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NEFL (neurofilament, light polypeptide)

Identity

Other namesCMT1F
CMT2E
NF-L
NF68
NFL
PPP1R110
HGNC (Hugo) NEFL
LocusID (NCBI) 4747
Location 8p21.2
Location_base_pair Starts at 24808469 and ends at 24814383 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)NEFL   7739
Cards
Entrez_Gene (NCBI)NEFL  4747  neurofilament, light polypeptide
GeneCards (Weizmann)NEFL
Ensembl (Hinxton) [Gene_View]  chr8:24808469-24814383 [Contig_View]  NEFL [Vega]
cBioPortalNEFL
AceView (NCBI)NEFL
Genatlas (Paris)NEFL
WikiGenes4747
SOURCE (Princeton)NM_006158
Genomic and cartography
GoldenPath (UCSC)NEFL  -  8p21.2   chr8:24808469-24814383 -  8p21.2   [Description]    (hg19-Feb_2009)
EnsemblNEFL - 8p21.2 [CytoView]
Mapping of homologs : NCBINEFL [Mapview]
OMIM162280   607684   607734   
Gene and transcription
Genbank (Entrez)AK057731 AK075003 AK127430 AK225975 AK299095
RefSeq transcript (Entrez)NM_006158
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NG_008492 NT_167187 NW_001839127 NW_004929337
Consensus coding sequences : CCDS (NCBI)NEFL
Cluster EST : UnigeneHs.521461 [ NCBI ]
CGAP (NCI)Hs.521461
Alternative Splicing : Fast-db (Paris)GSHG0029474
Gene ExpressionNEFL [ NCBI-GEO ]     NEFL [ SEEK ]   NEFL [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07196 (Uniprot)
NextProtP07196  [Medical]
With graphics : InterProP07196
Splice isoforms : SwissVarP07196 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF [organisation]   Intermed_filament_DNA-bd [organisation]   Intermediate_filament_CS [organisation]   NF-L [organisation]  
Related proteins : CluSTrP07196
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
DMDM Disease mutations4747
Blocks (Seattle)P07196
Peptide AtlasP07196
HPRD01206
IPIIPI00237671   IPI00953284   
Protein Interaction databases
DIP (DOE-UCLA)P07196
IntAct (EBI)P07196
BioGRIDNEFL
InParanoidP07196
Interologous Interaction database P07196
IntegromeDBNEFL
STRING (EMBL)NEFL
Ontologies - Pathways
Ontology : AmiGOstructural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  neurofilament  synaptic transmission  protein C-terminus binding  anterograde axon cargo transport  retrograde axon cargo transport  cell death  axon transport of mitochondrion  axon  protein binding, bridging  TSC1-TSC2 complex  neurofilament bundle assembly  neurofilament bundle assembly  identical protein binding  intermediate filament organization  
Ontology : EGO-EBIstructural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  neurofilament  synaptic transmission  protein C-terminus binding  anterograde axon cargo transport  retrograde axon cargo transport  cell death  axon transport of mitochondrion  axon  protein binding, bridging  TSC1-TSC2 complex  neurofilament bundle assembly  neurofilament bundle assembly  identical protein binding  intermediate filament organization  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
Protein Interaction DatabaseNEFL
Wikipedia pathwaysNEFL
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NEFL
snp3D : Map Gene to Disease4747
SNP (GeneSNP Utah)NEFL
SNP : HGBaseNEFL
Genetic variants : HAPMAPNEFL
Exome VariantNEFL
1000_GenomesNEFL 
Somatic Mutations in Cancer : COSMICNEFL 
CONAN: Copy Number AnalysisNEFL 
Mutations and Diseases : HGMDNEFL
Genomic VariantsNEFL  NEFL [DGVbeta]
dbVarNEFL
ClinVarNEFL
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM162280    607684    607734   
MedgenNEFL
GENETestsNEFL
Disease Genetic AssociationNEFL
Huge Navigator NEFL [HugePedia]  NEFL [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneNEFL
Homology/Alignments : Family Browser (UCSC)NEFL
Phylogenetic Trees/Animal Genes : TreeFamNEFL
Chemical/Protein Interactions : CTD4747
Chemical/Pharm GKB GenePA31542
Clinical trialNEFL
Other databases
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
CoreMineNEFL
iHOPNEFL
OncoSearchNEFL
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 : Sat Jul 26 14:41:04 CEST 2014

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