Nefh (neurofilament heavy chain) - Rat Genome Database

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Gene: Nefh (neurofilament heavy chain) Rattus norvegicus
Analyze
Symbol: Nefh
Name: neurofilament heavy chain
RGD ID: 3159
Description: Enables protein-macromolecule adaptor activity and toxic substance binding activity. A structural constituent of cytoskeleton. Involved in several processes, including cellular response to estradiol stimulus; nervous system development; and ovarian follicle atresia. Located in several cellular components, including dendrite; intermediate filament; and perikaryon. Used to study congenital hypothyroidism. Biomarker of glaucoma; hypothyroidism; phenylketonuria; sciatic neuropathy; and transient cerebral ischemia. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Orthologous to human NEFH (neurofilament heavy chain); PARTICIPATES IN amyotrophic lateral sclerosis pathway; INTERACTS WITH (-)-anisomycin; (R)-adrenaline; (R,R,R)-alpha-tocopherol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 200 kDa neurofilament protein; neurofilament heavy; neurofilament heavy polypeptide; neurofilament triplet H protein; neurofilament, heavy polypeptide; NF-H; Nfh
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81484,044,428 - 84,054,413 (-)NCBIGRCr8
mRatBN7.21479,830,362 - 79,840,347 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1479,830,362 - 79,840,351 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1484,232,750 - 84,242,741 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01485,472,824 - 85,482,815 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01481,922,138 - 81,932,117 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01485,181,572 - 85,191,557 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1485,181,572 - 85,191,557 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01485,859,193 - 85,869,187 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41485,594,789 - 85,604,774 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11485,614,415 - 85,623,919 (-)NCBI
Celera1478,720,827 - 78,730,812 (-)NCBICelera
Cytogenetic Map14q21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Original Reference(s)
NefhRatamyotrophic lateral sclerosis treatmentISONefh (Mus musculus)13525000 RGD 
NefhRatamyotrophic lateral sclerosis  ISONEFH (Homo sapiens)1302518DNA:deletions:cds:multiple (human)RGD 
NefhRatAnti-N-Methyl-D-Aspartate Receptor Encephalitis treatmentISONEFH (Homo sapiens)27226816 RGD 
NefhRatautoimmune optic neuritis severityISONEFH (Homo sapiens)27226805 RGD 
NefhRatBilateral Hearing Loss disease_progressionIEP 27372873 RGD 
NefhRatChronic Relapsing Experimental Autoimmune Encephalomyelitis  ISONefh (Mus musculus)27226817protein:decreased expression:spinal cord:RGD 
NefhRatcongenital hypothyroidism  IDA 9693732protein:decreased expression and increased phosphorylationRGD 
NefhRatCreutzfeldt-Jakob disease  ISONEFH (Homo sapiens)127284887protein:increased expression:CSF (human)RGD 
NefhRatepilepsy with generalized tonic-clonic seizures  ISONEFH (Homo sapiens)7257648protein:increased expression:cerebral spinal fluidRGD 
NefhRatExperimental Diabetes Mellitus treatmentIEP 9698428 RGD 
NefhRatglaucoma  IEP 27226819protein:decreased expression:optic nerve:RGD 
NefhRatHyperalgesia treatmentIEP 27226885 RGD 
NefhRathypothyroidism treatmentIEP 9743942 RGD 
NefhRatmiddle cerebral artery infarction  ISONefh (Mus musculus)27226878 RGD 
NefhRatmonoclonal gammopathy of uncertain significance  ISONEFH (Homo sapiens)9693726associated with Peripheral Nervous System DiseasesRGD 
NefhRatmultiple sclerosis severityISONEFH (Homo sapiens)27226808 RGD 
NefhRatNerve Injuries treatmentIEP 27226886 RGD 
NefhRatneuromyelitis optica  ISONEFH (Homo sapiens)27226805protein:increased expression:serum:RGD 
NefhRatoptic neuritis  ISONEFH (Homo sapiens)27226813protein:increased expression:serum:RGD 
NefhRatoptic neuritis severityISONEFH (Homo sapiens)27226814 RGD 
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Original Reference(s)
NefhRatamyotrophic lateral sclerosis  ISONEFH (Homo sapiens)8554872ClinVar more ...ClinVarPMID:25741868 more ...
NefhRatamyotrophic lateral sclerosis type 1  ISONEFH (Homo sapiens)8554872ClinVar more ...ClinVarPMID:25741868 more ...
NefhRatamyotrophic lateral sclerosis type 1  ISONEFH (Homo sapiens)8554872ClinVar more ...ClinVarPMID:25741868 more ...
NefhRatBreast Cancer, Familial  ISONEFH (Homo sapiens)8554872ClinVar Annotator: match by term: Familial cancer of breastClinVarPMID:16551709 more ...
NefhRatCharcot-Marie-Tooth disease axonal type 2C  ISONEFH (Homo sapiens)8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CClinVarPMID:25741868
NefhRatCharcot-Marie-Tooth disease axonal type 2CC  ISONEFH (Homo sapiens)8554872ClinVar more ...ClinVarPMID:25741868 more ...
NefhRatgenetic disease  ISONEFH (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:17576681 more ...
NefhRatneuropathy  ISONEFH (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVarPMID:28492532
NefhRatperipheral nervous system disease  ISONEFH (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVarPMID:28492532
NefhRatvestibular schwannomatosis  ISONEFH (Homo sapiens)8554872ClinVar Annotator: match by term: Neurofibromatosis and type 2ClinVarPMID:10220142 more ...
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Original Reference(s)
NefhRatamyotrophic lateral sclerosis type 1  ISONEFH (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTD 
NefhRatperipheral nervous system disease  ISONEFH (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:10447555
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Original Reference(s)
NefhRatamyotrophic lateral sclerosis type 1 susceptibilityISONEFH (Homo sapiens)7240710 OMIM 
NefhRatCharcot-Marie-Tooth disease axonal type 2CC susceptibilityISONEFH (Homo sapiens)7240710 OMIM 

