CDH7

cadherin 7

Summary

This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]

Known Variants85 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10460126	18:63,415,698	T/A	—	—
rs874767	18:63,417,021	C/A	upstream gene variant	—
rs7236903	18:63,418,098	C/A	—	—
rs7243232	18:63,428,152	C/A	—	—
rs7244243	18:63,429,906	C/A	—	benign
rs114985920	18:63,430,084	G/A	—	benign
rs61741929	18:63,430,129	T/A	—	benign
rs7229292	18:63,430,162	A/G	—	benign
rs2276190	18:63,430,340	G/A	—	benign
rs2276191	18:63,430,344	T/G	—	benign
rs12456905	18:63,430,493	A/G	—	benign
rs200638479	18:63,445,912	G/T	—	—
rs8092156	18:63,456,733	A/T	—	—
rs35419009	18:63,458,281	G/T	intron variant	—
rs11151216	18:63,476,810	C/T	—	benign
rs61741837	18:63,476,993	C/T	—	benign
rs2511736300	18:63,477,007	C/G	—	uncertain significance
rs17075228	18:63,477,107	T/C	—	benign
rs559492578	18:63,477,126	G/A	—	uncertain significance
rs146356739	18:63,477,204	A/G	—	uncertain significance
rs17075229	18:63,477,206	A/G	—	benign
rs7235166	18:63,477,218	C/G	—	benign
rs7228436	18:63,481,414	A/T	—	benign
rs17075245	18:63,481,815	G/A	—	benign
rs66550127	18:63,489,014	A/G	—	benign
rs4941359	18:63,489,159	C/A	—	benign
rs28722899	18:63,489,243	C/T	—	benign
rs2511749324	18:63,489,376	G/A	—	uncertain significance
rs8097752	18:63,489,378	C/T	—	benign
rs9955096	18:63,489,661	G/A	—	benign
rs974080	18:63,491,797	A/G	—	benign
rs762525110	18:63,491,886	A/G	—	uncertain significance
rs373549208	18:63,491,892	A/G	—	uncertain significance
rs148111579	18:63,491,925	T/C	—	uncertain significance
rs956014304	18:63,491,973	A/T	—	uncertain significance
rs922508063	18:63,492,018	A/G	—	uncertain significance
rs772673849	18:63,492,039	C/A	—	uncertain significance
rs6566180	18:63,492,199	A/G	—	benign
rs72944032	18:63,501,972	G/A	intron variant	—
rs9950051	18:63,510,820	G/A	—	benign
rs1239000535	18:63,511,079	C/T	—	uncertain significance
rs142208974	18:63,511,148	C/T	—	uncertain significance
rs572347984	18:63,511,150	A/G	—	uncertain significance
rs760274593	18:63,511,166	T/C	—	uncertain significance
rs765879927	18:63,511,174	G/A	—	uncertain significance
rs2306675	18:63,511,176	C/T	—	benign
rs2511772266	18:63,511,213	C/G	—	uncertain significance
rs150034539	18:63,511,227	G/A	—	likely benign
rs548755121	18:63,511,283	C/A	—	uncertain significance
rs72944064	18:63,516,255	T/A	—	—
rs2587423	18:63,525,500	G/A	—	benign
rs77348574	18:63,525,935	C/T	—	benign
rs72944078	18:63,526,644	A/G	—	benign
rs371954670	18:63,526,939	C/G	—	likely benign
rs151009583	18:63,527,055	A/T	—	uncertain significance
rs8091515	18:63,527,083	C/T	—	benign
rs8091386	18:63,527,085	A/T	—	benign
rs17075315	18:63,527,142	T/C	—	benign
rs2628252	18:63,527,249	T/A	—	benign
rs12966354	18:63,527,357	A/G	—	benign
rs1466327134	18:63,529,920	T/G	—	uncertain significance
rs140905426	18:63,529,929	G/C	—	uncertain significance
rs948180322	18:63,529,934	G/A	—	uncertain significance
rs533419487	18:63,529,940	C/T	—	uncertain significance
rs113114953	18:63,529,958	G/A	—	benign
rs114816705	18:63,529,973	A/G	—	uncertain significance
rs141284865	18:63,529,983	T/G	—	uncertain significance
rs1340780226	18:63,529,995	C/A	—	uncertain significance
rs2291343	18:63,530,016	A/G	—	benign
rs201853143	18:63,530,021	C/G	—	uncertain significance
rs17711596	18:63,530,140	T/C	—	benign
rs754853947	18:63,530,141	T/G	—	uncertain significance
rs2587405	18:63,530,378	A/G	—	benign
rs2587410	18:63,536,017	C/G	—	—
rs762166617	18:63,547,658	C/G	—	uncertain significance
rs1206438992	18:63,547,672	A/G	—	uncertain significance
rs766349874	18:63,547,676	A/G	—	uncertain significance
rs1167388362	18:63,547,690	T/C	—	uncertain significance
rs183960485	18:63,547,695	C/A	—	uncertain significance
rs140943119	18:63,547,774	A/G	—	uncertain significance
rs200742247	18:63,547,787	G/A	—	uncertain significance
rs763773954	18:63,547,798	G/A	—	uncertain significance
rs1352727363	18:63,547,886	T/C	—	uncertain significance
rs147379460	18:63,548,028	C/G	—	uncertain significance
rs2511808784	18:63,548,092	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.