JUP (junction plakoglobin)

Gene

• Entrez ID: 3728
• Gene name: Junction plakoglobin
• Gene symbol: JUP
• Synonyms (NCBI Gene): CTNNG, DP3, DPIII, PDGB, PG, PKGB
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994176	CTG>-,CTGCTG	Pathogenic, uncertain-significance	Inframe insertion, coding sequence variant, inframe deletion
rs113994177	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs193922705	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign-likely-benign, benign	Intron variant
rs199826380	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200740462	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs373761090	C>T	Likely-pathogenic	Splice donor variant
rs555499592	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781900856	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs782058451	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs782392706	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs782440692	C>T	Pathogenic	Missense variant, coding sequence variant
rs782460555	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs782702266	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794729052	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs797046139	G>A	Pathogenic	Coding sequence variant, stop gained
rs886037753	C>A,T	Pathogenic	Coding sequence variant, synonymous variant
rs897549158	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1555606936	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597781765	C>T	Likely-pathogenic	Splice donor variant
rs1597782553	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597801392	GCTTCACG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016884	hsa-miR-335-5p	Microarray	18185580
MIRT020514	hsa-miR-155-5p	Proteomics	18668040
MIRT022247	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023549	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT028441	hsa-miR-30a-5p	Proteomics	18668040
MIRT047927	hsa-miR-30c-5p	CLASH	23622248
MIRT039967	hsa-miR-615-3p	CLASH	23622248
MIRT1078279	hsa-miR-103a	CLIP-seq
MIRT1078280	hsa-miR-107	CLIP-seq
MIRT1078281	hsa-miR-1207-3p	CLIP-seq
MIRT1078282	hsa-miR-1252	CLIP-seq
MIRT1078283	hsa-miR-1275	CLIP-seq
MIRT1078284	hsa-miR-127-5p	CLIP-seq
MIRT1078285	hsa-miR-1291	CLIP-seq
MIRT1078286	hsa-miR-1293	CLIP-seq
MIRT1078287	hsa-miR-129-3p	CLIP-seq
MIRT1078288	hsa-miR-1296	CLIP-seq
MIRT1078289	hsa-miR-1302	CLIP-seq
MIRT1078290	hsa-miR-1321	CLIP-seq
MIRT1078291	hsa-miR-147	CLIP-seq
MIRT1078292	hsa-miR-1908	CLIP-seq
MIRT1078293	hsa-miR-1912	CLIP-seq
MIRT1078294	hsa-miR-193a-5p	CLIP-seq
MIRT1078295	hsa-miR-197	CLIP-seq
MIRT1078296	hsa-miR-1972	CLIP-seq
MIRT1078297	hsa-miR-214	CLIP-seq
MIRT1078298	hsa-miR-2909	CLIP-seq
MIRT1078299	hsa-miR-296-5p	CLIP-seq
MIRT1078300	hsa-miR-3135b	CLIP-seq
MIRT1078301	hsa-miR-3150a-3p	CLIP-seq
MIRT1078302	hsa-miR-3157-5p	CLIP-seq
MIRT1078303	hsa-miR-3175	CLIP-seq
MIRT1078304	hsa-miR-3180	CLIP-seq
MIRT1078305	hsa-miR-3180-3p	CLIP-seq
MIRT1078306	hsa-miR-3184	CLIP-seq
MIRT1078307	hsa-miR-3196	CLIP-seq
MIRT1078308	hsa-miR-3197	CLIP-seq
MIRT1078309	hsa-miR-329	CLIP-seq
MIRT1078310	hsa-miR-335	CLIP-seq
MIRT1078311	hsa-miR-3591-5p	CLIP-seq
MIRT1078312	hsa-miR-3612	CLIP-seq
MIRT1078313	hsa-miR-3619-5p	CLIP-seq
MIRT1078314	hsa-miR-362-3p	CLIP-seq
MIRT1078315	hsa-miR-3652	CLIP-seq
MIRT1078316	hsa-miR-3667-5p	CLIP-seq
MIRT1078317	hsa-miR-3677-5p	CLIP-seq
MIRT1078318	hsa-miR-3689d	CLIP-seq
MIRT1078319	hsa-miR-3690	CLIP-seq
MIRT1078320	hsa-miR-3911	CLIP-seq
MIRT1078321	hsa-miR-3914	CLIP-seq
MIRT1078322	hsa-miR-3918	CLIP-seq
MIRT1078323	hsa-miR-3919	CLIP-seq
MIRT1078324	hsa-miR-3944-5p	CLIP-seq
MIRT1078325	hsa-miR-423-5p	CLIP-seq
MIRT1078326	hsa-miR-4254	CLIP-seq
MIRT1078327	hsa-miR-4270	CLIP-seq
MIRT1078328	hsa-miR-4292	CLIP-seq
MIRT1078329	hsa-miR-4298	CLIP-seq
MIRT1078330	hsa-miR-4308	CLIP-seq
MIRT1078331	hsa-miR-4430	CLIP-seq
MIRT1078332	hsa-miR-4435	CLIP-seq
MIRT1078333	hsa-miR-4436a	CLIP-seq
MIRT1078334	hsa-miR-4436b-3p	CLIP-seq
MIRT1078335	hsa-miR-4441	CLIP-seq
MIRT1078336	hsa-miR-4443	CLIP-seq
MIRT1078337	hsa-miR-4455	CLIP-seq
MIRT1078338	hsa-miR-4460	CLIP-seq
MIRT1078339	hsa-miR-4464	CLIP-seq
MIRT1078340	hsa-miR-4468	CLIP-seq
MIRT1078341	hsa-miR-4483	CLIP-seq
MIRT1078342	hsa-miR-4488	CLIP-seq
MIRT1078343	hsa-miR-4497	CLIP-seq
MIRT1078344	hsa-miR-4514	CLIP-seq
MIRT1078345	hsa-miR-4525	CLIP-seq
