ADA2

adenosine deaminase 2

Summary

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Known Variants419 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10427994	22:17,659,301	A/G	downstream gene variant	—
rs535337577	22:17,662,378	T/G	—	uncertain significance
rs767440845	22:17,662,387	C/T	—	uncertain significance
rs2061968218	22:17,662,396	T/C	—	uncertain significance
rs756397692	22:17,662,408	A/G	—	uncertain significance
rs2123598853	22:17,662,412	C/T	—	likely benign
rs780459163	22:17,662,435	T/C	—	uncertain significance
rs61738625	22:17,662,442	C/G	—	conflicting classifications of pathogenicity
rs45497794	22:17,662,444	C/G	—	uncertain significance
rs769414878	22:17,662,454	C/T	—	likely benign
rs2517274919	22:17,662,457	G/C	—	likely benign
rs2517274947	22:17,662,462	T/G	—	likely pathogenic
rs1460820814	22:17,662,464	T/C	—	uncertain significance
rs774795047	22:17,662,466	C/A	—	uncertain significance
rs2517274981	22:17,662,472	G/C	—	likely benign
rs2123599314	22:17,662,476	G/T	—	likely benign
rs2061969554	22:17,662,479	G/A	—	likely benign
rs750495508	22:17,662,482	G/A	—	likely benign
rs2517275021	22:17,662,484	G/A	—	likely benign
rs11703884	22:17,662,591	C/G	—	benign
rs41282461	22:17,662,679	C/T	—	benign
rs1373238085	22:17,662,690	G/C	—	likely benign
rs58754958	22:17,662,699	G/A	—	benign
rs369050563	22:17,662,704	A/G	—	uncertain significance
rs1179084266	22:17,662,707	C/T	—	uncertain significance
rs1388757088	22:17,662,713	A/G	—	uncertain significance
rs369910191	22:17,662,722	A/G	—	uncertain significance
rs138076444	22:17,662,729	G/T	—	uncertain significance
rs373797039	22:17,662,766	A/G	—	conflicting classifications of pathogenicity
rs61744537	22:17,662,767	A/G	—	uncertain significance
rs748893301	22:17,662,779	A/T	—	pathogenic
rs754552946	22:17,662,781	C/T	—	likely benign
rs778672079	22:17,662,784	A/G	—	likely benign
rs747774101	22:17,662,785	T/C	—	pathogenic
rs7289170	22:17,662,793	A/G	—	benign
rs376785840	22:17,662,794	T/C	missense variant	pathogenic
rs747458336	22:17,662,797	G/C	—	uncertain significance
rs2123600965	22:17,662,798	A/G	—	uncertain significance
rs2061973897	22:17,662,799	C/A	—	uncertain significance
rs771622323	22:17,662,803	C/G	—	uncertain significance
rs1206824905	22:17,662,804	C/T	—	uncertain significance
rs1265300292	22:17,662,817	C/T	—	uncertain significance
rs776544525	22:17,662,818	A/G	—	uncertain significance
rs2517276438	22:17,662,835	G/A	—	likely benign
rs775742013	22:17,662,845	A/G	—	uncertain significance
rs763170250	22:17,662,846	T/C	—	uncertain significance
rs186147069	22:17,662,849	G/A	—	uncertain significance
rs1036121313	22:17,662,850	G/A	—	likely benign
rs370907740	22:17,662,853	C/T	—	likely benign
rs2123601456	22:17,662,869	G/A	—	uncertain significance
rs756045321	22:17,662,874	T/C	—	likely benign
rs77708308	22:17,662,881	T/C	—	uncertain significance
rs1226708979	22:17,662,883	G/C	—	uncertain significance
rs2517276712	22:17,662,886	C/T	—	likely benign
rs142726959	22:17,662,900	C/A	—	uncertain significance
rs543336918	22:17,662,916	C/T	—	likely benign
rs3764846	22:17,662,917	G/A	—	likely benign
rs781688965	22:17,662,918	C/T	—	conflicting classifications of pathogenicity
rs746394863	22:17,662,926	G/C	—	likely benign
rs2061976967	22:17,662,927	G/A	—	likely benign
rs73385929	22:17,663,076	C/G	—	benign
rs772137894	22:17,663,484	T/G	—	likely benign
rs752313204	22:17,663,485	C/T	—	likely benign
rs777618863	22:17,663,508	G/A	—	uncertain significance
rs751280698	22:17,663,510	C/T	—	pathogenic
rs1197542042	22:17,663,512	G/C	—	likely benign
rs2061985965	22:17,663,515	T/C	—	likely benign
rs757658203	22:17,663,519	A/G	—	uncertain significance
rs1168801973	22:17,663,520	T/A	—	uncertain significance
rs1389976009	22:17,663,524	G/A	—	likely benign
rs960845017	22:17,663,530	C/T	—	likely benign
rs1568966771	22:17,663,537	C/T	—	pathogenic
rs2061986476	22:17,663,543	T/G	—	uncertain significance
rs2061986560	22:17,663,549	C/T	—	uncertain significance
rs367563832	22:17,663,557	G/A	—	likely benign
rs780182069	22:17,663,560	G/C	—	uncertain significance
rs749413678	22:17,663,561	T/C	—	uncertain significance
rs762051665	22:17,663,578	T/A	—	likely benign
rs1212466958	22:17,663,585	C/T	—	pathogenic
rs770689762	22:17,663,586	C/T	missense variant	pathogenic
rs776302859	22:17,663,587	G/C	—	uncertain significance
rs765154508	22:17,663,594	G/A	—	uncertain significance
rs561591791	22:17,663,598	T/A	—	uncertain significance
rs763728425	22:17,663,599	G/T	—	uncertain significance
rs375443506	22:17,663,615	T/A	—	uncertain significance
rs2061987911	22:17,663,622	T/A	—	uncertain significance
rs1489114116	22:17,663,623	G/T	—	pathogenic
rs756616828	22:17,663,629	G/A	—	likely benign
rs2061988155	22:17,663,633	A/G	—	uncertain significance
rs780583418	22:17,663,634	T/G	—	uncertain significance
rs2123605324	22:17,663,636	G/A	—	uncertain significance
rs2517279212	22:17,663,643	C/G	—	likely pathogenic
rs755007390	22:17,663,648	C/T	—	pathogenic
rs778965407	22:17,663,653	T/C	—	likely pathogenic
rs748309664	22:17,663,655	A/C	—	likely benign
rs772238679	22:17,663,661	C/T	—	likely benign
rs745689865	22:17,663,662	G/A	—	likely benign
rs1386104189	22:17,663,663	G/T	—	likely benign
rs61208594	22:17,663,804	A/G	—	benign
rs5992634	22:17,664,556	C/T	—	benign

Showing 100 of 419 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.