AutismKB 2.0

Annotation Details for TPCN1


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Basic Information Top
Gene Symbol:TPCN1 ( FLJ20612,KIAA1169,TPC1 )
Gene Full Name: two pore segment channel 1
Band: 12q24.13
Quick LinksEntrez ID:53373; OMIM: 609666; Uniprot ID:TPC1_HUMAN; ENSEMBL ID: ENSG00000186815; HGNC ID: 18182
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005764TAS-lysosome22012985
GO:0005765IDA-lysosomal membrane19620632
GO:0005765TAS-lysosomal membrane-
GO:0005768TAS-endosome22012985
GO:0005886IBA-plasma membrane-
GO:0010008IDA-endosome membrane19620632
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0005245IEA-voltage-gated calcium channel activity-
GO:0005515IPI-protein binding21903581
GO:0042802IPI-identical protein binding21903581
GO:0072345IDA-NAADP-sensitive calcium-release channel activity19620632
GO:0072345TAS-NAADP-sensitive calcium-release channel activity-
GO ID Evidence Qualifier GO_term References
GO:0010508IDA-positive regulation of autophagy22012985
GO:0034220TAS-ion transmembrane transport-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0051209IEA-release of sequestered calcium ion into cytosol-
GO:0086010IBA-membrane depolarization during action potential-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2182472
  • Data Attributes: MGI curated and HomoloGene calculated
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