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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. NEFH, neurofilament, heavy polypeptide
Sequence ID:NM_021076
RefSeqGene ID:NG_008404
Entrez Gene ID:4744
Ensembl ID:ENSG00000100285

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
AMYOTROPHIC LATERAL SCLEROSISANG
DCTN1
PRPH
SOD1

Cytogenetic Location (from UniGene)

Cytogenetic Location:22q12.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:22: 29866906 - 29887275

NM_021076 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
19542987618029877133
95511542987936329879562
115512792988171129881835
128037172988483729887274

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
6137962Full LengthBC073969neurofilament, heavy polypeptide
3866238IncompleteBC008648neurofilament, heavy polypeptide

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_066554  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_021076 NP_066554   Filament
DUF1388

Related Sequences

 
mRNAGenPeptSwissProt
S66488 AAB28609 Q16070
AF203032 AAF13722 P12036
BC008648 AAH08648 P12036
BC073969 AAH73969 P12036
AB020652 BAA74868 P12036
AK302660 BAG63896 P12036

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens NEFH NP_066554 R.norvegicus Nefh 24587   NP_036739 84
M.musculus Nefh 380684 Gene Info NP_035034 82

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)