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Aliases for NEFH Gene

Aliases for NEFH Gene

  • Neurofilament, Heavy Polypeptide 2 3
  • Neurofilament, Heavy Polypeptide 200kDa 2 3
  • Neurofilament Triplet H Protein 3 4
  • 200 KDa Neurofilament Protein 3 4
  • NF-H 3 4
  • NFH 3 4
  • Neurofilament Heavy Polypeptide 3
  • KIAA0845 4

External Ids for NEFH Gene

Previous GeneCards Identifiers for NEFH Gene

  • GC22P026572
  • GC22P028191
  • GC22P028200
  • GC22P029876
  • GC22P012839

Summaries for NEFH Gene

Entrez Gene Summary for NEFH 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 heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for NEFH Gene

NEFH (Neurofilament, Heavy Polypeptide) is a Protein Coding gene. Diseases associated with NEFH include amyotrophic lateral sclerosis 1 and tropical spastic paraparesis. Among its related pathways are Neuroscience and Amyotrophic lateral sclerosis (ALS). GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB2.

UniProtKB/Swiss-Prot for NEFH Gene

  • Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins

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

Genomics for NEFH Gene

Regulatory Elements for NEFH Gene

Genomic Location for NEFH Gene

29,480,192 bp from pter
29,491,390 bp from pter
11,199 bases
Plus strand

Genomic View for NEFH Gene

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

RefSeq DNA sequence for NEFH Gene

Proteins for NEFH Gene

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

    Protein Symbol:
    Recommended name:
    Neurofilament heavy polypeptide
    Protein Accession:
    Secondary Accessions:
    • B4DYY4
    • Q96HF8
    • Q9UJS7
    • Q9UQ14

    Protein attributes for NEFH Gene

    1026 amino acids
    Molecular mass:
    112479 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA74868.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG63896.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NEFH Gene


neXtProt entry for NEFH Gene

Proteomics data for NEFH Gene at MOPED

Post-translational modifications for NEFH 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, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEFH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NEFH (NFH)

No data available for DME Specific Peptides for NEFH Gene

Domains for NEFH Gene

Gene Families for NEFH Gene

Suggested Antigen Peptide Sequences for NEFH Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the intermediate filament family.
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with NEFH: view

Function for NEFH Gene

Molecular function for NEFH Gene

GENATLAS Biochemistry:
neurofilament,heavy polypeptide (200kDa),with a deletion of the tail primarily involved in uncommon forms of amyotrophic lateral sclerosis
UniProtKB/Swiss-Prot Function:
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins

Gene Ontology (GO) - Molecular Function for NEFH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IMP 7536898
GO:0005200 structural constituent of cytoskeleton ISS --
GO:0008017 microtubule binding TAS 17498690
GO:0019894 kinesin binding TAS 17498690
GO:0019901 protein kinase binding IPI 9313898
genes like me logo Genes that share ontologies with NEFH: view

Phenotypes for NEFH Gene

genes like me logo Genes that share phenotypes with NEFH: view

Animal Models for NEFH Gene

MGI Knock Outs for NEFH:

Animal Model Products

miRNA for NEFH Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NEFH Gene

Localization for NEFH Gene

Subcellular locations from

Jensen Localization Image for NEFH Gene COMPARTMENTS Subcellular localization image for NEFH gene
Compartment Confidence
cytoskeleton 5
cytosol 3
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for NEFH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005739 mitochondrion IEA --
GO:0005882 intermediate filament --
GO:0005883 neurofilament NAS 3138108
GO:0030424 axon TAS 14662745
genes like me logo Genes that share ontologies with NEFH: view

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

Pathways for NEFH Gene

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

Pathways by source for NEFH Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NEFH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0007409 axonogenesis TAS 17498690
GO:0008219 cell death --
GO:0030031 cell projection assembly TAS 17498690
GO:0033693 neurofilament bundle assembly IMP 7536898
genes like me logo Genes that share ontologies with NEFH: view

Drugs for NEFH Gene

(5) Novoseek inferred chemical compound relationships for NEFH Gene

Compound -log(P) Hits PubMed IDs
serine 17 1
opiate 12.8 1
paraffin 9 1
tyrosine 0 1
superoxide 0 2
genes like me logo Genes that share compounds with NEFH: view

Transcripts for NEFH Gene

mRNA/cDNA for NEFH Gene

Unigene Clusters for NEFH Gene

Neurofilament, heavy polypeptide:
Representative Sequences:

Inhibitory RNA Products

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

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b

Relevant External Links for NEFH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NEFH Gene

mRNA expression in normal human tissues for NEFH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Prostate (9.2), Brain - Substantia nigra (6.3), Brain - Frontal Cortex (BA9) (5.6), Brain - Anterior cingulate cortex (BA24) (4.5), Brain - Cortex (4.4), and Brain - Hypothalamus (4.2).

