Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5318
Gene name Gene Name - the full gene name approved by the HGNC.	Plakophilin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PKP2
Synonyms (NCBI Gene) Gene synonyms aliases	ARVD9
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs78897684	C>A,G	Pathogenic	Splice acceptor variant
rs111517471	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs121434420	G>A	Pathogenic	Coding sequence variant, stop gained
rs121434421	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs139139859	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs139734328	G>A,T	Uncertain-significance, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs139851304	T>C	Uncertain-significance, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs143397927	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs143900944	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs144601090	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs144620127	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, coding sequence variant
rs146102241	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs149930872	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, intron variant, coding sequence variant
rs150821281	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151212477	G>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, intron variant, coding sequence variant
rs193922672	C>T	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs193922673	C>A,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs193922674	C>G	Pathogenic	Splice acceptor variant
rs199571473	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs199601548	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200069860	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200586695	C>G,T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201405287	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs201944276	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs368656084	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372827156	G>A	Pathogenic	Stop gained, coding sequence variant
rs373399921	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs376231586	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs397516986	G>A	Pathogenic	Stop gained, coding sequence variant
rs397516987	A>T	Likely-pathogenic, pathogenic	Splice donor variant
rs397516988	TCAC>-	Likely-pathogenic, uncertain-significance	Splice donor variant, intron variant
rs397516989	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397516990	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs397516992	CCCCATTTA>AACTAAAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516993	GTTT>-	Likely-pathogenic	Stop gained, coding sequence variant
rs397516994	C>G	Likely-pathogenic, pathogenic	Splice donor variant
rs397516996	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs397516997	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397516999	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397517001	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs397517003	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs397517005	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517008	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517009	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs397517010	->A	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs397517012	G>A	Pathogenic	Stop gained, coding sequence variant
rs397517013	->CTTC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs397517015	C>A	Pathogenic	Stop gained, coding sequence variant
rs397517017	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs397517021	GGTGTG>C,G	Pathogenic	Frameshift variant, coding sequence variant
rs397517022	CAGGA>ACTG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517025	TGTA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517030	CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC>GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs551045165	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727504430	T>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs727504432	T>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs727504509	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs727504786	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880180	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs749926313	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs751288871	G>A	Pathogenic	Coding sequence variant, stop gained
rs754912778	G>A	Pathogenic	Stop gained, coding sequence variant
rs757922359	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs760576804	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs762288961	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs762753884	G>A	Pathogenic	Coding sequence variant, stop gained
rs763303290	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs763639737	A>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs764817683	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs766209297	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs767987619	G>T	Pathogenic	Coding sequence variant, stop gained
rs768286281	A>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs769220833	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs772220644	CG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs774663443	C>T	Pathogenic	Stop gained, coding sequence variant
rs775995156	GGGAT>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs779082302	C>A,T	Pathogenic	Splice acceptor variant
rs786204388	CTCA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs786204389	T>A	Likely-pathogenic, pathogenic	Splice acceptor variant
rs786204392	C>G,T	Pathogenic	Splice donor variant
rs786204395	GGTGTT>TTTC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205353	->C,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205476	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794729098	A>G	Pathogenic	Missense variant, coding sequence variant
rs794729099	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794729100	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794729104	A>T	Pathogenic	Stop gained, coding sequence variant
rs794729106	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs794729108	A>C	Pathogenic	Stop gained, coding sequence variant
rs794729109	T>A	Pathogenic	Stop gained, coding sequence variant
rs794729111	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794729116	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs794729117	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729118	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729119	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729120	->A	Pathogenic	Frameshift variant, coding sequence variant
rs794729121	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729122	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729123	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729124	TGAAAGTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729125	TCATTAGATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729126	G>-	Pathogenic	Stop gained, coding sequence variant
rs794729127	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729128	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729129	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729130	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794729132	G>A	Pathogenic	Stop gained, coding sequence variant
rs794729133	T>C	Pathogenic	Splice acceptor variant
rs794729135	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs794729137	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs869025496	C>A,G,T	Likely-pathogenic	Splice donor variant
rs876657659	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs878854710	GGGTGT>C	Pathogenic	Coding sequence variant, frameshift variant
rs878898365	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs886041322	G>A	Pathogenic	Coding sequence variant, stop gained
rs958681660	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057520597	T>A,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057520650	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057520726	C>G	Likely-pathogenic	Splice donor variant
rs1060501182	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060501184	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1060501186	G>A	Pathogenic	Missense variant, coding sequence variant
rs1060501188	T>G	Likely-pathogenic	Splice acceptor variant
rs1064792927	->CTCTCCTCCCGCTGGAATCCACG	Pathogenic	Frameshift variant, coding sequence variant
rs1064792929	GGA>TTTTGGCGAT	Pathogenic	Frameshift variant, coding sequence variant
rs1064793231	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793905	T>G	Pathogenic	Intron variant
rs1064794350	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796069	TCCAGTGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796241	CAG>AA	Pathogenic	Frameshift variant, coding sequence variant
rs1064796268	TTTAGCATGTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1318070848	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1332615728	C>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1353074803	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1373300155	ACTTCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1425855043	C>A	Pathogenic	Stop gained, coding sequence variant
rs1453983744	T>A,C	Pathogenic	Splice acceptor variant
rs1486464304	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555141020	C>T	Likely-pathogenic, uncertain-significance	Intron variant
rs1555142963	TCCTGCTTCGACTGCCAAAACAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555142971	->AATACTTTTGTTGTTGTCA	Likely-pathogenic	Stop gained, coding sequence variant
rs1555142984	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555142994	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555143134	->CATC	Pathogenic	Frameshift variant, coding sequence variant
rs1555143143	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1555144459	->A	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555144478	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555145509	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555145520	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555145521	GCTGCAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555147210	C>T	Likely-pathogenic	Splice acceptor variant
rs1555148011	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555148032	->CCTGGCCG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555148035	GCCT>AGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555148048	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555148090	->CGACAGTGAGCCCTGCC	Pathogenic	Frameshift variant, coding sequence variant
rs1555148259	CCAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555148271	->T	Pathogenic	Stop gained, coding sequence variant
rs1555149952	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555149975	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565574709	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565586921	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1565586958	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565590176	T>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1565590309	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1565599473	G>A	Pathogenic	Stop gained, coding sequence variant
rs1591828796	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592729525	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1592738654	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1592746270	A>G	Likely-pathogenic	Splice donor variant
rs1592758957	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(167)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025489	hsa-miR-34a-5p	Proteomics	21566225