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Original Reference(s)
NefhRat(-)-anisomycin decreases degradationEXP 6480464Anisomycin results in decreased degradation of NEFH mRNACTDPMID:1280263
NefhRat(R)-adrenaline affects expressionEXP 6480464Epinephrine affects the expression of NEFH mRNACTDPMID:22954530
NefhRat(R,R,R)-alpha-tocopherol increases expressionEXP 6480464alpha-Tocopherol results in increased expression of NEFH protein modified formCTDPMID:18942769
NefhRat1,2-dichlorobenzene affects expressionEXP 64804642-dichlorobenzene affects the expression of NEFH mRNACTDPMID:22954530
NefhRat1-chloro-2,4-dinitrobenzene affects bindingISONEFH (Homo sapiens)6480464Dinitrochlorobenzene binds to NEFH proteinCTDPMID:32991956
NefhRat17alpha-ethynylestradiol affects expressionEXP 6480464Ethinyl Estradiol affects the expression of NEFH mRNACTDPMID:22954530
NefhRat17beta-estradiol affects expressionISONEFH (Homo sapiens)6480464Estradiol affects the expression of NEFH mRNACTDPMID:14699072
NefhRat17beta-estradiol multiple interactionsISONEFH (Homo sapiens)6480464[Estradiol binds to ESR2 protein] which results in increased expression of NEFH mRNACTDPMID:20404318
NefhRat2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISONefh (Mus musculus)6480464[2 more ...CTDPMID:25510870
NefhRat2,2',4,4'-Tetrabromodiphenyl ether decreases expressionEXP 64804642 more ...CTDPMID:33078273
NefhRat2,2',5,5'-tetrachlorobiphenyl multiple interactionsISONefh (Mus musculus)6480464[2 more ...CTDPMID:25510870
NefhRat2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of NEFH mRNACTDPMID:32109520
NefhRat2,5-hexanedione decreases expressionEXP 64804642 and 5-hexanedione results in decreased expression of NEFH proteinCTDPMID:19033394
NefhRat3,3',4,4',5-pentachlorobiphenyl decreases expressionISONEFH (Homo sapiens)64804643 more ...CTDPMID:23146750
NefhRat3,3',5,5'-tetrabromobisphenol A affects expressionEXP 6480464tetrabromobisphenol A affects the expression of NEFH mRNACTDPMID:22954530
NefhRat3,4-methylenedioxymethamphetamine decreases expressionEXP 6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of NEFH proteinCTDPMID:26068050
NefhRat3-methyladenine multiple interactionsISONEFH (Homo sapiens)64804643-methyladenine inhibits the reaction [tri-o-cresyl phosphate results in decreased expression of NEFH protein]CTDPMID:23743148
NefhRat5-aza-2'-deoxycytidine multiple interactionsISONEFH (Homo sapiens)6480464Decitabine inhibits the reaction [Smoke results in decreased expression of NEFH mRNA]CTDPMID:21095227
NefhRat5-aza-2'-deoxycytidine affects expressionISONEFH (Homo sapiens)6480464Decitabine affects the expression of NEFH mRNACTDPMID:17145863
NefhRat6-propyl-2-thiouracil decreases expressionEXP 6480464Propylthiouracil results in decreased expression of NEFH mRNACTDPMID:24780913 and PMID:25825206