Protein differential expression in normal tissues for NEFH Gene

This gene is overexpressed in Spinal cord (55.7) and Frontal cortex (7.9).

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

SOURCE GeneReport for Unigene cluster for NEFH Gene Hs.198760

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

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Expression partners for NEFH Gene

Orthologs for NEFH Gene

This gene was present in the common ancestor of animals.

Orthologs for NEFH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia NEFH 35
  • 87.03 (n)
  • 90.04 (a)
  • 81 (a)
(Canis familiaris)
Mammalia NEFH 35
  • 86.47 (n)
  • 89.25 (a)
  • 80 (a)
(Mus musculus)
Mammalia Nefh 35
  • 82.42 (n)
  • 82.93 (a)
Nefh 16
Nefh 36
  • 76 (a)
(Pan troglodytes)
Mammalia NEFH 35
  • 99.02 (n)
  • 98.73 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Nefh 35
  • 83.97 (n)
  • 85.86 (a)
(Monodelphis domestica)
Mammalia NEFH 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 22 (a)
(Gallus gallus)
Aves NEFH 35
  • 70.22 (n)
  • 70.72 (a)
  • 60 (a)
(Anolis carolinensis)
Reptilia NEFH 36
  • 41 (a)
(Danio rerio)
Actinopterygii CABZ01079764.1 36
  • 32 (a)
nefmb 36
  • 39 (a)
ngs 36
  • 25 (a)
si:dkey-27m7.4 36
  • 24 (a)
wu:fb15e04 36
  • 17 (a)
zgc:136930 36
  • 21 (a)
zgc:172323 36
  • 15 (a)
(Caenorhabditis elegans)
Secernentea ifa-1 36
  • 22 (a)
ifa-3 36
  • 19 (a)
ifa-4 36
  • 20 (a)
ifb-1 36
  • 19 (a)
ifb-2 36
  • 18 (a)
ifc-1 36
  • 15 (a)
ifc-2 36
  • 8 (a)
ifd-1 36
  • 15 (a)
ifd-2 36
  • 16 (a)
mua-6 36
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
CSA.10989 36
  • 28 (a)
CSA.8134 36
  • 26 (a)
Species with no ortholog for NEFH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 NEFH Gene

Gene Tree for NEFH (if available)
Gene Tree for NEFH (if available)

Paralogs for NEFH Gene

Paralogs for NEFH Gene

(7) SIMAP similar genes for NEFH Gene using alignment to 2 proteins: Pseudogenes for NEFH Gene

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

Variants for NEFH Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for NEFH Gene

The number of repeats is shown to vary between 29 and 30

Sequence variations from dbSNP and Humsavar for NEFH Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs165602 untested, - 29,490,054(+) GAAGG(A/C)GGATG reference, missense
rs165607 -- 29,481,428(+) GCGAC(C/T)CCACT intron-variant
rs165624 -- 29,488,578(+) ACCAG(C/T)TGTTC intron-variant
rs165625 untested 29,490,424(+) GAGGT(A/G)GCCAA reference, synonymous-codon
rs165633 -- 29,484,784(+) GGCAC(A/G)CTGGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv438344 CNV Loss 16468122
nsv524511 CNV Loss 19592680

Relevant External Links for NEFH Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for NEFH Gene

(1) OMIM Diseases for NEFH Gene (162230)


  • Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:7849698}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for NEFH Gene

Disease -log(P) Hits PubMed IDs
amyotrophic lateral sclerosis 74.8 4
motor neuron disease 54.6 1
neurodegenerative diseases 45.3 2
neurodegeneration 41.3 1
alzheimers disease 28.6 1

Relevant External Links for NEFH

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

No data available for Genatlas for NEFH Gene

Publications for NEFH Gene

  1. Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND). (PMID: 14722583) Skvortsova V. … Limborska S. (Eur. J. Hum. Genet. 2004) 3 48
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PMID: 19054571) GregA^rio S.P. … Dias-Neto E. (Psychiatry Res 2009) 3 48
  4. Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). (PMID: 9875737) Tomkins J. … Shaw P.J. (Neuroreport 1998) 3 23
  5. Pin1-dependent prolyl isomerization modulates the stress-induced phosphorylation of high molecular weight neurofilament protein. (PMID: 18635547) Rudrabhatla P. … Pant H.C. (J. Biol. Chem. 2008) 3 23

Products for NEFH Gene

  • Addgene plasmids for NEFH

Sources for NEFH Gene

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