AutismKB 2.0

Annotation Details for PKD1L3


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Basic Information Top
Gene Symbol:PKD1L3 ( - )
Gene Full Name: polycystic kidney disease 1-like 3
Band: 16q22.2
Quick LinksEntrez ID:342372; OMIM: 607895; Uniprot ID:; ENSEMBL ID: ENSG00000187008; HGNC ID: 21716
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IDA-plasma membrane20538909
GO:0009986ISScolocalizes_withcell surface-
GO:0034703ISS-cation channel complex-
GO:0043235ISS-receptor complex-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005261ISScontributes_tocation channel activity-
GO:0005262IBA-calcium channel activity-
GO:0005515IPI-protein binding20538909
GO:0008324ISScontributes_tocation transmembrane transporter activity-
GO:0030246IEA-carbohydrate binding-
GO:0033040ISSNOTsour taste receptor activity-
GO:0033040ISScontributes_tosour taste receptor activity-
GO ID Evidence Qualifier GO_term References
GO:0001581ISS-detection of chemical stimulus involved in sensory perception of sour taste-
GO:0001581ISSNOTdetection of chemical stimulus involved in sensory perception of sour taste-
GO:0001822IEA-kidney development-
GO:0006812ISS-cation transport-
GO:0050915IMP-sensory perception of sour taste19812697
GO:0050982IBA-detection of mechanical stimulus-
GO:0070588IEA-calcium ion transmembrane transport-
GO:0071468ISS-cellular response to acidic pH-
GO:0071468ISSNOTcellular response to acidic pH-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PKD1L3VHL11326917353931 Affinity Capture-MS
PKD1L3VHL13117317353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2664670
  • 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