SH3BP2

SH3 domain binding protein 2

Summary

The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Known Variants641 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1709004	4:2,814,148	A/G	—	benign
rs780607468	4:2,814,173	C/T	—	uncertain significance
rs764614647	4:2,814,193	C/T	—	likely benign
rs1314289955	4:2,814,203	A/G	—	uncertain significance
rs2530302740	4:2,819,960	T/G	—	uncertain significance
rs1314437432	4:2,819,963	G/C	—	uncertain significance
rs1577352308	4:2,819,981	T/G	—	uncertain significance
rs868817457	4:2,819,997	C/T	—	uncertain significance
rs1304494768	4:2,820,008	G/T	—	uncertain significance
rs866128602	4:2,820,026	G/A	—	uncertain significance
rs1343869508	4:2,820,039	C/T	—	uncertain significance
rs28507721	4:2,820,169	C/G	—	benign
rs28562583	4:2,820,261	G/A	—	benign
rs548710607	4:2,820,560	G/T	—	benign
rs568447008	4:2,820,561	A/C	—	benign
rs78035476	4:2,820,703	C/T	—	benign
rs372664062	4:2,820,751	C/T	—	uncertain significance
rs231401	4:2,822,162	A/G	—	benign
rs2239727	4:2,822,289	A/C	—	benign
rs56323343	4:2,822,307	T/C	—	benign
rs1577354982	4:2,822,345	A/G	—	uncertain significance
rs376112456	4:2,822,350	G/A	—	likely benign
rs1455119402	4:2,822,352	C/T	—	uncertain significance
rs750753010	4:2,822,357	G/A	—	uncertain significance
rs370829171	4:2,822,359	G/C	—	uncertain significance
rs766753967	4:2,822,368	G/C	—	uncertain significance
rs751798471	4:2,822,376	C/T	—	conflicting classifications of pathogenicity
rs148117486	4:2,822,378	A/G	—	conflicting classifications of pathogenicity
rs752692422	4:2,822,383	G/A	—	likely benign
rs755936125	4:2,822,386	C/T	—	likely benign
rs777574434	4:2,822,388	T/C	—	uncertain significance
rs2530312300	4:2,822,393	G/A	—	uncertain significance
rs2530312324	4:2,822,403	T/A	—	uncertain significance
rs1724253647	4:2,822,411	A/T	—	uncertain significance
rs1724253944	4:2,822,415	C/G	—	uncertain significance
rs770692755	4:2,822,422	C/T	—	likely benign
rs200207198	4:2,822,423	G/A	—	likely benign
rs745515987	4:2,822,425	G/T	—	conflicting classifications of pathogenicity
rs375419257	4:2,822,440	C/T	—	likely benign
rs774809755	4:2,822,441	C/T	—	likely benign
rs773829474	4:2,822,456	G/A	—	uncertain significance
rs766841076	4:2,822,458	T/C	—	likely benign
rs231402	4:2,822,467	G/T	—	benign
rs2530312581	4:2,822,469	A/C	—	uncertain significance
rs368574144	4:2,822,471	C/G	—	uncertain significance
rs777738094	4:2,822,485	G/A	—	uncertain significance
rs11943093	4:2,822,675	C/T	—	benign
rs759834339	4:2,824,651	A/G	—	likely benign
rs767584072	4:2,824,655	C/T	—	likely benign
rs760711223	4:2,824,668	T/C	—	uncertain significance
rs765023340	4:2,824,685	C/A	—	uncertain significance
rs758096402	4:2,824,691	C/T	—	conflicting classifications of pathogenicity
rs779608979	4:2,824,692	G/A	—	uncertain significance
rs113748730	4:2,824,696	C/T	—	benign
rs754590367	4:2,824,697	G/A	—	conflicting classifications of pathogenicity
rs749816726	4:2,824,699	C/T	—	likely benign
rs1724390111	4:2,824,719	C/T	—	uncertain significance
rs2108728412	4:2,824,724	G/A	—	uncertain significance
rs1453291264	4:2,824,730	C/T	—	uncertain significance
rs775642148	4:2,824,731	C/T	—	uncertain significance
rs1017260878	4:2,824,732	G/A	—	likely benign
rs553536573	4:2,824,738	C/T	—	benign
rs532591178	4:2,824,746	C/T	—	uncertain significance
rs142944605	4:2,824,750	G/C	—	likely benign
rs1724392521	4:2,824,753	T/G	—	uncertain significance
rs2108728465	4:2,824,755	G/C	—	uncertain significance
rs765115089	4:2,824,758	A/G	—	uncertain significance
rs372066896	4:2,824,763	C/T	—	uncertain significance
rs147432096	4:2,824,764	G/A	—	likely benign
rs780878297	4:2,824,774	C/T	—	likely benign
rs755662443	4:2,824,782	C/T	—	likely benign
rs573351563	4:2,824,783	T/C	—	benign
rs41264713	4:2,824,848	T/A	—	benign
rs752456141	4:2,826,324	G/A	—	likely benign
rs763517516	4:2,826,326	C/T	—	likely benign
rs1447351005	4:2,826,333	C/G	—	likely benign
rs1560106586	4:2,826,339	G/A	—	uncertain significance
rs758854321	4:2,826,341	G/T	—	uncertain significance
rs2530324431	4:2,826,344	A/T	—	uncertain significance
rs139626310	4:2,826,347	C/A	—	likely benign
rs776318503	4:2,826,348	G/A	—	uncertain significance
rs149515000	4:2,826,352	G/A	—	likely benign
rs890566926	4:2,826,356	G/T	—	uncertain significance
rs748371031	4:2,826,367	G/A	—	likely benign
rs140326137	4:2,826,376	C/T	—	benign
rs2530324553	4:2,826,379	T/C	—	uncertain significance
rs1278859289	4:2,826,382	C/G	—	uncertain significance
rs548574112	4:2,826,396	T/A	—	uncertain significance
rs745787410	4:2,826,398	C/T	—	uncertain significance
rs142051964	4:2,826,399	A/G	—	likely benign
rs3213501	4:2,826,400	C/T	—	benign
rs2530324641	4:2,826,403	C/T	—	likely benign
rs1484027719	4:2,826,405	G/C	—	uncertain significance
rs760277294	4:2,826,416	C/T	—	uncertain significance
rs368951667	4:2,826,420	C/T	—	uncertain significance
rs140178337	4:2,826,421	G/A	—	likely benign
rs764725571	4:2,826,430	C/T	—	likely benign
rs752071353	4:2,826,432	C/T	—	uncertain significance
rs554077647	4:2,826,433	G/A	—	likely benign
rs767897689	4:2,826,434	G/T	—	uncertain significance

Showing 100 of 641 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.