AutismKB 2.0

Annotation Details for PDCD1


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Basic Information Top
Gene Symbol:PDCD1 ( CD279,PD1,SLEB2,hPD-1,hPD-l )
Gene Full Name: programmed cell death 1
Band: 2q37.3
Quick LinksEntrez ID:5133; OMIM: 600244; Uniprot ID:PDCD1_HUMAN; ENSEMBL ID: ENSG00000188389; HGNC ID: 8760
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0009897IEA-external side of plasma membrane-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0004871TAS-signal transducer activity1396582
GO:0005515IPI-protein binding17489864
GO ID Evidence Qualifier GO_term References
GO:0002644IEA-negative regulation of tolerance induction-
GO:0006915IEA-apoptotic process-
GO:0006959TAS-humoral immune response9332365
GO:0007165IEA-signal transduction-
GO:0007275TAS-multicellular organism development9332365
GO:0031295TAS-T cell costimulation-
GO:0043066IEA-negative regulation of apoptotic process-
GO:0070234IDA-positive regulation of T cell apoptotic process25281059
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PDCD1LG2PDCD111116012893276 Reconstituted Complex
PDCD1LG2PDCD112325912893276 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:104879
  • 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