AutismKB 2.0

Annotation Details for POLDIP3


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Basic Information Top
Gene Symbol:POLDIP3 ( KIAA1649,PDIP46,SKAR )
Gene Full Name: polymerase (DNA-directed), delta interacting protein 3
Band: 22q13.2
Quick LinksEntrez ID:84271; OMIM: 611520; Uniprot ID:PDIP3_HUMAN; ENSEMBL ID: ENSG00000100227; HGNC ID: 23782
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000346IDAcolocalizes_withtranscription export complex20844015
GO:0000932IDA-P-body-
GO:0005654TAS-nucleoplasm-
GO:0005737TAS-cytoplasm18423201
GO:0005829TAS-cytosol-
GO:0016607IDA-nuclear speck18423201
GO:0035145IDAcolocalizes_withexon-exon junction complex18423201
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22658674
GO:0005515IPI-protein binding18423201
GO ID Evidence Qualifier GO_term References
GO:0006369TAS-termination of RNA polymerase II transcription-
GO:0006405TAS-RNA export from nucleus-
GO:0006406TAS-mRNA export from nucleus-
GO:0016973IDA-poly(A)+ mRNA export from nucleus22928037
GO:0031124TAS-mRNA 3'-end processing-
GO:0045727IMP-positive regulation of translation18423201
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
POLDIP3RPS6KB112399815341740 Affinity Capture-Western; Biochemical Activity; Two-hybrid
POLDIP3RPS6KB111211215341740 Affinity Capture-Western; Biochemical Activity; Two-hybrid
POLDIP3USP2011607719615732 Affinity Capture-MS
POLDIP3USP2012399819615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1921076
  • 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