CDH13

cadherin 13

Summary

This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]

Known Variants207 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6565051	16:82,658,728	G/A	upstream gene variant	—
rs7204454	16:82,659,194	G/C	regulatory region variant	—
rs12444338	16:82,660,155	G/T	upstream gene variant	benign
rs2507265106	16:82,660,709	A/G	—	likely benign
rs773242003	16:82,660,723	T/C	—	uncertain significance
rs757569853	16:82,660,750	A/G	—	likely benign
rs748312207	16:82,660,954	T/C	—	benign
rs4783244	16:82,662,268	G/T	regulatory region variant	—
rs12051272	16:82,663,288	G/T	regulatory region variant	—
rs139419280	16:82,664,833	G/A	intron variant	—
rs12922394	16:82,672,327	C/T	regulatory region variant	—
rs4782724	16:82,673,047	C/T	—	benign
rs150875489	16:82,673,069	A/G	—	benign
rs7194373	16:82,673,090	T/G	—	benign
rs2150920593	16:82,691,872	T/A	—	—
rs1174607704	16:82,691,886	T/A	—	—
rs8057927	16:82,692,812	T/C	intron variant	—
rs80124906	16:82,694,222	G/A	regulatory region variant	—
rs11646411	16:82,746,937	C/G	intron variant	—
rs6565060	16:82,750,051	A/G	intron variant	—
rs8056064	16:82,787,053	A/G	intron variant	—
rs184964877	16:82,793,111	T/C	intron variant	—
rs12386026	16:82,817,591	C/T	intron variant	—
rs66513368	16:82,833,448	A/G	intron variant	—
rs11644513	16:82,868,852	C/G	—	—
rs7206608	16:82,872,628	C/A	—	—
rs7196397	16:82,874,522	C/T	upstream gene variant	—
rs8044562	16:82,876,486	G/C	—	—
rs17740866	16:82,891,658	G/A	—	benign
rs17740895	16:82,891,896	G/A	—	benign
rs760899127	16:82,892,030	C/A	—	uncertain significance
rs72807847	16:82,892,037	A/G	—	benign
rs2507252958	16:82,892,072	C/G	—	uncertain significance
rs17675602	16:82,962,763	A/T	intron variant	—
rs72790163	16:82,986,981	A/T	coding sequence variant	—
rs35178368	16:83,065,369	G/C	—	benign
rs9888896	16:83,065,403	T/C	—	benign
rs7189859	16:83,065,491	G/C	—	benign
rs371659407	16:83,065,651	G/A	—	likely benign
rs374734713	16:83,065,663	C/G	—	uncertain significance
rs6565105	16:83,065,664	G/A	synonymous variant	benign
rs2507332665	16:83,065,690	A/T	—	uncertain significance
rs762117667	16:83,065,695	G/A	—	likely benign
rs1417908809	16:83,065,716	A/T	—	uncertain significance
rs893119452	16:83,065,723	C/T	—	uncertain significance
rs371079121	16:83,065,735	C/G	—	uncertain significance
rs369916041	16:83,065,753	G/A	—	uncertain significance
rs377383586	16:83,065,758	C/T	—	uncertain significance
rs200199969	16:83,065,791	G/A	—	likely benign
rs183971768	16:83,065,794	G/C	—	likely benign
rs7197352	16:83,065,819	T/C	—	uncertain significance
rs7197530	16:83,065,904	T/C	—	benign
rs2228685	16:83,065,965	A/T	—	benign
rs7500599	16:83,091,869	G/T	intron variant	—
rs6565113	16:83,107,646	G/C	—	—
rs72798388	16:83,158,878	A/G	—	benign
rs1166279974	16:83,158,991	A/G	—	uncertain significance
rs1164736342	16:83,159,083	C/T	—	uncertain significance
rs2035769938	16:83,159,099	T/C	—	uncertain significance
rs537777339	16:83,159,100	T/G	—	likely benign
rs79739619	16:83,159,155	T/C	—	benign
rs7196370	16:83,159,350	C/A	—	benign
rs8055236	16:83,212,398	G/A	—	—
rs16959745	16:83,233,913	A/C	—	—
rs4077621	16:83,250,824	A/C	—	benign
rs758971284	16:83,250,956	G/A	—	uncertain significance
rs201622114	16:83,250,987	G/A	—	uncertain significance
rs1319860693	16:83,251,053	G/T	—	uncertain significance
rs532575568	16:83,251,068	G/A	—	uncertain significance
rs776286280	16:83,251,100	C/G	—	uncertain significance
rs200102690	16:83,251,110	C/T	—	likely benign
rs4572385	16:83,251,210	G/A	—	benign
rs4077622	16:83,251,259	A/C	—	benign
rs11150556	16:83,270,541	T/C	intron variant	—
rs10514585	16:83,284,338	G/A	intron variant	—
rs1862830	16:83,303,147	A/G	intron variant	—
rs16960052	16:83,304,230	T/C	intron variant	—
rs145226582	16:83,312,493	C/T	intron variant	—
rs11644424	16:83,326,059	C/G	—	—
rs6563898	16:83,358,776	A/G	intron variant	—
rs9940464	16:83,360,775	T/G	—	—
rs200608482	16:83,378,467	C/G	—	uncertain significance
rs1478135152	16:83,378,478	G/T	—	uncertain significance
rs746970851	16:83,378,483	C/T	—	uncertain significance
rs145120824	16:83,378,487	T/C	—	benign
rs201452763	16:83,378,514	G/A	—	likely benign
rs367662792	16:83,378,589	C/T	—	likely benign
rs771613971	16:83,378,590	G/A	—	uncertain significance
rs2507390593	16:83,378,602	T/A	—	uncertain significance
rs189965190	16:83,378,615	T/A	—	likely benign
rs78600318	16:83,414,061	A/C	downstream gene variant	—
rs889714	16:83,419,543	C/A	—	—
rs11149566	16:83,442,229	A/G	intron variant	—
rs113521156	16:83,480,963	C/T	intron variant	—
rs17216786	16:83,487,471	C/A	intron variant	—
rs71402080	16:83,504,429	G/A	regulatory region variant	—
rs17686433	16:83,519,982	G/T	—	benign
rs2306907	16:83,520,078	G/A	—	benign
rs192298176	16:83,520,083	C/A	—	likely benign
rs1480218693	16:83,520,120	G/A	—	uncertain significance

Showing 100 of 207 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.