P2RX5
Homo sapiens
Gene Name: Purinergic receptor P2X, ligand gated ion channel, 5
Aliases: LRH-1, P2X5, P2X5R
Chromosome No: 17
Chromosome Band: 17p13.2
Genetic Category: Rare single gene variant
Aliases: LRH-1, P2X5, P2X5R
Chromosome No: 17
Chromosome Band: 17p13.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Molecular Function
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