MIRT1078346	hsa-miR-4645-5p	CLIP-seq
MIRT1078347	hsa-miR-4648	CLIP-seq
MIRT1078348	hsa-miR-4650-5p	CLIP-seq
MIRT1078349	hsa-miR-4651	CLIP-seq
MIRT1078350	hsa-miR-4665-5p	CLIP-seq
MIRT1078351	hsa-miR-4667-5p	CLIP-seq
MIRT1078352	hsa-miR-4668-5p	CLIP-seq
MIRT1078353	hsa-miR-4673	CLIP-seq
MIRT1078354	hsa-miR-4685-5p	CLIP-seq
MIRT1078355	hsa-miR-4691-3p	CLIP-seq
MIRT1078356	hsa-miR-4692	CLIP-seq
MIRT1078357	hsa-miR-4697-5p	CLIP-seq
MIRT1078358	hsa-miR-4700-5p	CLIP-seq
MIRT1078359	hsa-miR-4706	CLIP-seq
MIRT1078360	hsa-miR-4722-5p	CLIP-seq
MIRT1078361	hsa-miR-4723-5p	CLIP-seq
MIRT1078362	hsa-miR-4727-3p	CLIP-seq
MIRT1078363	hsa-miR-4728-5p	CLIP-seq
MIRT1078364	hsa-miR-4731-5p	CLIP-seq
MIRT1078365	hsa-miR-4733-5p	CLIP-seq
MIRT1078366	hsa-miR-4739	CLIP-seq
MIRT1078367	hsa-miR-4748	CLIP-seq
MIRT1078368	hsa-miR-4749-5p	CLIP-seq
MIRT1078369	hsa-miR-4751	CLIP-seq
MIRT1078370	hsa-miR-4756-5p	CLIP-seq
MIRT1078371	hsa-miR-4761-3p	CLIP-seq
MIRT1078372	hsa-miR-485-5p	CLIP-seq
MIRT1078373	hsa-miR-490-3p	CLIP-seq
MIRT1078374	hsa-miR-516b	CLIP-seq
MIRT1078375	hsa-miR-541	CLIP-seq
MIRT1078376	hsa-miR-570	CLIP-seq
MIRT1078377	hsa-miR-608	CLIP-seq
MIRT1078378	hsa-miR-625	CLIP-seq
MIRT1078379	hsa-miR-627	CLIP-seq
MIRT1078380	hsa-miR-637	CLIP-seq
MIRT1078381	hsa-miR-644	CLIP-seq
MIRT1078382	hsa-miR-650	CLIP-seq
MIRT1078383	hsa-miR-654-5p	CLIP-seq
MIRT1078384	hsa-miR-663	CLIP-seq
MIRT1078385	hsa-miR-711	CLIP-seq
MIRT1078386	hsa-miR-761	CLIP-seq
MIRT1078387	hsa-miR-924	CLIP-seq
MIRT1078388	hsa-miR-939	CLIP-seq
MIRT1550384	hsa-miR-1299	CLIP-seq
MIRT1550385	hsa-miR-3182	CLIP-seq
MIRT1550386	hsa-miR-320e	CLIP-seq
MIRT1550387	hsa-miR-4642	CLIP-seq
MIRT1550388	hsa-miR-4720-5p	CLIP-seq
MIRT1550389	hsa-miR-4782-5p	CLIP-seq
MIRT1550390	hsa-miR-4799-3p	CLIP-seq
MIRT1078374	hsa-miR-516b	CLIP-seq
MIRT1078279	hsa-miR-103a	CLIP-seq
MIRT1078280	hsa-miR-107	CLIP-seq
MIRT1078281	hsa-miR-1207-3p	CLIP-seq
MIRT1078282	hsa-miR-1252	CLIP-seq
MIRT2019506	hsa-miR-125a-3p	CLIP-seq
MIRT1078283	hsa-miR-1275	CLIP-seq
MIRT1078285	hsa-miR-1291	CLIP-seq
MIRT1078286	hsa-miR-1293	CLIP-seq
MIRT2019507	hsa-miR-1294	CLIP-seq
MIRT1078288	hsa-miR-1296	CLIP-seq
MIRT1550384	hsa-miR-1299	CLIP-seq
MIRT1078289	hsa-miR-1302	CLIP-seq
MIRT1078290	hsa-miR-1321	CLIP-seq
MIRT1078291	hsa-miR-147	CLIP-seq
MIRT1078293	hsa-miR-1912	CLIP-seq
MIRT1078297	hsa-miR-214	CLIP-seq
MIRT2019508	hsa-miR-2355-5p	CLIP-seq
MIRT1078298	hsa-miR-2909	CLIP-seq
MIRT1078299	hsa-miR-296-5p	CLIP-seq
MIRT1078300	hsa-miR-3135b	CLIP-seq
MIRT1078302	hsa-miR-3157-5p	CLIP-seq
MIRT1550385	hsa-miR-3182	CLIP-seq
MIRT1078306	hsa-miR-3184	CLIP-seq
MIRT1078309	hsa-miR-329	CLIP-seq
MIRT2019509	hsa-miR-331-3p	CLIP-seq
MIRT1078310	hsa-miR-335	CLIP-seq
MIRT1078312	hsa-miR-3612	CLIP-seq
MIRT1078313	hsa-miR-3619-5p	CLIP-seq
MIRT1078314	hsa-miR-362-3p	CLIP-seq
MIRT1078315	hsa-miR-3652	CLIP-seq
MIRT2019510	hsa-miR-3665	CLIP-seq
MIRT2019511	hsa-miR-3680	CLIP-seq
MIRT1078318	hsa-miR-3689d	CLIP-seq
MIRT1078319	hsa-miR-3690	CLIP-seq
MIRT1078320	hsa-miR-3911	CLIP-seq
MIRT1078321	hsa-miR-3914	CLIP-seq
MIRT2019512	hsa-miR-3915	CLIP-seq
MIRT1078323	hsa-miR-3919	CLIP-seq
MIRT2019513	hsa-miR-3928	CLIP-seq
MIRT1078324	hsa-miR-3944-5p	CLIP-seq
MIRT1078325	hsa-miR-423-5p	CLIP-seq
MIRT1078326	hsa-miR-4254	CLIP-seq
MIRT2019514	hsa-miR-4267	CLIP-seq
MIRT1078327	hsa-miR-4270	CLIP-seq
MIRT2019515	hsa-miR-4276	CLIP-seq
MIRT2019516	hsa-miR-4279	CLIP-seq
MIRT1078328	hsa-miR-4292	CLIP-seq
MIRT1078329	hsa-miR-4298	CLIP-seq
MIRT1078330	hsa-miR-4308	CLIP-seq
MIRT2019517	hsa-miR-4316	CLIP-seq
MIRT1078331	hsa-miR-4430	CLIP-seq
MIRT1078334	hsa-miR-4436b-3p	CLIP-seq
MIRT1078335	hsa-miR-4441	CLIP-seq
MIRT1078336	hsa-miR-4443	CLIP-seq
MIRT1078337	hsa-miR-4455	CLIP-seq
MIRT1078339	hsa-miR-4464	CLIP-seq
MIRT1078341	hsa-miR-4483	CLIP-seq
MIRT1078342	hsa-miR-4488	CLIP-seq
MIRT1078343	hsa-miR-4497	CLIP-seq
MIRT1078344	hsa-miR-4514	CLIP-seq
MIRT1078345	hsa-miR-4525	CLIP-seq
MIRT1078346	hsa-miR-4645-5p	CLIP-seq
MIRT1078347	hsa-miR-4648	CLIP-seq
MIRT2019518	hsa-miR-4653-3p	CLIP-seq
MIRT1078350	hsa-miR-4665-5p	CLIP-seq
MIRT2019519	hsa-miR-4670-3p	CLIP-seq
MIRT1078353	hsa-miR-4673	CLIP-seq
MIRT1078355	hsa-miR-4691-3p	CLIP-seq
MIRT1078356	hsa-miR-4692	CLIP-seq
MIRT1078357	hsa-miR-4697-5p	CLIP-seq
MIRT2019520	hsa-miR-4707-5p	CLIP-seq
MIRT1078361	hsa-miR-4723-5p	CLIP-seq
MIRT1078364	hsa-miR-4731-5p	CLIP-seq