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Biological Process
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Original Reference(s)
NefhRataxon development involved_inISONefh (Mus musculus)1624291 PMID:9763431RGDPMID:9763431
NefhRataxon development involved_inIEAUniProtKB:P12036 and ensembl:ENSP000003119971600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRataxon development involved_inIEAUniProtKB:P19246 and ensembl:ENSMUSP000000910611600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRataxon development involved_inIBAMGI:97309 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
NefhRataxon development involved_inISONEFH (Homo sapiens)1624291 PMID:7536898RGDPMID:7536898
NefhRataxon regeneration  IDA 9698439 RGD 
NefhRatcellular response to estradiol stimulus  IEP 9698429 RGD 
NefhRatcellular response to hydroperoxide  IEP 27372875 RGD 
NefhRatcellular response to leukemia inhibitory factor acts_upstream_of_or_withinISONefh (Mus musculus)1624291 PMID:20439489RGDPMID:20439489
NefhRatcellular response to leukemia inhibitory factor acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP000000910611600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRatcellular response to oxidative stress  IEP 9698429 RGD 
NefhRatcerebral cortex development  IEP 9743942 RGD 
NefhRathippocampus development  IEP 9743946 RGD 
NefhRatintermediate filament bundle assembly involved_inIGIUniProtKB:P085518554743PMID:11034913BHF-UCL 
NefhRatintermediate filament bundle assembly acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP000000910611600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRatintermediate filament bundle assembly acts_upstream_of_or_withinISONefh (Mus musculus)1624291MGI:97313 more ...RGDPMID:10461886
NefhRatintermediate filament bundle assembly involved_inIBAMGI:97309 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
NefhRatintermediate filament cytoskeleton organization acts_upstream_of_or_withinISONefh (Mus musculus)1624291MGI:2183246 PMID:14561875RGDPMID:14561875
NefhRatintermediate filament cytoskeleton organization acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP000000910611600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRatmicrotubule cytoskeleton organization acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP000000910611600115GO_REF:0000107EnsemblGO_REF:0000107
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Cellular Component
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Original Reference(s)
NefhRatapical dendrite  IDA 27372873MMO:0000538RGD 
NefhRataxon  IDA 9693700 RGD 
NefhRataxon is_active_inIBAMGI:97309 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
NefhRataxon located_inIEAUniProtKB-SubCell:SL-02791600115GO_REF:0000044UniProtGO_REF:0000044
NefhRataxon located_inIEAUniProtKB:P19246 and ensembl:ENSMUSP000000910611600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRataxon located_inISONefh (Mus musculus)1624291 PMID:25631124 and PMID:8110465RGDPMID:25631124 and PMID:8110465
