GPR139
Homo sapiens
Gene Name: G protein-coupled receptor 139
Aliases: GPRg1, PGR3
Chromosome No: 16
Chromosome Band: 16p12.3
Genetic Category: Rare Single Gene variant
Aliases: GPRg1, PGR3
Chromosome No: 16
Chromosome Band: 16p12.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 2
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the GPR139 gene have been identified with autism (O'Roak et al., 2011; Sanders et al., 2012).
Molecular Function
G-protein coupled receptor; transducer
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Highly Cited
Molecular cloning and characterization of a novel Gq-coupled orphan receptor GPRg1 exclusively expressed in the central nervous system.
Highly Cited
Nine new human Rhodopsin family G-protein coupled receptors: identification, sequence characterisation and evolutionary relationship.
Recent Recommendation
Identification of surrogate agonists and antagonists for orphan G-protein-coupled receptor GPR139.