MIRT1078366	hsa-miR-4739	CLIP-seq
MIRT1078367	hsa-miR-4748	CLIP-seq
MIRT1078370	hsa-miR-4756-5p	CLIP-seq
MIRT1078371	hsa-miR-4761-3p	CLIP-seq
MIRT1550389	hsa-miR-4782-5p	CLIP-seq
MIRT2019521	hsa-miR-483-3p	CLIP-seq
MIRT1078372	hsa-miR-485-5p	CLIP-seq
MIRT1078374	hsa-miR-516b	CLIP-seq
MIRT2019522	hsa-miR-539	CLIP-seq
MIRT1078378	hsa-miR-625	CLIP-seq
MIRT1078380	hsa-miR-637	CLIP-seq
MIRT1078381	hsa-miR-644	CLIP-seq
MIRT1078382	hsa-miR-650	CLIP-seq
MIRT1078386	hsa-miR-761	CLIP-seq
MIRT1078279	hsa-miR-103a	CLIP-seq
MIRT1078280	hsa-miR-107	CLIP-seq
MIRT1078281	hsa-miR-1207-3p	CLIP-seq
MIRT2251334	hsa-miR-1225-5p	CLIP-seq
MIRT1078282	hsa-miR-1252	CLIP-seq
MIRT2251335	hsa-miR-125a-5p	CLIP-seq
MIRT2251336	hsa-miR-125b	CLIP-seq
MIRT1078283	hsa-miR-1275	CLIP-seq
MIRT1078285	hsa-miR-1291	CLIP-seq
MIRT2019507	hsa-miR-1294	CLIP-seq
MIRT1078288	hsa-miR-1296	CLIP-seq
MIRT1078289	hsa-miR-1302	CLIP-seq
MIRT1078290	hsa-miR-1321	CLIP-seq
MIRT2251337	hsa-miR-184	CLIP-seq
MIRT1078294	hsa-miR-193a-5p	CLIP-seq
MIRT1078295	hsa-miR-197	CLIP-seq
MIRT1078297	hsa-miR-214	CLIP-seq
MIRT1078298	hsa-miR-2909	CLIP-seq
MIRT1078300	hsa-miR-3135b	CLIP-seq
MIRT1078302	hsa-miR-3157-5p	CLIP-seq
MIRT1078306	hsa-miR-3184	CLIP-seq
MIRT1078308	hsa-miR-3197	CLIP-seq
MIRT1078309	hsa-miR-329	CLIP-seq
MIRT2019509	hsa-miR-331-3p	CLIP-seq
MIRT1078310	hsa-miR-335	CLIP-seq
MIRT1078312	hsa-miR-3612	CLIP-seq
MIRT1078313	hsa-miR-3619-5p	CLIP-seq
MIRT1078314	hsa-miR-362-3p	CLIP-seq
MIRT1078316	hsa-miR-3667-5p	CLIP-seq
MIRT2019511	hsa-miR-3680	CLIP-seq
MIRT1078319	hsa-miR-3690	CLIP-seq
MIRT1078321	hsa-miR-3914	CLIP-seq
MIRT2019512	hsa-miR-3915	CLIP-seq
MIRT1078323	hsa-miR-3919	CLIP-seq
MIRT2019513	hsa-miR-3928	CLIP-seq
MIRT1078324	hsa-miR-3944-5p	CLIP-seq
MIRT1078325	hsa-miR-423-5p	CLIP-seq
MIRT1078326	hsa-miR-4254	CLIP-seq
MIRT1078327	hsa-miR-4270	CLIP-seq
MIRT2019516	hsa-miR-4279	CLIP-seq
MIRT1078328	hsa-miR-4292	CLIP-seq
MIRT1078329	hsa-miR-4298	CLIP-seq
MIRT1078330	hsa-miR-4308	CLIP-seq
MIRT2019517	hsa-miR-4316	CLIP-seq
MIRT2251338	hsa-miR-4319	CLIP-seq
MIRT1078334	hsa-miR-4436b-3p	CLIP-seq
MIRT1078335	hsa-miR-4441	CLIP-seq
MIRT1078336	hsa-miR-4443	CLIP-seq
MIRT1078337	hsa-miR-4455	CLIP-seq
MIRT1078339	hsa-miR-4464	CLIP-seq
MIRT1078342	hsa-miR-4488	CLIP-seq
MIRT2251339	hsa-miR-4506	CLIP-seq
MIRT1078344	hsa-miR-4514	CLIP-seq
MIRT1078345	hsa-miR-4525	CLIP-seq
MIRT2251340	hsa-miR-4539	CLIP-seq
MIRT1550387	hsa-miR-4642	CLIP-seq
MIRT1078346	hsa-miR-4645-5p	CLIP-seq
MIRT1078347	hsa-miR-4648	CLIP-seq
MIRT1078350	hsa-miR-4665-5p	CLIP-seq
MIRT1078352	hsa-miR-4668-5p	CLIP-seq
MIRT2019519	hsa-miR-4670-3p	CLIP-seq
MIRT1078353	hsa-miR-4673	CLIP-seq
MIRT1078355	hsa-miR-4691-3p	CLIP-seq
MIRT1078356	hsa-miR-4692	CLIP-seq
MIRT1078357	hsa-miR-4697-5p	CLIP-seq
MIRT1550388	hsa-miR-4720-5p	CLIP-seq
MIRT1078361	hsa-miR-4723-5p	CLIP-seq
MIRT1078364	hsa-miR-4731-5p	CLIP-seq
MIRT2251341	hsa-miR-4732-3p	CLIP-seq
MIRT1078366	hsa-miR-4739	CLIP-seq
MIRT2251342	hsa-miR-4746-5p	CLIP-seq
MIRT1078367	hsa-miR-4748	CLIP-seq
MIRT2251343	hsa-miR-4749-3p	CLIP-seq
MIRT1078369	hsa-miR-4751	CLIP-seq
MIRT1078370	hsa-miR-4756-5p	CLIP-seq
MIRT1078371	hsa-miR-4761-3p	CLIP-seq
MIRT1550390	hsa-miR-4799-3p	CLIP-seq
MIRT2251344	hsa-miR-4804-5p	CLIP-seq
MIRT2019521	hsa-miR-483-3p	CLIP-seq
MIRT1078372	hsa-miR-485-5p	CLIP-seq
MIRT1078373	hsa-miR-490-3p	CLIP-seq
MIRT1078374	hsa-miR-516b	CLIP-seq
MIRT1078376	hsa-miR-570	CLIP-seq
MIRT1078378	hsa-miR-625	CLIP-seq
MIRT1078379	hsa-miR-627	CLIP-seq
MIRT1078380	hsa-miR-637	CLIP-seq
MIRT1078382	hsa-miR-650	CLIP-seq
MIRT2251345	hsa-miR-670	CLIP-seq
MIRT1078386	hsa-miR-761	CLIP-seq
MIRT1078387	hsa-miR-924	CLIP-seq
MIRT1078289	hsa-miR-1302	CLIP-seq
MIRT1078329	hsa-miR-4298	CLIP-seq
MIRT1078347	hsa-miR-4648	CLIP-seq
MIRT2452102	hsa-miR-1273f	CLIP-seq
MIRT1078303	hsa-miR-3175	CLIP-seq
MIRT2452103	hsa-miR-3689a-3p	CLIP-seq
MIRT2452104	hsa-miR-3689c	CLIP-seq
MIRT2452105	hsa-miR-4512	CLIP-seq
MIRT1078359	hsa-miR-4706	CLIP-seq
MIRT1078363	hsa-miR-4728-5p	CLIP-seq
MIRT1078368	hsa-miR-4749-5p	CLIP-seq
MIRT2452106	hsa-miR-4781-5p	CLIP-seq
MIRT2452107	hsa-miR-657	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DNMT3A	Unknown	17998942

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IGI	28115160
GO:0002159	Process	Desmosome assembly	IDA	9049256
GO:0002159	Process	Desmosome assembly	IEA
GO:0002159	Process	Desmosome assembly	IMP	20859650
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	14661054
GO:0005198	Function	Structural molecule activity	NAS	22889254
GO:0005515	Function	Protein binding	IPI	7650039, 7890674, 7983064, 10801826, 11790773, 12370829, 14661054, 16189514, 16917092, 17098867, 17924338, 19060904, 19136012, 20859650, 20936779, 24658140, 24965446, 25241761, 25416956, 26496610, 26871637, 28514442, 31515488, 31980649, 32296183, 33961781, 35384245, 39251607
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	14661054
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	14661054
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	ISS
GO:0005882	Component	Intermediate filament	IEA
GO:0005886	Component	Plasma membrane	IDA	14661054, 20859650
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	1639850, 7650039, 7983064, 10460003, 14661054
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	10403777
GO:0005912	Component	Adherens junction	IEA
GO:0005915	Component	Zonula adherens	ISS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0014704	Component	Intercalated disc	IDA	22781308, 22889254, 23381804
GO:0016020	Component	Membrane	IEA
GO:0016342	Component	Catenin complex	IBA
GO:0016342	Component	Catenin complex	IDA	7650039
GO:0016342	Component	Catenin complex	IEA
GO:0016477	Process	Cell migration	IMP	18937352
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0019903	Function	Protein phosphatase binding	IBA
GO:0019903	Function	Protein phosphatase binding	IPI	8663237
GO:0030018	Component	Z disc	IEA
GO:0030056	Component	Hemidesmosome	ISS
GO:0030057	Component	Desmosome	IDA	1639850, 2726765, 20859650
GO:0030057	Component	Desmosome	IEA
GO:0032993	Component	Protein-DNA complex	IDA	14661054
GO:0035580	Component	Specific granule lumen	TAS
GO:0042127	Process	Regulation of cell population proliferation	IDA	17924338
GO:0042307	Process	Positive regulation of protein import into nucleus	IDA	10825188, 14661054
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IGI	28115160
GO:0043588	Process	Skin development	IEA
GO:0045294	Function	Alpha-catenin binding	IBA
GO:0045294	Function	Alpha-catenin binding	IEA
GO:0045294	Function	Alpha-catenin binding	IPI	7650039, 7890674, 23136403
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IBA
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	IPI	1639850, 7650039
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IGI	28115160
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14661054
GO:0050839	Function	Cell adhesion molecule binding	IPI	17559062
GO:0050982	Process	Detection of mechanical stimulus	IDA	18937352
GO:0050982	Process	Detection of mechanical stimulus	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070161	Component	Anchoring junction	IEA
GO:0071603	Process	Endothelial cell-cell adhesion	ISS
GO:0071664	Component	Catenin-TCF7L2 complex	IEA
GO:0071665	Component	Gamma-catenin-TCF7L2 complex	IDA	14661054
GO:0071681	Process	Cellular response to indole-3-methanol	IDA	10868478
GO:0071681	Process	Cellular response to indole-3-methanol	IEA
GO:0072659	Process	Protein localization to plasma membrane	IMP	20859650
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	17924338
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	17924338
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	17924338
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IC	14661054
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IDA	18937352
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IMP	20859650
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	17924338
GO:0106006	Function	Cytoskeletal protein-membrane anchor activity	IDA	9049256
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 173325
• HGNC: 6207
• e!Ensembl: ENSG00000173801

Protein

• UniProt ID: P14923
• Protein name: Junction plakoglobin (Catenin gamma) (Desmoplakin III) (Desmoplakin-3)
• Protein function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of p
• PDB: 3IFQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	215 → 254	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	341 → 381	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	573 → 613	Armadillo/beta-catenin-like repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the heart (at protein level). {ECO:0000269|PubMed:33784018}.