NefhRataxon located_inIDA 8554416PMID:21119615MGI 
NefhRatbasal proximal dendrite  IDA 27372873MMO:0000538RGD 
NefhRatcell projection located_inIEAUniProtKB-KW:KW-09661600115GO_REF:0000043UniProtGO_REF:0000043
NefhRatcytoplasm located_inIDA 8554743PMID:11034913BHF-UCL 
NefhRatcytoplasm located_inIEAUniProtKB:P12036 and ensembl:ENSP000003119971600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRatcytoplasm located_inIEAUniProtKB-KW:KW-09631600115GO_REF:0000043UniProtGO_REF:0000043
NefhRatcytoplasm located_inISONEFH (Homo sapiens)1624291 PMID:27040688RGDPMID:27040688
NefhRatcytoskeleton located_inIEAUniProtKB-KW:KW-02061600115GO_REF:0000043UniProtGO_REF:0000043
NefhRatcytoskeleton located_inISONEFH (Homo sapiens)1624291 PMID:24327345RGDPMID:24327345
NefhRatcytoskeleton located_inIEAUniProtKB-SubCell:SL-00901600115GO_REF:0000044UniProtGO_REF:0000044
NefhRatcytoskeleton located_inIEAUniProtKB:P12036 and ensembl:ENSP000003119971600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRatintermediate filament  IDA 729261 RGD 
NefhRatintermediate filament located_inIEAUniProtKB-KW:KW-04031600115GO_REF:0000043UniProtGO_REF:0000043
NefhRatintermediate filament located_inIDA 8554743PMID:11034913BHF-UCL 
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Molecular Function
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Original Reference(s)
NefhRatprotein binding enablesISONEFH (Homo sapiens)1624291UniProtKB:P05067 more ...RGDPMID:32814053
NefhRatprotein kinase binding enablesISONEFH (Homo sapiens)1624291UniProtKB:Q03114 more ...RGDPMID:24327345 and PMID:9313898
NefhRatprotein kinase binding enablesIEAUniProtKB:P12036 and ensembl:ENSP000003119971600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRatprotein-containing complex binding  IDA 9743943heterodimerizationRGD 
NefhRatprotein-macromolecule adaptor activity enablesIDA 8554743PMID:11034913BHF-UCL 
NefhRatstructural constituent of cytoskeleton enablesIDA 8554743PMID:11034913BHF-UCL 
NefhRatstructural constituent of cytoskeleton enablesIEAUniProtKB:P12036 and ensembl:ENSP000003119971600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRatstructural constituent of cytoskeleton enablesISONEFH (Homo sapiens)1624291 PMID:7536898RGDPMID:7536898
NefhRatstructural constituent of postsynaptic intermediate filament cytoskeleton enablesIBAMGI:97309 and PANTHER:PTN0027552331600115GO_REF:0000033GO_CentralGO_REF:0000033
NefhRatstructural constituent of postsynaptic intermediate filament cytoskeleton enablesIEAUniProtKB:P19246 and ensembl:ENSMUSP000000910611600115GO_REF:0000107EnsemblGO_REF:0000107
NefhRatstructural constituent of postsynaptic intermediate filament cytoskeleton enablesISONefh (Mus musculus)1624291 PMID:25869803RGDPMID:25869803
NefhRattoxic substance binding  IDA 97439402 and 5-hexanedioneRGD 
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Imported Annotations - KEGG (archival)

