AutismKB 2.0

Annotation Details for IQCB1


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Basic Information Top
Gene Symbol:IQCB1 ( NPHP5,PIQ,SLSN5 )
Gene Full Name: IQ motif containing B1
Band: 3q13.33
Quick LinksEntrez ID:9657; OMIM: 609237; Uniprot ID:IQCB1_HUMAN; ENSEMBL ID: ENSG00000173226; HGNC ID: 28949
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001750IEA-photoreceptor outer segment-
GO:0005813IDA-centrosome21399614
GO:0005814IEA-centriole-
GO:0005829TAS-cytosol-
GO:0032391IDA-photoreceptor connecting cilium15723066
GO:0070062IDA-extracellular exosome18570454
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding18723859
GO:0005516IDA-calmodulin binding15723066
GO:0019899IPI-enzyme binding23382074
GO ID Evidence Qualifier GO_term References
GO:0045494IMP-photoreceptor cell maintenance15723066
GO:0048496IMP-maintenance of animal organ identity15723066
GO:0060271ISS-cilium assembly-
GO:0097711TAS-ciliary basal body docking-
Protein-Protein Interaction Top
No data
Gene Symbol Interactant Interaction ID References Description
IQCB1CALM221748015723066 IQCB1 interacts with CALM2.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443764
  • 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