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Aliases for NEFH Gene

Aliases for NEFH Gene

  • Neurofilament, Heavy Polypeptide 2 3 5
  • 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
  • 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 lateral sclerosis. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Amyotrophic lateral sclerosis (ALS). GO annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is KRT82.

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

Promoters for NEFH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NEFH on UCSC Golden Path with GeneCards custom track

Genomic Location for NEFH Gene

Chromosome:
22
Start:
29,480,192 bp from pter
End:
29,491,390 bp from pter
Size:
11,199 bases
Orientation:
Plus strand

Genomic View for NEFH Gene

Genes around NEFH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEFH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P12036-NFH_HUMAN
    Recommended name:
    Neurofilament heavy polypeptide
    Protein Accession:
    P12036
    Secondary Accessions:
    • B4DYY4
    • Q96HF8
    • Q9UJS7
    • Q9UQ14

    Protein attributes for NEFH Gene

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

    Alternative splice isoforms for NEFH Gene

    UniProtKB/Swiss-Prot:

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 & Families for NEFH Gene

Gene Families for NEFH Gene

Suggested Antigen Peptide Sequences for NEFH Gene

Graphical View of Domain Structure for InterPro Entry

P12036

UniProtKB/Swiss-Prot:

NFH_HUMAN :
  • Belongs to the intermediate filament family.
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:0019894 kinesin binding TAS 17498690
GO:0019901 protein kinase binding IPI 9313898
genes like me logo Genes that share ontologies with NEFH: view
genes like me logo Genes that share phenotypes with NEFH: view

Human Phenotype Ontology for NEFH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEFH Gene

MGI Knock Outs for NEFH:

Animal Model Products

miRNA for NEFH Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for NEFH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEFH Gene COMPARTMENTS Subcellular localization image for NEFH gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
mitochondrion 3

Gene Ontology (GO) - Cellular Components for NEFH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030424 axon IEA,TAS 14662745
GO:0043209 myelin sheath IEA --
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 & Interactions for NEFH Gene

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

Pathways by source for NEFH Gene

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

SIGNOR curated interactions for NEFH Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NEFH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021766 hippocampus development IEA --
GO:0021987 cerebral cortex development IEA --
GO:0031175 neuron projection development IEA --
GO:0033693 neurofilament bundle assembly IMP 7536898
GO:0034599 cellular response to oxidative stress IEA --
genes like me logo Genes that share ontologies with NEFH: view

Drugs & Compounds for NEFH Gene

(2) Drugs for NEFH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for NEFH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2:

Relevant External Links for NEFH Gene

GeneLoc Exon Structure for
NEFH
ECgene alternative splicing isoforms for
NEFH

Expression for NEFH Gene

mRNA expression in normal human tissues for NEFH Gene

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

This gene is overexpressed in Prostate (x9.2), Brain - Substantia nigra (x6.3), Brain - Frontal Cortex (BA9) (x5.6), Brain - Anterior cingulate cortex (BA24) (x4.5), Brain - Cortex (x4.4), and Brain - Hypothalamus (x4.2).

Protein differential expression in normal tissues from HIPED for NEFH Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NEFH: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia NEFH 36
  • 99 (a)
OneToOne
NEFH 35
  • 99.02 (n)
  • 98.73 (a)
cow
(Bos Taurus)
Mammalia NEFH 36
  • 81 (a)
OneToOne
NEFH 35
  • 87.03 (n)
  • 90.04 (a)
dog
(Canis familiaris)
Mammalia NEFH 35
  • 86.47 (n)
  • 89.25 (a)
NEFH 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nefh 16
Nefh 36
  • 76 (a)
OneToOne
Nefh 35
  • 82.42 (n)
  • 82.93 (a)
oppossum
(Monodelphis domestica)
Mammalia NEFH 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 22 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Nefh 35
  • 83.97 (n)
  • 85.86 (a)
chicken
(Gallus gallus)
Aves NEFH 35
  • 70.22 (n)
  • 70.72 (a)
NEFH 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEFH 36
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01079764.1 36
  • 32 (a)
ManyToMany
nefmb 36
  • 39 (a)
ManyToMany
ngs 36
  • 25 (a)
ManyToMany
si:dkey-27m7.4 36
  • 24 (a)
ManyToMany
wu:fb15e04 36
  • 17 (a)
ManyToMany
zgc:136930 36
  • 21 (a)
ManyToMany
zgc:172323 36
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ifa-1 36
  • 22 (a)
ManyToMany
ifa-3 36
  • 19 (a)
ManyToMany
ifa-4 36
  • 20 (a)
ManyToMany
ifb-1 36
  • 19 (a)
ManyToMany
ifb-2 36
  • 18 (a)
ManyToMany
ifc-1 36
  • 15 (a)
ManyToMany
ifc-2 36
  • 8 (a)
ManyToMany
ifd-1 36
  • 15 (a)
ManyToMany
ifd-2 36
  • 16 (a)
ManyToMany
mua-6 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
CSA.10989 36
  • 28 (a)
ManyToMany
CSA.8134 36
  • 26 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for NEFH (if available)
TreeFam:
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.org 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

P12036-NFH_HUMAN
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
rs165602 - 29,490,054(+) GAAGG(A/C/T)GGATG reference, missense
rs6006164 - 29,489,363(+) AATCT(C/T)CAGCT intron-variant, reference, missense
rs5763269 - 29,489,484(+) GTCAC(C/T)GGCTG intron-variant, reference, missense
rs165607 -- 29,481,428(+) GCGAC(C/T)CCACT intron-variant
rs165624 -- 29,488,578(+) ACCAG(C/T)TGTTC 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

Variation tolerance for NEFH Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.82; 86.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEFH Gene

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

Disorders for NEFH Gene

MalaCards: The human disease database

(12) MalaCards diseases for NEFH Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NEFH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NFH_HUMAN
  • 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.

Relevant External Links for NEFH

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

No data available for Genatlas for NEFH Gene

Publications for NEFH Gene

  1. 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 67
  2. Detection of phosphorylated NF-H in the cerebrospinal fluid and blood of aneurysmal subarachnoid hemorrhage patients. (PMID: 18319731) Lewis S.B. … Shaw G. (J. Cereb. Blood Flow Metab. 2008) 3 23
  3. 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
  4. Inhibition of Pin1 reduces glutamate-induced perikaryal accumulation of phosphorylated neurofilament-H in neurons. (PMID: 17626162) Kesavapany S. … Pant H.C. (Mol. Biol. Cell 2007) 3 23
  5. Phosphorylation state of the native high-molecular-weight neurofilament subunit protein from cervical spinal cord in sporadic amyotrophic lateral sclerosis. (PMID: 11238716) Strong M.J. … Pant H.C. (J. Neurochem. 2001) 3 23

Products for NEFH Gene

Sources for NEFH Gene

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