I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| retinal ganglion cell | 5 studies | 81% ± 20% | |
| GABAergic neuron | 4 studies | 27% ± 9% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| retinal ganglion cell | 5 studies | 81% ± 20% | |
| GABAergic neuron | 4 studies | 27% ± 9% |
Insufficient scRNA-seq data for expression of NEFH at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| adrenal gland | 100% | 3706.47 | 258 / 258 | 88% | 55.76 | 203 / 230 |
| prostate | 93% | 26493.22 | 228 / 245 | 92% | 447.14 | 461 / 502 |
| brain | 93% | 5628.19 | 2468 / 2642 | 55% | 16.73 | 387 / 705 |
| ovary | 96% | 2256.07 | 172 / 180 | 37% | 10.86 | 159 / 430 |
| tonsil | 0% | 0 | 0 / 0 | 56% | 45.03 | 25 / 45 |
| skin | 17% | 108.63 | 313 / 1809 | 32% | 13.63 | 150 / 472 |
| eye | 0% | 0 | 0 / 0 | 49% | 8.50 | 39 / 80 |
| uterus | 2% | 9.90 | 4 / 170 | 42% | 28.98 | 194 / 459 |
| breast | 2% | 107.59 | 10 / 459 | 29% | 6.73 | 323 / 1118 |
| esophagus | 19% | 113.96 | 281 / 1445 | 2% | 0.36 | 4 / 183 |
| intestine | 20% | 92.78 | 191 / 966 | 1% | 0.47 | 7 / 527 |
| spleen | 14% | 61.54 | 33 / 241 | 0% | 0 | 0 / 0 |
| lung | 0% | 1.17 | 2 / 578 | 13% | 5.85 | 150 / 1155 |
| pancreas | 0% | 0 | 0 / 328 | 12% | 1.03 | 21 / 178 |
| stomach | 8% | 40.63 | 30 / 359 | 2% | 0.97 | 7 / 286 |
| peripheral blood | 9% | 100.51 | 81 / 929 | 0% | 0 | 0 / 0 |
| kidney | 4% | 23.04 | 4 / 89 | 2% | 0.86 | 20 / 901 |
| bladder | 0% | 0 | 0 / 21 | 4% | 1.74 | 22 / 504 |
| lymph node | 0% | 0 | 0 / 0 | 3% | 0.23 | 1 / 29 |
| thymus | 0% | 3.51 | 3 / 653 | 3% | 0.85 | 17 / 605 |
| liver | 0% | 1.54 | 1 / 226 | 1% | 0.55 | 6 / 406 |
| adipose | 1% | 5.12 | 12 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 1% | 4.19 | 8 / 1335 | 0% | 0 | 0 / 0 |
| heart | 0% | 1.49 | 2 / 861 | 0% | 0 | 0 / 0 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| muscle | 0% | 0 | 0 / 803 | 0% | 0 | 0 / 0 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0061564 | Biological process | axon development |
| GO_0060052 | Biological process | neurofilament cytoskeleton organization |
| GO_1990830 | Biological process | cellular response to leukemia inhibitory factor |
| GO_0030031 | Biological process | cell projection assembly |
| GO_0048936 | Biological process | peripheral nervous system neuron axonogenesis |
| GO_0007409 | Biological process | axonogenesis |
| GO_0033693 | Biological process | neurofilament bundle assembly |
| GO_0045110 | Biological process | intermediate filament bundle assembly |
| GO_0000226 | Biological process | microtubule cytoskeleton organization |
| GO_0099170 | Biological process | postsynaptic modulation of chemical synaptic transmission |
| GO_0099185 | Biological process | postsynaptic intermediate filament cytoskeleton organization |
| GO_1902513 | Biological process | regulation of organelle transport along microtubule |
| GO_0005856 | Cellular component | cytoskeleton |
| GO_0098685 | Cellular component | Schaffer collateral - CA1 synapse |
| GO_0097418 | Cellular component | neurofibrillary tangle |
| GO_0005883 | Cellular component | neurofilament |
| GO_0099160 | Cellular component | postsynaptic intermediate filament cytoskeleton |
| GO_0014069 | Cellular component | postsynaptic density |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0030424 | Cellular component | axon |
| GO_0005200 | Molecular function | structural constituent of cytoskeleton |
| GO_0019901 | Molecular function | protein kinase binding |
| GO_0030674 | Molecular function | protein-macromolecule adaptor activity |
| GO_0008017 | Molecular function | microtubule binding |
| GO_0070840 | Molecular function | dynein complex binding |
| GO_0005515 | Molecular function | protein binding |
| GO_0099184 | Molecular function | structural constituent of postsynaptic intermediate filament cytoskeleton |
| GO_0019894 | Molecular function | kinesin binding |
| Gene name | NEFH |
| Protein name | Neurofilament heavy polypeptide (NF-H) (200 kDa neurofilament protein) (Neurofilament triplet H protein) Neurofilament heavy subunit |
| Synonyms | NFH KIAA0845 |
| Description | FUNCTION: Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity). . |
| Accessions | ENST00000310624.7 Q16070 P12036 |
