Human phenotypes and diseases associated with GPCR dysfunction
A selection of GPCR genes in which variants show a significant association with human phenotypes is given. Some GPCR genes were also identified in studies screening human genomes for LoF variants: *genes intolerant for LoF (Lek et al., 2016).
| GPCR Gene | Human Phenotype | Reference |
|---|---|---|
| ADGRB2* | Progressive spastic paraparesis | Purcell et al., 2017 |
| ADGRC2 | Idiopathic scoliosis | Einarsdottir et al., 2017 |
| ADGRG6 | Adolescent idiopathic scoliosis | Kou et al., 2013 |
| ADGRL2 | Microcephaly with severely reduced sulcation and rhombencephalosynapsis | Vezain et al., 2018 |
| ADORA1 | Early-onset parkinsonism and cognitive dysfunction | Jaberi et al., 2016 |
| ADRB2 | Nocturnal asthma | Turki et al., 1995; Contopoulos-Ioannidis et al., 2005 |
| ADRA2A | Atypical familial partial lipodystrophy | Garg et al., 2016 |
| ADRA2B | Familial adult myoclonic epilepsy/autosomal dominant cortical myoclonus and epilepsy | Guerrini et al., 2001; De Fusco et al., 2014 |
| CCKAR | Cholesterol gallstone disease and obesity | Miller et al., 1995 |
| CHRH2 | Bipolar disorder | Cruceanu et al., 2018 |
| CX3CR1 | Impaired human monocyte survival, developmental dysplasia of the hip | Feldman et al., 2013; Collar et al., 2018 |
| GABBR2 | Early infantile epileptic encephalopathy | EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium, 2014; Hamdan et al., 2017 |
| GPR35 | Albright hereditary osteodystrophy/pseudohypoparathyroidism, and mild-to-moderate mental retardation | Shrimpton et al., 2004; Shim et al., 2014 |
| GPR180 | Congenital microcoria | Fares-Taie et al., 2015 |
| GPR161 | Spina bifida, pituitary stalk interruption syndrome, childhood medulloblastoma | Karaca et al., 2015; Kim et al., 2019; Begemann et al., 2020 |
| HTR2B | Severe impulsivity | Bevilacqua et al., 2010 |
| HTR7 | Autism spectrum disorder | Helsmoortel et al., 2016 |
| LGR4 (GPR48) | Low bone mineral density and osteoporotic fractures, aniridia-genitourinary anomalies-mental retardation syndrome (AGR syndrome) | Styrkarsdottir et al., 2013; Yi et al., 2014 |
| RXFP2 (LGR8) | Cryptorchidism | Gorlov et al., 2002 |
| TAS2R38 | Chronic rhinosinusitis | Lee et al., 2012 |
ADRB2, β2 adrenergic receptor.