ADCY3
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | ADCY3 |
| GeneCards | ADCY3 |
| Diseases | ADCY3 |
| wikipedia | ADCY3 |
| ADCY3 | |
| gopubmed | ADCY3 |
| EVS | ADCY3 |
| HEFalMp | ADCY3 |
| MyGene2 | ADCY3 |
| 23andMe | ADCY3 |
| # SNPs | 13 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1127568 | 0 | 24,823,221 | |
| rs11689546 | 0 | 24,907,582 | |
| rs13407913 | 0 | 24,874,775 | |
| rs2033654 | 0 | 24,880,239 | |
| rs2241759 | 0 | 24,841,324 | |
| rs541941351 | 0 | 24,918,797 | |
| rs6545800 | 0 | 24,896,016 | |
| rs6545809 | 0 | 24,903,846 | |
| rs6545814 | 0 | 24,908,447 | |
| rs753529 | 0 | 24,831,392 | |
| rs7586879 | 0 | 24,894,108 | |
| rs7593130 | 0 | 24,916,118 | |
| rs7604576 | 0 | 24,824,539 |
The ADCY3 gene, located on chromosome 2, encodes the protein adenylyl cyclase type 3.
Several papers published in early 2018 report that certain rare mutations in the ADCY3 gene can cause obesity when inherited recessively.[PMID 29311636], [PMID 29311637]
The mutations reported to date as pathogenic for obesity include:
- From [PMID 29311637]:
- rs541941351, c.191A>T (p.Asn64Ile)
- c.3315del (p.Ile1106Serfs*3); no rsID available
- c.2578-1G>A; no rsID available
- c.1268del (p.Gly423Alafs*19); no rsID available
- c.3354_3356del (Phe1118del); no rsID available
- From [PMID 29311636]
- hg19:2:25050478C>T, NM_004036.4:c.2433-1G>A; observed in a Greenlandic cohort; no SNP rsID available
