CTNND2

catenin delta 2

Summary

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

Known Variants229 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs373365622	5:10,973,563	C/T	—	likely benign
rs2546315201	5:10,973,579	C/T	—	uncertain significance
rs377570490	5:10,973,580	G/A	—	likely benign
rs1415623327	5:10,973,590	G/A	—	uncertain significance
rs755024571	5:10,973,609	A/G	—	uncertain significance
rs1566622	5:10,973,727	G/A	—	benign
rs148459685	5:10,973,781	G/A	—	likely benign
rs2546316574	5:10,973,800	T/A	—	uncertain significance
rs575945715	5:10,973,831	C/T	—	benign
rs1566623	5:10,973,833	G/A	—	likely benign
rs1566624	5:10,973,927	C/T	—	benign
rs61752747	5:10,974,015	G/A	—	benign
rs1566625	5:10,974,140	C/T	—	likely benign
rs61752746	5:10,974,154	G/A	—	benign
rs61752671	5:10,981,593	G/A	—	benign
rs13161964	5:10,981,631	T/C	—	benign
rs13161979	5:10,981,651	T/C	—	benign
rs58618024	5:10,981,720	G/C	—	benign
rs61752668	5:10,981,771	G/C	—	benign
rs147220528	5:10,981,907	G/C	—	likely benign
rs753111084	5:10,981,908	C/T	—	likely benign
rs2228958	5:10,981,921	A/T	—	benign
rs201402185	5:10,981,934	A/G	—	uncertain significance
rs2546338999	5:10,981,952	T/C	—	uncertain significance
rs61752667	5:10,981,969	A/G	—	benign
rs138241947	5:10,988,137	C/T	—	likely benign
rs879353	5:10,988,172	T/C	—	benign
rs751623383	5:10,988,215	G/A	—	likely benign
rs201041399	5:10,988,218	C/T	—	likely benign
rs144660891	5:10,988,256	C/T	—	likely benign
rs1738243810	5:10,988,261	G/A	—	uncertain significance
rs778985488	5:10,988,295	C/T	—	uncertain significance
rs773455686	5:10,988,334	G/A	—	uncertain significance
rs1478476134	5:10,988,363	A/G	—	likely benign
rs61751752	5:10,988,574	T/C	—	benign
rs4702779	5:10,988,683	G/C	—	benign
rs371262927	5:10,992,745	G/A	—	likely benign
rs1561136548	5:10,992,782	C/T	—	likely pathogenic
rs4701903	5:10,992,983	G/C	—	benign
rs2302179	5:11,017,952	G/A	—	benign
rs61751680	5:11,018,070	G/A	—	benign
rs2546415355	5:11,018,124	T/G	—	uncertain significance
rs768990616	5:11,018,142	A/T	—	likely benign
rs762883023	5:11,018,163	G/T	—	uncertain significance
rs73044290	5:11,018,387	G/A	—	benign
rs188376316	5:11,022,844	T/C	—	benign
rs61751665	5:11,022,845	A/G	—	benign
rs775381699	5:11,022,928	G/A	—	likely benign
rs770835265	5:11,022,949	G/A	—	likely benign
rs764796131	5:11,022,976	G/A	—	likely benign
rs781743390	5:11,022,993	C/T	—	uncertain significance
rs1015624	5:11,082,525	A/T	—	benign
rs11749459	5:11,082,612	A/G	—	benign
rs2277053	5:11,082,762	T/C	—	benign
rs61737893	5:11,082,851	C/T	—	benign
rs114692065	5:11,082,863	C/T	—	likely benign
rs905302639	5:11,082,873	A/G	—	uncertain significance
rs760357729	5:11,082,907	G/A	—	uncertain significance
rs886041494	5:11,082,943	G/A	stop gained	pathogenic
rs61757064	5:11,083,036	G/A	—	likely benign
rs2907104	5:11,083,281	A/G	—	benign
rs11744876	5:11,084,712	G/A	intron variant	—
rs56984210	5:11,098,561	T/C	—	benign
rs61755691	5:11,098,562	T/A	—	likely benign
rs2973509	5:11,098,569	T/C	—	benign
rs202045423	5:11,098,646	A/G	—	likely benign
rs745306937	5:11,098,719	C/T	—	uncertain significance
rs1365326984	5:11,098,861	C/A	—	uncertain significance
rs61755690	5:11,098,865	C/T	—	benign
rs147411853	5:11,098,866	G/A	—	benign
rs2301851	5:11,098,987	C/T	—	benign
rs61755689	5:11,099,074	G/A	—	likely benign
rs61755688	5:11,099,166	G/A	—	likely benign
rs61754601	5:11,110,711	T/C	—	likely benign
rs115886472	5:11,110,951	G/T	—	likely benign
rs1752894578	5:11,111,004	C/A	—	uncertain significance
rs1228655718	5:11,111,029	C/T	—	uncertain significance
rs377601281	5:11,111,030	C/T	—	likely benign
rs200147870	5:11,111,106	G/A	—	likely benign
rs148199852	5:11,111,117	C/T	—	likely benign
rs17183619	5:11,111,253	T/G	—	benign
rs61754597	5:11,111,344	C/T	—	benign
rs6884431	5:11,111,771	A/T	—	—
rs61753321	5:11,117,298	C/T	—	benign
rs2285977	5:11,117,339	T/C	—	benign
rs2285976	5:11,117,384	A/T	—	benign
rs2285975	5:11,117,583	C/T	—	benign
rs1753674972	5:11,117,598	G/C	—	uncertain significance
rs367616442	5:11,117,664	G/A	—	likely benign
rs1239711067	5:11,117,687	G/T	—	uncertain significance
rs111573890	5:11,117,693	G/C	—	benign
rs141312646	5:11,117,704	C/T	—	benign
rs61753303	5:11,159,521	T/C	—	benign
rs1990003	5:11,159,657	C/T	—	benign
rs779779196	5:11,159,705	G/A	—	likely benign
rs768575356	5:11,159,710	G/A	—	uncertain significance
rs2546712440	5:11,159,721	G/A	—	uncertain significance
rs377076686	5:11,159,748	T/C	—	uncertain significance
rs1028155744	5:11,159,760	G/A	—	uncertain significance
rs149766664	5:11,159,846	G/A	—	benign

Showing 100 of 229 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.