  • Modification sites at PhosphoSitePlus

Other Protein References for NEFM Gene

No data available for DME Specific Peptides for NEFM Gene

Domains & Families for NEFM Gene

Gene Families for NEFM Gene

Suggested Antigen Peptide Sequences for NEFM Gene

Graphical View of Domain Structure for InterPro Entry

P07197

UniProtKB/Swiss-Prot:

NFM_HUMAN :
  • Belongs to the intermediate filament family.
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: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 Model Products

miRNA for NEFM Gene

miRTarBase miRNAs that target NEFM

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NEFM Gene

Localization for NEFM Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEFM gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 4

Gene Ontology (GO) - Cellular Components for NEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
GO:0005883 neurofilament IEA --
GO:0030424 axon TAS 14662745
GO:0097418 neurofibrillary tangle IDA 21828286
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 & Interactions 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:0033693 neurofilament bundle assembly TAS 17498690
GO:0061564 axon development IEA --
genes like me logo Genes that share ontologies with NEFM: view

No data available for SIGNOR curated interactions for NEFM Gene

Drugs & Compounds for NEFM Gene

(4) Drugs for NEFM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for NEFM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NEFM: view

Transcripts for NEFM Gene

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE for NEFM Gene

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.6), Brain - Cortex (x7.1), Brain - Anterior cingulate cortex (BA24) (x6.7), Brain - Hippocampus (x4.7), and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for NEFM Gene

This gene is overexpressed in Spinal cord (36.7), Frontal cortex (17.8), and Brain (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NEFM Gene



Protein tissue co-expression partners for NEFM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NEFM Gene:

NEFM

SOURCE GeneReport for Unigene cluster for NEFM Gene:

Hs.458657
genes like me logo Genes that share expression patterns with NEFM: view

Primer 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 34 35
  • 96.67 (n)
mouse
(Mus musculus)
Mammalia Nefm 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NEF3 35
  • 88 (a)
OneToOne
NEFM 34
  • 85.44 (n)
dog
(Canis familiaris)
Mammalia NEFM 34 35
  • 85.08 (n)
oppossum
(Monodelphis domestica)
Mammalia NEFM 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEFM 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEFM 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEFM 35
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397994 34
zebrafish
(Danio rerio)
Actinopterygii nefma 35
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ifa-4 35
  • 20 (a)
ManyToMany
mua-6 35
  • 19 (a)
ManyToMany
ifa-1 35
  • 18 (a)
ManyToMany
ifa-3 35
  • 18 (a)
ManyToMany
ifb-1 35
  • 18 (a)
ManyToMany
ifb-2 35
  • 17 (a)
ManyToMany
ifd-1 35
  • 17 (a)
ManyToMany
ifd-2 35
  • 17 (a)
ManyToMany
ifc-1 35
  • 16 (a)
ManyToMany
ifc-2 35
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
ManyToMany
CSA.10989 35
  • 33 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
CSA.8134 35
  • 29 (a)
ManyToMany
Species where no ortholog for NEFM was found in the sources mined by GeneCards:
  • 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
rs196863 untested 24,918,029(-) ccttt(G/T)gtttc intron-variant, reference, missense
rs56902012 untested 24,914,799(+) TGCGC(A/C/G)GCACC intron-variant, upstream-variant-2KB, reference, missense
rs57294395 untested 24,918,118(+) TAAAG(G/T)TGCAC intron-variant, reference, missense
rs57658073 untested 24,918,427(+) AAACG(A/G)TAGAA intron-variant, reference, missense
rs57688534 untested 24,914,630(+) GAAAG(A/C)CACTC intron-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NEFM Gene

Variant ID Type Subtype PubMed ID
esv3616666 OTHER inversion 21293372
esv3891377 CNV loss 25118596

Variation tolerance for NEFM Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEFM Gene

Human Gene Mutation Database (HGMD)
NEFM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEFM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEFM Gene

Disorders for NEFM Gene

MalaCards: The human disease database

(3) MalaCards diseases for NEFM Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
wallerian degeneration
  • wallerian degeneration of the pyramidal tract
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search NEFM in MalaCards View complete list of genes associated with diseases

Relevant External Links for NEFM

Genetic Association Database (GAD)
NEFM
Human Genome Epidemiology (HuGE) Navigator
NEFM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEFM
genes like me logo Genes that share disorders with NEFM: view

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

Publications for NEFM Gene

  1. 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 46 64
  2. Mutation analysis of the neurofilament M gene in Parkinson's disease. (PMID: 14583397) KrA1ger R. … SchAPls L. (Neurosci. Lett. 2003) 3 22 64
  3. 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 64
  4. 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 64
  5. 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 64

Products for NEFM Gene

Sources for NEFM Gene

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