NEFH [The Human Chemical-Genetic Interaction Map Project]

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======= NEFH =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NEFH
  * **<color #00a2e8>Official Name</color>**: neurofilament heavy
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4744|4744]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P12036|P12036]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NEFH&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NEFH|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/162230|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|DUF1388|
|Filament|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|postsynaptic intermediate filament cytoskeleton|
|peripheral nervous system neuron axonogenesis|
|neurofilament bundle assembly|
|postsynaptic intermediate filament cytoskeleton organization|
|structural constituent of postsynaptic intermediate filament cytoskeleton|
|neurofibrillary tangle|
|intermediate filament bundle assembly|
|neurofilament|
|neurofilament cytoskeleton organization|
|regulation of organelle transport along microtubule|
|peripheral nervous system neuron differentiation|
|peripheral nervous system neuron development|
|postsynaptic cytoskeleton organization|
|dynein complex binding|
|intermediate filament organization|
|regulation of microtubule-based movement|
|kinesin binding|
|intermediate filament cytoskeleton organization|
|intermediate filament-based process|
|peripheral nervous system development|
|protein binding, bridging|
|Schaffer collateral - CA1 synapse|
|postsynapse organization|
|cellular response to leukemia inhibitory factor|
|response to leukemia inhibitory factor|
|structural constituent of cytoskeleton|
|regulation of microtubule-based process|
|microtubule binding|
|postsynaptic density|
|synapse organization|
|axon|
|regulation of intracellular transport|
|cytoskeleton|
|axonogenesis|
|axon development|
|cell morphogenesis involved in neuron differentiation|
|supramolecular fiber organization|
|cell projection assembly|
|protein kinase binding|
|microtubule cytoskeleton organization|
|neuron projection morphogenesis|
|plasma membrane bounded cell projection morphogenesis|
|cell projection morphogenesis|
|cell part morphogenesis|
|cell morphogenesis involved in differentiation|
|neuron projection development|
|microtubule-based process|
|cell morphogenesis|
|neuron development|
|cellular component morphogenesis|
|regulation of cellular localization|
|regulation of cellular component movement|
|cellular response to cytokine stimulus|
|neuron differentiation|
|response to cytokine|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|generation of neurons|
|neurogenesis|
|cell development|
|regulation of transport|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.597|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 14083
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.28 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NEFH Expression in NALM6 Cells: -2.28'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>