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NEFH (neurofilament, heavy polypeptide)

Identity

Other namesNFH
HGNC (Hugo) NEFH
LocusID (NCBI) 4744
Atlas_Id 51698
Location 22q12.2
Location_base_pair Starts at 29876181 and ends at 29887277 bp from pter ( according to hg19-Feb_2009)

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  4744  neurofilament, heavy polypeptide
GeneCards (Weizmann)NEFH
Ensembl hg19 (Hinxton)ENSG00000100285 [Gene_View]  chr22:29876181-29887277 [Contig_View]  NEFH [Vega]
Ensembl hg38 (Hinxton)ENSG00000100285 [Gene_View]  chr22:29876181-29887277 [Contig_View]  NEFH [Vega]
ICGC DataPortalENSG00000100285
TCGA cBioPortalNEFH
AceView (NCBI)NEFH
Genatlas (Paris)NEFH
WikiGenes4744
SOURCE (Princeton)NEFH
Genomic and cartography
GoldenPath hg19 (UCSC)NEFH  -     chr22:29876181-29887277 +  22q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NEFH  -     22q12.2   [Description]    (hg38-Dec_2013)
EnsemblNEFH - 22q12.2 [CytoView hg19]  NEFH - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBINEFH [Mapview hg19]  NEFH [Mapview hg38]
OMIM105400   162230   
Gene and transcription
Genbank (Entrez)AA908662 AB020652 AF203032 AK302660 BC008648
RefSeq transcript (Entrez)NM_021076
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_008404 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)NEFH
Cluster EST : UnigeneHs.198760 [ NCBI ]
CGAP (NCI)Hs.198760
Alternative Splicing : Fast-db (Paris)GSHG0019935
Alternative Splicing GalleryENSG00000100285
Gene ExpressionNEFH [ NCBI-GEO ]     NEFH [ SEEK ]   NEFH [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4744
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12036 (Uniprot)
NextProtP12036  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12036
Splice isoforms : SwissVarP12036 (Swissvar)
PhosPhoSitePlusP12036
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)DUF1388    IF    Intermediate_filament_CS   
Domain families : Pfam (Sanger)DUF1388 (PF07142)    Filament (PF00038)   
Domain families : Pfam (NCBI)pfam07142    pfam00038   
DMDM Disease mutations4744
Blocks (Seattle)NEFH
Human Protein AtlasENSG00000100285
Peptide AtlasP12036
HPRD01204
IPIIPI00910602   IPI00386758   IPI01025089   
Protein Interaction databases
DIP (DOE-UCLA)P12036
IntAct (EBI)P12036
FunCoupENSG00000100285
BioGRIDNEFH
IntegromeDBNEFH
STRING (EMBL)NEFH
ZODIACNEFH
Ontologies - Pathways
QuickGOP12036
Ontology : AmiGOmicrotubule cytoskeleton organization  ovarian follicle atresia  structural molecule activity  structural constituent of cytoskeleton  nucleus  cytoplasm  mitochondrion  neurofilament  axonogenesis  microtubule binding  toxic substance binding  kinesin binding  protein kinase binding  spinal cord development  hippocampus development  cerebral cortex development  cell projection assembly  axon  protein binding, bridging  axon regeneration  neurofilament bundle assembly  cellular response to oxidative stress  response to cocaine  perikaryon  myelin sheath  dynein binding  protein heterodimerization activity  peripheral nervous system neuron axonogenesis  axon development  cellular response to estradiol stimulus  neurofibrillary tangle  neuronal postsynaptic density  regulation of organelle transport along microtubule  response to sodium arsenite  response to acrylamide  
Ontology : EGO-EBImicrotubule cytoskeleton organization  ovarian follicle atresia  structural molecule activity  structural constituent of cytoskeleton  nucleus  cytoplasm  mitochondrion  neurofilament  axonogenesis  microtubule binding  toxic substance binding  kinesin binding  protein kinase binding  spinal cord development  hippocampus development  cerebral cortex development  cell projection assembly  axon  protein binding, bridging  axon regeneration  neurofilament bundle assembly  cellular response to oxidative stress  response to cocaine  perikaryon  myelin sheath  dynein binding  protein heterodimerization activity  peripheral nervous system neuron axonogenesis  axon development  cellular response to estradiol stimulus  neurofibrillary tangle  neuronal postsynaptic density  regulation of organelle transport along microtubule  response to sodium arsenite  response to acrylamide  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
Protein Interaction DatabaseNEFH
Atlas of Cancer Signalling NetworkNEFH
Wikipedia pathwaysNEFH
Orthology - Evolution
OrthoDB4744
GeneTree (enSembl)ENSG00000100285
Phylogenetic Trees/Animal Genes : TreeFamNEFH
Homologs : HomoloGeneNEFH
Homology/Alignments : Family Browser (UCSC)NEFH
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNEFH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEFH
dbVarNEFH
ClinVarNEFH
1000_GenomesNEFH 
Exome Variant ServerNEFH
Exome Aggregation Consortium (ExAC)ENSG00000100285
SNP (GeneSNP Utah)NEFH
SNP : HGBaseNEFH
Genetic variants : HAPMAPNEFH
Genomic Variants (DGV)NEFH [DGVbeta]
Mutations
ICGC Data PortalNEFH 
TCGA Data PortalNEFH 
Tumor PortalNEFH
TCGA Copy Number PortalNEFH
Somatic Mutations in Cancer : COSMICNEFH 
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)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:29876181-29887277
CONAN: Copy Number AnalysisNEFH 
Mutations and Diseases : HGMDNEFH
OMIM105400    162230   
MedgenNEFH
NextProtP12036 [Medical]
TSGene4744
GENETestsNEFH
Huge Navigator NEFH [HugePedia]  NEFH [HugeCancerGEM]
snp3D : Map Gene to Disease4744
BioCentury BCIQNEFH
General knowledge
Chemical/Protein Interactions : CTD4744
Chemical/Pharm GKB GenePA31540
Clinical trialNEFH
Other databases
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEFH
GoPubMedNEFH
iHOPNEFH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 19:07:55 CET 2016

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