IER3IP1

immediate early response 3 interacting protein 1

Summary

This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]

Known Variants91 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs75934126	18:44,679,781	T/C	downstream gene variant	—
rs150586939	18:44,682,490	A/G	—	likely benign
rs2144421375	18:44,682,549	C/T	—	likely benign
rs1599991332	18:44,682,558	A/C	—	uncertain significance
rs370448745	18:44,682,559	A/G	—	likely benign
rs2511879758	18:44,682,563	A/G	—	likely benign
rs387907012	18:44,682,564	A/G	missense variant	pathogenic
rs1434519589	18:44,682,566	T/C	—	likely benign
rs2063958344	18:44,682,567	A/T	—	uncertain significance
rs891865496	18:44,682,571	C/A	—	uncertain significance
rs536988795	18:44,682,574	T/C	—	uncertain significance
rs374082811	18:44,682,576	G/C	—	uncertain significance
rs765425942	18:44,682,579	A/G	—	uncertain significance
rs923756205	18:44,682,580	T/C	—	uncertain significance
rs200201845	18:44,682,582	G/A	—	uncertain significance
rs2511879805	18:44,682,597	A/G	—	uncertain significance
rs752017219	18:44,682,598	A/G	—	likely benign
rs1415184784	18:44,682,606	G/A	—	uncertain significance
rs1332522240	18:44,682,613	G/A	—	likely benign
rs2511879825	18:44,682,615	A/G	—	likely benign
rs140558164	18:44,682,860	G/C	—	likely benign
rs2668760	18:44,682,891	T/C	—	benign
rs12326221	18:44,682,893	G/T	—	benign
rs12326412	18:44,683,594	A/C	—	benign
rs1343523103	18:44,683,789	A/G	—	likely benign
rs2511880569	18:44,683,790	T/C	—	likely benign
rs2144423082	18:44,683,807	C/T	—	uncertain significance
rs778702869	18:44,683,809	C/G	—	uncertain significance
rs2063964837	18:44,683,812	A/G	—	uncertain significance
rs2511880586	18:44,683,814	C/A	—	likely benign
rs374653243	18:44,683,817	G/A	—	likely benign
rs201912542	18:44,683,825	C/T	—	uncertain significance
rs149009126	18:44,683,830	C/T	—	conflicting classifications of pathogenicity
rs1235485066	18:44,683,835	A/G	—	likely benign
rs763173824	18:44,683,837	G/A	—	uncertain significance
rs764369878	18:44,683,838	G/T	—	uncertain significance
rs1476264615	18:44,683,844	T/C	—	likely benign
rs1599992528	18:44,683,850	T/C	—	likely benign
rs1423240820	18:44,683,851	G/A	—	uncertain significance
rs61729777	18:44,683,853	T/C	—	likely benign
rs750922610	18:44,683,859	T/A	—	likely benign
rs371854032	18:44,683,862	C/T	—	likely benign
rs779559244	18:44,683,863	G/A	—	uncertain significance
rs2511880658	18:44,683,864	G/A	—	uncertain significance
rs753437838	18:44,683,882	C/A	—	uncertain significance
rs2144423249	18:44,683,884	A/G	—	uncertain significance
rs1215910918	18:44,683,889	C/T	—	likely benign
rs953406190	18:44,683,890	T/A	—	uncertain significance
rs2144423267	18:44,683,892	G/A	—	likely benign
rs2063965398	18:44,683,894	C/G	—	uncertain significance
rs1568070683	18:44,683,913	A/G	—	likely benign
rs772039958	18:44,683,918	G/A	—	conflicting classifications of pathogenicity
rs1568070686	18:44,683,925	T/C	—	likely benign
rs201651367	18:44,683,928	G/C	—	uncertain significance
rs112483860	18:44,684,190	G/A	—	likely benign
rs76922914	18:44,688,454	T/C	intron variant	—
rs12968552	18:44,702,502	A/C	—	benign
rs767947028	18:44,702,543	C/A	—	likely benign
rs2511888801	18:44,702,548	T/A	—	likely benign
rs1351463291	18:44,702,550	C/G	—	likely benign
rs1600005632	18:44,702,551	C/T	—	likely benign
rs2064032870	18:44,702,559	G/A	—	likely benign
rs1011525063	18:44,702,562	C/T	—	likely benign
rs761179293	18:44,702,565	G/C	—	likely benign
rs1568075687	18:44,702,571	T/A	—	likely benign
rs1011485628	18:44,702,578	T/G	—	uncertain significance
rs1409344170	18:44,702,580	G/C	—	uncertain significance
rs1021991165	18:44,702,583	C/T	—	likely benign
rs1600005709	18:44,702,586	C/A	—	likely benign
rs387907011	18:44,702,587	A/C	missense variant	pathogenic
rs964329991	18:44,702,592	G/A	—	likely benign
rs2064033192	18:44,702,595	G/A	—	likely benign
rs1239345376	18:44,702,607	G/C	—	likely benign
rs1352726076	18:44,702,613	G/A	—	likely benign
rs974399795	18:44,702,615	C/G	—	uncertain significance
rs758209602	18:44,702,616	T/G	—	likely benign
rs777482527	18:44,702,617	G/A	—	uncertain significance
rs375955429	18:44,702,619	C/A	—	uncertain significance
rs780054985	18:44,702,622	C/T	—	likely benign
rs964473449	18:44,702,623	A/G	—	uncertain significance
rs369848404	18:44,702,631	G/A	—	likely benign
rs749363298	18:44,702,636	G/C	—	uncertain significance
rs1366709581	18:44,702,637	G/T	—	likely benign
rs2144443779	18:44,702,638	G/C	—	uncertain significance
rs2064033592	18:44,702,639	T/C	—	uncertain significance
rs566078666	18:44,702,645	C/A	—	uncertain significance
rs983642731	18:44,702,647	A/T	—	uncertain significance
rs2144443848	18:44,702,654	T/C	—	uncertain significance
rs548701628	18:44,702,667	C/G	—	likely benign
rs2277717	18:44,702,718	C/A	—	benign
rs191333292	18:44,703,070	G/A	—	likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.