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Gene: NEFH (neurofilament heavy) Homo sapiens
Symbol: NEFH
Name: neurofilament heavy
Description: Exhibits protein kinase binding activity. Involved in axon development; neurofilament bundle assembly; and regulation of organelle transport along microtubule. Localizes to cytoplasm; cytoskeleton; and neurofibrillary tangle. Implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Biomarker of autoimmune optic neuritis; multiple sclerosis; neuromyelitis optica; optic neuritis; and relapsing-remitting multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 200 kDa neurofilament protein; CMT2CC; neurofilament heavy polypeptide; neurofilament triplet H protein; neurofilament, heavy polypeptide; neurofilament, heavy polypeptide 200kDa; NF-H; NFH
Mus musculus (house mouse) : Nefh (neurofilament, heavy polypeptide)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nefh (neurofilament heavy)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nefh (neurofilament heavy)
Pan paniscus (bonobo/pygmy chimpanzee) : NEFH (neurofilament heavy)
Canis lupus familiaris (dog) : NEFH (neurofilament heavy)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nefh (neurofilament heavy)
Sus scrofa (pig) : NEFH (neurofilament heavy)
Chlorocebus sabaeus (African green monkey) : NEFH (neurofilament heavy)
Heterocephalus glaber (naked mole-rat) : Nefh (neurofilament heavy)
more info ...
Related Pseudogenes: AL049812.1   NEFHP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl2229,480,218 - 29,491,390 (+)EnsemblGRCh38hg38GRCh38
GRCh382229,480,218 - 29,491,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372229,876,181 - 29,887,279 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,206,219 - 28,217,279 (+)NCBINCBI36hg18NCBI36
Build 342228,200,772 - 28,211,829NCBI
Celera2213,676,024 - 13,687,118 (+)NCBI
Cytogenetic Map22q12.2NCBI
HuRef2212,839,995 - 12,851,105 (+)NCBIHuRef
CHM1_12229,835,584 - 29,846,662 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on NEFH
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 736723
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.