AutismKB 2.0

Annotation Details for NEFH


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Basic Information Top
Gene Symbol:NEFH ( NFH )
Gene Full Name: neurofilament, heavy polypeptide
Band: 22q12.2
Quick LinksEntrez ID:4744; OMIM: 162230; Uniprot ID:NFH_HUMAN; ENSEMBL ID: ENSG00000100285; HGNC ID: 7737
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm27040688
GO:0005737ISS-cytoplasm-
GO:0005739IEA-mitochondrion-
GO:0005883NAS-neurofilament3138108
GO:0014069IEA-postsynaptic density-
GO:0030424TAS-axon14662745
GO:0043209IEA-myelin sheath-
GO:0097418IDA-neurofibrillary tangle21828286
GO ID Evidence Qualifier GO_term References
GO:0005198IMP-structural molecule activity7536898
GO:0005200ISS-structural constituent of cytoskeleton-
GO:0008017TAS-microtubule binding17498690
GO:0019894TAS-kinesin binding17498690
GO:0019901IPI-protein kinase binding9313898
GO:0030674ISS-protein binding, bridging-
GO:0070840TAS-dynein complex binding17498690
GO ID Evidence Qualifier GO_term References
GO:0000226IEA-microtubule cytoskeleton organization-
GO:0007409TAS-axonogenesis17498690
GO:0030031TAS-cell projection assembly17498690
GO:0033693IMP-neurofilament bundle assembly7536898
GO:0048936IEA-peripheral nervous system neuron axonogenesis-
GO:0061564IMP-axon development7536898
GO:1902513IMP-regulation of organelle transport along microtubule7536898
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PKN1NEFH1108198621664 Reconstituted Complex; Two-hybrid
PKN1NEFH1115718621664 Reconstituted Complex; Two-hybrid
NEFLNEFH1108199388258 Co-purification
NEFLNEFH1108229388258 Co-purification
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97309
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018