Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NEFH (neurofilament heavy)

Identity

Alias (NCBI)CMT2CC
NFH
HGNC (Hugo) NEFH
HGNC Previous nameneurofilament, heavy polypeptide 200kDa
 neurofilament heavy polypeptide
LocusID (NCBI) 4744
Atlas_Id 51698
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29480218 and ends at 29491390 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MSMB (10q11.23) / NEFH (22q12.2)NEFH (22q12.2) / NEFH (22q12.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)NEFH   7737
Cards
Entrez_Gene (NCBI)NEFH    neurofilament heavy
AliasesCMT2CC; NFH
GeneCards (Weizmann)NEFH
Ensembl hg19 (Hinxton)ENSG00000100285 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100285 [Gene_View]  ENSG00000100285 [Sequence]  chr22:29480218-29491390 [Contig_View]  NEFH [Vega]
ICGC DataPortalENSG00000100285
TCGA cBioPortalNEFH
AceView (NCBI)NEFH
Genatlas (Paris)NEFH
SOURCE (Princeton)NEFH
Genetics Home Reference (NIH)NEFH
Genomic and cartography
GoldenPath hg38 (UCSC)NEFH  -     chr22:29480218-29491390 +  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NEFH  -     22q12.2   [Description]    (hg19-Feb_2009)
GoldenPathNEFH - 22q12.2 [CytoView hg19]  NEFH - 22q12.2 [CytoView hg38]
ImmunoBaseENSG00000100285
genome Data Viewer NCBINEFH [Mapview hg19]  
OMIM105400   162230   616924   
Gene and transcription
Genbank (Entrez)AA908662 AB020652 AF203032 AK302660 BC008648
RefSeq transcript (Entrez)NM_021076
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NEFH
Alternative Splicing GalleryENSG00000100285
Gene ExpressionNEFH [ NCBI-GEO ]   NEFH [ EBI - ARRAY_EXPRESS ]   NEFH [ SEEK ]   NEFH [ MEM ]
Gene Expression Viewer (FireBrowse)NEFH [ Firebrowse - Broad ]
GenevisibleExpression of NEFH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4744
GTEX Portal (Tissue expression)NEFH
Human Protein AtlasENSG00000100285-NEFH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12036   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12036  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12036
Splice isoforms : SwissVarP12036
PhosPhoSitePlusP12036
Domaine pattern : Prosite (Expaxy)IF_ROD_1 (PS00226)    IF_ROD_2 (PS51842)   
Domains : Interpro (EBI)DUF1388    IF_conserved    IF_rod_dom    IF_rod_dom_coil1B    NF-H   
Domain families : Pfam (Sanger)DUF1388 (PF07142)    Filament (PF00038)   
Domain families : Pfam (NCBI)pfam07142    pfam00038   
Domain families : Smart (EMBL)Filament (SM01391)  
Conserved Domain (NCBI)NEFH
Blocks (Seattle)NEFH
SuperfamilyP12036
Human Protein Atlas [tissue]ENSG00000100285-NEFH [tissue]
Peptide AtlasP12036
HPRD01204
IPIIPI00910602   IPI00386758   IPI01025089   
Protein Interaction databases
DIP (DOE-UCLA)P12036
IntAct (EBI)P12036
BioGRIDNEFH
STRING (EMBL)NEFH
ZODIACNEFH
Ontologies - Pathways
QuickGOP12036
Ontology : AmiGOmicrotubule cytoskeleton organization  structural constituent of cytoskeleton  structural constituent of cytoskeleton  cytoplasm  cytoplasm  cytoskeleton  neurofilament  axonogenesis  microtubule binding  postsynaptic density  kinesin binding  protein kinase binding  cell projection assembly  axon  protein binding, bridging  neurofilament bundle assembly  peripheral nervous system neuron axonogenesis  neurofilament cytoskeleton organization  axon development  dynein complex binding  neurofibrillary tangle  Schaffer collateral - CA1 synapse  postsynaptic intermediate filament cytoskeleton  structural constituent of postsynaptic intermediate filament cytoskeleton  postsynaptic intermediate filament cytoskeleton organization  regulation of organelle transport along microtubule  cellular response to leukemia inhibitory factor  
Ontology : EGO-EBImicrotubule cytoskeleton organization  structural constituent of cytoskeleton  structural constituent of cytoskeleton  cytoplasm  cytoplasm  cytoskeleton  neurofilament  axonogenesis  microtubule binding  postsynaptic density  kinesin binding  protein kinase binding  cell projection assembly  axon  protein binding, bridging  neurofilament bundle assembly  peripheral nervous system neuron axonogenesis  neurofilament cytoskeleton organization  axon development  dynein complex binding  neurofibrillary tangle  Schaffer collateral - CA1 synapse  postsynaptic intermediate filament cytoskeleton  structural constituent of postsynaptic intermediate filament cytoskeleton  postsynaptic intermediate filament cytoskeleton organization  regulation of organelle transport along microtubule  cellular response to leukemia inhibitory factor  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
NDEx NetworkNEFH
Atlas of Cancer Signalling NetworkNEFH
Wikipedia pathwaysNEFH
Orthology - Evolution
OrthoDB4744
GeneTree (enSembl)ENSG00000100285
Phylogenetic Trees/Animal Genes : TreeFamNEFH
HOGENOMP12036
Homologs : HomoloGeneNEFH
Homology/Alignments : Family Browser (UCSC)NEFH
Gene fusions - Rearrangements
Fusion : QuiverNEFH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNEFH [hg38]
dbVarNEFH
ClinVarNEFH
MonarchNEFH
1000_GenomesNEFH 
Exome Variant ServerNEFH
GNOMAD BrowserENSG00000100285
Varsome BrowserNEFH
Genomic Variants (DGV)NEFH [DGVbeta]
DECIPHERNEFH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNEFH 
Mutations
ICGC Data PortalNEFH 
TCGA Data PortalNEFH 
Broad Tumor PortalNEFH
OASIS PortalNEFH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNEFH  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNEFH
Mutations and Diseases : HGMDNEFH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NEFH
DgiDB (Drug Gene Interaction Database)NEFH
DoCM (Curated mutations)NEFH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NEFH (select a term)
intoGenNEFH
Cancer3DNEFH(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM105400    162230    616924   
Orphanet106   
DisGeNETNEFH
MedgenNEFH
Genetic Testing Registry NEFH
NextProtP12036 [Medical]
GENETestsNEFH
Target ValidationNEFH
Huge Navigator NEFH [HugePedia]
ClinGenNEFH
Clinical trials, drugs, therapy
MyCancerGenomeNEFH
Protein Interactions : CTD
Pharm GKB GenePA31540
PharosP12036
Clinical trialNEFH
Miscellaneous
canSAR (ICR)NEFH (select the gene name)
HarmonizomeNEFH
DataMed IndexNEFH
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNEFH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 1 18:28:37 CET 2021
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