NEFH |
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Identifiers |
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Aliases | NEFH, NFH, CMT2CC, neurofilament, heavy polypeptide, neurofilament heavy, neurofilament heavy chain |
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External IDs | OMIM: 162230; MGI: 97309; HomoloGene: 40755; GeneCards: NEFH; OMA:NEFH - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 22 (human)[1] |
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| Band | 22q12.2 | Start | 29,480,218 bp[1] |
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End | 29,491,390 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 11 (mouse)[2] |
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| Band | 11 A1|11 3.12 cM | Start | 4,888,754 bp[2] |
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End | 4,898,064 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - spinal ganglia
- pons
- lateral nuclear group of thalamus
- Brodmann area 23
- Pars compacta
- pars reticulata
- superior vestibular nucleus
- external globus pallidus
- trigeminal ganglion
- endothelial cell
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| Top expressed in | - anterior horn of spinal cord
- facial motor nucleus
- motor neuron
- pontine nuclei
- deep cerebellar nuclei
- medial vestibular nucleus
- lateral geniculate nucleus
- dorsal tegmental nucleus
- medial geniculate nucleus
- central gray substance of midbrain
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - protein-macromolecule adaptor activity
- microtubule binding
- structural molecule activity
- structural constituent of cytoskeleton
- kinesin binding
- protein kinase binding
- dynein complex binding
- structural constituent of postsynaptic intermediate filament cytoskeleton
| Cellular component | - neurofilament
- neurofibrillary tangle
- myelin sheath
- axon
- mitochondrion
- intermediate filament
- cytoplasm
- postsynaptic density
- cytoskeleton
- Schaffer collateral - CA1 synapse
- postsynaptic intermediate filament cytoskeleton
| Biological process | - axon development
- intermediate filament bundle assembly
- axonogenesis
- neurofilament bundle assembly
- cell projection assembly
- regulation of organelle transport along microtubule
- intermediate filament cytoskeleton organization
- peripheral nervous system neuron axonogenesis
- neurofilament cytoskeleton organization
- microtubule cytoskeleton organization
- cellular response to leukemia inhibitory factor
- postsynaptic intermediate filament cytoskeleton organization
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 22: 29.48 – 29.49 Mb | Chr 11: 4.89 – 4.9 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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