ERBB3

erb-b2 receptor tyrosine kinase 3

Summary

This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

Known Variants134 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs115699610	12:56,473,780	G/A	—	benign
rs7297175	12:56,473,808	T/C	—	benign
rs74094518	12:56,473,890	T/A	—	benign
rs113949839	12:56,473,892	A/T	—	likely benign
rs34379766	12:56,474,143	C/T	missense variant	—
rs190034531	12:56,474,162	G/A	—	benign
rs3741499	12:56,474,379	T/C	—	benign
rs2271195	12:56,477,489	G/T	—	benign
rs56017157	12:56,477,541	C/T	—	conflicting classifications of pathogenicity
rs374953448	12:56,477,573	G/A	—	uncertain significance
rs760515344	12:56,477,576	G/A	—	uncertain significance
rs2540742315	12:56,477,632	G/A	—	pathogenic
rs1565855722	12:56,477,673	T/G	—	uncertain significance
rs199806001	12:56,477,683	G/A	—	likely benign
rs2271194	12:56,477,694	A/T	—	benign
rs10876870	12:56,478,002	C/A	—	benign
rs12817471	12:56,478,607	G/A	—	benign
rs74928813	12:56,478,614	A/G	—	benign
rs7971751	12:56,478,658	A/C	—	benign
rs73338402	12:56,478,682	A/G	—	benign
rs201378576	12:56,478,802	T/C	—	likely benign
rs1391425493	12:56,478,834	T/C	—	uncertain significance
rs146486757	12:56,478,851	C/T	—	pathogenic
rs1057519893	12:56,478,854	G/A	missense variant	pathogenic
rs569206705	12:56,478,938	C/T	—	uncertain significance
rs2540744460	12:56,479,075	T/A	—	likely benign
rs188955993	12:56,479,088	G/T	—	uncertain significance
rs372736362	12:56,479,094	T/G	—	uncertain significance
rs79581177	12:56,479,214	T/C	—	likely benign
rs79768661	12:56,480,086	C/T	—	likely benign
rs115311663	12:56,480,308	A/T	—	benign
rs925749656	12:56,480,367	G/A	—	uncertain significance
rs560422339	12:56,480,384	G/A	—	likely benign
rs1297817731	12:56,480,425	G/A	—	uncertain significance
rs79222157	12:56,480,474	C/A	—	benign
rs877636	12:56,480,583	G/A	—	benign
rs705696	12:56,480,648	G/A	—	benign
rs112578440	12:56,480,766	A/T	—	likely benign
rs56107455	12:56,481,424	C/T	—	likely benign
rs2136793945	12:56,481,615	A/C	—	uncertain significance
rs77365107	12:56,481,735	G/C	—	likely benign
rs78663322	12:56,481,775	A/G	—	likely benign
rs2136795119	12:56,481,848	G/A	—	uncertain significance
rs1057519817	12:56,481,857	C/A	missense variant	—
rs769400680	12:56,481,901	C/T	—	uncertain significance
rs1057519803	12:56,481,922	G/A	missense variant	uncertain significance
rs2292239	12:56,482,180	T/G	intron variant	benign
rs1057519891	12:56,482,341	G/C	missense variant	uncertain significance
rs1057519892	12:56,482,342	A/T	missense variant	—
rs758130617	12:56,482,642	G/A	—	uncertain significance
rs144377156	12:56,482,854	A/G	—	likely benign
rs75375961	12:56,482,859	G/A	—	benign
rs371094129	12:56,486,538	T/C	—	uncertain significance
rs12320176	12:56,486,575	A/G	—	benign
rs1868759206	12:56,486,602	C/A	—	uncertain significance
rs1565859132	12:56,486,761	A/G	—	likely pathogenic
rs760334728	12:56,486,795	G/A	—	likely benign
rs2540755267	12:56,486,805	C/T	—	likely benign
rs141230043	12:56,486,839	T/C	—	likely pathogenic
rs771935902	12:56,487,184	C/T	—	likely pathogenic
rs2229046	12:56,487,201	T/C	—	benign
rs2540755904	12:56,487,244	T/C	—	uncertain significance
rs372171124	12:56,487,278	G/A	—	likely benign
rs1180555614	12:56,487,308	A/G	—	uncertain significance
rs745490480	12:56,487,320	C/T	—	uncertain significance
rs544630584	12:56,487,321	G/A	—	likely benign
rs775042280	12:56,487,322	C/T	—	uncertain significance
rs751658102	12:56,487,610	G/A	—	uncertain significance
rs140670767	12:56,487,618	C/T	—	likely benign
rs771536549	12:56,487,641	G/C	—	uncertain significance
rs55880327	12:56,487,657	G/C	—	likely benign
rs529431800	12:56,487,873	C/T	—	benign
rs998051593	12:56,487,932	G/C	—	uncertain significance
rs2540757183	12:56,487,946	G/A	—	uncertain significance
rs748595358	12:56,487,972	C/G	—	uncertain significance
rs705708	12:56,488,913	A/G	—	benign
rs150262923	12:56,489,092	C/T	—	likely benign
rs2136815265	12:56,489,442	C/G	—	pathogenic
rs142303928	12:56,489,576	T/C	—	likely benign
rs758297377	12:56,489,585	G/A	—	uncertain significance
rs1229151494	12:56,490,338	A/C	—	uncertain significance
rs2136817698	12:56,490,568	C/G	—	uncertain significance
rs922150399	12:56,490,581	A/G	—	uncertain significance
rs760414488	12:56,490,597	G/C	—	uncertain significance
rs1057519169	12:56,490,631	G/A	—	pathogenic
rs2136818517	12:56,490,913	A/C	—	likely pathogenic
rs144510847	12:56,490,937	C/G	—	benign
rs931676601	12:56,490,980	A/G	missense variant	—
rs141739894	12:56,491,640	A/T	—	benign
rs541947408	12:56,491,715	T/C	—	likely benign
rs1307557023	12:56,491,723	A/T	—	uncertain significance
rs76079275	12:56,491,740	G/C	—	likely benign
rs10783779	12:56,491,880	T/G	—	benign
rs140116753	12:56,491,985	A/G	—	benign
rs2136822199	12:56,492,545	G/A	—	likely pathogenic
rs2136822757	12:56,492,632	G/A	—	pathogenic
rs193920754	12:56,492,652	G/C	—	uncertain significance
rs187874555	12:56,492,971	C/G	—	likely benign
rs1435701051	12:56,493,512	C/T	—	uncertain significance
rs56259600	12:56,493,677	A/G	—	uncertain significance

Showing 100 of 134 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.