AutismKB 2.0

Annotation Details for PKD1L2


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Basic Information Top
Gene Symbol:PKD1L2 ( DKFZp686J19100,FLJ45333,PC1L2 )
Gene Full Name: polycystic kidney disease 1-like 2
Band: 16q23.2
Quick LinksEntrez ID:114780; OMIM: 607894; Uniprot ID:PK1L2_HUMAN; ENSEMBL ID: ENSG00000166473; HGNC ID: 21715
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0016020IBA-membrane-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0005262IBA-calcium channel activity-
GO:0005509IEA-calcium ion binding-
GO:0030246IEA-carbohydrate binding-
GO ID Evidence Qualifier GO_term References
GO:0050982IBA-detection of mechanical stimulus-
GO:0070588IEA-calcium ion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2664668
  • 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


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