Gene
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Transcription factors
Transcription factor Regulation Reference
DNMT3A Unknown 17998942
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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 IMP 20859650
GO:0003713 Function Transcription coactivator activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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
SVLFYAITTLHNLL
LYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQ
ESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
LTSNSPRLVQNCLWTLRNLSD
VATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTC
NNSKNKTLVTQNSGVEALIHAILRAGDKDDITEPAVCALRHLTSRHPEAEMAQNSVRLNY
GIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENI
QRVAAGVLCELAQ
DKEAADAIDAEGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDY
RKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDM
DGDYPIDTYSDGLRPPYPTADHMLA
Sequence length 745
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Epidermolysis Bullosa inherited epidermolysis bullosa, lethal acantholytic epidermolysis bullosa GenCC
Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia 12 GenCC
Melanoma Melanoma SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. GWAS, CBGDA
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
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