NEFH neurofilament heavy chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEFHprovided by HGNC
Official Full Name: neurofilament heavy chainprovided by HGNC
Primary source: HGNC:HGNC:7737
See related: Ensembl:ENSG00000100285 MIM:162230; AllianceGenome:HGNC:7737
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NFH; CMT2CC
Summary: 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]
Expression: Biased expression in prostate (RPKM 140.1), brain (RPKM 16.4) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (29480218..29491390)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (29943567..29954761)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (29876207..29887379)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder.
Title: Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder.
Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.
Title: Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Title: An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Title: Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury.
Title: Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury.
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study.
Title: Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study.
A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.
Title: A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.
Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells.
Title: Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells.
association of high preoperative serum level with postoperative cognitive dysfunction following hip arthroplasty suggests close association between anatomical central nervous system damage and postoperative cognitive dysfunction
Title: Serum Phosphorylated Neurofilament Heavy Subunit-H, a Potential Predictive Biomarker for Postoperative Cognitive Dysfunction in Elderly Subjects Undergoing Hip Joint Arthroplasty.
Serum pNF-H could be an objective delirium biomarker, superior to conventional tools in clinical settings.
Title: Dysfunction of the blood-brain barrier in postoperative delirium patients, referring to the axonal damage biomarker phosphorylated neurofilament heavy subunit.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis type 1 MedGen: C1862939 OMIM: 105400 GeneReviews: Amyotrophic Lateral Sclerosis Overview	Compare labs
Charcot-Marie-Tooth disease axonal type 2CC MedGen: C4310790 OMIM: 616924 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein complex binding	TAS Traceable Author Statement more info	PubMed
enables kinesin binding	TAS Traceable Author Statement more info	PubMed
enables microtubule binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables structural constituent of cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
enables structural constituent of postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell projection assembly	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in neurofilament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurofilament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system neuron axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of organelle transport along microtubule	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	TAS Traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in neurofibrillary tangle	IDA Inferred from Direct Assay more info	PubMed
is_active_in neurofilament	IBA Inferred from Biological aspect of Ancestor more info
located_in neurofilament	NAS Non-traceable Author Statement more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in postsynaptic intermediate filament cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neurofilament heavy polypeptide

Names: 200 kDa neurofilament protein; NF-H; neurofilament triplet H protein; neurofilament, heavy polypeptide 200kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008404.1 RefSeqGene

Range

5027..16199

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021076.4 → NP_066554.2 neurofilament heavy polypeptide

See identical proteins and their annotated locations for NP_066554.2

Status: REVIEWED

Source sequence(s)

AC000035, AF203032

Consensus CDS

CCDS13858.1

UniProtKB/Swiss-Prot

B4DYY4, P12036, Q96HF8, Q9UJS7, Q9UQ14

Related

ENSP00000311997.6, ENST00000310624.7

Conserved Domains (2) summary

PTZ00121
Location:290 → 1014

PTZ00121; MAEBL; Provisional

pfam00038
Location:96 → 412

Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

29480218..29491390

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011530200.3 → XP_011528502.1 neurofilament heavy polypeptide isoform X1

UniProtKB/Swiss-Prot

B4DYY4, P12036, Q96HF8, Q9UJS7, Q9UQ14

Conserved Domains (2) summary

pfam00038
Location:96 → 412

Filament; Intermediate filament protein

pfam07142
Location:536 → 562

DUF1388; Repeat of unknown function (DUF1388)