ADCY5
adenylate cyclase 5
Summary
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Known Variants678 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13317079 | 3:123,003,298 | C/A | downstream gene variant | likely benign |
| rs112321119 | 3:123,003,464 | C/T | — | likely benign |
| rs117446067 | 3:123,003,465 | G/A | — | likely benign |
| rs765664080 | 3:123,003,477 | T/C | — | uncertain significance |
| rs1938609382 | 3:123,003,486 | T/C | — | uncertain significance |
| rs142247122 | 3:123,003,492 | A/G | — | uncertain significance |
| rs2472591652 | 3:123,003,493 | T/G | — | uncertain significance |
| rs945526595 | 3:123,003,499 | C/T | — | uncertain significance |
| rs751586992 | 3:123,003,500 | G/T | — | likely benign |
| rs1553715767 | 3:123,003,505 | T/C | — | uncertain significance |
| rs770071397 | 3:123,003,524 | G/A | — | likely benign |
| rs2108148749 | 3:123,003,529 | G/A | — | pathogenic |
| rs2108148782 | 3:123,003,531 | C/T | — | uncertain significance |
| rs140582739 | 3:123,003,545 | C/T | — | likely benign |
| rs201599722 | 3:123,003,546 | G/A | — | uncertain significance |
| rs141058563 | 3:123,003,557 | C/T | — | conflicting classifications of pathogenicity |
| rs2472592384 | 3:123,003,562 | C/T | — | uncertain significance |
| rs140908742 | 3:123,003,572 | G/A | — | uncertain significance |
| rs1401020870 | 3:123,003,586 | G/A | — | uncertain significance |
| rs763411878 | 3:123,003,592 | G/T | — | likely benign |
| rs1329353141 | 3:123,003,601 | G/A | — | likely benign |
| rs56140025 | 3:123,003,687 | G/A | — | likely benign |
| rs772583101 | 3:123,005,513 | T/C | — | likely benign |
| rs1345305850 | 3:123,005,540 | G/A | — | uncertain significance |
| rs776449908 | 3:123,005,543 | C/T | — | uncertain significance |
| rs377309404 | 3:123,005,544 | G/A | — | likely benign |
| rs764340902 | 3:123,005,547 | T/C | — | likely benign |
| rs2472605168 | 3:123,005,564 | T/C | — | uncertain significance |
| rs1064797295 | 3:123,005,566 | C/T | — | uncertain significance |
| rs750439767 | 3:123,005,567 | G/A | — | uncertain significance |
| rs1938794666 | 3:123,005,576 | C/T | — | uncertain significance |
| rs138624072 | 3:123,005,577 | G/A | — | likely benign |
| rs1057522767 | 3:123,005,590 | C/A | — | uncertain significance |
| rs2108162874 | 3:123,005,596 | A/G | — | uncertain significance |
| rs1553716347 | 3:123,005,605 | T/G | — | uncertain significance |
| rs148824947 | 3:123,005,614 | C/T | — | uncertain significance |
| rs1455176936 | 3:123,005,630 | C/T | — | uncertain significance |
| rs778567256 | 3:123,005,631 | G/A | — | likely benign |
| rs758210719 | 3:123,005,639 | C/T | — | uncertain significance |
| rs746474779 | 3:123,005,646 | G/A | — | likely benign |
| rs2472605922 | 3:123,005,655 | C/T | — | uncertain significance |
| rs78780044 | 3:123,005,924 | A/G | — | benign |
| rs140582428 | 3:123,008,404 | G/T | — | likely benign |
| rs4677881 | 3:123,008,519 | T/G | — | benign |
| rs146421646 | 3:123,008,577 | C/A | — | likely benign |
| rs758239876 | 3:123,008,580 | C/A | — | likely benign |
| rs2108182783 | 3:123,008,592 | C/T | — | uncertain significance |
| rs761168623 | 3:123,008,672 | C/T | — | uncertain significance |
| rs771483790 | 3:123,008,673 | G/A | — | likely benign |
| rs112940680 | 3:123,008,709 | G/A | — | benign |
| rs372969062 | 3:123,008,720 | C/T | — | uncertain significance |
| rs754358998 | 3:123,008,721 | G/A | — | likely benign |
| rs377164650 | 3:123,008,727 | G/A | — | likely benign |
| rs375437829 | 3:123,008,730 | G/A | — | likely benign |
| rs2108184108 | 3:123,008,744 | A/G | — | uncertain significance |
| rs113566464 | 3:123,008,754 | G/A | — | likely benign |
| rs1939037737 | 3:123,008,772 | C/T | — | likely benign |
| rs1553717166 | 3:123,008,777 | G/T | — | uncertain significance |
| rs148137277 | 3:123,008,785 | C/T | — | likely benign |
| rs2472622520 | 3:123,008,788 | T/C | — | uncertain significance |
| rs200030919 | 3:123,008,791 | T/C | — | uncertain significance |
| rs141922371 | 3:123,008,793 | G/A | — | conflicting classifications of pathogenicity |
| rs1939040218 | 3:123,008,796 | G/A | — | likely benign |
| rs2108184720 | 3:123,008,798 | T/C | — | uncertain significance |
| rs1939040952 | 3:123,008,807 | T/G | — | likely benign |
| rs200511297 | 3:123,008,815 | G/A | — | likely benign |
| rs201570023 | 3:123,008,816 | C/A | — | likely benign |
| rs77853756 | 3:123,008,912 | G/A | — | benign |
| rs56235212 | 3:123,008,965 | G/A | — | likely benign |
| rs9878646 | 3:123,009,045 | G/A | — | benign |
| rs13096385 | 3:123,009,824 | T/C | — | benign |
| rs73186452 | 3:123,009,859 | T/C | — | benign |
| rs199529365 | 3:123,009,950 | C/T | — | likely benign |
| rs147225931 | 3:123,009,951 | G/A | — | benign |
| rs61734575 | 3:123,009,955 | T/G | — | uncertain significance |
| rs774740790 | 3:123,009,975 | G/A | — | likely benign |
| rs1388338484 | 3:123,009,985 | T/C | — | uncertain significance |
| rs570211678 | 3:123,010,005 | G/A | — | likely benign |
| rs1939121721 | 3:123,010,010 | C/T | — | uncertain significance |
| rs1553717600 | 3:123,010,013 | C/T | — | uncertain significance |
| rs139954925 | 3:123,010,014 | G/A | — | likely benign |
| rs149775261 | 3:123,010,034 | C/T | — | conflicting classifications of pathogenicity |
| rs754513831 | 3:123,010,035 | G/A | — | likely benign |
| rs1939123861 | 3:123,010,036 | T/C | — | uncertain significance |
| rs138277738 | 3:123,010,044 | G/A | — | likely benign |
| rs1939124750 | 3:123,010,045 | G/A | — | uncertain significance |
| rs781612577 | 3:123,010,053 | G/T | — | likely benign |
| rs750807988 | 3:123,010,055 | C/T | — | uncertain significance |
| rs780459593 | 3:123,010,056 | G/A | — | likely benign |
| rs2108194025 | 3:123,010,063 | G/A | — | uncertain significance |
| rs111603078 | 3:123,010,074 | C/T | — | likely benign |
| rs146298419 | 3:123,010,104 | C/T | — | benign |
| rs2108194433 | 3:123,010,107 | A/C | — | likely benign |
| rs759519156 | 3:123,010,115 | G/A | — | uncertain significance |
| rs764692395 | 3:123,010,118 | G/A | — | uncertain significance |
| rs752267672 | 3:123,010,122 | G/A | — | likely benign |
| rs762578500 | 3:123,010,123 | C/T | — | uncertain significance |
| rs377330980 | 3:123,010,124 | G/A | — | uncertain significance |
| rs144292688 | 3:123,010,139 | C/T | — | uncertain significance |
| rs754369625 | 3:123,010,140 | G/A | — | likely benign |
Showing 100 of 678 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.