PKP4

plakophilin 4

Summary

Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

Known Variants465 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs55873205	2:159,311,576	C/A	—	—
rs1116969	2:159,312,164	G/C	upstream gene variant	—
rs62182660	2:159,313,863	A/C	—	—
rs1972608	2:159,314,312	C/T	regulatory region variant	—
rs7601197	2:159,333,024	C/T	intron variant	—
rs79077595	2:159,335,013	A/C	—	—
rs199958221	2:159,353,829	T/A	—	—
rs74834740	2:159,354,658	A/G	intron variant	—
rs6437184	2:159,354,852	C/A	—	—
rs80330591	2:159,368,720	G/A	intron variant	—
rs1121954	2:159,387,015	T/G	—	—
rs73966686	2:159,389,391	C/T	—	benign
rs201192196	2:159,389,716	C/A	—	uncertain significance
rs2529127487	2:159,389,720	A/G	—	likely benign
rs765187803	2:159,389,721	T/C	—	likely benign
rs2043730755	2:159,389,733	G/A	—	uncertain significance
rs199631736	2:159,389,749	G/T	—	uncertain significance
rs780810544	2:159,389,752	A/G	—	uncertain significance
rs35112233	2:159,389,762	T/C	—	likely benign
rs1302953656	2:159,389,767	C/G	—	uncertain significance
rs1302422396	2:159,389,778	A/C	—	uncertain significance
rs778332565	2:159,389,786	C/T	—	likely benign
rs780955276	2:159,389,787	G/A	—	uncertain significance
rs2529128161	2:159,389,789	G/C	—	uncertain significance
rs1256497203	2:159,389,826	C/A	—	uncertain significance
rs3771602	2:159,406,250	A/G	downstream gene variant	—
rs3755405	2:159,415,421	T/C	intron variant	—
rs72936958	2:159,416,960	A/G	regulatory region variant	—
rs4664976	2:159,419,176	T/C	intron variant	—
rs72936986	2:159,429,379	A/C	intron variant	—
rs6712810	2:159,433,668	A/G	—	benign
rs1414457215	2:159,433,786	C/T	—	uncertain significance
rs200264792	2:159,433,808	G/A	—	uncertain significance
rs1574578397	2:159,433,827	G/A	—	likely benign
rs2047940569	2:159,433,848	A/G	—	likely benign
rs763618650	2:159,433,852	A/G	—	uncertain significance
rs1199384324	2:159,433,854	A/G	—	likely benign
rs2047942153	2:159,433,857	T/C	—	likely benign
rs2529318472	2:159,433,871	A/G	—	uncertain significance
rs1485053142	2:159,433,876	C/T	—	uncertain significance
rs755276694	2:159,433,887	C/G	—	likely benign
rs4664980	2:159,439,911	C/T	intron variant	—
rs3771633	2:159,449,086	C/T	intron variant	—
rs4664983	2:159,454,438	T/C	intron variant	—
rs141436976	2:159,459,601	C/T	—	uncertain significance
rs16843067	2:159,459,805	T/G	—	benign
rs2051947	2:159,459,863	A/G	—	benign
rs10208720	2:159,466,014	T/A	—	—
rs7563270	2:159,473,856	A/T	—	—
rs182142957	2:159,477,503	C/T	—	likely benign
rs769498573	2:159,477,504	G/A	—	uncertain significance
rs148833140	2:159,477,532	G/C	—	uncertain significance
rs542322947	2:159,477,542	C/T	—	likely benign
rs776041637	2:159,477,543	G/A	—	likely benign
rs754046233	2:159,477,559	A/G	—	uncertain significance
rs374185784	2:159,477,562	A/G	—	uncertain significance
rs2052180265	2:159,477,572	G/A	—	likely benign
rs138891615	2:159,477,591	A/G	—	uncertain significance
rs1044193855	2:159,477,594	C/G	—	uncertain significance
rs938150867	2:159,477,605	A/G	—	likely benign
rs756820225	2:159,477,622	A/G	—	uncertain significance
rs191936477	2:159,477,634	G/T	—	benign
rs535359481	2:159,477,789	C/T	—	likely benign
rs763993742	2:159,477,790	G/A	—	uncertain significance
rs2529577315	2:159,477,792	C/A	—	uncertain significance
rs2529577491	2:159,477,806	A/G	—	uncertain significance
rs2529577699	2:159,477,830	A/G	—	uncertain significance
rs764802323	2:159,477,834	C/T	—	likely benign
rs750033852	2:159,477,835	G/A	—	uncertain significance
rs373725210	2:159,477,839	G/A	—	uncertain significance
rs2529578367	2:159,477,873	A/G	—	uncertain significance
rs759594992	2:159,477,891	T/C	—	likely benign
rs1178832410	2:159,477,894	G/A	—	likely benign
rs2529579013	2:159,477,914	A/C	—	uncertain significance
rs2529579039	2:159,477,917	G/T	—	uncertain significance
rs182987177	2:159,481,434	A/T	—	likely benign
rs149362186	2:159,481,462	A/G	—	uncertain significance
rs891563165	2:159,481,463	T/G	—	uncertain significance
rs377445134	2:159,481,487	G/T	—	uncertain significance
rs774340262	2:159,481,491	G/A	—	likely benign
rs1330119055	2:159,481,496	T/C	—	uncertain significance
rs2529601527	2:159,481,499	G/A	—	uncertain significance
rs745634642	2:159,481,506	T/C	—	likely benign
rs1254876115	2:159,481,525	T/C	—	uncertain significance
rs765708724	2:159,481,529	C/T	—	uncertain significance
rs79534754	2:159,481,530	G/A	—	likely benign
rs151336429	2:159,481,539	C/T	—	likely benign
rs751683792	2:159,481,542	C/A	—	uncertain significance
rs755121004	2:159,481,544	C/T	—	uncertain significance
rs2529602597	2:159,481,590	T/C	—	likely benign
rs771702885	2:159,481,592	C/A	—	uncertain significance
rs761297750	2:159,481,608	G/A	—	likely benign
rs1306506909	2:159,481,623	C/T	—	likely benign
rs138802591	2:159,481,624	G/A	—	uncertain significance
rs550760431	2:159,481,642	C/T	—	uncertain significance
rs143599522	2:159,481,643	G/A	—	uncertain significance
rs985757313	2:159,481,644	G/A	—	likely benign
rs375313238	2:159,481,661	C/T	—	uncertain significance
rs771451922	2:159,481,666	C/T	—	uncertain significance
rs2052644264	2:159,481,671	G/A	—	likely benign

Showing 100 of 465 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.