MIRT046783	hsa-miR-222-3p	CLASH	23622248
MIRT044957	hsa-miR-186-5p	CLASH	23622248
MIRT037616	hsa-miR-744-5p	CLASH	23622248
MIRT1238069	hsa-miR-1255a	CLIP-seq
MIRT1238070	hsa-miR-1255b	CLIP-seq
MIRT1238071	hsa-miR-1287	CLIP-seq
MIRT1238072	hsa-miR-1290	CLIP-seq
MIRT1238073	hsa-miR-129-5p	CLIP-seq
MIRT1238074	hsa-miR-1299	CLIP-seq
MIRT1238075	hsa-miR-1301	CLIP-seq
MIRT1238076	hsa-miR-1305	CLIP-seq
MIRT1238077	hsa-miR-141	CLIP-seq
MIRT1238078	hsa-miR-1587	CLIP-seq
MIRT1238079	hsa-miR-181a	CLIP-seq
MIRT1238080	hsa-miR-181b	CLIP-seq
MIRT1238081	hsa-miR-181c	CLIP-seq
MIRT1238082	hsa-miR-181d	CLIP-seq
MIRT1238083	hsa-miR-200a	CLIP-seq
MIRT1238084	hsa-miR-2110	CLIP-seq
MIRT1238085	hsa-miR-219-1-3p	CLIP-seq
MIRT1238086	hsa-miR-2964a-5p	CLIP-seq
MIRT1238087	hsa-miR-298	CLIP-seq
MIRT1238088	hsa-miR-3064-5p	CLIP-seq
MIRT1238089	hsa-miR-3121-3p	CLIP-seq
MIRT1238090	hsa-miR-3121-5p	CLIP-seq
MIRT1238091	hsa-miR-3123	CLIP-seq
MIRT1238092	hsa-miR-3127-5p	CLIP-seq
MIRT1238093	hsa-miR-3144-5p	CLIP-seq
MIRT1238094	hsa-miR-3145-3p	CLIP-seq
MIRT1238095	hsa-miR-3150a-3p	CLIP-seq
MIRT1238096	hsa-miR-3158-5p	CLIP-seq
MIRT1238097	hsa-miR-3689a-5p	CLIP-seq
MIRT1238098	hsa-miR-3689b	CLIP-seq
MIRT1238099	hsa-miR-3689e	CLIP-seq
MIRT1238100	hsa-miR-3689f	CLIP-seq
MIRT1238101	hsa-miR-378g	CLIP-seq
MIRT1238102	hsa-miR-3925-5p	CLIP-seq
MIRT1238103	hsa-miR-3976	CLIP-seq
MIRT1238104	hsa-miR-421	CLIP-seq
MIRT1238105	hsa-miR-4260	CLIP-seq
MIRT1238106	hsa-miR-4262	CLIP-seq
MIRT1238107	hsa-miR-4282	CLIP-seq
MIRT1238108	hsa-miR-4320	CLIP-seq
MIRT1238109	hsa-miR-4328	CLIP-seq
MIRT1238110	hsa-miR-4418	CLIP-seq
MIRT1238111	hsa-miR-4450	CLIP-seq
MIRT1238112	hsa-miR-4492	CLIP-seq
MIRT1238113	hsa-miR-4498	CLIP-seq
MIRT1238114	hsa-miR-4505	CLIP-seq
MIRT1238115	hsa-miR-450b-5p	CLIP-seq
MIRT1238116	hsa-miR-4643	CLIP-seq
MIRT1238117	hsa-miR-4652-3p	CLIP-seq
MIRT1238118	hsa-miR-4656	CLIP-seq
MIRT1238119	hsa-miR-466	CLIP-seq
MIRT1238120	hsa-miR-4675	CLIP-seq
MIRT1238121	hsa-miR-4677-3p	CLIP-seq
MIRT1238122	hsa-miR-4679	CLIP-seq
MIRT1238123	hsa-miR-4694-3p	CLIP-seq
MIRT1238124	hsa-miR-4698	CLIP-seq
MIRT1238125	hsa-miR-4708-3p	CLIP-seq
MIRT1238126	hsa-miR-4741	CLIP-seq
MIRT1238127	hsa-miR-4778-5p	CLIP-seq
MIRT1238128	hsa-miR-4782-5p	CLIP-seq
MIRT1238129	hsa-miR-4789-3p	CLIP-seq
MIRT1238130	hsa-miR-5047	CLIP-seq
MIRT1238131	hsa-miR-505	CLIP-seq
MIRT1238132	hsa-miR-507	CLIP-seq
MIRT1238133	hsa-miR-509-3-5p	CLIP-seq
MIRT1238134	hsa-miR-509-5p	CLIP-seq
MIRT1238135	hsa-miR-516b	CLIP-seq
MIRT1238136	hsa-miR-522	CLIP-seq
MIRT1238137	hsa-miR-541	CLIP-seq
MIRT1238138	hsa-miR-557	CLIP-seq
MIRT1238139	hsa-miR-578	CLIP-seq
MIRT1238140	hsa-miR-582-5p	CLIP-seq
MIRT1238141	hsa-miR-639	CLIP-seq
MIRT1238142	hsa-miR-654-5p	CLIP-seq
MIRT1238143	hsa-miR-760	CLIP-seq
MIRT1238144	hsa-miR-762	CLIP-seq
MIRT2070078	hsa-miR-1193	CLIP-seq
MIRT2070079	hsa-miR-1251	CLIP-seq
MIRT1238074	hsa-miR-1299	CLIP-seq
MIRT2070080	hsa-miR-135a	CLIP-seq
MIRT2070081	hsa-miR-135b	CLIP-seq
MIRT2070082	hsa-miR-3074-3p	CLIP-seq
MIRT2070083	hsa-miR-3163	CLIP-seq
MIRT2070084	hsa-miR-3182	CLIP-seq
MIRT2070085	hsa-miR-3185	CLIP-seq
MIRT2070086	hsa-miR-412	CLIP-seq
MIRT1238104	hsa-miR-421	CLIP-seq
MIRT1238110	hsa-miR-4418	CLIP-seq
MIRT2070087	hsa-miR-4424	CLIP-seq
MIRT2070088	hsa-miR-4432	CLIP-seq
MIRT2070089	hsa-miR-4635	CLIP-seq
MIRT2070090	hsa-miR-4684-5p	CLIP-seq
MIRT2070091	hsa-miR-4709-3p	CLIP-seq
MIRT2070092	hsa-miR-4778-3p	CLIP-seq
MIRT1238128	hsa-miR-4782-5p	CLIP-seq
MIRT1238133	hsa-miR-509-3-5p	CLIP-seq
MIRT1238134	hsa-miR-509-5p	CLIP-seq
MIRT2070093	hsa-miR-514	CLIP-seq
MIRT2070094	hsa-miR-514b-3p	CLIP-seq
MIRT1238135	hsa-miR-516b	CLIP-seq
MIRT2070095	hsa-miR-518d-5p	CLIP-seq
MIRT2070096	hsa-miR-519b-5p	CLIP-seq
MIRT2070097	hsa-miR-519c-5p	CLIP-seq
MIRT2070098	hsa-miR-520c-5p	CLIP-seq
MIRT2070099	hsa-miR-526a	CLIP-seq
MIRT1238139	hsa-miR-578	CLIP-seq
MIRT2070100	hsa-miR-600	CLIP-seq
MIRT2070101	hsa-miR-617	CLIP-seq
MIRT2070102	hsa-miR-642b	CLIP-seq
MIRT2070103	hsa-miR-7	CLIP-seq
MIRT2070104	hsa-miR-875-3p	CLIP-seq
MIRT2297295	hsa-miR-1245b-5p	CLIP-seq
MIRT1238072	hsa-miR-1290	CLIP-seq
MIRT1238073	hsa-miR-129-5p	CLIP-seq
MIRT1238075	hsa-miR-1301	CLIP-seq
MIRT2297296	hsa-miR-2682	CLIP-seq
MIRT2070082	hsa-miR-3074-3p	CLIP-seq
MIRT2297297	hsa-miR-3142	CLIP-seq
MIRT2297298	hsa-miR-34a	CLIP-seq
MIRT2297299	hsa-miR-34c-5p	CLIP-seq
MIRT2297300	hsa-miR-3613-3p	CLIP-seq
MIRT2297301	hsa-miR-3677-5p	CLIP-seq
MIRT2297302	hsa-miR-3926	CLIP-seq
MIRT2070086	hsa-miR-412	CLIP-seq
MIRT1238104	hsa-miR-421	CLIP-seq
MIRT2297303	hsa-miR-4251	CLIP-seq
MIRT1238105	hsa-miR-4260	CLIP-seq
MIRT2297304	hsa-miR-4329	CLIP-seq
MIRT2297305	hsa-miR-4436b-3p	CLIP-seq
MIRT1238111	hsa-miR-4450	CLIP-seq
MIRT2297306	hsa-miR-4493	CLIP-seq
MIRT2297307	hsa-miR-449a	CLIP-seq
MIRT2297308	hsa-miR-449b	CLIP-seq
MIRT2297309	hsa-miR-449c	CLIP-seq
MIRT1238115	hsa-miR-450b-5p	CLIP-seq
MIRT2297310	hsa-miR-4514	CLIP-seq
MIRT2297311	hsa-miR-4645-5p	CLIP-seq
MIRT2297312	hsa-miR-4673	CLIP-seq
MIRT2297313	hsa-miR-4685-5p	CLIP-seq
MIRT2297314	hsa-miR-4692	CLIP-seq
MIRT2297315	hsa-miR-4755-3p	CLIP-seq
MIRT2070092	hsa-miR-4778-3p	CLIP-seq
MIRT1238128	hsa-miR-4782-5p	CLIP-seq
MIRT2297316	hsa-miR-4786-3p	CLIP-seq
MIRT1238130	hsa-miR-5047	CLIP-seq
MIRT1238132	hsa-miR-507	CLIP-seq
MIRT2297317	hsa-miR-548s	CLIP-seq
MIRT2297318	hsa-miR-554	CLIP-seq
MIRT1238138	hsa-miR-557	CLIP-seq
MIRT2070100	hsa-miR-600	CLIP-seq
MIRT2070101	hsa-miR-617	CLIP-seq
MIRT2297319	hsa-miR-622	CLIP-seq
MIRT2070102	hsa-miR-642b	CLIP-seq
MIRT2297320	hsa-miR-665	CLIP-seq
MIRT2297321	hsa-miR-671-5p	CLIP-seq
MIRT2594631	hsa-miR-1197	CLIP-seq
MIRT2594632	hsa-miR-3117-3p	CLIP-seq
MIRT2594633	hsa-miR-409-3p	CLIP-seq
MIRT2594634	hsa-miR-550b	CLIP-seq
MIRT2594631	hsa-miR-1197	CLIP-seq
MIRT2594632	hsa-miR-3117-3p	CLIP-seq
MIRT2594633	hsa-miR-409-3p	CLIP-seq
MIRT2594634	hsa-miR-550b	CLIP-seq