• Sequence:

  MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTT
  YTQGVPPSQGDLEYQMSTTARAKRVREAMCPGVSGEDSSLLLATQVEGQATNLQRLAEPS
  QLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
  GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVE
  SVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQ
  ESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
  LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTC
  NNSKNKTLVTQNSGVEALIHAILRAGDKDDITEPAVCALRHLTSRHPEAEMAQNSVRLNY
  GIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
  HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENI
  QRVAAGVLCELAQDKEAADAIDAEGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDY
  RKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDM
  DGDYPIDTYSDGLRPPYPTADHMLA

• Sequence length: 745

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Arrhythmogenic right ventricular dysplasia 12	Likely pathogenic; Pathogenic	rs2143591648, rs2143651415, rs2143683612, rs2143697976, rs2143426682, rs2143456924, rs2143416425, rs2143680611, rs2544036992, rs2544179444, rs113994177, rs2544109573, rs1555602420, rs2544160342, rs2544050841, rs2544127550, rs1555606936, rs1597782553, rs1597801392, rs373761090, rs145592971	RCV001378185 RCV001386724 RCV001382051 RCV001999850 RCV001912788 RCV001959080 RCV001902132 RCV001918646 RCV002633309 RCV002993772 RCV001731287 RCV003783023 RCV003780349 RCV003787234 RCV003802076 RCV003810264 RCV001382209 RCV000795298 RCV000816517 RCV000821402 RCV001063665
Cardiomyopathy	Likely pathogenic	rs1915470891	RCV001170359
Naxos disease	Likely pathogenic; Pathogenic	rs2143591648, rs2143651415, rs2143683612, rs2143697976, rs2143426682, rs2143456924, rs2143416425, rs2143680611, rs2544036992, rs782460555, rs797046139, rs2544179444, rs113994177, rs2544109573, rs1555602420, rs2544160342, rs2544050841, rs2544127550, rs1340949974, rs1555602080, rs1555606936, rs1597782553, rs1597801392, rs373761090, rs145592971	RCV001378185 RCV001386724 RCV001382051 RCV001999850 RCV001912788 RCV001959080 RCV001902132 RCV001918646 RCV002633309 RCV000194470 RCV000193584 RCV002993772 RCV000014569 RCV003783023 RCV003780349 RCV003787234 RCV003802076 RCV003810264 RCV004018071 RCV004018072 RCV000531029 RCV000795298 RCV000816517 RCV000821402 RCV001063665
Primary dilated cardiomyopathy	Likely pathogenic	rs2544109091	RCV003233329

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs1555604620, rs782012233, rs1555602080, rs78437817, rs869025443, rs782058451, rs782370709, rs782439900, rs886052919, rs140002183, rs193922705, rs199591001	RCV002260469 RCV002260470 RCV002260471 RCV000157250 RCV000208467 RCV000208313 RCV000208478 RCV000394661 RCV000298154 RCV000376591 RCV000396251 RCV005250140
Cardiac arrhythmia	Conflicting classifications of pathogenicity; Benign; Likely benign	rs375788626, rs116772523, rs2230407, rs193922705	RCV006255160 RCV001841526 RCV001841527 RCV001841528
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs782475413, rs1913591137, rs1915432778, rs1915921460, rs1304500107, rs1021325325, rs1038719021, rs1916158675, rs1460748612, rs2143451579, rs1255846046, rs1327324458, rs1322804388, rs554046226, rs2143735253, rs1555606996, rs1326867934, rs374831874, rs782266138, rs782794110, rs572405296, rs375489362, rs199683273, rs868945297, rs781795344, rs1016855983, rs1555599694, rs782620083, rs782108002, rs887639693, rs112787493, rs1915903703, rs782535119, rs782761197, rs988891105, rs2143385240, rs782076415, rs782211863, rs2143735148, rs782509792, rs782009178, rs782130740, rs142102308, rs781905238, rs782010606, rs1371912642, rs782412433, rs782574785, rs1208908708, rs1009184280, rs782096012, rs202091411, rs781999758, rs369722007, rs373544304, rs782713414, rs140670556, rs188888662, rs782690097, rs1555605437, rs781869872, rs2143420466, rs1567819889, rs781784933, rs782306414, rs782203227, rs1555599847, rs781857012, rs782109462, rs557075259, rs782215140, rs782490959, rs782435477, rs2143558258, rs781976753, rs1916162051, rs1555599788, rs782816522, rs781813778, rs564635690, rs2143420014, rs1915911159, rs147121864, rs782444566, rs1555603222, rs150194093, rs1477036549, rs2143684447, rs373434456, rs143502391, rs140537908, rs112879398, rs147628503, rs77375949, rs200019016, rs727503099, rs146804895, rs138397457, rs144171604, rs376123010, rs145175985, rs375451560, rs142095597, rs140606359, rs372145644, rs371481933, rs200690479, rs727504695, rs727504778, rs570878629, rs531732438, rs2544127288, rs730880114, rs200327969, rs78437817, rs1555605713, rs192045586, rs782377671, rs1555605645, rs2544182773, rs1916158060, rs958679634, rs368479692, rs141124805, rs1337881483, rs2544217141, rs2544110111, rs1916138410, rs782020555, rs2544109763, rs1597835225, rs781809934, rs781832261, rs199530395, rs571363075, rs2544163011, rs2544162987, rs1555604600, rs1915491813, rs782648921, rs2544133013, rs1916685977, rs2544178913, rs2544216733, rs546349982, rs2544216840, rs2544109065, rs1174382765, rs555082435, rs1433432540, rs1555602212, rs201553154, rs781945506, rs1206301205, rs2544038213, rs782512979, rs1915154315, rs782449369, rs2544214667, rs2143429452, rs1060502678, rs1555598908, rs1555603232, rs2544050218, rs2544049810, rs2544039197, rs1555606943, rs1914074747, rs965652634, rs781854644, rs1914062783, rs1321508670, rs1914026171, rs1271629670, rs1319143037, rs2544007822, rs782191490, rs2544194811, rs1406214813, rs2544008362, rs781848758, rs2544009292, rs782532135, rs1555605900, rs2544217919, rs781926410, rs782759301, rs1916703730, rs782165604, rs752594411, rs142213474, rs199826380, rs201214805, rs377612199, rs368336007, rs149004293, rs372364561, rs1260866542, rs1481267089, rs543862977, rs1555606922, rs782728300, rs1409727547, rs1220770833, rs781854188, rs782565128, rs781804177, rs781883243, rs782547688, rs370101446, rs368271628, rs781888888, rs794729045, rs76416187, rs782145797, rs200740462, rs199597864, rs794729054, rs782091454, rs794729040, rs794729039, rs794729052, rs370143312, rs148484473, rs782284038, rs375788626, rs782392706, rs794729029, rs1915180463, rs2544032916, rs886037753, rs782440692, rs542144750, rs1914316480, rs575015278, rs1161280934, rs1555599840, rs782667629, rs782058451, rs139496777, rs782370709, rs2544109374, rs1915188553, rs368772249, rs376289528, rs202038498, rs781805854, rs782653485, rs782301706, rs2143679510, rs2544182559, rs200283001, rs2544006478, rs1555606905, rs782648958, rs373919544, rs149248322, rs2544050302, rs571707598, rs2544216620, rs781884735, rs782527507, rs878854482, rs147354282, rs140539043, rs782632671, rs782465430, rs376043057, rs544224850, rs782770278, rs146786437, rs782052422, rs782136684, rs2544109402, rs2544178937, rs2544160203, rs2544161162, rs2544159874, rs2544110950, rs2544191524, rs2544036896, rs1916275770, rs2544216859, rs2143461477, rs1278511367, rs2544033117, rs1555597332, rs2544192771, rs2544162537, rs1225664898, rs2544161578, rs1159377909, rs113317262, rs1914098878, rs782541154, rs781843321, rs782616837, rs868918769, rs530653041, rs782611253, rs2544107133, rs1555605152, rs781883918, rs1005430954, rs2544182143, rs2544108926, rs2544055952, rs2544007971, rs2544194465, rs2544217465, rs370003514, rs781992518, rs2544160996, rs782279056, rs1555603459, rs782439900, rs782094877, rs782658008, rs781934535, rs1126821, rs371508357, rs782176670, rs1057518313, rs782529328, rs782144363, rs782622653, rs149148171, rs201704572, rs145808264, rs763261901, rs1057521340, rs368865601, rs782573436, rs782341732, rs370760069, rs782122765, rs1031612674, rs531692563, rs1057523570, rs782165431, rs375801194, rs147159111, rs782493861, rs781818082, rs782623854, rs368692517, rs368564000, rs781907298, rs555499592, rs547437428, rs1060502679, rs781982717, rs1060502681, rs369755953, rs781965392, rs139172952, rs139559495, rs1555597540, rs782765314, rs781875765, rs2230407, rs139552714, rs112105828, rs782702266, rs782737074, rs559297418, rs376051686, rs1254146503, rs113994176, rs782575179, rs782693565, rs782354654, rs375094290, rs142599474, rs141237794, rs897549158, rs148381639, rs111344340, rs144137028, rs781900856, rs782579395, rs138446862, rs782445315, rs1285789744, rs954113545, rs781828085, rs782309611, rs1555599849, rs955019712, rs376391674, rs1555603199, rs1555604537, rs199853316, rs146581757, rs781786854, rs370913228, rs782585387, rs397517298, rs782756834, rs781889333, rs782212737, rs782135453, rs782285849, rs137989964, rs782685734, rs782498980, rs200001999, rs782044013, rs1555605296, rs1555605325, rs2230408, rs369507567, rs147370522, rs397517296, rs149926974, rs143043662, rs7405731, rs141295561, rs151178348, rs200976464, rs397517300, rs17850807, rs41283425, rs145592971, rs35297577, rs201313464, rs397517302, rs545547083, rs940226194, rs1220042864, rs1567818128, rs1188860546, rs139454583, rs542745694, rs782455234, rs1567815934, rs1482026041, rs781926392, rs150245906, rs372369061, rs782695128, rs782465804, rs781788038, rs782031185, rs1597808505, rs982161216, rs374566089, rs1597823588, rs200221163, rs374008304, rs1597781765, rs782280458, rs782450410, rs376345105, rs782771003, rs782745301, rs781958880, rs782477974, rs781822316, rs371142035, rs782089101, rs782069599, rs1597817544, rs1597823864, rs1454514424, rs782230165, rs781885294, rs782336064, rs1914011596, rs909955430, rs571375136, rs369486398, rs782575391, rs1455055075, rs1567815863, rs1490199319, rs150769772, rs782733459, rs375580484, rs372963143, rs781859850, rs1012247750, rs1916176553, rs199591001, rs781978743, rs782254006, rs376881608, rs782205755, rs1181838480, rs781793865, rs376608339, rs781876461, rs1916151526, rs782240305, rs782647137, rs782261124, rs1347008405, rs782760341, rs397517297, rs149623442, rs1915926866, rs1185864978, rs1367975995, rs782594495, rs782241125, rs782527770	RCV004034242 RCV002431896 RCV005582679 RCV006347663 RCV003166849 RCV003294354 RCV002404835 RCV005648132 RCV003298583 RCV005582740 RCV002404853 RCV002395830 RCV002341815 RCV005648136 RCV005582736 RCV004629617 RCV005348495 RCV002395914 RCV003298651 RCV002341902 RCV002341909 RCV004995751 RCV002432246 RCV003375302 RCV005648150 RCV004038619 RCV004995844 RCV005584852 RCV004995843 RCV002368454 RCV002350948 RCV003160961 RCV005584859 RCV002388542 RCV003161099 RCV004039967 RCV005405744 RCV002370293 RCV002370298 RCV005652707 RCV005648160 RCV003299011 RCV002397754 RCV002425094 RCV002344153 RCV003303675 RCV002407207 RCV003382741 RCV002425294 RCV005584972 RCV002425342 RCV002423071 RCV004043556 RCV002352632 RCV005405770 RCV000618348 RCV005405775 RCV000253125 RCV000619251 RCV003164187 RCV002334966 RCV002423075 RCV002407104 RCV005585082 RCV005361919 RCV003167082 RCV002458886 RCV002388745 