ECM1

extracellular matrix protein 1

Summary

This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

Known Variants98 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1815544	1:150,479,901	C/T	upstream gene variant	—
rs3754217	1:150,480,373	G/T	—	benign
rs141248191	1:150,480,473	G/A	—	likely benign
rs12724450	1:150,480,571	G/A	—	benign
rs116220997	1:150,480,589	G/A	—	benign
rs1290214107	1:150,480,704	G/A	—	uncertain significance
rs11205386	1:150,481,738	C/T	—	benign
rs116804526	1:150,481,896	T/C	—	benign
rs75772057	1:150,481,982	T/C	—	likely benign
rs139236527	1:150,482,013	C/T	—	uncertain significance
rs2526401809	1:150,482,054	G/A	—	uncertain significance
rs375534923	1:150,482,134	T/G	—	uncertain significance
rs201295989	1:150,482,144	C/T	—	likely benign
rs145971597	1:150,482,145	G/A	—	benign
rs748885769	1:150,482,151	C/G	—	uncertain significance
rs184213225	1:150,482,159	C/A	—	likely benign
rs757500507	1:150,482,161	C/A	—	likely benign
rs1364726581	1:150,482,162	A/C	—	likely benign
rs121909115	1:150,482,172	C/T	stop gained	pathogenic
rs41264469	1:150,482,255	G/A	—	benign
rs114699131	1:150,482,278	G/T	—	likely benign
rs1560264656	1:150,482,306	T/C	—	uncertain significance
rs778140685	1:150,482,403	C/T	—	uncertain significance
rs115614690	1:150,482,405	C/T	—	benign
rs779818666	1:150,482,406	C/T	—	uncertain significance
rs189389940	1:150,482,428	C/T	—	uncertain significance
rs587692154	1:150,482,456	C/T	—	likely benign
rs759676873	1:150,482,478	G/A	—	uncertain significance
rs74352693	1:150,482,639	C/T	—	likely benign
rs11205387	1:150,482,738	A/G	—	benign
rs9661040	1:150,483,236	A/C	—	benign
rs376927252	1:150,483,347	T/G	—	conflicting classifications of pathogenicity
rs3737240	1:150,483,355	C/T	missense variant	benign
rs1444572152	1:150,483,361	C/T	—	uncertain significance
rs2526407233	1:150,483,402	A/T	—	uncertain significance
rs1560265435	1:150,483,446	G/A	—	pathogenic
rs373011835	1:150,483,456	C/G	—	uncertain significance
rs121909116	1:150,483,465	T/A	missense variant	pathogenic
rs775224274	1:150,483,469	C/A	—	uncertain significance
rs41264471	1:150,483,471	C/G	—	uncertain significance
rs869025565	1:150,483,473	—	—	pathogenic
rs374399587	1:150,483,478	G/A	—	uncertain significance
rs757740663	1:150,483,610	T/C	—	likely benign
rs1461591997	1:150,483,621	C/T	—	uncertain significance
rs869025566	1:150,483,624	T/G	missense variant	not provided
rs4970979	1:150,483,840	C/T	—	benign
rs373341502	1:150,483,938	G/A	—	likely benign
rs746217361	1:150,483,951	C/T	stop gained	not provided
rs369508778	1:150,483,966	G/T	—	uncertain significance
rs748916198	1:150,483,973	C/T	—	uncertain significance
rs1560266014	1:150,483,984	C/T	—	pathogenic
rs144641352	1:150,484,001	C/T	—	likely benign
rs11801190	1:150,484,004	G/A	—	benign
rs78194273	1:150,484,016	G/A	—	benign
rs200051260	1:150,484,020	C/T	—	uncertain significance
rs756977475	1:150,484,030	G/A	—	pathogenic
rs374599359	1:150,484,031	C/T	—	likely benign
rs869025563	1:150,484,050	C/T	stop gained	not provided
rs143016855	1:150,484,069	G/A	—	uncertain significance
rs368554930	1:150,484,093	A/G	—	likely benign
rs369747136	1:150,484,102	C/T	—	uncertain significance
rs771034233	1:150,484,179	C/T	—	uncertain significance
rs148594423	1:150,484,191	C/T	—	uncertain significance
rs775854728	1:150,484,194	A/C	—	uncertain significance
rs771623652	1:150,484,219	A/G	—	uncertain significance
rs1570885649	1:150,484,226	G/A	—	likely benign
rs139967544	1:150,484,257	T/A	—	uncertain significance
rs121909114	1:150,484,260	C/T	stop gained	pathogenic
rs149844916	1:150,484,273	G/A	—	uncertain significance
rs2526412851	1:150,484,275	C/T	—	likely pathogenic
rs55770822	1:150,484,317	C/T	—	likely benign
rs875514	1:150,484,555	G/C	—	benign
rs116708032	1:150,484,631	C/A	—	likely benign
rs202156901	1:150,484,838	C/A	—	uncertain significance
rs151102225	1:150,484,844	A/T	—	likely benign
rs587651183	1:150,484,858	C/T	—	benign
rs375957458	1:150,484,898	G/A	—	benign
rs2526415940	1:150,484,903	C/T	—	uncertain significance
rs775014504	1:150,484,964	G/A	—	uncertain significance
rs200585596	1:150,484,986	C/T	—	likely benign
rs13294	1:150,484,987	A/G	—	benign
rs762669789	1:150,484,990	C/T	—	pathogenic
rs78751287	1:150,485,176	C/T	—	benign
rs147907925	1:150,485,239	G/A	—	benign
rs771939130	1:150,485,268	G/T	—	uncertain significance
rs945715	1:150,485,531	T/C	—	benign
rs12031973	1:150,485,566	T/G	—	benign
rs12031974	1:150,485,571	T/C	—	benign
rs73019054	1:150,485,599	G/A	—	benign
rs1560267428	1:150,485,712	G/T	—	pathogenic
rs1337755791	1:150,485,723	T/G	—	uncertain significance
rs1468051324	1:150,485,737	T/C	—	uncertain significance
rs146864659	1:150,485,749	C/T	—	uncertain significance
rs146676314	1:150,485,832	G/A	—	likely benign
rs371056179	1:150,485,868	C/T	—	benign
rs2526420848	1:150,485,884	G/C	—	uncertain significance
rs374322071	1:150,485,920	A/G	—	uncertain significance
rs112603952	1:150,486,239	C/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.