AutismKB 2.0

Annotation Details for KIAA0528


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Basic Information Top
Gene Symbol:KIAA0528 ( DKFZp779N2044 )
Gene Full Name: KIAA0528
Band: 12p12.1
Quick LinksEntrez ID:9847; OMIM: NA; Uniprot ID:K0528_HUMAN; ENSEMBL ID: ENSG00000111731; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005815IDA-microtubule organizing center-
GO:0005829IDA-cytosol-
GO:0005886IDA-plasma membrane21907143
GO:0005938IDA-cell cortex21907143
GO:0030659IDA-cytoplasmic vesicle membrane21907143
GO:0032587IDA-ruffle membrane21907143
GO ID Evidence Qualifier GO_term References
GO:0005509IDA-calcium ion binding21907143
GO:0005544IDA-calcium-dependent phospholipid binding21907143
GO ID Evidence Qualifier GO_term References
GO:0006906IEA-vesicle fusion-
GO:0010828ISS-positive regulation of glucose transport-
GO:0031340IMP-positive regulation of vesicle fusion21907143
GO:0032869IDA-cellular response to insulin stimulus21907143
GO:0038028ISS-insulin receptor signaling pathway via phosphatidylinositol 3-kinase-
GO:0065002IMP-intracellular protein transmembrane transport21907143
GO:0072659IEA-protein localization to plasma membrane-
GO:0090314IMP-positive regulation of protein targeting to membrane21907143
GO:2001275IEA-positive regulation of glucose import in response to insulin stimulus-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KIAA0528FIBP11460317353931 Affinity Capture-MS
KIAA0528FIBP11518217353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1921991
  • Data Attributes: 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