• Gene id: 3728

Gene Summary

• Gene Symbol: JUP   Gene   UCSC   Ensembl
• Aliases: CTNNG, DP3, DPIII, PDGB, PKGB
• Gene name: junction plakoglobin
• Alternate names: junction plakoglobin, catenin (cadherin-associated protein), gamma 80kDa, desmoplakin III, desmoplakin-3,
• Gene location: 17q21.2 (41786767: 41754606)     Exons: 19     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 604883

SNPs

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

Protein Summary

• Protein general information: P14923  
  • Name: Junction plakoglobin (Catenin gamma) (Desmoplakin III) (Desmoplakin 3)
  • Length: 745  
  • Mass: 81745
• Sequence:

  MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQGVPPSQGDLEYQ
  MSTTARAKRVREAMCPGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKL
  LNDEDPVVVTKAAMIVNQLSKKEASRRALMGSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKS
  GGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQ
  ESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKHLTSNSPRLVQNCLWT
  LRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDD
  ITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIP
  RLVQLLVKAHQDAQRHVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENI
  QRVAAGVLCELAQDKEAADAIDAEGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKH
  DPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDMDGDYPIDTYSDGLRPPYPTADHMLA

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR000225  IPR013284  IPR030461  
  • Prosite: PS50176
  • PDB: 3IFQ
  • PDBsum: 3IFQ
  • DIP: 36235
  • STRING: ENSP00000377508
• Other Databases: GeneCards:  JUP  Malacards:  JUP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030057	desmosome	IDA	cellular component
GO:0045296	cadherin binding	IBA	molecular function
GO:0045294	alpha-catenin binding	IBA	molecular function
GO:0035257	nuclear hormone receptor binding	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0019903	protein phosphatase binding	IBA	molecular function
GO:0016342	catenin complex	IBA	cellular component
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0002159	desmosome assembly	IEA	biological process
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005912	adherens junction	IEA	cellular component
GO:0045294	alpha-catenin binding	IEA	molecular function
GO:0045296	cadherin binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0016342	catenin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001533	cornified envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0034332	adherens junction organization	TAS	biological process
GO:0035580	specific granule lumen	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002159	desmosome assembly	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0045294	alpha-catenin binding	IEA	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005882	intermediate filament	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016342	catenin complex	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0043588	skin development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005916	fascia adherens	IEA	cellular component
GO:0016327	apicolateral plasma membrane	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0106006	cytoskeletal protein-membrane anchor activity	IDA	molecular function
GO:0005198	structural molecule activity	NAS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0045294	alpha-catenin binding	IPI	molecular function
GO:0045294	alpha-catenin binding	IPI	molecular function
GO:0045296	cadherin binding	IPI	molecular function
GO:0045296	cadherin binding	IPI	molecular function
GO:0045296	cadherin binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0086083	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	molecular function
GO:0045294	alpha-catenin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0014704	intercalated disc	IDA	cellular component
GO:0098609	cell-cell adhesion	IDA	biological process
GO:0030057	desmosome	IDA	cellular component
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0042127	regulation of cell population proliferation	IDA	biological process
GO:0042307	positive regulation of protein import into nucleus	IDA	biological process
GO:0042307	positive regulation of protein import into nucleus	IDA	biological process
GO:0050982	detection of mechanical stimulus	IDA	biological process
GO:0050839	cell adhesion molecule binding	IPI	molecular function
GO:0014704	intercalated disc	IDA	cellular component
GO:0002159	desmosome assembly	IDA	biological process
GO:0014704	intercalated disc	IDA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005915	zonula adherens	ISS	cellular component
GO:0009898	cytoplasmic side of plasma membrane	ISS	cellular component
GO:0016477	cell migration	IMP	biological process
GO:0071603	endothelial cell-cell adhesion	ISS	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086073	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0016342	catenin complex	IDA	cellular component
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0071665	gamma-catenin-TCF7L2 complex	IDA	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	IC	biological process
GO:0001954	positive regulation of cell-matrix adhesion	IGI	biological process
GO:0005634	nucleus	IMP	cellular component
GO:0005737	cytoplasm	IMP	cellular component
GO:0005856	cytoskeleton	ISS	cellular component
GO:0030056	hemidesmosome	ISS	NOT|cellular component
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0043537	negative regulation of blood vessel endothelial cell migration	IGI	biological process
GO:0045766	positive regulation of angiogenesis	IGI	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0071681	cellular response to indole-3-methanol	IDA	biological process
GO:0005912	adherens junction	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0002159	desmosome assembly	IMP	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0098609	cell-cell adhesion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019903	protein phosphatase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05202	Transcriptional misregulation in cancer
hsa05226	Gastric cancer
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Naxos disease	KEGG:H00669
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Naxos disease	KEGG:H00669
Arrhythmogenic right ventricular cardiomyopathy	PMID:23178689
Cardiomyopathy	PMID:10902626
Endometrial hyperplasia	PMID:12635138
Prostate cancer	PMID:10206308
Prostate cancer	PMID:15781623
urinary bladder cancer	PMID:17363521
Endometrial cancer	PMID:12635138
nephroblastoma	PMID:17633921
Ovarian cancer	PMID:7604000
invasive ductal carcinoma	PMID:16610682
Palmoplantar keratosis	PMID:10902626
seminoma	PMID:11956097
renal cell carcinoma	PMID:9891472
renal cell carcinoma	PMID:15701841
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq