NEFH (neurofilament heavy chain) - Rat Genome Database

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Gene: NEFH (neurofilament heavy chain) Homo sapiens
Analyze
Symbol: NEFH
Name: neurofilament heavy chain
RGD ID: 736723
HGNC Page HGNC:7737
Description: Enables protein kinase binding activity. A structural constituent of cytoskeleton. Involved in axon development; neurofilament bundle assembly; and regulation of organelle transport along microtubule. Located in cytoplasm; cytoskeleton; and neurofibrillary tangle. Implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Biomarker of autoimmune disease of the nervous system (multiple); brain disease (multiple); and optic neuritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 200 kDa neurofilament protein; CMT2CC; neurofilament heavy; neurofilament heavy polypeptide; neurofilament triplet H protein; neurofilament, heavy polypeptide; neurofilament, heavy polypeptide 200kDa; NF-H; NFH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NEFHP1   NEFHP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


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NEFHHumanamyotrophic lateral sclerosis treatmentISONefh (Mus musculus)13525000 RGD 
NEFHHumanamyotrophic lateral sclerosis  IAGP 1302518DNA:deletions:cds:multiple (human)RGD 
NEFHHumanAnti-N-Methyl-D-Aspartate Receptor Encephalitis treatmentIEP 27226816 RGD 
NEFHHumanautoimmune optic neuritis severityIEP 27226805 RGD 
NEFHHumanBilateral Hearing Loss disease_progressionISONefh (Rattus norvegicus)27372873 RGD 
NEFHHumanChronic Relapsing Experimental Autoimmune Encephalomyelitis  ISONefh (Mus musculus)27226817protein:decreased expression:spinal cord:RGD 
NEFHHumancongenital hypothyroidism  ISONefh (Rattus norvegicus)9693732protein:decreased expression and increased phosphorylationRGD 
NEFHHumanCreutzfeldt-Jakob disease  IEP 127284887protein:increased expression:CSF (human)RGD 
NEFHHumanepilepsy with generalized tonic-clonic seizures  IEP 7257648protein:increased expression:cerebral spinal fluidRGD 
NEFHHumanExperimental Diabetes Mellitus treatmentISONefh (Rattus norvegicus)9698428 RGD 
NEFHHumanglaucoma  ISONefh (Rattus norvegicus)27226819protein:decreased expression:optic nerve:RGD 
NEFHHumanHyperalgesia treatmentISONefh (Rattus norvegicus)27226885 RGD 
NEFHHumanhypothyroidism treatmentISONefh (Rattus norvegicus)9743942 RGD 
NEFHHumanmiddle cerebral artery infarction  ISONefh (Mus musculus)27226878 RGD 
NEFHHumanmonoclonal gammopathy of uncertain significance  IDA 9693726associated with Peripheral Nervous System DiseasesRGD 
NEFHHumanmultiple sclerosis severityIEP 27226808 RGD 
NEFHHumanNerve Injuries treatmentISONefh (Rattus norvegicus)27226886 RGD 
NEFHHumanneuromyelitis optica  IEP 27226805protein:increased expression:serum:RGD 
NEFHHumanoptic neuritis  IEP 27226813protein:increased expression:serum:RGD 
NEFHHumanoptic neuritis severityIEP 27226814 RGD 
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Original Reference(s)
NEFHHumanamyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Charcot diseaseClinVarPMID:28492532 and PMID:36549973
NEFHHumanamyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:25741868 and PMID:28492532
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar more ...ClinVarPMID:25741868
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NEFH-related conditionClinVar 
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NEFH-related conditionClinVarPMID:28492532 and PMID:36549973
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NEFH-related conditionClinVarPMID:25741868 more ...
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NEFH-related conditionClinVarPMID:25741868 more ...
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1ClinVarPMID:25741868 more ...
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NEFH-related conditionClinVarPMID:25741868 more ...
NEFHHumanamyotrophic lateral sclerosis type 1  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
NEFHHumanBreast Cancer, Familial  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Familial cancer of breastClinVarPMID:21876083 more ...
NEFHHumanBreast Cancer, Familial  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Familial cancer of breastClinVarPMID:16551709 more ...
NEFHHumanCharcot-Marie-Tooth disease axonal type 2C  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CClinVarPMID:25741868
NEFHHumanCharcot-Marie-Tooth disease axonal type 2CC  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868
NEFHHumanCharcot-Marie-Tooth disease axonal type 2CC  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NEFH-related conditionClinVar 
NEFHHumanCharcot-Marie-Tooth disease axonal type 2CC  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
NEFHHumanCharcot-Marie-Tooth disease axonal type 2CC  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NEFH-related conditionClinVarPMID:28492532 and PMID:36549973
NEFHHumanCharcot-Marie-Tooth disease axonal type 2CC  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
NEFHHumanCharcot-Marie-Tooth disease axonal type 2CC  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NEFH-related conditionClinVarPMID:25741868 more ...
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NEFHHumanamyotrophic lateral sclerosis type 1  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
NEFHHumanperipheral nervous system disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:10447555
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NEFHHumanamyotrophic lateral sclerosis type 1 susceptibilityIAGP 7240710 OMIM 
NEFHHumanCharcot-Marie-Tooth disease axonal type 2CC susceptibilityIAGP 7240710 OMIM 

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NEFHHuman(-)-anisomycin decreases degradationISONefh (Rattus norvegicus)6480464Anisomycin results in decreased degradation of NEFH mRNACTDPMID:1280263
NEFHHuman(R)-adrenaline affects expressionISONefh (Rattus norvegicus)6480464Epinephrine affects the expression of NEFH mRNACTDPMID:22954530
NEFHHuman(R,R,R)-alpha-tocopherol increases expressionISONefh (Rattus norvegicus)6480464alpha-Tocopherol results in increased expression of NEFH protein modified formCTDPMID:18942769
NEFHHuman1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene multiple interactionsISONefh (Mus musculus)6480464[2 more ...CTDPMID:25510870
NEFHHuman1,2-dichlorobenzene affects expressionISONefh (Rattus norvegicus)64804642-dichlorobenzene affects the expression of NEFH mRNACTDPMID:22954530
NEFHHuman1-chloro-2,4-dinitrobenzene affects bindingEXP 6480464Dinitrochlorobenzene binds to NEFH proteinCTDPMID:32991956
NEFHHuman17alpha-ethynylestradiol affects expressionISONefh (Rattus norvegicus)6480464Ethinyl Estradiol affects the expression of NEFH mRNACTDPMID:22954530
NEFHHuman17beta-estradiol affects expressionEXP 6480464Estradiol affects the expression of NEFH mRNACTDPMID:14699072
NEFHHuman17beta-estradiol multiple interactionsEXP 6480464[Estradiol binds to ESR2 protein] which results in increased expression of NEFH mRNACTDPMID:20404318
NEFHHuman2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISONefh (Mus musculus)6480464[2 more ...CTDPMID:25510870
NEFHHuman2,2',4,4'-Tetrabromodiphenyl ether decreases expressionISONefh (Rattus norvegicus)64804642 more ...CTDPMID:33078273
NEFHHuman2,2',5,5'-tetrachlorobiphenyl multiple interactionsISONefh (Mus musculus)6480464[2 more ...CTDPMID:25510870
NEFHHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISONefh (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of NEFH mRNACTDPMID:32109520
NEFHHuman2,4,4'-trichlorobiphenyl multiple interactionsISONefh (Mus musculus)6480464[2 more ...CTDPMID:25510870
NEFHHuman2,5-hexanedione decreases expressionISONefh (Rattus norvegicus)64804642 and 5-hexanedione results in decreased expression of NEFH proteinCTDPMID:19033394
NEFHHuman3,3',4,4',5-pentachlorobiphenyl decreases expressionEXP 64804643 more ...CTDPMID:23146750
NEFHHuman3,3',5,5'-tetrabromobisphenol A affects expressionISONefh (Rattus norvegicus)6480464tetrabromobisphenol A affects the expression of NEFH mRNACTDPMID:22954530
NEFHHuman3,4-methylenedioxymethamphetamine decreases expressionISONefh (Rattus norvegicus)6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of NEFH proteinCTDPMID:26068050
NEFHHuman3-methyladenine multiple interactionsEXP 64804643-methyladenine inhibits the reaction [tri-o-cresyl phosphate results in decreased expression of NEFH protein]CTDPMID:23743148
NEFHHuman5-aza-2'-deoxycytidine multiple interactionsEXP 6480464Decitabine inhibits the reaction [Smoke results in decreased expression of NEFH mRNA]CTDPMID:21095227

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Biological Process
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NEFHHumanaxon development involved_inIMP 150520179 PMID:7536898BHF-UCLPMID:7536898
NEFHHumanaxon development involved_inIBAMGI:97309 more ...150520179 GO_CentralGO_REF:0000033
NEFHHumanaxon development involved_inIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
NEFHHumanaxon regeneration  ISONefh (Rattus norvegicus)9068941 RGDPMID:10646539 and REF_RGD_ID:9698439
NEFHHumanaxonogenesis involved_inTAS 150520179 PMID:17498690BHF-UCLPMID:17498690
NEFHHumancell projection assembly involved_inTAS 150520179 PMID:17498690BHF-UCLPMID:17498690
NEFHHumancellular response to estradiol stimulus  ISONefh (Rattus norvegicus)9068941 RGDPMID:17401155 and REF_RGD_ID:9698429
NEFHHumancellular response to hydroperoxide  ISONefh (Rattus norvegicus)9068941 RGDPMID:30041238 and REF_RGD_ID:27372875
NEFHHumancellular response to leukemia inhibitory factor acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
NEFHHumancellular response to oxidative stress  ISONefh (Rattus norvegicus)9068941 RGDPMID:17401155 and REF_RGD_ID:9698429
NEFHHumancerebral cortex development  ISONefh (Rattus norvegicus)9068941 RGDPMID:10439464 and REF_RGD_ID:9743942
NEFHHumanhippocampus development  ISONefh (Rattus norvegicus)9068941 RGDPMID:14620872 and REF_RGD_ID:9743946
NEFHHumanintermediate filament bundle assembly involved_inIBAMGI:97309 more ...150520179 GO_CentralGO_REF:0000033
NEFHHumanintermediate filament bundle assembly acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
NEFHHumanintermediate filament cytoskeleton organization acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
NEFHHumanmicrotubule cytoskeleton organization acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
NEFHHumanneurofilament bundle assembly involved_inIMP 150520179 PMID:7536898BHF-UCLPMID:7536898
NEFHHumanneurofilament cytoskeleton organization acts_upstream_of_or_withinIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
NEFHHumanneuron projection development  ISONefh (Rattus norvegicus)9068941 RGDPMID:1898595 and REF_RGD_ID:9698427
NEFHHumanovarian follicle atresia  ISONefh (Rattus norvegicus)9068941 RGDPMID:22315443 and REF_RGD_ID:9698432
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Cellular Component
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NEFHHumanapical dendrite  ISONefh (Rattus norvegicus)9068941MMO:0000538RGDPMID:27457532 and REF_RGD_ID:27372873
NEFHHumanaxon  ISONefh (Rattus norvegicus)9068941 RGDPMID:7507064 and REF_RGD_ID:9693700
NEFHHumanaxon is_active_inIBAMGI:97309 more ...150520179 GO_CentralGO_REF:0000033
NEFHHumanaxon located_inIEAUniProtKB-SubCell:SL-0279150520179 UniProtGO_REF:0000044
NEFHHumanaxon located_inIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
NEFHHumanaxon located_inTAS 150520179 PMID:14662745UniProtPMID:14662745
NEFHHumanbasal proximal dendrite  ISONefh (Rattus norvegicus)9068941MMO:0000538RGDPMID:27457532 and REF_RGD_ID:27372873
NEFHHumancell projection located_inIEAUniProtKB-KW:KW-0966150520179 UniProtGO_REF:0000043
NEFHHumancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
NEFHHumancytoplasm located_inISSUniProtKB:P16884150520179 BHF-UCLGO_REF:0000024
NEFHHumancytoplasm located_inIDA 150520179 PMID:27040688UniProtPMID:27040688
NEFHHumancytoskeleton located_inIEAUniProtKB-SubCell:SL-0090150520179 UniProtGO_REF:0000044
NEFHHumancytoskeleton located_inIEAUniProtKB-KW:KW-0206150520179 UniProtGO_REF:0000043
NEFHHumancytoskeleton located_inIDA 150520179 PMID:24327345ARUK-UCLPMID:24327345
NEFHHumanintermediate filament  ISONefh (Rattus norvegicus)9068941 RGDPMID:2230956 and REF_RGD_ID:729261
NEFHHumanintermediate filament located_inIEAUniProtKB-KW:KW-0403150520179 UniProtGO_REF:0000043
NEFHHumanneurofibrillary tangle located_inIDA 150520179 PMID:21828286BHF-UCLPMID:21828286
NEFHHumanneurofilament located_inNAS 150520179 PMID:3138108 and PMID:9313898UniProtPMID:3138108 and PMID:9313898
NEFHHumanneurofilament is_active_inIBAMGI:97309 and PANTHER:PTN002755233150520179 GO_CentralGO_REF:0000033
NEFHHumanneurofilament located_inIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
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Molecular Function
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NEFHHumandynein complex binding enablesTAS 150520179 PMID:17498690BHF-UCLPMID:17498690
NEFHHumankinesin binding enablesTAS 150520179 PMID:17498690BHF-UCLPMID:17498690
NEFHHumanmicrotubule binding enablesTAS 150520179 PMID:17498690BHF-UCLPMID:17498690
NEFHHumanprotein binding enablesIPIUniProtKB:P05067 and UniProtKB:P10809150520179 PMID:32814053IntActPMID:32814053
NEFHHumanprotein kinase binding enablesIPIUniProtKB:Q03114150520179 PMID:9313898BHF-UCLPMID:9313898
NEFHHumanprotein kinase binding enablesIPIUniProtKB:Q13627-2150520179 PMID:24327345ARUK-UCLPMID:24327345
NEFHHumanprotein-containing complex binding  ISONefh (Rattus norvegicus)9068941heterodimerizationRGDPMID:9388258 and REF_RGD_ID:9743943
NEFHHumanprotein-macromolecule adaptor activity enablesISSUniProtKB:P16884150520179 BHF-UCLGO_REF:0000024
NEFHHumanstructural constituent of cytoskeleton enablesISSUniProtKB:P16884150520179 BHF-UCLGO_REF:0000024
NEFHHumanstructural constituent of cytoskeleton enablesIMP 150520179 PMID:7536898BHF-UCLPMID:7536898
NEFHHumanstructural constituent of postsynaptic intermediate filament cytoskeleton enablesIEAUniProtKB:P19246 and ensembl:ENSMUSP00000091061150520179 EnsemblGO_REF:0000107
NEFHHumanstructural constituent of postsynaptic intermediate filament cytoskeleton enablesIBAMGI:97309 and PANTHER:PTN002755233150520179 GO_CentralGO_REF:0000033
NEFHHumantoxic substance binding  ISONefh (Rattus norvegicus)90689412 and 5-hexanedioneRGDPMID:9221839 and REF_RGD_ID:9743940
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Imported Annotations - KEGG (archival)

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NEFHHumanamyotrophic lateral sclerosis pathway  IEA 6907045 KEGGhsa:05014
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NEFHHumanAbnormality on pulmonary function testing  IAGP 8699517 HPOORPHA:803
NEFHHumanAdult onset  IAGP 8699517 HPOMIM:105400
NEFHHumanAmyotrophic lateral sclerosis  IAGP 8699517 HPOMIM:105400 and PMID:8446170
NEFHHumanAmyotrophic lateral sclerosis  IAGP 8699517 HPOORPHA:803
NEFHHumanAnxiety  IAGP 8699517 HPOORPHA:803
NEFHHumanAtypical behavior  IAGP 8699517 HPOORPHA:803
NEFHHumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:105400 and PMID:8446170
NEFHHumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:616924 and PMID:27040688
NEFHHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:105400
NEFHHumanBabinski sign  IAGP 8699517 HPOORPHA:803
NEFHHumanBabinski sign  IAGP 8699517 HPOMIM:616924 and PMID:27040688
NEFHHumanCachexia  IAGP 8699517 HPOORPHA:803
NEFHHumanCognitive impairment  IAGP 8699517 HPOORPHA:803
NEFHHumanDegeneration of anterior horn cells  IAGP 8699517 HPOMIM:105400
NEFHHumanDegeneration of the lateral corticospinal tracts  IAGP 8699517 HPOMIM:105400
NEFHHumanDepression  IAGP 8699517 HPOORPHA:803
NEFHHumanDistal amyotrophy  IAGP 8699517 HPOORPHA:803
NEFHHumanDistal sensory impairment  IAGP 8699517 HPOMIM:616924
NEFHHumanDrooling  IAGP 8699517 HPOORPHA:803
NEFHHumanDysarthria  IAGP 8699517 HPOORPHA:803
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NEFHHumanAmyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:28492532 and PMID:36549973
NEFHHumanAmyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:25741868 and PMID:28492532
NEFHHumanPeripheral neuropathy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVarPMID:28492532
NEFHHumanPeripheral neuropathy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVarPMID:28492532