Show/Hide all(71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0002159	Process	Desmosome assembly	IMP	18474624
GO:0002934	Process	Desmosome organization	IBA
GO:0003677	Function	DNA binding	IDA	20613778
GO:0005080	Function	Protein kinase C binding	IPI	18474624
GO:0005515	Function	Protein binding	IPI	10852826, 11416169, 11790773, 12941695, 15778465, 25416956, 25910212, 28169297, 31515488, 32296183, 32353859, 33060197, 35271311, 36217030, 36931259
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11416169, 11790773, 20613778, 34368962
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	8922383
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	34368962
GO:0005737	Component	Cytoplasm	IEA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23863954, 30949721
GO:0005886	Component	Plasma membrane	TAS	8922383
GO:0005911	Component	Cell-cell junction	IDA	23884246
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0005911	Component	Cell-cell junction	TAS	8922383
GO:0005912	Component	Adherens junction	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007267	Process	Cell-cell signaling	IMP	22889254
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0010765	Process	Positive regulation of sodium ion transport	ISS
GO:0010810	Process	Regulation of cell-substrate adhesion	IMP	23884246
GO:0014704	Component	Intercalated disc	IBA
GO:0014704	Component	Intercalated disc	IDA	22781308
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	TAS	8922383
GO:0017080	Function	Sodium channel regulator activity	ISS
GO:0019215	Function	Intermediate filament binding	IDA	10852826
GO:0030054	Component	Cell junction	IDA
GO:0030057	Component	Desmosome	IDA	20613778, 20859650, 34368962
GO:0030057	Component	Desmosome	IEA
GO:0030057	Component	Desmosome	ISS
GO:0030057	Component	Desmosome	NAS	8922383
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0045110	Process	Intermediate filament bundle assembly	IBA
GO:0045110	Process	Intermediate filament bundle assembly	IMP	18474624
GO:0045294	Function	Alpha-catenin binding	IPI	23136403
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IBA
GO:0048496	Process	Maintenance of animal organ identity	IMP	22889254
GO:0051286	Component	Cell tip	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	22889254
GO:0060090	Function	Molecular adaptor activity	IMP	18474624
GO:0070161	Component	Anchoring junction	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IMP	23863954
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	22889254
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	22889254
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	ISS
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	22889254
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	22889254
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	17980246, 22889254
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	ISS
GO:0098609	Process	Cell-cell adhesion	NAS	8922383
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	22889254
GO:0099017	Process	Maintenance of protein localization at cell tip	IEA
GO:0099017	Process	Maintenance of protein localization at cell tip	ISS
GO:1900024	Process	Regulation of substrate adhesion-dependent cell spreading	IMP	23884246

