Jup
Gene Detail

Symbol Name ID

Jup junction plakoglobin MGI:96650

Synonyms

D930025P04Rik, gamma-catenin, PG, plakoglobin

Feature Type

protein coding gene

Genetic Map

Chromosome 11

63.47 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)

Sequence Map

Chr11:100368958-100397763 bp, - strand From VEGA annotation of GRCm38   28806 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1680  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: beta-catenin/plakoglobin
Gene Tree: Jup

Human homologs

Human Homolog		JUP, junction plakoglobin
NCBI Gene ID		3728
neXtProt AC		NX_P14923
Human Synonyms		ARVD12, CTNNG, DP3, DPIII, PDGB, PKGB
Human Chr (Location)		17q21; chr17:39910859-39942964 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human JUP

Alleles and phenotypes

All alleles(226) : Targeted(9) Gene trapped(217)
 

Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes.

 
Human Diseases Modeled Using Mouse Jup (3)    Alleles Annotated to Human Diseases(4)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (80 annotations)

Process	atrioventricular valve morphogenesis, bundle of His cell to Purkinje myocyte communication, ...
Component	actin cytoskeleton, apicolateral plasma membrane, ...
Function	alpha-catenin binding, cadherin binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (38 records)
Data Summary: Results (300)    Tissues (104)    Images (27)
Theiler Stages: 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	38
RNA in situ	211
Western blot	5
RT-PCR	46

cDNA source data(262)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(266) cDNA(265) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000006276 (Evidence)
Ensembl Gene Model	ENSMUSG00000001552 (Evidence)
Entrez Gene	16480 (Evidence)
UniGene	299774
DFCI	TC1572492, TC1613857
DoTS	DT.55212740, DT.91593022, DT.94126436, DT.94246154, DT.94336103
NIA Mouse Gene Index	U033422
Consensus CDS Project	CCDS25420.1
International Mouse Knockout Project Status	Jup

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006276	VEGA Gene Model | MGI Sequence Detail	28806	C57BL/6J
transcript	OTTMUST00000014199	VEGA | MGI Sequence Detail	3205	Not Applicable
polypeptide	OTTMUSP00000006595	VEGA | MGI Sequence Detail	745	Not Applicable

All sequences(49) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(2) : SNPs(71 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000225	Armadillo
InterPro	IPR011989	Armadillo-like helical
InterPro	IPR016024	Armadillo-type fold
InterPro	IPR013284	Beta-catenin
Protein Ontology	PR:000009235	junction plakoglobin

References

(Earliest) J:37381 Cowin P, et al., Plakoglobin: a protein common to different kinds of intercellular adhering junctions. Cell. 1986 Sep 26;46(7):1063-73
(Latest) J:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43
All references(107)

Other accession IDs

MGD-MRK-11544, MGI:2144342, MGI:2144558