SMOC2

SPARC related modular calcium binding 2

Summary

This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Known Variants104 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs143067962	6:168,841,947	C/T	—	benign
rs76776636	6:168,842,014	A/G	—	benign
rs2483030686	6:168,842,063	C/T	—	pathogenic
rs1381303486	6:168,842,102	C/G	—	uncertain significance
rs181854551	6:168,842,107	G/T	—	likely benign
rs553730194	6:168,842,110	C/G	—	likely benign
rs73270928	6:168,842,113	T/G	—	benign
rs922656607	6:168,842,127	C/T	—	uncertain significance
rs786200927	6:168,842,135	G/T	—	pathogenic
rs55830022	6:168,864,977	C/G	—	—
rs552018373	6:168,893,444	C/T	—	—
rs144544601	6:168,895,534	T/C	intron variant	—
rs548689179	6:168,896,584	G/A	—	—
rs2749256	6:168,910,443	C/G	—	benign
rs141002558	6:168,910,644	C/T	—	uncertain significance
rs527301846	6:168,910,646	G/A	—	uncertain significance
rs150344348	6:168,910,650	C/T	—	uncertain significance
rs745834330	6:168,910,697	C/T	—	uncertain significance
rs773919964	6:168,910,713	G/A	—	uncertain significance
rs981811478	6:168,910,743	T/C	—	uncertain significance
rs146188888	6:168,910,752	G/A	—	uncertain significance
rs756625876	6:168,910,753	A/G	—	likely benign
rs4708744	6:168,911,020	T/A	—	benign
rs4708747	6:168,923,218	C/T	intron variant	—
rs6919839	6:168,926,785	G/A	—	benign
rs1378145545	6:168,927,038	G/A	—	uncertain significance
rs148001174	6:168,927,054	G/A	—	benign
rs369401675	6:168,927,071	C/T	—	uncertain significance
rs373126694	6:168,927,073	C/T	—	uncertain significance
rs1479338143	6:168,927,097	A/T	—	uncertain significance
rs2483215560	6:168,927,110	A/G	—	uncertain significance
rs771480121	6:168,927,117	C/T	—	likely benign
rs139928472	6:168,927,126	C/T	—	likely benign
rs753133484	6:168,927,139	G/A	—	likely benign
rs12111003	6:168,927,213	G/A	—	benign
rs2255680	6:168,927,449	T/C	—	benign
rs2224209	6:168,928,225	G/A	—	benign
rs2609287	6:168,928,251	C/T	—	benign
rs370160406	6:168,928,297	C/T	—	benign
rs373406001	6:168,928,344	G/A	—	uncertain significance
rs1399958590	6:168,928,356	G/A	—	uncertain significance
rs1026946294	6:168,928,379	C/T	—	likely benign
rs41266323	6:168,928,393	C/T	—	uncertain significance
rs2609286	6:168,928,519	C/T	—	benign
rs13208776	6:168,941,624	G/C	—	—
rs147674906	6:168,944,347	A/G	—	uncertain significance
rs755443720	6:168,944,359	A/G	—	likely benign
rs2277088	6:168,947,538	T/C	—	benign
rs758780266	6:168,947,769	C/T	—	uncertain significance
rs200387810	6:168,947,785	C/T	—	likely benign
rs148739743	6:168,947,786	G/A	—	uncertain significance
rs188048748	6:168,947,807	G/A	—	uncertain significance
rs368616011	6:168,947,831	C/G	—	uncertain significance
rs9456181	6:168,947,956	G/C	—	benign
rs9346721	6:168,948,055	G/A	—	benign
rs9364464	6:168,948,086	C/G	—	benign
rs4708748	6:168,948,087	G/C	—	benign
rs372597491	6:168,949,828	T/A	—	likely benign
rs375743211	6:168,949,838	A/G	—	uncertain significance
rs573327652	6:168,949,851	A/G	—	uncertain significance
rs140807244	6:168,949,881	C/T	—	conflicting classifications of pathogenicity
rs143484111	6:168,959,871	C/T	intron variant	—
rs875989843	6:168,999,508	T/A	stop gained	pathogenic
rs200774380	6:168,999,589	C/T	—	likely benign
rs760601817	6:168,999,657	G/A	—	uncertain significance
rs41266325	6:168,999,670	C/T	—	benign
rs764245780	6:168,999,671	G/C	—	uncertain significance
rs188541294	6:168,999,687	A/G	—	likely benign
rs375539173	6:168,999,688	A/G	—	uncertain significance
rs58963623	6:169,008,266	T/G	—	—
rs201480157	6:169,008,831	C/G	—	likely benign
rs780524330	6:169,008,841	G/C	—	uncertain significance
rs769226423	6:169,008,844	C/A	—	uncertain significance
rs2115203587	6:169,008,854	G/A	—	uncertain significance
rs202232933	6:169,008,877	C/T	—	uncertain significance
rs34543463	6:169,008,882	C/T	—	benign
rs767000930	6:169,008,890	G/A	—	uncertain significance
rs55667100	6:169,011,245	T/G	intron variant	—
rs35785793	6:169,017,736	C/T	regulatory region variant	—
rs13214402	6:169,018,176	C/T	intron variant	—
rs2281687	6:169,051,151	G/A	—	benign
rs2281688	6:169,051,166	A/G	—	benign
rs148223188	6:169,051,367	C/T	—	uncertain significance
rs373215603	6:169,051,381	C/G	—	uncertain significance
rs2483454110	6:169,051,397	G/A	—	uncertain significance
rs147637517	6:169,051,419	G/A	—	likely benign
rs1787171317	6:169,051,420	G/A	—	uncertain significance
rs2483454294	6:169,051,447	T/C	—	uncertain significance
rs774971325	6:169,051,454	C/T	—	uncertain significance
rs546443480	6:169,051,476	C/T	—	likely benign
rs1222953095	6:169,053,651	C/T	—	uncertain significance
rs758931067	6:169,053,676	G/A	—	likely benign
rs2483457397	6:169,053,709	C/G	—	uncertain significance
rs35778120	6:169,053,715	T/C	—	benign
rs73244546	6:169,053,778	C/T	—	benign
rs2483457728	6:169,053,822	A/G	—	uncertain significance
rs76160670	6:169,053,865	C/T	—	benign
rs35849878	6:169,053,866	G/A	—	likely benign
rs73789163	6:169,053,888	C/T	—	benign
rs117120116	6:169,053,928	C/T	—	benign

Showing 100 of 104 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.