AK2

adenylate kinase 2

Summary

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

Known Variants160 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs147782001	1:33,476,145	T/C	—	benign
rs113702378	1:33,476,350	C/T	—	likely benign
rs113309753	1:33,476,403	G/A	—	likely benign
rs1045885332	1:33,476,435	C/A	—	uncertain significance
rs79775969	1:33,476,727	G/A	—	benign
rs768207363	1:33,478,780	C/T	—	likely benign
rs375860853	1:33,478,782	T/C	—	likely benign
rs752903099	1:33,478,792	A/G	—	uncertain significance
rs267606646	1:33,478,805	T/A	stop gained	pathogenic
rs771562640	1:33,478,832	G/C	—	uncertain significance
rs201817938	1:33,478,841	C/T	—	uncertain significance
rs566166581	1:33,478,842	G/A	—	likely benign
rs755736918	1:33,478,847	C/T	—	uncertain significance
rs765292604	1:33,478,848	G/A	—	likely benign
rs201622956	1:33,478,854	G/A	—	likely benign
rs149659319	1:33,478,860	C/T	—	likely benign
rs139238739	1:33,478,864	G/T	—	uncertain significance
rs1638952544	1:33,478,868	C/T	—	uncertain significance
rs143825456	1:33,478,871	C/T	—	uncertain significance
rs746330303	1:33,478,872	G/C	—	uncertain significance
rs12116440	1:33,478,877	C/T	—	uncertain significance
rs779366586	1:33,478,878	G/A	—	likely benign
rs776378314	1:33,478,880	A/G	—	uncertain significance
rs769651837	1:33,478,887	C/G	—	likely benign
rs202182972	1:33,478,888	C/T	—	uncertain significance
rs200179721	1:33,478,891	C/T	—	likely benign
rs370429097	1:33,478,892	G/A	—	uncertain significance
rs2124279468	1:33,478,897	C/G	—	uncertain significance
rs138151595	1:33,478,899	G/A	—	likely benign
rs113711467	1:33,478,900	T/A	—	uncertain significance
rs1638959411	1:33,478,902	G/C	—	likely pathogenic
rs150186080	1:33,478,905	C/T	—	likely benign
rs111261425	1:33,478,920	G/A	—	benign
rs2124279813	1:33,478,922	T/C	—	uncertain significance
rs1327622268	1:33,478,927	G/T	—	uncertain significance
rs80324279	1:33,478,931	G/C	—	benign
rs754485826	1:33,478,945	C/T	—	uncertain significance
rs267606645	1:33,478,946	G/A	missense variant	pathogenic
rs267606644	1:33,478,954	A/T	stop gained	—
rs559947967	1:33,478,957	G/A	missense variant	uncertain significance
rs72884305	1:33,478,959	C/G	—	benign
rs1000645415	1:33,478,970	C/T	—	uncertain significance
rs1638970615	1:33,478,972	T/C	—	uncertain significance
rs1243124080	1:33,478,978	C/G	—	likely pathogenic
rs1375379850	1:33,478,979	G/C	—	likely pathogenic
rs1452627532	1:33,478,997	C/T	—	uncertain significance
rs61750964	1:33,478,998	G/A	—	likely benign
rs1421627521	1:33,479,008	G/A	—	likely benign
rs752613147	1:33,479,011	C/A	—	likely benign
rs201868300	1:33,479,014	G/A	—	benign
rs749143789	1:33,479,016	A/G	—	likely benign
rs2075986	1:33,479,861	T/C	—	benign
rs144483414	1:33,479,986	T/C	—	likely benign
rs74435473	1:33,480,081	G/C	—	benign
rs368660217	1:33,480,109	C/A	—	likely benign
rs777503956	1:33,480,122	C/T	—	pathogenic
rs747101216	1:33,480,123	G/A	—	likely benign
rs267606643	1:33,480,127	T/C	missense variant	pathogenic
rs1017955673	1:33,480,133	A/G	—	uncertain significance
rs552815574	1:33,480,149	G/A	—	uncertain significance
rs146442876	1:33,480,150	G/C	—	uncertain significance
rs371672441	1:33,480,151	T/C	—	uncertain significance
rs1310416339	1:33,480,156	C/T	—	likely benign
rs1553151168	1:33,480,158	C/T	—	uncertain significance
rs1569584622	1:33,480,159	C/A	—	uncertain significance
rs148421308	1:33,480,161	C/T	—	likely benign
rs1164598375	1:33,480,164	G/C	—	uncertain significance
rs1241229733	1:33,480,168	G/T	—	likely benign
rs149227118	1:33,480,172	C/T	—	uncertain significance
rs987764285	1:33,480,183	G/A	—	likely benign
rs749178848	1:33,480,188	G/C	—	uncertain significance
rs2521965579	1:33,480,189	A/C	—	uncertain significance
rs142517578	1:33,480,192	C/G	—	likely benign
rs2521966148	1:33,480,214	A/G	—	likely benign
rs9970553	1:33,480,364	G/A	—	benign
rs116730792	1:33,486,880	G/A	—	likely benign
rs10399747	1:33,486,935	A/T	—	benign
rs2522070463	1:33,486,954	C/G	—	likely benign
rs2522070802	1:33,486,969	T/C	—	uncertain significance
rs541879563	1:33,486,971	C/G	—	uncertain significance
rs192209857	1:33,486,974	G/A	—	uncertain significance
rs1167260548	1:33,486,983	C/T	—	uncertain significance
rs1476680673	1:33,486,984	G/A	—	pathogenic
rs61750965	1:33,487,007	C/T	—	conflicting classifications of pathogenicity
rs1639545302	1:33,487,016	A/G	—	uncertain significance
rs747116598	1:33,487,017	T/C	—	uncertain significance
rs1340710121	1:33,487,044	T/C	—	uncertain significance
rs2522073040	1:33,487,047	C/T	—	uncertain significance
rs552302095	1:33,487,050	T/A	—	likely benign
rs1485436107	1:33,487,053	G/A	—	uncertain significance
rs200433299	1:33,487,060	G/A	—	likely benign
rs1192619329	1:33,487,063	C/T	—	pathogenic
rs759338139	1:33,487,065	G/A	—	uncertain significance
rs184410375	1:33,487,073	A/G	—	likely benign
rs2124328960	1:33,487,074	T/C	—	likely benign
rs2522074090	1:33,487,077	G/A	—	likely benign
rs1346109447	1:33,487,176	A/G	—	likely benign
rs781550197	1:33,487,186	C/G	—	benign
rs1569646997	1:33,487,189	C/T	—	pathogenic
rs1639559794	1:33,487,193	C/G	—	likely pathogenic

Showing 100 of 160 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.