RCV004996093 RCV005648187 RCV002386726 RCV002370591 RCV002407012 RCV002334929 RCV002391133 RCV002343895 RCV004045391 RCV004990674 RCV005648208 RCV002407369 RCV002352854 RCV002372974 RCV004045014 RCV004047099 RCV004045802 RCV002400354 RCV004990696 RCV002390299 RCV004631951 RCV005648211 RCV003164347 RCV004990750 RCV004990758 RCV000249782 RCV002415637 RCV002381467 RCV002354344 RCV002381468 RCV002444615 RCV002415638 RCV000619741 RCV002453485 RCV002415656 RCV000251516 RCV000617705 RCV002372009 RCV002354366 RCV000621366 RCV000619443 RCV004992028 RCV004019870 RCV000253975 RCV003162646 RCV002445585 RCV002408706 RCV002408705 RCV002381507 RCV002323223 RCV002346649 RCV002368966 RCV002330394 RCV002347246 RCV002356027 RCV002366552 RCV002342197 RCV002344447 RCV002361774 RCV002330659 RCV002351651 RCV002378058 RCV002362427 RCV002370997 RCV002394179 RCV002394255 RCV002419076 RCV002434642 RCV002373703 RCV002371461 RCV002378396 RCV002370719 RCV002391502 RCV002378846 RCV002378858 RCV002385231 RCV002374351 RCV002365098 RCV002380519 RCV002371163 RCV002364737 RCV002380565 RCV002387821 RCV002383364 RCV002392004 RCV002385846 RCV002389813 RCV002392638 RCV002399117 RCV002410269 RCV002410284 RCV002385590 RCV002396535 RCV002401080 RCV002404074 RCV002407808 RCV002415149 RCV002415319 RCV002415360 RCV002414566 RCV002414666 RCV002401863 RCV002414889 RCV002414964 RCV002412718 RCV002423687 RCV002408368 RCV002410608 RCV002421618 RCV002421881 RCV002430617 RCV002432478 RCV002417878 RCV002417468 RCV002417645 RCV002417688 RCV002425906 RCV002423961 RCV002424100 RCV002435449 RCV002435657 RCV002435627 RCV005585315 RCV003294442 RCV004992488 RCV005587320 RCV002408745 RCV000618640 RCV002326943 RCV002372073 RCV002390411 RCV000244325 RCV002453594 RCV004629156 RCV006342806 RCV006342786 RCV003384333 RCV004992497 RCV004068831 RCV003162047 RCV003384344 RCV004992541 RCV005648229 RCV002415781 RCV003298239 RCV002408807 RCV002399671 RCV002399670 RCV006342161 RCV003165403 RCV004020220 RCV004020219 RCV004020221 RCV000251525 RCV002444742 RCV002426884 RCV002415782 RCV004020218 RCV002399672 RCV002345643 RCV002345642 RCV002336467 RCV002326992 RCV004020217 RCV002433817 RCV003167538 RCV004632047 RCV002336520 RCV002415828 RCV003308325 RCV006342636 RCV004067049 RCV005585309 RCV004086129 RCV002415874 RCV005404393 RCV002354587 RCV002345750 RCV004168011 RCV004165523 RCV000621294 RCV002408923 RCV002336593 RCV000251485 RCV000621685 RCV004020621 RCV002390589 RCV004175432 RCV004233455 RCV003181547 RCV003181548 RCV003181549 RCV003181550 RCV003181551 RCV003168233 RCV003181552 RCV003181553 RCV003181554 RCV000617763 RCV004020788 RCV004020787 RCV002354649 RCV000618402 RCV000249075 RCV000243320 RCV000244622 RCV000245589 RCV000248046 RCV000247465 RCV000249943 RCV004313087 RCV004316799 RCV003301362 RCV003301363 RCV003301364 RCV003301365 RCV003301366 RCV003301367 RCV003301368 RCV003301369 RCV003301371 RCV003380176 RCV003380177 RCV003380178 RCV003380179 RCV003380180 RCV003380181 RCV003380182 RCV003380183 RCV003380184 RCV005587508 RCV004992814 RCV004634355 RCV004992841 RCV004366586 RCV005356528 RCV004992810 RCV005353283 RCV005587507 RCV004992836 RCV005587509 RCV004366619 RCV004992845 RCV005648314 RCV004403483 RCV004513422 RCV004513424 RCV004513426 RCV004513427 RCV004513428 RCV004513429 RCV004513430 RCV004513431 RCV004513432 RCV004513434 RCV002429281 RCV002418185 RCV002411219 RCV005582299 RCV000251926 RCV002429280 RCV003298384 RCV002356510 RCV002402106 RCV004991902 RCV000620043 RCV002411406 RCV002411392 RCV000619931 RCV002379345 RCV002379326 RCV002411339 RCV002446685 RCV005652375 RCV002402145 RCV002411370 RCV005348115 RCV002379310 RCV003168688 RCV002429390 RCV000617969 RCV002429456 RCV002339074 RCV000619988 RCV002411556 RCV000618378 RCV002323730 RCV002341104 RCV002418404 RCV003168911 RCV000618384 RCV002374789 RCV002393134 RCV002365645 RCV002379466 RCV002383889 RCV000621825 RCV006342312 RCV003380597 RCV000617807 RCV000247369 RCV002350307 RCV002367884 RCV002330914 RCV002438426 RCV004992344 RCV002395414 RCV003302854 RCV005652395 RCV002358543 RCV002367885 RCV004992345 RCV000618150 RCV000617746 RCV002330913 RCV002377109 RCV002413667 RCV002413668 RCV002384309 RCV004024926 RCV002343153 RCV002448888 RCV002413700 RCV000618593 RCV002404644 RCV002395576 RCV000620798 RCV000618552 RCV000620893 RCV000621005 RCV000619833 RCV000617699 RCV000620045 RCV000619371 RCV000622161 RCV000619870 RCV000620263 RCV000618804 RCV000620297 RCV000617176 RCV000619038 RCV002404707 RCV002360594 RCV002343314 RCV002397246 RCV002388098 RCV002369708 RCV002386078 RCV002449040 RCV002449039 RCV003303043 RCV006342432 RCV003162924 RCV002388099 RCV004025673 RCV005357858 RCV002343313 RCV000252367 RCV003162344 RCV000617982 RCV004018888 RCV000244640 RCV000248914 RCV000248512 RCV000618792 RCV000621167 RCV000621188 RCV002453320 RCV000243259 RCV000253234 RCV000247430 RCV002345304 RCV000251291 RCV000619953 RCV002371840 RCV002422560 RCV002397399 RCV002388205 RCV002360761 RCV006342498 RCV002397370 RCV002424726 RCV003380681 RCV005648047 RCV002352277 RCV002325483 RCV002332568 RCV002422746 RCV002415928 RCV002406771 RCV002388486 RCV004029079 RCV002370158 RCV002370134 RCV002363162 RCV002360932 RCV002352351 RCV002332696 RCV004029104 RCV002406735 RCV005359559 RCV002390761 RCV004994077 RCV002372405 RCV002345943 RCV004994086 RCV002399926 RCV004994083 RCV002416036 RCV002445098 RCV002320177 RCV003169311 RCV003169322 RCV003307685 RCV003169308 RCV006347292 RCV004994132 RCV002332926 RCV002320210 RCV005582489 RCV002363544 RCV002427495 RCV002429724 RCV002418568 RCV002409378 RCV002400321 RCV002391100 RCV002379533 RCV005582513 RCV002445322 RCV002365722 RCV005648074 RCV002454277 RCV004031374 RCV002365738 RCV002393353 RCV002418588 RCV004994258 RCV005648091 RCV002327402 RCV002348566 RCV004994256 RCV004032922 RCV004032982 RCV002375118 RCV003163495 RCV005405542 RCV003380899 RCV006347524 RCV005582602 RCV002436825 RCV004994320 RCV002379807 RCV002365913 RCV002429865 RCV002429986 RCV002429990 RCV002429977 RCV004032544 RCV002402748 RCV002411871 RCV004033275 RCV006347573 RCV002393736 RCV003294213 RCV002350507 RCV005582660