MIM	HGNC	e!Ensembl
602861	9024	ENSG00000057294

Protein

UniProt ID

Q99959

Protein name

Plakophilin-2

Protein function

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25208567). Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, pote

PDB

3TT9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00514	Arm	384 → 424	Armadillo/beta-catenin-like repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed at intercalated disks in the heart (at protein level) (PubMed:18662195). Expressed in gingival epithelial, endothelial and fibroblast cells (at protein level) (PubMed:34368962). Faintly expressed in tracheal epithelial cells

Sequence

MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQV
QQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYE
GRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHH
QESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRT
LREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSML
EADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALR
NLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACN
PSTLGGQGGRITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPE
GDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPD
DKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQ
DVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSV
AQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPD
TVPSTDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAA
SVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD

Sequence length

881

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy		Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (7)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular dysplasia 9, Familial isolated arrhythmogenic right ventricular dysplasia	rs1318070848, rs1555142994, rs794729126, rs754912778, rs1555142984, rs1064792929, rs397516997, rs769220833, rs794729129, rs111517471, rs1956192035, rs727504432, rs1353074803, rs794729107, rs397516987 View all (85 more)	N/A
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	rs958681660, rs397517008, rs397516987, rs397517013, rs193922672, rs786204388, rs1555142994, rs794729126, rs754912778, rs397516997, rs1565574709, rs397517025, rs1555148032, rs397517009, rs869025496 View all (54 more)	N/A
cardiomyopathy	Cardiomyopathy	rs727504432, rs786204388, rs794729120, rs397516992, rs794729116, rs1064794350, rs1565590309, rs397517008, rs1555142963, rs769220833, rs1956192035, rs397516997, rs193922672, rs1555144459, rs397516993 View all (31 more)	N/A
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	rs1956121988	N/A
Long QT Syndrome	long qt syndrome 1	rs786204395	N/A
ventricular tachycardia	Ventricular tachycardia	rs397517025, rs727504432	N/A
cardiac arrhythmia	Cardiac arrhythmia	rs121434420, rs397516989, rs397516996	N/A

