ADCY5
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | adenylate cyclase 5 |
| EntrezGene | 111 |
| PheGenI | 111 |
| VariationViewer | 111 |
| ClinVar | ADCY5 |
| GeneCards | ADCY5 |
| dbSNP | 111 |
| Diseases | ADCY5 |
| SADR | 111 |
| HugeNav | 111 |
| wikipedia | ADCY5 |
| ADCY5 | |
| gopubmed | ADCY5 |
| EVS | ADCY5 |
| HEFalMp | ADCY5 |
| MyGene2 | ADCY5 |
| 23andMe | ADCY5 |
| UniProt | O95622 |
| Ensembl | ENSG00000173175 |
| OMIM | 600293 |
| # SNPs | 13 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057520218 | 0 | 123,325,327 | |
| rs1085308027 | 0 | 123,325,337 | |
| rs11708067 | 0 | 123,346,931 | |
| rs11717195 | 0 | 123,363,551 | |
| rs13317079 | 0 | 123,284,451 | |
| rs2877716 | 0 | 123,375,604 | |
| rs757156390 | 0 | 123,332,657 | |
| rs796065306 | 8 | 123,319,754 | |
| rs797045002 | 0 | 123,325,321 | |
| rs864309483 | 6 | 123,352,464 | |
| rs864309484 | 0 | 123,291,354 | |
| rs864309515 | 0 | 123,352,463 | |
| rs9883204 | 0 | 123,377,973 |
The ADCY5 gene on chromosome 3 encodes adenylyl cyclase type V protein. Mutations inherited in an autosomal dominant manner in the ADCY5 gene can lead to a quite rare familial dyskinesia syndrome. Recently, this disorder has been termed ADCY5-related dyskinesia.
Several popular articles have been written about Lilly Grossman, a young girl ultimately diagnosed based on genome sequencing.[1][2] For a technical review of ADCY5 dyskinesias, see this Gene Review.
The ADCY5 gene mutations that are currently known to be associated with ADCY5-related dyskinesia include:
- rs796065306, aka c.2176G>A or p.Ala726Thr
- c.3086T>A or p.Met1029Lys (no SNP identifier in dbSNP yet)
- c.1252C>T or p.Arg418Trp (no SNP identifier in dbSNP yet)
- c.697T>C or p.Tyr233His (no SNP identifier in dbSNP yet); [PMID 31501304
]