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Original Reference(s)
NefhRatamyotrophic lateral sclerosis pathway  IEArno:050306907045 KEGGrno:05014

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#
Reference Title
Reference Citation
1. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Al-Chalabi A, etal., Hum Mol Genet 1999 Feb;8(2):157-64.
2. Heterodimeric associations between neuronal intermediate filament proteins. Athlan ES and Mushynski WE, J Biol Chem. 1997 Dec 5;272(49):31073-8.
3. Involvement of microglia in early axoglial alterations of the optic nerve induced by experimental glaucoma. Bordone MP, etal., J Neurochem. 2017 Jul;142(2):323-337. doi: 10.1111/jnc.14070. Epub 2017 Jun 9.
4. Partial sequence of the rat heavy neurofilament polypeptide (NF-H). Identification of putative phosphorylation sites [published erratum appears in FEBS Lett 1989 Feb 27;244(2):509] Breen KC, etal., FEBS Lett 1988 Dec 5;241(1-2):213-8.
5. Effects of brain ischemia on intermediate filaments of rat hippocampus. Camargo-De-Morais M, etal., Neurochem Res. 1996 May;21(5):595-602.
6. The C-terminal tail domain of neurofilament protein-H (NF-H) forms the crossbridges and regulates neurofilament bundle formation. Chen J, etal., J Cell Sci. 2000 Nov;113 Pt 21:3861-9.
7. Oxidative stress and 17-alpha- and 17-beta-estradiol modulate neurofilaments differently. Chiasson K, etal., J Mol Neurosci. 2006;30(3):297-310.
8. Transfected rat high-molecular-weight neurofilament (NF-H) coassembles with vimentin in a predominantly nonphosphorylated form. Chin SS and Liem RK, J Neurosci 1990 Nov;10(11):3714-26.
9. The large neurofilament subunit (NF-H) of the rat: cDNA cloning and in situ detection. Dautigny A, etal., Biochem Biophys Res Commun 1988 Aug 15;154(3):1099-106.
10. Regioselective binding of 2,5-hexanedione to high-molecular-weight rat neurofilament proteins in vitro. DeCaprio AP, etal., Toxicol Appl Pharmacol. 1997 Jul;145(1):211-7.
11. The prognostic value of neurofilament levels in patients with sepsis-associated encephalopathy - A prospective, pilot observational study. Ehler J, etal., PLoS One. 2019 Jan 24;14(1):e0211184. doi: 10.1371/journal.pone.0211184. eCollection 2019.
12. Requirement of heavy neurofilament subunit in the development of axons with large calibers. Elder GA, etal., J Cell Biol 1998 Oct 5;143(1):195-205.
13. NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth. Garcia ML, etal., J Cell Biol 2003 Dec 8;163(5):1011-20.
14. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
15. Perikaryal accumulation and proteolysis of neurofilament proteins in the post-mortem rat brain. Geddes JW, etal., Neurobiol Aging. 1995 Jul-Aug;16(4):651-60.
16. Regulation of neurofilament gene expression by thyroid hormone in the developing rat brain. Ghosh S, etal., Neuroreport. 1999 Aug 2;10(11):2361-5.
17. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
18. mRNA levels of all three neurofilament proteins decline following nerve transection. Goldstein ME, etal., Brain Res. 1988 Jun;427(3):287-91.
19. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
20. Spontaneous perikaryal neurofilament phosphorylation in the septofimbrial nucleus of the rat. Klosen P and van den Bosch de Aguilar P, Neurosci Lett. 1992 May 11;139(1):108-13.
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PMID:2878828   PMID:7536898   PMID:8110465   PMID:8634266   PMID:9313898   PMID:10221457   PMID:10461886   PMID:12130654   PMID:14561875   PMID:14651853   PMID:15248193   PMID:17114649  
PMID:17626162   PMID:17634366   PMID:18434031   PMID:18498707   PMID:18635547   PMID:18729720   PMID:20176735   PMID:20439489   PMID:20633607   PMID:20805831   PMID:21515322   PMID:21828286  
PMID:22763971   PMID:24327345   PMID:25452168   PMID:25869803   PMID:27040688   PMID:28259758   PMID:29476059   PMID:32357304  



