TANGO2

transport and golgi organization 2 homolog

Summary

This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]

Known Variants359 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4819855	22:20,010,850	G/A	intron variant	—
rs73150851	22:20,012,440	T/A	—	—
rs887205	22:20,020,073	A/T	—	—
rs2008591	22:20,020,229	C/T	upstream gene variant	—
rs2531713	22:20,024,174	G/A	—	benign
rs201345851	22:20,024,318	C/A	—	likely benign
rs543701505	22:20,024,322	A/G	—	uncertain significance
rs869320693	22:20,024,325	—	—	pathogenic
rs527905068	22:20,024,327	C/T	—	likely benign
rs1212736790	22:20,024,331	A/C	—	uncertain significance
rs1057524410	22:20,024,332	T/A	—	uncertain significance
rs374345570	22:20,024,339	T/C	—	likely benign
rs955838517	22:20,024,352	C/T	—	uncertain significance
rs199621230	22:20,024,353	G/A	—	uncertain significance
rs2518305967	22:20,024,357	T/A	—	likely benign
rs761001534	22:20,024,358	G/C	—	uncertain significance
rs2518306392	22:20,024,366	A/G	—	likely benign
rs762759592	22:20,024,369	C/T	—	likely benign
rs142149828	22:20,024,370	G/A	—	conflicting classifications of pathogenicity
rs145901234	22:20,024,371	C/T	—	uncertain significance
rs151161010	22:20,024,372	G/A	—	likely benign
rs2042938429	22:20,024,373	T/A	—	uncertain significance
rs2518307026	22:20,024,381	A/G	—	uncertain significance
rs2042939761	22:20,024,382	C/A	—	uncertain significance
rs2518307172	22:20,024,383	C/T	—	uncertain significance
rs2518307225	22:20,024,384	C/G	—	likely benign
rs1418104467	22:20,024,386	C/T	—	likely benign
rs761581879	22:20,024,387	T/C	—	likely benign
rs767365528	22:20,024,388	C/T	—	likely benign
rs750044970	22:20,024,389	G/T	—	likely benign
rs755836901	22:20,024,390	C/T	—	likely benign
rs2518307602	22:20,024,393	T/G	—	likely benign
rs1209460754	22:20,024,395	C/T	—	likely benign
rs2042943727	22:20,024,396	A/G	—	likely benign
rs376011916	22:20,024,492	A/G	—	likely benign
rs183601770	22:20,024,525	C/T	—	likely benign
rs116666405	22:20,024,555	C/T	—	likely benign
rs186875212	22:20,024,596	C/G	—	likely benign
rs193218285	22:20,024,604	G/A	—	likely benign
rs113697305	22:20,030,657	A/T	—	likely benign
rs409519	22:20,030,749	C/A	—	benign
rs2518519868	22:20,030,858	G/A	—	likely benign
rs2518519935	22:20,030,861	A/T	—	likely benign
rs762273678	22:20,030,862	T/A	—	likely benign
rs2518520172	22:20,030,865	T/C	—	likely benign
rs2147242697	22:20,030,868	C/T	—	likely benign
rs369261835	22:20,030,869	C/G	—	likely benign
rs2518520419	22:20,030,870	T/A	—	likely benign
rs2523419204	22:20,030,874	G/T	—	likely benign
rs750814833	22:20,030,875	C/T	—	uncertain significance
rs780264323	22:20,030,877	G/C	—	pathogenic
rs1191958022	22:20,030,880	T/G	—	uncertain significance
rs754114303	22:20,030,881	C/T	—	likely benign
rs2518521234	22:20,030,885	T/C	—	likely benign
rs2147243578	22:20,030,894	A/C	—	uncertain significance
rs1057520382	22:20,030,898	G/A	missense variant	pathogenic
rs372221548	22:20,030,908	C/G	—	uncertain significance
rs2518521894	22:20,030,911	C/T	—	likely benign
rs199801224	22:20,030,915	C/T	stop gained	pathogenic
rs896249235	22:20,030,916	G/A	—	uncertain significance
rs1026988494	22:20,030,917	A/T	—	likely benign
rs775278902	22:20,030,919	C/T	—	uncertain significance
rs1602090443	22:20,030,920	C/T	—	likely benign
rs2518523051	22:20,030,928	T/G	—	pathogenic
rs2044363027	22:20,030,935	C/T	—	likely benign
rs1224979359	22:20,030,940	G/A	—	pathogenic
rs2044368553	22:20,030,951	A/T	—	uncertain significance
rs746501914	22:20,030,953	C/A	—	uncertain significance
rs761011447	22:20,030,954	G/A	—	uncertain significance
rs2518524847	22:20,030,961	T/C	—	uncertain significance
rs1471249671	22:20,030,967	G/A	—	likely pathogenic
rs2044373884	22:20,030,971	G/A	—	uncertain significance
rs2518525571	22:20,030,978	T/C	—	likely benign
rs377092940	22:20,030,979	G/T	—	benign
rs446388	22:20,030,980	C/A	—	likely benign
rs765324654	22:20,030,981	G/A	—	likely benign
rs752724704	22:20,030,983	G/T	—	likely benign
rs1377087191	22:20,030,984	C/A	—	likely benign
rs45548038	22:20,031,016	G/C	—	benign
rs12627769	22:20,031,102	A/G	—	benign
rs115084231	22:20,039,718	G/A	—	benign
rs3804046	22:20,039,867	C/T	—	benign
rs753021420	22:20,039,971	A/G	—	likely benign
rs1443924382	22:20,039,972	C/T	—	likely benign
rs758405376	22:20,039,973	T/C	—	likely benign
rs2046530899	22:20,039,977	A/G	—	likely benign
rs1233115192	22:20,039,978	T/C	—	likely benign
rs1328647913	22:20,039,991	T/C	—	conflicting classifications of pathogenicity
rs749039931	22:20,039,995	C/T	—	likely benign
rs1171017037	22:20,040,003	A/T	—	uncertain significance
rs1166511567	22:20,040,010	G/A	—	likely benign
rs2046543422	22:20,040,016	A/C	—	likely benign
rs2046544566	22:20,040,029	G/T	—	uncertain significance
rs2518783466	22:20,040,031	C/T	—	likely benign
rs2518783598	22:20,040,034	C/T	—	likely benign
rs777290579	22:20,040,038	A/G	—	uncertain significance
rs1322112288	22:20,040,040	A/G	—	likely benign
rs1235314092	22:20,040,062	A/C	—	uncertain significance
rs2518785669	22:20,040,070	C/T	—	likely benign
rs759806501	22:20,040,071	C/T	—	likely benign

Showing 100 of 359 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.