AutismKB 2.0

Annotation Details for NPHP4


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Basic Information Top
Gene Symbol:NPHP4 ( FLJ46306,KIAA0673,POC10,SLSN4 )
Gene Full Name: nephronophthisis 4
Band: 1p36.31
Quick LinksEntrez ID:261734; OMIM: 607215; Uniprot ID:NPHP4_HUMAN; ENSEMBL ID: ENSG00000131697; HGNC ID: 19104
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005813IDA-centrosome21399614
GO:0005829TAS-cytosol-
GO:0005911IDA-cell-cell junction21565611
GO:0005923IEA-bicellular tight junction-
GO:0016020IC-membrane12006559
GO:0032391IEA-photoreceptor connecting cilium-
GO:0036064IEA-ciliary basal body-
GO:0097470IEA-ribbon synapse-
GO:0097546IEA-ciliary base-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NPHP4NPHP111092712244321 Affinity Capture-Western
NPHP4NPHP112928612244321 Affinity Capture-Western
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2384210
  • Data Attributes: MGI curated and HomoloGene calculated

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