SH2B3

SH2B adaptor protein 3

Summary

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

Known Variants94 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs572454376	12:111,844,086	G/A	—	likely benign
rs540639423	12:111,844,956	C/T	—	—
rs3803170	12:111,847,740	A/T	—	—
rs7309325	12:111,849,515	G/C	—	—
rs530225620	12:111,855,296	T/A	—	—
rs11831659	12:111,855,678	A/G	—	benign
rs376261237	12:111,855,950	A/G	—	pathogenic
rs1871229237	12:111,856,038	G/A	—	uncertain significance
rs758024019	12:111,856,052	G/T	—	uncertain significance
rs2135547121	12:111,856,061	G/A	—	benign
rs757743643	12:111,856,076	C/T	—	uncertain significance
rs1195206241	12:111,856,080	A/G	—	uncertain significance
rs745914275	12:111,856,098	G/T	—	uncertain significance
rs775725883	12:111,856,105	T/G	—	uncertain significance
rs1013284739	12:111,856,121	C/G	—	uncertain significance
rs1219220572	12:111,856,179	G/A	—	uncertain significance
rs754838420	12:111,856,181	G/A	—	uncertain significance
rs1345979601	12:111,856,282	C/T	—	likely benign
rs1329263282	12:111,856,289	G/T	—	uncertain significance
rs751562450	12:111,856,373	C/T	—	uncertain significance
rs769643863	12:111,856,398	C/A	—	uncertain significance
rs531156627	12:111,856,413	C/T	—	uncertain significance
rs1187991360	12:111,856,431	C/T	—	uncertain significance
rs7963692	12:111,856,443	C/G	—	benign
rs370747546	12:111,856,489	G/A	—	likely benign
rs7972796	12:111,856,493	T/C	—	benign
rs183913232	12:111,856,506	G/T	—	likely benign
rs953545115	12:111,856,554	G/C	—	uncertain significance
rs202080221	12:111,856,571	G/T	stop gained	affects
rs778186029	12:111,856,580	A/G	—	uncertain significance
rs111360561	12:111,856,588	C/A	—	uncertain significance
rs2500032872	12:111,856,601	C/A	—	uncertain significance
rs770789973	12:111,856,611	G/T	—	uncertain significance
rs550280553	12:111,856,623	G/C	—	uncertain significance
rs940562223	12:111,856,625	C/T	—	uncertain significance
rs899111445	12:111,856,640	G/T	—	uncertain significance
rs895450742	12:111,856,652	C/T	—	uncertain significance
rs78894077	12:111,856,673	C/T	missense variant	Likely benign
rs539284730	12:111,856,678	C/T	—	likely benign
rs7973120	12:111,856,738	T/A	—	benign
rs12307162	12:111,856,975	T/C	—	benign
rs2078863	12:111,857,487	T/C	intron variant	—
rs575760658	12:111,858,195	A/G	—	—
rs116869429	12:111,863,516	G/A	regulatory region variant	—
rs7310615	12:111,865,049	C/G	intron variant	—
rs61944375	12:111,867,293	A/C	intron variant	—
rs4766462	12:111,871,141	A/C	—	—
rs12371484	12:111,872,722	T/C	—	benign
rs778416429	12:111,872,728	G/A	—	uncertain significance
rs10849948	12:111,875,410	A/G	intron variant	—
rs111442488	12:111,877,302	C/A	intron variant	—
rs112564165	12:111,882,600	A/G	—	benign
rs73410513	12:111,884,289	G/C	—	benign
rs28362508	12:111,884,415	T/C	—	benign
rs142709794	12:111,884,547	G/C	—	likely benign
rs753938825	12:111,884,579	C/G	—	uncertain significance
rs147341899	12:111,884,594	T/C	—	conflicting classifications of pathogenicity
rs1402866378	12:111,884,605	C/T	—	uncertain significance
rs3184504	12:111,884,608	T/C	missense variant	benign
rs149554298	12:111,884,618	G/A	—	uncertain significance
rs143256866	12:111,884,619	G/A	—	likely benign
rs1258425665	12:111,884,636	A/G	—	uncertain significance
rs531965947	12:111,884,815	C/T	—	uncertain significance
rs747361036	12:111,884,830	G/C	—	uncertain significance
rs548009613	12:111,884,942	G/A	—	uncertain significance
rs576672114	12:111,885,134	G/A	—	uncertain significance
rs147318193	12:111,885,143	C/T	—	likely benign
rs773228990	12:111,885,164	C/T	—	uncertain significance
rs374931521	12:111,885,176	C/T	—	uncertain significance
rs1029296641	12:111,885,199	C/T	—	uncertain significance
rs149873711	12:111,885,249	G/A	—	likely benign
rs2500217928	12:111,885,266	C/A	—	uncertain significance
rs148636776	12:111,885,295	G/A	missense variant	pathogenic
rs72650673	12:111,885,310	G/A	—	uncertain significance
rs1171636888	12:111,885,372	T/G	—	benign
rs2135621657	12:111,885,548	A/C	—	uncertain significance
rs775891572	12:111,885,550	C/T	—	uncertain significance
rs768630945	12:111,885,554	C/T	—	uncertain significance
rs773486842	12:111,885,574	G/A	—	uncertain significance
rs780551907	12:111,885,606	C/T	—	likely benign
rs146584688	12:111,885,624	A/G	—	likely benign
rs74163669	12:111,885,804	C/T	—	likely benign
rs939947819	12:111,885,871	T/C	—	conflicting classifications of pathogenicity
rs529644866	12:111,885,879	C/T	—	uncertain significance
rs79819500	12:111,885,901	G/A	—	conflicting classifications of pathogenicity
rs1418415269	12:111,885,934	C/T	—	uncertain significance
rs376914049	12:111,886,029	C/T	—	uncertain significance
rs770527337	12:111,886,063	G/A	—	uncertain significance
rs2500236294	12:111,886,093	A/G	—	uncertain significance
rs1471634898	12:111,886,114	G/C	—	uncertain significance
rs1107853	12:111,886,284	G/A	—	benign
rs11065904	12:111,886,967	T/G	—	—
rs739496	12:111,887,659	A/G	downstream gene variant	—
rs11065905	12:111,887,974	G/A	downstream gene variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.