CDH4

cadherin 4

Summary

This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

Known Variants128 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2084067798	20:59,827,630	A/G	—	uncertain significance
rs773329458	20:59,829,893	G/T	—	uncertain significance
rs762993449	20:59,829,901	C/T	—	uncertain significance
rs149390633	20:59,829,904	C/T	—	likely benign
rs267606034	20:59,829,913	C/A	—	uncertain significance
rs144744391	20:59,829,921	G/A	—	benign
rs148680733	20:59,829,940	A/G	—	uncertain significance
rs369415715	20:59,829,946	C/T	—	uncertain significance
rs6028084	20:59,838,105	C/A	—	—
rs35400171	20:59,849,114	T/C	—	—
rs1970546	20:59,853,938	A/G	intron variant	—
rs189587536	20:59,864,043	T/A	intron variant	—
rs6101322	20:59,917,093	A/G	intron variant	—
rs4468878	20:59,928,237	T/C	intron variant	—
rs4925189	20:59,947,044	G/A	intron variant	—
rs2085614485	20:60,064,613	C/T	—	uncertain significance
rs549272296	20:60,074,538	C/T	—	likely benign
rs560532547	20:60,074,545	G/T	—	likely benign
rs116896199	20:60,106,873	A/G	regulatory region variant	—
rs184256592	20:60,112,362	A/G	intron variant	—
rs2024714	20:60,212,494	C/T	intron variant	—
rs141847690	20:60,234,811	G/C	intron variant	—
rs944260	20:60,243,411	G/A	intron variant	—
rs16985437	20:60,258,851	G/A	regulatory region variant	—
rs550191976	20:60,286,141	A/G	—	—
rs16985493	20:60,293,563	G/T	—	—
rs767592477	20:60,318,734	C/T	—	likely benign
rs368305378	20:60,318,780	G/A	—	uncertain significance
rs772958577	20:60,318,792	G/A	—	uncertain significance
rs760527005	20:60,318,795	G/A	—	likely benign
rs373320390	20:60,318,802	G/A	—	uncertain significance
rs1412823646	20:60,318,825	T/A	—	uncertain significance
rs187067332	20:60,348,078	T/A	—	uncertain significance
rs2088794217	20:60,348,081	T/G	—	uncertain significance
rs2516608687	20:60,348,092	C/G	—	uncertain significance
rs752039301	20:60,348,114	C/T	—	uncertain significance
rs767954523	20:60,348,129	C/G	—	uncertain significance
rs4925295	20:60,381,799	G/A	intron variant	—
rs567022284	20:60,427,857	C/T	—	likely benign
rs759495651	20:60,427,876	G/A	—	uncertain significance
rs139703524	20:60,427,926	C/T	—	likely benign
rs759647875	20:60,427,927	G/A	—	uncertain significance
rs1463730085	20:60,448,799	C/A	—	uncertain significance
rs2516801731	20:60,448,804	A/G	—	uncertain significance
rs764336317	20:60,448,805	C/T	—	uncertain significance
rs2516801917	20:60,448,862	T/C	—	uncertain significance
rs78133836	20:60,448,938	G/A	—	likely benign
rs778071640	20:60,469,997	C/G	—	uncertain significance
rs149375024	20:60,470,057	C/T	—	uncertain significance
rs138274161	20:60,470,068	G/A	—	likely benign
rs1224937402	20:60,470,081	C/T	—	uncertain significance
rs373483932	20:60,470,102	C/T	—	uncertain significance
rs113714586	20:60,470,110	C/A	—	likely benign
rs2427238	20:60,480,767	G/T	intron variant	—
rs199603882	20:60,485,469	A/G	—	likely benign
rs368553704	20:60,485,502	C/T	—	uncertain significance
rs568480999	20:60,485,504	C/T	—	likely benign
rs2516870327	20:60,485,524	A/G	—	uncertain significance
rs1200506111	20:60,485,530	C/T	—	uncertain significance
rs141026097	20:60,485,531	G/A	—	benign
rs751782763	20:60,485,542	G/A	—	conflicting classifications of pathogenicity
rs2054839007	20:60,485,583	A/G	—	uncertain significance
rs572974573	20:60,485,616	G/A	—	likely benign
rs776562699	20:60,485,619	C/T	—	uncertain significance
rs78259850	20:60,485,639	C/T	—	likely benign
rs139577432	20:60,485,640	G/A	—	uncertain significance
rs1161226939	20:60,498,519	A/G	—	uncertain significance
rs1322569322	20:60,498,564	A/G	—	uncertain significance
rs763582219	20:60,498,567	C/T	—	uncertain significance
rs371245202	20:60,498,607	G/A	—	likely benign
rs142900721	20:60,498,701	G/A	—	uncertain significance
rs770187642	20:60,498,717	C/T	—	uncertain significance
rs191480722	20:60,499,384	C/T	—	benign
rs949928127	20:60,499,399	A/G	—	uncertain significance
rs372808555	20:60,499,416	G/A	—	benign
rs371761388	20:60,499,436	C/T	—	uncertain significance
rs202190196	20:60,499,457	C/T	—	uncertain significance
rs747641695	20:60,499,501	G/A	—	uncertain significance
rs373659261	20:60,499,510	G/T	—	uncertain significance
rs767997015	20:60,503,258	G/A	—	likely benign
rs1468863780	20:60,503,263	G/C	—	uncertain significance
rs951281332	20:60,503,311	C/T	—	uncertain significance
rs1356015712	20:60,503,328	A/G	—	uncertain significance
rs1302417277	20:60,503,330	G/C	—	uncertain significance
rs6142884	20:60,503,350	G/A	—	benign
rs1485834330	20:60,503,352	C/A	—	uncertain significance
rs768531649	20:60,503,380	C/T	—	uncertain significance
rs148280160	20:60,503,418	G/A	—	uncertain significance
rs142995081	20:60,503,441	G/A	—	benign
rs150782695	20:60,503,443	C/A	—	uncertain significance
rs777193983	20:60,503,451	C/T	—	uncertain significance
rs765815715	20:60,503,452	G/C	missense variant	pathogenic
rs751203963	20:60,503,472	C/T	—	uncertain significance
rs75866194	20:60,503,477	G/C	—	benign
rs773808564	20:60,504,685	G/A	—	uncertain significance
rs139822630	20:60,504,722	C/T	—	likely benign
rs1173803901	20:60,504,727	C/G	—	uncertain significance
rs6061902	20:60,504,734	C/T	—	benign
rs145396679	20:60,504,735	G/A	—	uncertain significance
rs2516905719	20:60,504,811	G/A	—	uncertain significance

Showing 100 of 128 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.