AutismKB 2.0

Annotation Details for NGFRAP1


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Basic Information Top
Gene Symbol:NGFRAP1 ( BEX3,Bex,DXS6984E,HGR74,NADE )
Gene Full Name: nerve growth factor receptor (TNFRSF16) associated protein 1
Band: Xq22.2
Quick LinksEntrez ID:27018; OMIM: 300361; Uniprot ID:BEX3_HUMAN; ENSEMBL ID: ENSG00000166681; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0005163IEA-nerve growth factor receptor binding-
GO:0005515IPI-protein binding17355907
GO:0008656TAS-cysteine-type endopeptidase activator activity involved in apoptotic process-
GO:0042802IPI-identical protein binding25416956
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006919TAS-activation of cysteine-type endopeptidase activity involved in apoptotic process-
GO:0007275TAS-multicellular organism development2171551
GO:0008625IEA-extrinsic apoptotic signaling pathway via death domain receptors-
GO:0043154TAS-negative regulation of cysteine-type endopeptidase activity involved in apoptotic process-
GO:0043281TAS-regulation of cysteine-type endopeptidase activity involved in apoptotic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NGFRAP1NGFR11087010764727 Affinity Capture-Western; Reconstituted Complex
NGFRAP1NGFR11795610764727 Affinity Capture-Western; Reconstituted Complex
NGFRAP1YWHAE11336311278287 Affinity Capture-Western; Reconstituted Complex
NGFRAP1YWHAE11795611278287 Affinity Capture-Western; Reconstituted Complex
NGFRAP1CCDC85B11619816189514 Two-hybrid
NGFRAP1CCDC85B11795616189514 Two-hybrid
Gene Symbol Interactant Interaction ID References Description
DIABLONGFRAP121539415178455 An unspecified isoform of NADE interacts with Smac. This interaction was modelled on a demonstrated interaction between mouse NADE and human Smac.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1338016
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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


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