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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. 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.
3. Effects of brain ischemia on intermediate filaments of rat hippocampus. Camargo-De-Morais M, etal., Neurochem Res. 1996 May;21(5):595-602.
4. 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.
5. 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.
6. Regulation of neurofilament gene expression by thyroid hormone in the developing rat brain. Ghosh S, etal., Neuroreport. 1999 Aug 2;10(11):2361-5.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. mRNA levels of all three neurofilament proteins decline following nerve transection. Goldstein ME, etal., Brain Res. 1988 Jun;427(3):287-91.
9. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
10. Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis. Kong J and Xu Z, Neurosci Lett. 2000 Mar 3;281(1):72-4.
11. Cerebrospinal fluid light and heavy neurofilament level increased in anti-N-methyl-d-aspartate receptor encephalitis. Li J, etal., Brain Behav. 2019 Aug;9(8):e01354. doi: 10.1002/brb3.1354. Epub 2019 Jul 17.
12. Vascular Endothelial Growth Factor-Transfected Bone Marrow Mesenchymal Stem Cells Improve the Recovery of Motor and Sensory Functions of Rats With Spinal Cord Injury. Liu X, etal., Spine (Phila Pa 1976). 2020 Apr 1;45(7):E364-E372. doi: 10.1097/BRS.0000000000003333.
13. Longitudinal Assessment of Transorbital Sonography, Visual Acuity, and Biomarkers for Inflammation and Axonal Injury in Optic Neuritis. Lochner P, etal., Dis Markers. 2017;2017:5434310. doi: 10.1155/2017/5434310. Epub 2017 Sep 11.
14. Impaired Neurofilament Integrity and Neuronal Morphology in Different Models of Focal Cerebral Ischemia and Human Stroke Tissue. Mages B, etal., Front Cell Neurosci. 2018 Jun 18;12:161. doi: 10.3389/fncel.2018.00161. eCollection 2018.
15. Allopregnanolone prevents and suppresses oxaliplatin-evoked painful neuropathy: multi-parametric assessment and direct evidence. Meyer L, etal., Pain. 2011 Jan;152(1):170-81. doi: 10.1016/j.pain.2010.10.015. Epub 2010 Nov 10.
16. Overexpression of MAP2 and NF-H Associated with Dendritic Pathology in the Spinal Cord of Mice Infected with Rabies Virus. Monroy-Gómez J, etal., Viruses. 2018 Mar 6;10(3). pii: v10030112. doi: 10.3390/v10030112.
17. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
18. Neurofilament heavy chain expression and neuroplasticity in rat auditory cortex after unilateral and bilateral deafness. Park MH, etal., Hear Res. 2016 Sep;339:155-60. doi: 10.1016/j.heares.2016.07.010. Epub 2016 Jul 22.
19. The diagnostic and prognostic value of neurofilament heavy chain levels in immune-mediated optic neuropathies. Petzold A and Plant GT, Mult Scler Int. 2012;2012:217802. doi: 10.1155/2012/217802. Epub 2012 Dec 17.
20. Quantification of neurodegeneration by measurement of brain-specific proteins. Petzold A, etal., J Neuroimmunol. 2003 May;138(1-2):45-8. doi: 10.1016/s0165-5728(03)00092-4.
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PMID:1688443   PMID:2557834   PMID:3138108   PMID:7536898   PMID:7849698   PMID:8102569   PMID:8224877   PMID:8379998   PMID:8621664   PMID:8889548   PMID:9313898   PMID:9388258  
PMID:9592082   PMID:9875737   PMID:10048485   PMID:11238716   PMID:12130654   PMID:12477932   PMID:12674703   PMID:12963086   PMID:14662745   PMID:14722583   PMID:15489334   PMID:16084104  
PMID:17290105   PMID:17498690   PMID:17626162   PMID:18319731   PMID:18635547   PMID:19054571   PMID:19104679   PMID:19678766   PMID:20140245   PMID:20213320   PMID:20301623   PMID:20624930  
PMID:21349546   PMID:21792676   PMID:21828286   PMID:21858182   PMID:21873635   PMID:21976236   PMID:22810585   PMID:23079625   PMID:23117489   PMID:23134506   PMID:23632043   PMID:24189400  
PMID:24260563   PMID:24327345   PMID:24464810   PMID:25192482   PMID:25261856   PMID:25341992   PMID:25633679   PMID:25798074   PMID:26186194   PMID:26460568   PMID:27040688   PMID:27207456  
PMID:27236410   PMID:27295058   PMID:27415180   PMID:27423602   PMID:27462432   PMID:27538346   PMID:27732645   PMID:28500227   PMID:28514442   PMID:28524877   PMID:28628244   PMID:28709447  
PMID:28977470   PMID:29054919   PMID:29945509   PMID:30021884   PMID:30029677   PMID:30070096   PMID:31029495   PMID:31199010   PMID:31574089   PMID:31839598   PMID:31980649   PMID:32780247  
PMID:32814053   PMID:33020509   PMID:33609080   PMID:33895854   PMID:33961781   PMID:34518334   PMID:35091664   PMID:36042248   PMID:36200879   PMID:39358380  



