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Jup Gene Detail
Summary
  • Symbol
    Jup
  • Name
    junction plakoglobin
  • Synonyms
    Ctnng, D930025P04Rik, gamma-catenin, PG, plakoglobin
  • Feature Type
    protein coding gene
  • IDs
    MGI:96650
    NCBI Gene: 16480
  • Gene Overview
    MyGene.info: JUP
Location & Maps
more
  • Sequence Map
    Chr11:100368958-100397763 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28806 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 63.47 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    JUP, junction plakoglobin
  • Vertebrate Orthologs
    11
  • Human Ortholog
    JUP, junction plakoglobin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ARVD12, CTNNG, DP3, DPIII, PDGB, PKGB
  • Links
    NCBI Gene ID: 3728
    neXtProt AC: NX_P14923

  • Chr Location
    17q21; chr17:41754607-41786712 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Jup mouse models; 2 with human JUP associations

Human Disease Mouse Models
       Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; ARVD12   OMIM: 611528 View 4 models
Naxos Disease; NXD   OMIM: 601214 View 1 model
       Epidermolytic Hyperkeratosis; EHK   OMIM: 113800 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    85 phenotypes from 8 alleles in 10 genetic backgrounds
    14 phenotypes from multigenic genotypes
    3 images
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    236
  • Gene trapped
    217
  • Targeted
    13
  • Transgenic
    6
  • Genomic Mutations
    1 involving Jup
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006276 VEGA Gene Model | MGI Sequence Detail 28806 C57BL/6J ±  kb
transcript OTTMUST00000014199 VEGA | MGI Sequence Detail 3205 Not Applicable  
polypeptide OTTMUSP00000006595 VEGA | MGI Sequence Detail 745 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    103 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 15
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-11544, MGI:2144342, MGI:2144558
References
more
  • Summaries
    All 115
    Developmental Gene Expression 45
    Diseases 7
    Gene Ontology 23
    Phenotypes 31
  • 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:231303 Cordi S, et al., Role of beta-catenin in development of bile ducts. Differentiation. 2016 Jan-Mar;91(1-3):42-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory