AutismKB 2.0

Annotation Details for PCTP


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Basic Information Top
Gene Symbol:PCTP ( PC-TP,STARD2 )
Gene Full Name: phosphatidylcholine transfer protein
Band: 17q22
Quick LinksEntrez ID:58488; OMIM: 606055; Uniprot ID:PPCT_HUMAN; ENSEMBL ID: ENSG00000141179; HGNC ID: 8752
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829NAS-cytosol10542325
GO:0005829TAS-cytosol12055623
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding25416956
GO:0008525IDA-phosphatidylcholine transporter activity12055623
GO:0008525TAS-phosphatidylcholine transporter activity10500206
GO:0031210IDA-phosphatidylcholine binding12055623
GO ID Evidence Qualifier GO_term References
GO:0006656TAS-phosphatidylcholine biosynthetic process-
GO:0006869NAS-lipid transport10542325
GO:0015914IDA-phospholipid transport12055623
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:107375
  • 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