Nefh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81484,044,428 - 84,054,413 (-)NCBIGRCr8
mRatBN7.21479,830,362 - 79,840,347 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1479,830,362 - 79,840,351 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1484,232,750 - 84,242,741 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01485,472,824 - 85,482,815 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01481,922,138 - 81,932,117 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01485,181,572 - 85,191,557 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1485,181,572 - 85,191,557 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01485,859,193 - 85,869,187 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41485,594,789 - 85,604,774 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11485,614,415 - 85,623,919 (-)NCBI
Celera1478,720,827 - 78,730,812 (-)NCBICelera
Cytogenetic Map14q21NCBI
NEFH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382229,480,218 - 29,491,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2229,480,218 - 29,491,390 (+)EnsemblGRCh38hg38GRCh38
GRCh372229,876,207 - 29,887,379 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,206,219 - 28,217,279 (+)NCBINCBI36Build 36hg18NCBI36
Build 342228,200,772 - 28,211,829NCBI
Celera2213,676,024 - 13,687,118 (+)NCBICelera
Cytogenetic Map22q12.2NCBI
HuRef2212,839,995 - 12,851,105 (+)NCBIHuRef
CHM1_12229,835,584 - 29,846,662 (+)NCBICHM1_1
T2T-CHM13v2.02229,943,567 - 29,954,761 (+)NCBIT2T-CHM13v2.0
Nefh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39114,888,754 - 4,898,064 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl114,888,754 - 4,898,064 (-)EnsemblGRCm39 Ensembl
GRCm38114,938,754 - 4,948,064 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl114,938,754 - 4,948,064 (-)EnsemblGRCm38mm10GRCm38
MGSCv37114,838,757 - 4,848,067 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36114,838,761 - 4,851,268 (-)NCBIMGSCv36mm8
Celera115,436,254 - 5,444,974 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.12NCBI
Nefh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554553,735,410 - 3,744,107 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554553,735,330 - 3,744,714 (+)NCBIChiLan1.0ChiLan1.0
NEFH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22339,453,989 - 39,465,030 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12242,155,232 - 42,166,273 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02210,525,738 - 10,536,788 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12228,331,778 - 28,341,874 (+)NCBIpanpan1.1PanPan1.1panPan2
NEFH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12622,726,523 - 22,735,129 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2622,726,526 - 22,735,125 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2622,598,106 - 22,606,671 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02623,100,617 - 23,109,200 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2623,100,626 - 23,109,200 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12622,810,029 - 22,818,553 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02623,073,295 - 23,081,873 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02623,138,184 - 23,146,781 (+)NCBIUU_Cfam_GSD_1.0
Nefh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118112,417,611 - 112,427,289 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366573,443,485 - 3,453,133 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366573,443,406 - 3,453,096 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEFH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1446,559,860 - 46,568,088 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11446,559,698 - 46,568,686 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21449,572,997 - 49,583,859 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NEFH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11912,357,982 - 12,375,449 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666045113,778,644 - 113,789,304 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nefh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247475,806,645 - 5,815,554 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247475,806,576 - 5,816,158 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in Nefh
46 total Variants

Predicted Target Of
Summary Value
Count of predictions:72
Count of miRNA genes:60
Interacting mature miRNAs:68
Transcripts:ENSRNOT00000011604
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 23 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
2313089Bss81Bone structure and strength QTL 813.40.0001body length (VT:0001256)body length, nose to rump (CMO:0000079)143766971982669719Rat
9590294Uminl4Urine mineral level QTL 45.660.001urine mineral amount (VT:0015086)urine electrolyte level (CMO:0000593)1455624247100624247Rat
1582236Gluco22Glucose level QTL 223.30.0164blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)147341532392554092Rat
2300197Scl59Serum cholesterol level QTL 59blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)1455147478100147478Rat
70153Bp59Blood pressure QTL 593.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)146875779683368335Rat
70187Pancm5Pancreatic morphology QTL 516.7pancreas mass (VT:0010144)pancreas weight to body weight ratio (CMO:0000630)143032009280829842Rat
631523Pia13Pristane induced arthritis QTL 133.3joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)144079346098037301Rat
1582259Gluco23Glucose level QTL 233.10.0008blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1470053989104886043Rat
1582197Gluco27Glucose level QTL 273.40.0006blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)147341532392554092Rat
2313100Bss82Bone structure and strength QTL 8230.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)143766971982669719Rat

1 to 10 of 23 rows
RH127468  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21479,830,405 - 79,830,599 (+)MAPPERmRatBN7.2
Rnor_6.01485,181,616 - 85,181,809NCBIRnor6.0
Rnor_5.01485,859,237 - 85,859,430UniSTSRnor5.0
RGSC_v3.41485,594,833 - 85,595,026UniSTSRGSC3.4
Celera1478,720,871 - 78,721,064UniSTS
RH 3.4 Map14554.1UniSTS
Cytogenetic Map14q21UniSTS
RH94567  
Rat AssemblyChrPosition (strand)SourceJBrowse
GRCr81484,044,436 - 84,044,613 (+)Marker Load Pipeline
mRatBN7.21479,830,370 - 79,830,547 (+)MAPPERmRatBN7.2
Rnor_6.01485,181,581 - 85,181,757NCBIRnor6.0
Rnor_5.01485,859,202 - 85,859,378UniSTSRnor5.0
RGSC_v3.41485,594,798 - 85,594,974UniSTSRGSC3.4
Celera1478,720,836 - 78,721,012UniSTS
Cytogenetic Map14q21UniSTS