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
(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
(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

.

.
Variants in NEFH
881 total Variants

1 to 10 of 1061 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_021076.4(NEFH):c.2015CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG[1] (p.672AEAKSPEKAKSPVK[1]) microsatellite Amyotrophic lateral sclerosis, susceptibility to [RCV000015080]|not provided [RCV000057189] Chr22:29489621..29489662 [GRCh38]
Chr22:29885610..29885651 [GRCh37]
Chr22:22q12.2		 risk factor|not provided
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 copy number gain See cases [RCV000050553] Chr22:26979579..33992220 [GRCh38]
Chr22:27375542..34388209 [GRCh37]
Chr22:25705542..32718209 [NCBI36]
Chr22:22q12.1-12.3		 pathogenic
GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3 copy number gain See cases [RCV000051199] Chr22:29281920..29878399 [GRCh38]
Chr22:29677909..30274388 [GRCh37]
Chr22:28007909..28604388 [NCBI36]
Chr22:22q12.2		 uncertain significance
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1 copy number loss See cases [RCV000052871] Chr22:28441035..30276511 [GRCh38]
Chr22:28837023..30672500 [GRCh37]
Chr22:27167023..29002500 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1 copy number loss See cases [RCV000052872] Chr22:28856144..29506277 [GRCh38]
Chr22:29252132..29902266 [GRCh37]
Chr22:27582132..28232266 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
NM_021076.4(NEFH):c.1138G>A (p.Ala380Thr) single nucleotide variant Inborn genetic diseases [RCV002321553]|NEFH-related disorder [RCV003935001]|not provided [RCV000057178] Chr22:29485777 [GRCh38]
Chr22:29881766 [GRCh37]
Chr22:22q12.2		 benign|likely benign|not provided
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1 copy number loss See cases [RCV000052870] Chr22:28278805..31742328 [GRCh38]
Chr22:28674793..32138314 [GRCh37]
Chr22:27004793..30468314 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
NM_021076.3(NEFH):c.1666G>A (p.Glu556Lys) single nucleotide variant Malignant melanoma [RCV000072935] Chr22:29489306 [GRCh38]
Chr22:29885295 [GRCh37]
Chr22:28215295 [NCBI36]
Chr22:22q12.2		 not provided
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser) single nucleotide variant Inborn genetic diseases [RCV002408558]|NEFH-related disorder [RCV003915022]|not provided [RCV000057177] Chr22:29483545 [GRCh38]
Chr22:29879534 [GRCh37]
Chr22:22q12.2		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
1 to 10 of 1061 rows

Predicted Target Of
Summary Value
Count of predictions:452
Count of miRNA genes:330
Interacting mature miRNAs:372
Transcripts:ENST00000310624
Prediction methods:Microtar, 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.


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
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
597320824GWAS1416898_Heducational attainment QTL GWAS1416898 (human)2e-23educational attainment222948478429484785Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
597117169GWAS1213243_Hself reported educational attainment QTL GWAS1213243 (human)5e-12self reported educational attainment222948478429484785Human
597109738GWAS1205812_Hself reported educational attainment QTL GWAS1205812 (human)1e-12self reported educational attainment222948478429484785Human

WI-1055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372229,886,267 - 29,886,690UniSTSGRCh37
Build 362228,216,267 - 28,216,690RGDNCBI36
Celera2213,686,106 - 13,686,529RGD
Cytogenetic Map22q12.2UniSTS
HuRef2212,850,093 - 12,850,516UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2370 2788 2230 4926 1702 2274 4 606 1856 444 2242 7107 6366 38 3710 817 1712 1561 170 1


