AutismKB 2.0

Annotation Details for TPD52L1


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Basic Information Top
Gene Symbol:TPD52L1 ( D53,MGC8556,TPD52L2,hD53 )
Gene Full Name: tumor protein D52-like 1
Band: 6q22-q23
Quick LinksEntrez ID:7164; OMIM: 604069; Uniprot ID:TPD53_HUMAN; ENSEMBL ID: ENSG00000111907; HGNC ID: 12006
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm12963375
GO:0048471IDA-perinuclear region of cytoplasm12963375
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding9484778
GO:0042802IPI-identical protein binding9484778
GO:0042803IDA-protein homodimerization activity9484778
GO:0046982IDA-protein heterodimerization activity9484778
GO ID Evidence Qualifier GO_term References
GO:0000086IDA-G2/M transition of mitotic cell cycle16112108
GO:0043406IDA-positive regulation of MAP kinase activity14761963
GO:0046330IDA-positive regulation of JNK cascade14761963
GO:2001235IDA-positive regulation of apoptotic signaling pathway14761963
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1298386
  • 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