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 10 47 113 71 70 39 25 39 6 190 89 93 45 60 31



Ensembl Acc Id: ENSRNOT00000011604   ⟹   ENSRNOP00000011604
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1479,830,362 - 79,840,347 (-)Ensembl
Rnor_6.0 Ensembl1485,181,572 - 85,191,557 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000110325   ⟹   ENSRNOP00000096290
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1479,830,375 - 79,840,351 (-)Ensembl
RefSeq Acc Id: NM_012607   ⟹   NP_036739
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81484,044,428 - 84,054,413 (-)NCBI
mRatBN7.21479,830,362 - 79,840,347 (-)NCBI
Rnor_6.01485,181,572 - 85,191,557 (-)NCBI
Rnor_5.01485,859,193 - 85,869,187 (-)NCBI
RGSC_v3.41485,594,789 - 85,604,774 (-)RGD
Celera1478,720,827 - 78,730,812 (-)RGD
Sequence:
1 to 10 of 10 rows
Protein RefSeqs NP_036739 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA41692 (Get FASTA)   NCBI Sequence Viewer  
  AAA41693 (Get FASTA)   NCBI Sequence Viewer  
  AAA41695 (Get FASTA)   NCBI Sequence Viewer  
  AAB87068 (Get FASTA)   NCBI Sequence Viewer  
  AAM49796 (Get FASTA)   NCBI Sequence Viewer  
  CAA32038 (Get FASTA)   NCBI Sequence Viewer  
  EDM00257 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000011604
GenBank Protein P16884 (Get FASTA)   NCBI Sequence Viewer  
1 to 10 of 10 rows
RefSeq Acc Id: NP_036739   ⟸   NM_012607
- UniProtKB: F1LRZ7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000011604   ⟸   ENSRNOT00000011604
Ensembl Acc Id: ENSRNOP00000096290   ⟸   ENSRNOT00000110325
IF rod

Name Modeler Protein Id AA Range Protein Structure
AF-P16884-F1-model_v2 AlphaFold P16884 1-1072 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

RGD ID:13699451
Promoter ID:EPDNEW_R9975
Type:single initiation site
Name:Nefh_1
Description:neurofilament heavy
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01485,191,571 - 85,191,631EPDNEW


1 to 28 of 28 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-15157 BioCyc
Ensembl Genes ENSRNOG00000008716 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000011604 ENTREZGENE
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  Single helix bin UniProtKB/Swiss-Prot
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot
InterPro DUF1388 UniProtKB/Swiss-Prot
  IF_conserved UniProtKB/Swiss-Prot
  IF_rod_dom UniProtKB/Swiss-Prot
NCBI Gene 24587 ENTREZGENE
PANTHER NEUROFILAMENT HEAVY POLYPEPTIDE UniProtKB/Swiss-Prot
  PTHR23214 UniProtKB/Swiss-Prot
Pfam DUF1388 UniProtKB/Swiss-Prot
  Filament UniProtKB/Swiss-Prot
PhenoGen Nefh PhenoGen
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot
  IF_ROD_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000008716 RatGTEx
SMART Filament UniProtKB/Swiss-Prot
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot
TIGR TC204032
UniProt A0A8I6APA7_RAT UniProtKB/TrEMBL
  A6IKJ3_RAT UniProtKB/TrEMBL
  F1LRZ7 ENTREZGENE, UniProtKB/TrEMBL
  NFH_RAT UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O35482 UniProtKB/Swiss-Prot
  Q540Z7 UniProtKB/Swiss-Prot
  Q63368 UniProtKB/Swiss-Prot
1 to 28 of 28 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-04-12 Nefh  neurofilament heavy chain  Nefh  neurofilament heavy  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2017-01-17 Nefh  neurofilament heavy  Nefh  neurofilament, heavy polypeptide  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2002-06-10 Nefh  Neurofilament, heavy polypeptide      Symbol and Name status set to approved 70586 APPROVED

Note Type Note Reference
gene_domains contains 51 Lys-Ser-Pro repeat triplets, which are possible sites of phosphorylation 728968