MYO9B

myosin IXB

Summary

This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Known Variants216 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10408887	19:17,196,376	G/A	intron variant	—
rs11669463	19:17,199,314	T/C	intron variant	—
rs16981598	19:17,204,327	A/G	downstream gene variant	—
rs10427132	19:17,207,156	T/G	intron variant	—
rs10401600	19:17,209,858	G/T	intron variant	—
rs7249698	19:17,210,615	G/A	upstream gene variant	—
rs371755526	19:17,212,562	G/A	—	uncertain significance
rs201901797	19:17,212,571	C/T	—	uncertain significance
rs770104097	19:17,212,612	G/A	—	uncertain significance
rs767748625	19:17,212,630	C/T	—	uncertain significance
rs765067662	19:17,212,650	C/G	—	uncertain significance
rs570386608	19:17,212,666	G/A	—	uncertain significance
rs35218876	19:17,212,694	G/A	—	likely benign
rs1183490558	19:17,212,769	A/G	—	uncertain significance
rs201695023	19:17,212,770	C/T	—	likely benign
rs747556280	19:17,212,867	G/A	—	uncertain significance
rs771901012	19:17,212,908	G/A	—	likely benign
rs558414794	19:17,212,954	C/T	—	uncertain significance
rs374387496	19:17,212,964	C/T	—	uncertain significance
rs117386912	19:17,212,989	T/C	—	benign
rs2512732253	19:17,213,041	C/G	—	uncertain significance
rs750895121	19:17,213,152	G/A	—	uncertain significance
rs61009079	19:17,213,187	C/T	—	benign
rs745758080	19:17,213,191	G/A	—	uncertain significance
rs376402468	19:17,213,218	G/A	—	uncertain significance
rs373966303	19:17,213,331	C/T	—	likely benign
rs755940982	19:17,213,343	C/G	—	uncertain significance
rs7251862	19:17,213,536	T/C	upstream gene variant	—
rs4808566	19:17,214,051	T/G	regulatory region variant	—
rs8101673	19:17,227,335	C/G	—	—
rs11667918	19:17,232,499	C/T	intron variant	—
rs12971955	19:17,232,775	G/C	—	—
rs12982956	19:17,238,413	A/G	intron variant	—
rs11671326	19:17,239,115	C/T	intron variant	—
rs73928486	19:17,240,393	G/C	—	—
rs12983320	19:17,246,861	T/C	intron variant	—
rs28473332	19:17,248,866	C/T	intron variant	—
rs61166126	19:17,252,974	T/A	—	—
rs11881955	19:17,254,508	A/T	—	—
rs4808579	19:17,255,734	T/A	—	—
rs2512837872	19:17,256,229	C/G	—	uncertain significance
rs12984096	19:17,256,798	G/A	—	—
rs752530375	19:17,263,458	G/A	—	uncertain significance
rs2305769	19:17,264,961	G/C	intron variant	—
rs542205117	19:17,265,138	T/C	—	uncertain significance
rs756333646	19:17,265,210	C/A	—	uncertain significance
rs1000634736	19:17,267,729	G/A	—	uncertain significance
rs779265644	19:17,267,806	C/T	—	likely benign
rs767574380	19:17,270,212	G/A	—	uncertain significance
rs747860077	19:17,270,256	G/A	—	uncertain significance
rs371359736	19:17,273,156	A/G	—	likely benign
rs1209039239	19:17,273,226	C/T	—	uncertain significance
rs751248605	19:17,273,227	G/A	—	uncertain significance
rs1468243331	19:17,273,238	G/T	—	uncertain significance
rs367957981	19:17,278,820	A/G	—	uncertain significance
rs1159956261	19:17,283,197	T/C	—	likely benign
rs2512911922	19:17,283,253	A/T	—	uncertain significance
rs142767244	19:17,283,260	C/T	—	benign
rs2279008	19:17,283,303	T/C	upstream gene variant	—
rs747562657	19:17,283,642	C/T	—	likely benign
rs1568284597	19:17,283,676	G/A	—	uncertain significance
rs766294503	19:17,283,690	C/T	—	likely benign
rs758703603	19:17,283,710	G/A	—	uncertain significance
rs200912082	19:17,283,739	C/T	—	uncertain significance
rs1237927711	19:17,283,740	G/A	—	uncertain significance
rs758039679	19:17,283,751	G/A	—	uncertain significance
rs559495498	19:17,283,759	C/T	—	likely benign
rs2072742531	19:17,283,766	G/A	—	uncertain significance
rs192697428	19:17,283,768	T/C	—	likely benign
rs199841902	19:17,286,467	G/A	—	likely benign
rs201432545	19:17,286,511	T/G	—	uncertain significance
rs756226642	19:17,286,536	G/A	—	likely benign
rs763537742	19:17,286,541	A/G	—	uncertain significance
rs10425917	19:17,286,543	C/T	—	uncertain significance
rs377413547	19:17,291,794	C/G	—	uncertain significance
rs989746910	19:17,291,808	C/G	—	likely benign
rs2305767	19:17,294,296	C/G	—	—
rs369941041	19:17,295,682	G/A	—	likely benign
rs1322393867	19:17,295,757	C/G	—	uncertain significance
rs371481926	19:17,298,761	C/T	synonymous variant	—
rs762506732	19:17,298,814	G/A	—	uncertain significance
rs55959020	19:17,301,935	A/G	—	benign
rs75421081	19:17,301,968	C/T	—	benign
rs962917	19:17,302,247	G/A	intron variant	—
rs763059312	19:17,303,577	G/A	—	uncertain significance
rs150022912	19:17,303,595	C/T	—	uncertain significance
rs376031299	19:17,303,603	C/T	—	uncertain significance
rs980485023	19:17,303,685	G/A	—	uncertain significance
rs2512968344	19:17,303,696	A/G	—	uncertain significance
rs369323151	19:17,303,701	C/T	—	likely benign
rs758092384	19:17,303,723	C/T	—	uncertain significance
rs774490037	19:17,303,724	G/A	—	uncertain significance
rs996894090	19:17,303,736	C/T	—	uncertain significance
rs1545620	19:17,303,774	T/C	missense variant	—
rs2512968533	19:17,303,779	G/C	—	uncertain significance
rs1250410154	19:17,303,795	C/T	—	uncertain significance
rs770167618	19:17,303,796	G/A	—	uncertain significance
rs749800191	19:17,303,807	C/T	—	uncertain significance
rs769218701	19:17,303,808	G/A	—	likely benign
rs376360145	19:17,303,850	G/A	—	uncertain significance

Showing 100 of 216 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.