1 to 22 of 22 rows
RefSeq Transcripts NG_008404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA908662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC000035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF203032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE223015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE782873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG470629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM686053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S46953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 22 of 22 rows

Ensembl Acc Id: ENST00000310624   ⟹   ENSP00000311997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2229,480,218 - 29,491,390 (+)Ensembl
RefSeq Acc Id: NM_021076   ⟹   NP_066554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382229,480,218 - 29,491,390 (+)NCBI
GRCh372229,876,181 - 29,887,279 (+)ENTREZGENE
GRCh372229,876,181 - 29,887,279 (+)NCBI
Build 362228,206,219 - 28,217,279 (+)NCBI Archive
HuRef2212,839,995 - 12,851,105 (+)ENTREZGENE
CHM1_12229,835,584 - 29,846,662 (+)NCBI
T2T-CHM13v2.02229,943,567 - 29,954,761 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530200   ⟹   XP_011528502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382229,480,218 - 29,491,290 (+)NCBI
Sequence:
RefSeq Acc Id: NP_066554   ⟸   NM_021076
- UniProtKB: Q9UQ14 (UniProtKB/Swiss-Prot),   Q9UJS7 (UniProtKB/Swiss-Prot),   Q96HF8 (UniProtKB/Swiss-Prot),   B4DYY4 (UniProtKB/Swiss-Prot),   P12036 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528502   ⟸   XM_011530200
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000311997   ⟸   ENST00000310624
IF rod

Name Modeler Protein Id AA Range Protein Structure
AF-P12036-F1-model_v2 AlphaFold P12036 1-1026 view protein structure

RGD ID:6800174
Promoter ID:HG_KWN:42243
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000321553
Position:
Human AssemblyChrPosition (strand)Source
Build 362228,206,191 - 28,207,122 (+)MPROMDB
RGD ID:13603636
Promoter ID:EPDNEW_H28002
Type:multiple 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.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382229,480,218 - 29,480,278EPDNEW


1 to 35 of 35 rows
Database
Acc Id
Source(s)
COSMIC NEFH COSMIC
Ensembl Genes ENSG00000100285 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000310624 ENTREZGENE
  ENST00000310624.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  Single helix bin UniProtKB/Swiss-Prot
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot
GTEx ENSG00000100285 GTEx
HGNC ID HGNC:7737 ENTREZGENE
Human Proteome Map NEFH Human Proteome Map
InterPro DUF1388 UniProtKB/Swiss-Prot
  IF_conserved UniProtKB/Swiss-Prot
  IF_rod_dom UniProtKB/Swiss-Prot
KEGG Report hsa:4744 UniProtKB/Swiss-Prot
NCBI Gene 4744 ENTREZGENE
OMIM 162230 OMIM
PANTHER NEUROFILAMENT HEAVY POLYPEPTIDE UniProtKB/Swiss-Prot
  PTHR23214 UniProtKB/Swiss-Prot
Pfam DUF1388 UniProtKB/Swiss-Prot
  Filament UniProtKB/Swiss-Prot
PharmGKB PA31540 PharmGKB
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot
  IF_ROD_2 UniProtKB/Swiss-Prot
SMART Filament UniProtKB/Swiss-Prot
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot
UniProt B4DYY4 ENTREZGENE
  NFH_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16070_HUMAN UniProtKB/TrEMBL
  Q96HF8 ENTREZGENE
  Q9UJS7 ENTREZGENE
  Q9UQ14 ENTREZGENE
UniProt Secondary B4DYY4 UniProtKB/Swiss-Prot
  Q96HF8 UniProtKB/Swiss-Prot
  Q9UJS7 UniProtKB/Swiss-Prot
  Q9UQ14 UniProtKB/Swiss-Prot
1 to 35 of 35 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-29 NEFH  neurofilament heavy chain  NEFH  neurofilament heavy  Symbol and/or name change 19259463 PROVISIONAL
2016-12-13 NEFH  neurofilament heavy  NEFH  neurofilament heavy polypeptide  Symbol and/or name change 5135510 APPROVED
2016-07-12 NEFH  neurofilament heavy polypeptide  NEFH  neurofilament, heavy polypeptide  Symbol and/or name change 5135510 APPROVED