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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]
NEFH (Neurofilament Heavy) is a Protein Coding gene. Diseases associated with NEFH include Charcot-Marie-Tooth Disease, Axonal, Type 2Cc and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include protein kinase binding and microtubule binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005200 | structural constituent of cytoskeleton | ISS | -- |
GO:0005515 | protein binding | IPI | 32814053 |
GO:0008017 | microtubule binding | TAS | 17498690 |
GO:0019894 | kinesin binding | TAS | 17498690 |
GO:0019901 | protein kinase binding | IPI | 9313898 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,ISS | -- |
GO:0005856 | cytoskeleton | IDA | 24327345 |
GO:0005882 | intermediate filament | IEA | -- |
GO:0005883 | neurofilament | NAS | 3138108 |
GO:0014069 | postsynaptic density | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pathways of neurodegeneration - multiple diseases | ||
2 | Neuroscience | ||
3 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Neurofilaments
.32
|
|
4 | Amyotrophic lateral sclerosis (ALS) | ||
5 | Association Between Physico-Chemical Features and Toxicity Associated Pathways |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000226 | microtubule cytoskeleton organization | IEA | -- |
GO:0007409 | axonogenesis | TAS | 17498690 |
GO:0030031 | cell projection assembly | TAS | 17498690 |
GO:0033693 | neurofilament bundle assembly | IMP | 7536898 |
GO:0045104 | intermediate filament cytoskeleton organization | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NEFH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NEFH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NEFH 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nefh 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nefh 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NEFH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | NEFH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NEFH 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | nefmb 31 |
|
ManyToMany | |
CABZ01079764.1 31 |
|
ManyToMany | |||
ngs 31 |
|
ManyToMany | |||
si:dkey-27m7.4 31 |
|
ManyToMany | |||
zgc:136930 31 |
|
ManyToMany | |||
wu:fb15e04 31 |
|
ManyToMany | |||
zgc:172323 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ifa-1 31 |
|
ManyToMany | |
ifa-4 31 |
|
ManyToMany | |||
mua-6 31 |
|
ManyToMany | |||
ifa-3 31 |
|
ManyToMany | |||
ifb-1 31 |
|
ManyToMany | |||
ifb-2 31 |
|
ManyToMany | |||
ifd-2 31 |
|
ManyToMany | |||
ifc-1 31 |
|
ManyToMany | |||
ifd-1 31 |
|
ManyToMany | |||
ifc-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
CSA.10989 31 |
|
ManyToMany | |||
CSA.8134 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
870692 | Pathogenic: not provided | 29,490,693(+) |
A/AG NM_021076.4(NEFH):c.3057dup (p.Lys1020fs) |
FRAMESHIFT | |
956117 | Uncertain Significance: not provided | 29,489,103(+) |
G/A NM_021076.4(NEFH):c.1463G>A (p.Gly488Glu) |
MISSENSE | |
976269 | Uncertain Significance: Amyotrophic lateral sclerosis type 1 | 29,489,015(+) |
GAACA/G NM_021076.4(NEFH):c.1376_1379del (p.Glu459fs) |
FRAMESHIFT | |
981024 | Uncertain Significance: Amyotrophic lateral sclerosis | 29,489,649(+) |
T/A NM_021076.4(NEFH):c.2009T>A (p.Val670Glu) |
MISSENSE | |
988500 | Likely Pathogenic: not provided | 29,490,695(+) |
G/GGGAA NM_021076.4(NEFH):c.3057_3060dup (p.Ter1021GluextTer?) |
STOP_LOST,FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3647536 | CNV | gain | 21293372 |
esv3893473 | CNV | loss | 25118596 |
nsv1062039 | CNV | gain | 25217958 |
nsv1110864 | OTHER | inversion | 24896259 |
nsv438344 | CNV | loss | 16468122 |
nsv524511 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, axonal, type 2cc |
|
|
amyotrophic lateral sclerosis 1 |
|
|
lateral sclerosis |
|
|
hereditary motor and sensory neuropathy, type iic |
|
|
motor neuron disease |
|
|