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Pkp3 Gene Detail
Summary
  • Symbol
    Pkp3
  • Name
    plakophilin 3
  • Synonyms
    2310056L12Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891830
    NCBI Gene: 56460
  • Gene Overview
    MyGene.info: PKP3
Location & Maps
more
  • Sequence Map
    Chr7:141078218-141090510 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12293 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PKP3, plakophilin 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PKP3, plakophilin 3
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 11187
    neXtProt AC: NX_Q9Y446

  • Chr Location
    11p15; chr11:392599-404908 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 5200
    1 human;1 mouse;1 rat;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: PKP3
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 2 alleles in 2 genetic backgrounds
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Pkp3
  • Incidental Mutations
Mice homozygous for a null allele exhibit retarded hair growth, epidermal thickening and abnormal hair follicles that lead to secondary alopecia and acute dermatitis.
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
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028871 VEGA Gene Model | MGI Sequence Detail 12293 C57BL/6J ±  kb
transcript OTTMUST00000071509 VEGA | MGI Sequence Detail 2919 Not Applicable  
polypeptide OTTMUSP00000036647 VEGA | MGI Sequence Detail 822 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    41 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 95
    cDNA 95

    Microarray probesets 5
Other
Accession IDs
less
MGI:1917432
References
more
  • Summaries
    All 34
    Developmental Gene Expression 5
    Gene Ontology 6
    Phenotypes 6
  • Earliest
    J:64912 Bonne S, et al., Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells. J Cell Sci. 1999 Jul;112(Pt 14):2265-76
  • 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

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
04/26/2016
MGI 6.03
The Jackson Laboratory