Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NEFH (neurofilament, heavy polypeptide)

Identity

Other namesNFH
HGNC (Hugo) NEFH
LocusID (NCBI) 4744
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

External links

Nomenclature
HGNC (Hugo)NEFH   7737
Cards
Entrez_Gene (NCBI)NEFH  4744  neurofilament, heavy polypeptide
GeneCards (Weizmann)NEFH
Ensembl (Hinxton)ENSG00000100285 [Gene_View]  chr22:29876181-29887277 [Contig_View]  NEFH [Vega]
AceView (NCBI)NEFH
Genatlas (Paris)NEFH
WikiGenes4744
SOURCE (Princeton)NM_021076
Genomic and cartography
GoldenPath (UCSC)NEFH  -  22q12.2   chr22:29876181-29887277 +  22q12.2   [Description]    (hg19-Feb_2009)
EnsemblNEFH - 22q12.2 [CytoView]
Mapping of homologs : NCBINEFH [Mapview]
OMIM105400   162230   
Gene and transcription
Genbank (Entrez)AA908662 AB020652 AF203032 AK302660 BC008648
RefSeq transcript (Entrez)NM_021076
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_008404 NT_011520 NW_001838745 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12036 (Uniprot)
NextProtP12036  [Medical]
With graphics : InterProP12036
Splice isoforms : SwissVarP12036 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)DUF1388    IF    Intermediate_filament_CS   
Related proteins : CluSTrP12036
Domain families : Pfam (Sanger)DUF1388 (PF07142)    Filament (PF00038)   
Domain families : Pfam (NCBI)pfam07142    pfam00038   
DMDM Disease mutations4744
Blocks (Seattle)P12036
Human Protein AtlasENSG00000100285
Peptide AtlasP12036
HPRD01204
IPIIPI00910602   IPI00386758   IPI01025089   
Protein Interaction databases
DIP (DOE-UCLA)P12036
IntAct (EBI)P12036
FunCoupENSG00000100285
BioGRIDNEFH
InParanoidP12036
Interologous Interaction database P12036
IntegromeDBNEFH
STRING (EMBL)NEFH
Ontologies - Pathways
Ontology : AmiGOmicrotubule cytoskeleton organization  molecular_function  structural molecule activity  mitochondrion  neurofilament  nervous system development  cell death  axon  intermediate filament bundle assembly  peripheral nervous system neuron axonogenesis  neurofilament cytoskeleton organization  
Ontology : EGO-EBImicrotubule cytoskeleton organization  molecular_function  structural molecule activity  mitochondrion  neurofilament  nervous system development  cell death  axon  intermediate filament bundle assembly  peripheral nervous system neuron axonogenesis  neurofilament cytoskeleton organization  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
REACTOMENEFH
Protein Interaction DatabaseNEFH
Wikipedia pathwaysNEFH
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NEFH
SNP (GeneSNP Utah)NEFH
SNP : HGBaseNEFH
Genetic variants : HAPMAPNEFH
1000_GenomesNEFH 
ICGC programENSG00000100285 
Somatic Mutations in Cancer : COSMICNEFH 
CONAN: Copy Number AnalysisNEFH 
Mutations and Diseases : HGMDNEFH
OMIM105400    162230   
GENETestsNEFH
Disease Genetic AssociationNEFH
Huge Navigator NEFH [HugePedia]  NEFH [HugeCancerGEM]
Genomic VariantsNEFH  NEFH [DGVbeta]
Exome VariantNEFH
dbVarNEFH
ClinVarNEFH
snp3D : Map Gene to Disease4744
General knowledge
Homologs : HomoloGeneNEFH
Homology/Alignments : Family Browser (UCSC)NEFH
Phylogenetic Trees/Animal Genes : TreeFamNEFH
Chemical/Protein Interactions : CTD4744
Chemical/Pharm GKB GenePA31540
Clinical trialNEFH
Cancer Resource (Charite)ENSG00000100285
Other databases
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
CoreMineNEFH
iHOPNEFH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 16:52:57 CEST 2014

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