TRIM2

tripartite motif containing 2

Summary

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Known Variants429 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs76210166	4:154,071,860	C/T	upstream gene variant	—
rs6817112	4:154,080,813	C/A	—	—
rs114737503	4:154,125,346	G/A	—	likely benign
rs28754692	4:154,125,435	T/C	—	benign
rs538966121	4:154,125,681	C/T	—	likely benign
rs988491342	4:154,125,708	C/T	—	uncertain significance
rs10019436	4:154,125,998	T/C	—	benign
rs12644284	4:154,154,000	A/G	regulatory region variant	—
rs72727901	4:154,178,549	G/A	regulatory region variant	—
rs17278176	4:154,188,220	T/G	regulatory region variant	—
rs41280463	4:154,191,226	G/A	—	benign
rs6535912	4:154,191,270	C/T	—	benign
rs2119163	4:154,191,281	T/C	—	benign
rs1005610933	4:154,191,513	C/T	—	likely benign
rs1756388321	4:154,191,536	G/T	—	uncertain significance
rs1394518195	4:154,191,537	G/C	—	uncertain significance
rs2546381877	4:154,191,541	G/T	—	uncertain significance
rs961206561	4:154,191,547	G/A	—	uncertain significance
rs1293116519	4:154,191,551	G/A	—	uncertain significance
rs769878993	4:154,191,562	C/A	—	uncertain significance
rs2546382153	4:154,191,567	T/A	—	uncertain significance
rs2150035241	4:154,191,570	T/G	—	likely benign
rs1320145259	4:154,191,573	G/C	—	likely benign
rs773535787	4:154,191,575	T/C	—	uncertain significance
rs763080800	4:154,191,577	C/T	—	uncertain significance
rs146705057	4:154,191,578	G/A	—	likely benign
rs2546382303	4:154,191,581	A/C	—	uncertain significance
rs2546382394	4:154,191,600	G/C	—	likely benign
rs764154708	4:154,191,609	T/C	—	likely benign
rs980047319	4:154,191,622	C/T	—	uncertain significance
rs1418080739	4:154,191,623	G/A	—	uncertain significance
rs909897473	4:154,191,624	G/T	—	likely benign
rs2546382569	4:154,191,633	T/C	—	likely benign
rs1156297928	4:154,191,639	G/A	—	likely benign
rs558845725	4:154,191,645	C/T	—	likely benign
rs750120043	4:154,191,666	C/T	—	likely benign
rs2150035596	4:154,191,667	G/C	—	uncertain significance
rs1210391935	4:154,191,678	C/T	—	likely benign
rs1579195939	4:154,191,681	C/T	—	likely benign
rs1470104	4:154,191,710	G/A	—	benign
rs6854589	4:154,191,888	A/G	—	benign
rs58657563	4:154,196,808	A/G	—	likely benign
rs749531696	4:154,197,032	G/T	—	likely benign
rs943810322	4:154,197,039	C/T	—	likely benign
rs12644835	4:154,197,049	C/T	—	likely benign
rs1314440662	4:154,197,068	C/T	—	uncertain significance
rs745985238	4:154,197,080	C/T	—	uncertain significance
rs1202525768	4:154,197,091	C/T	—	uncertain significance
rs1757929207	4:154,197,101	G/T	—	uncertain significance
rs114523797	4:154,197,107	C/A	—	uncertain significance
rs1190110289	4:154,197,111	C/T	—	conflicting classifications of pathogenicity
rs370159648	4:154,197,120	C/T	—	likely benign
rs1579254686	4:154,197,134	C/T	—	uncertain significance
rs772795087	4:154,197,135	C/G	—	likely benign
rs762582474	4:154,197,136	G/A	—	uncertain significance
rs1757938373	4:154,197,138	G/A	—	likely benign
rs1757940364	4:154,197,149	A/G	—	uncertain significance
rs1435917917	4:154,197,157	A/G	—	uncertain significance
rs1291797168	4:154,197,159	C/T	—	likely benign
rs536693739	4:154,197,174	C/T	—	likely benign
rs763365056	4:154,197,175	G/A	—	uncertain significance
rs756373909	4:154,197,187	A/G	—	uncertain significance
rs1274752496	4:154,197,189	T/C	—	likely benign
rs778183525	4:154,197,196	A/T	—	uncertain significance
rs374222449	4:154,197,201	C/T	—	likely benign
rs1285958679	4:154,197,202	G/A	—	uncertain significance
rs745893565	4:154,197,206	A/G	—	uncertain significance
rs776363552	4:154,197,217	A/G	—	uncertain significance
rs1387805976	4:154,197,219	C/T	—	likely benign
rs960284176	4:154,197,222	G/A	—	likely benign
rs2289409	4:154,197,234	T/G	—	benign
rs762777040	4:154,197,237	T/C	—	likely benign
rs774018426	4:154,197,244	G/C	—	uncertain significance
rs1012146710	4:154,197,245	C/T	—	uncertain significance
rs534011584	4:154,197,246	G/A	—	conflicting classifications of pathogenicity
rs2546414965	4:154,197,254	C/G	—	uncertain significance
rs2150063164	4:154,197,258	C/T	—	likely benign
rs771241708	4:154,197,273	C/T	—	likely benign
rs140886410	4:154,197,274	G/A	—	uncertain significance
rs2546415120	4:154,197,276	T/A	—	uncertain significance
rs116331959	4:154,197,279	G/A	—	likely benign
rs764734635	4:154,197,290	G/A	—	likely benign
rs1472603089	4:154,197,295	G/A	—	likely benign
rs186617513	4:154,212,023	C/T	—	likely benign
rs1026010658	4:154,212,028	A/C	—	likely benign
rs142096118	4:154,213,836	C/A	—	likely benign
rs116774635	4:154,213,966	C/G	—	likely benign
rs2546508470	4:154,214,116	T/C	—	likely benign
rs749230397	4:154,214,118	C/T	—	likely benign
rs754383694	4:154,214,121	G/C	—	likely benign
rs1033464128	4:154,214,128	C/T	—	likely benign
rs959109286	4:154,214,141	A/G	—	uncertain significance
rs1249856185	4:154,214,151	C/T	—	likely benign
rs1579407719	4:154,214,165	C/A	—	uncertain significance
rs372191383	4:154,214,176	C/T	—	uncertain significance
rs146252965	4:154,214,177	G/A	—	uncertain significance
rs762398531	4:154,214,186	C/T	—	uncertain significance
rs945034696	4:154,214,187	G/A	—	likely benign
rs765913100	4:154,214,190	G/A	—	likely benign
rs375213888	4:154,214,191	G/A	—	uncertain significance

Showing 100 of 429 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.