Show/Hide Unknown Diseases (13)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Becker Muscular Dystrophy	becker muscular dystrophy	N/A	N/A	ClinVar
Brugada Syndrome	brugada syndrome, Brugada syndrome 1	N/A	N/A	ClinVar, GenCC
Catecholaminergic Polymorphic Ventricular Tachycardia	catecholaminergic polymorphic ventricular tachycardia	N/A	N/A	GenCC
Conduction Disorder Of The Heart	conduction disorder of the heart	N/A	N/A	ClinVar
Dilated Cardiomyopathy	Dilated cardiomyopathy 3B, Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1S	N/A	N/A	ClinVar
Duchenne Muscular Dystrophy	duchenne muscular dystrophy	N/A	N/A	ClinVar
Left ventricular noncompaction	left ventricular noncompaction	N/A	N/A	ClinVar
Lung Cancer	Lung cancer	Here, we used an unbiased CRISPR/Cas9 library screen and identified plakophilin 2 (PKP2), a member of the ARM superfamily of proteins, as a critical driver of radiation resistance in lung cancer.	33742119	CBGDA
Myopathy	dilated cardiomyopathy	N/A	N/A	GenCC
Ventricular Fibrillation	ventricular fibrillation, Ventricular fibrillation, paroxysmal familial, type 1	N/A	N/A	ClinVar
Ventricular Noncompaction	Left ventricular noncompaction 1	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abrikosov's tumor	Inhibit	28323918
Adenocarcinoma	Associate	35109912
Adenocarcinoma of Lung	Associate	35403268
Arrhythmias Cardiac	Associate	22035158, 23651034, 30790397
Arrhythmogenic Right Ventricular Dysplasia	Associate	16415378, 16698823, 16799251, 17010805, 17033975, 17041889, 18596851, 19084810, 19358943, 19533476, 20031617, 20124997, 20152563, 21636032, 21822014 View all (64 more)
Arrhythmogenic Right Ventricular Dysplasia	Inhibit	26590176, 35628349
Arrhythmogenic Right Ventricular Dysplasia Familial 9	Associate	21908389, 39332132
Atrial Fibrillation	Associate	30061737, 31539150, 36669898
Atrioventricular Block	Associate	36352534
Brugada Syndrome	Associate	32443836
Bundle Branch Block	Associate	34491328
Cardiomyopathies	Associate	28359509, 29253866, 30061737, 30678776, 33260757, 34120153, 35627167, 37449562
Cardiomyopathy Dilated	Associate	31024045
Cardiomyopathy Right Ventricular Dilated	Associate	29288195, 32372669
Cardiovascular Abnormalities	Associate	36352534
Channelopathies	Associate	32443836
Colorectal Neoplasms	Associate	29044515
Death	Associate	29961461
Death Sudden	Associate	22019812, 29253866, 30678776
Death Sudden Cardiac	Associate	23651034, 30678776, 32397162
Early Onset Glaucoma	Associate	34281161
Ectrodactyly cardiopathy dysmorphism	Associate	35819174
Electric Injuries	Associate	37433034
Genetic Diseases Inborn	Associate	32397162
Heart Arrest	Associate	23514727
Heart Diseases	Associate	32397162, 37433034, 37607954, 37833253, 38382214, 40282378
Heart Failure	Associate	23514727, 28359509, 30790397, 37510372, 40406876
Inflammation	Associate	37607954
Leukemic Infiltration	Associate	37607954
Lymphatic Metastasis	Associate	30082491
Myopathies Structural Congenital	Associate	17010805
Neoplasms Adipose Tissue	Associate	37607954
Obesity	Associate	37607954
Polycythemia Vera	Associate	35819174
Polymorphic catecholergic ventricular tachycardia	Associate	30678776, 34557911
Short QT Syndrome 1	Associate	34281161
Stomach Neoplasms	Associate	21194493
Sudden Unexpected Death in Epilepsy	Associate	22019812
Tachycardia Ventricular	Associate	29961461, 34491328, 37851708
Teratoma	Associate	29034900
Ventricular Dysfunction	Associate	30790397
Ventricular Dysfunction Left	Associate	29288195, 29961461, 30790397
Ventricular Dysfunction Right	Associate	31319917
Weight Loss	Associate	37607954
X linked sideroblastic anemia	Associate	35627167

PKP2 (plakophilin 2)