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs201627219, rs116666639	RCV005890053 RCV005890056
Conduction disorder of the heart	Conflicting classifications of pathogenicity	rs150245906	RCV001256955
Familial cancer of breast	Benign; Likely benign	rs201627219	RCV005890052
Gastric cancer	Benign	rs545000698, rs1555599887	RCV005922299 RCV005868579
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs143043662, rs138366708, rs782124059	RCV000852718 RCV000852717 RCV001089612
JUP-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs782306414, rs1555606996, rs1009184280, rs188888662, rs77375949, rs145175985, rs375451560, rs372145644, rs727504940, rs200327969, rs199826380, rs377612199, rs794729044, rs148484473, rs782284038, rs782370709, rs371988639, rs368772249, rs1555604610, rs530653041, rs782230165, rs782094877, rs559297418, rs138366708, rs141295561, rs35297577, rs34890640, rs376345105, rs782771003, rs1597801519, rs150769772, rs1165044090, rs782261124, rs1347008405, rs149623442	RCV003416231 RCV004754743 RCV003893030 RCV004754305 RCV003952716 RCV003945217 RCV003895056 RCV003965151 RCV003945247 RCV003965172 RCV003954999 RCV003917590 RCV004754339 RCV003955111 RCV003416106 RCV003897457 RCV003917896 RCV003907806 RCV003400128 RCV004755017 RCV003917364 RCV003940274 RCV004754466 RCV003904934 RCV003974893 RCV004754284 RCV003974894 RCV003938243 RCV003918348 RCV003910697 RCV004754677 RCV003953573 RCV004754708 RCV004754707 RCV004754709
Left ventricular hypertrophy	Conflicting classifications of pathogenicity	rs149004293	RCV000678710
Left ventricular noncompaction	Conflicting classifications of pathogenicity	rs376051686	RCV000624487
Left ventricular noncompaction 1	Uncertain significance	rs782498980	RCV001256953
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	rs151178348	RCV000157253
Long QT syndrome	Uncertain significance	rs2544007733, rs782392706	RCV003318446 RCV003318396
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs201627219, rs116666639	RCV005890054 RCV005890057
non-syndromic arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	rs147354282	RCV004820841
Primary familial dilated cardiomyopathy	Uncertain significance	rs782449369	RCV000623765
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs150194093, rs730880114, rs368336007, rs781988240	RCV000143904 RCV000157252 RCV000208296 RCV000208179
See cases	Uncertain significance	rs1555601984	RCV004584486
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs781859850	RCV005913793
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs371727352, rs201627219, rs116666639	RCV005927818 RCV005890055 RCV005890058
Ventricular fibrillation, paroxysmal familial, type 1	Conflicting classifications of pathogenicity	rs147628503, rs200327969	RCV000208373 RCV000157251
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity	rs794729052, rs139496777, rs782061304	RCV000656182 RCV000656166 RCV000656146

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	36803948
Arrhythmogenic Right Ventricular Dysplasia	Associate	20124997, 20130592, 25445213, 25837155, 31275992, 33303784, 33831308, 37418234, 37995437, 39180012
Atherosclerosis	Associate	23110151
Breast Neoplasms	Associate	15187990
Carcinoma Renal Cell	Associate	33591636
Cardiomegaly	Associate	33303784
Cardiomyopathies	Associate	20130592
Colorectal Neoplasms	Associate	24504536, 36036768, 38069408, 38203664
Death	Associate	18224668
Death Sudden Cardiac	Associate	39180012
Diabetic Retinopathy	Associate	36686464
Disease	Associate	20130592
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	20130592, 33303784
Endometriosis	Associate	39684780
Frontotemporal Dementia	Associate	36578035
Heart Defects Congenital	Associate	25205790
Heart Diseases	Associate	20130592, 33303784
Hypoxia	Inhibit	33591636
Keratoderma Palmoplantar	Associate	20130592
Kidney Neoplasms	Associate	33591636
Lymphatic Metastasis	Stimulate	33533127
Melanoma	Associate	37924160
Neoplasm Metastasis	Associate	24006899
Neoplasms	Inhibit	33533127
Neoplasms	Associate	36803948
Neoplasms Germ Cell and Embryonal	Associate	14670177
Ovarian Neoplasms	Stimulate	39684780
Pituitary Neoplasms	Associate	31655798
Prostatic Neoplasms	Associate	33533127
Pulmonary Arterial Hypertension	Associate	40483843
Pulmonary Disease Chronic Obstructive	Associate	28185567
Skin Abnormalities	Associate	20130592
Stomach Neoplasms	Associate	37409971
Stroke	Associate	26679092
Testicular Germ Cell Tumor	Associate	14670177
Urinary Bladder Neoplasms	Associate	34402716
Vulvar Neoplasms	Associate	22673103