AutismKB 2.0

Annotation Details for P2RX6


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Basic Information Top
Gene Symbol:P2RX6 ( MGC129625,P2RXL1,P2X6,P2XM )
Gene Full Name: purinergic receptor P2X, ligand-gated ion channel, 6
Band: 22q11.21
Quick LinksEntrez ID:9127; OMIM: 608077; Uniprot ID:P2RX6_HUMAN; ENSEMBL ID: ENSG00000099957; HGNC ID: 8538
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005639IBA-integral component of nuclear inner membrane-
GO:0005737IDA-cytoplasm12088286
GO:0005886TAS-plasma membrane-
GO:0005887IEA-integral component of plasma membrane-
GO:0030054IDA-cell junction12088286
GO:0098794IEA-postsynapse-
GO ID Evidence Qualifier GO_term References
GO:0001614IBA-purinergic nucleotide receptor activity-
GO:0001614NAS-purinergic nucleotide receptor activity12088286
GO:0004888TAS-transmembrane signaling receptor activity9242461
GO:0004931IBA-extracellular ATP-gated cation channel activity-
GO:0004931NAS-extracellular ATP-gated cation channel activity12088286
GO:0005524NAS-ATP binding12088286
GO:0015267TAS-channel activity9242461
GO:0042802IPI-identical protein binding15313628
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport9242461
GO:0006936TAS-muscle contraction9242461
GO:0007165TAS-signal transduction9242461
GO:0007596TAS-blood coagulation-
GO:0033198IEA-response to ATP-
GO:0035590IEA-purinergic nucleotide receptor signaling pathway-
GO:0051260IPI-protein homooligomerization15313628
GO:0060079IEA-excitatory postsynaptic potential-
GO:0098655IEA-cation transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1337113
  • Data Attributes: MGI curated and HomoloGene calculated
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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