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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3728
Gene name Gene Name - the full gene name approved by the HGNC.	Junction plakoglobin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	JUP
Synonyms (NCBI Gene) Gene synonyms aliases	CTNNG, DP3, DPIII, PDGB, PG, PKGB
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

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Transcription factor	Regulation	Reference
DNMT3A	Unknown	17998942

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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

MIM	HGNC	e!Ensembl
173325	6207	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

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Pathways in cancer Transcriptional misregulation in cancer Acute myeloid leukemia Gastric cancer Arrhythmogenic right ventricular cardiomyopathy		Adherens junctions interactions VEGFR2 mediated vascular permeability Neutrophil degranulation Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (2)

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 12	rs113994177	N/A
Naxos Disease	naxos disease	rs113994177, rs782460555, rs797046139, rs1555606936	N/A

Show/Hide Unknown Diseases (16)

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
Breast Cancer	BRCA1 mutation in breast cancer	N/A	N/A	GWAS
cardiac arrhythmia	Cardiac arrhythmia	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy, left ventricular noncompaction cardiomyopathy	N/A	N/A	ClinVar
Conduction Disorder Of The Heart	conduction disorder of the heart	N/A	N/A	ClinVar
Epidermolysis Bullosa	inherited epidermolysis bullosa, lethal acantholytic epidermolysis bullosa	N/A	N/A	GenCC
Gastric ulcer	Gastric ulcer	N/A	N/A	GWAS
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Left Ventricular Hypertrophy	left ventricular hypertrophy	N/A	N/A	ClinVar
Left ventricular noncompaction	left ventricular noncompaction	N/A	N/A	ClinVar
Melanoma	Melanoma	N/A	N/A	GWAS
Ventricular Fibrillation	Ventricular fibrillation, paroxysmal familial, type 1	N/A	N/A	ClinVar
Ventricular Noncompaction	Left ventricular noncompaction 1	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

JUP (junction plakoglobin)