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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
  • Alliance
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:140658202-140670424 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 7, 86.34 cM, cytoband F5
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    298 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891830
protein coding gene Chr7:140658131-140670424 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033209
protein coding gene Chr7:146242940-146260223 (+)
A/J MGP_AJ_G0033191
protein coding gene Chr7:142066937-142078991 (+)
AKR/J MGP_AKRJ_G0033123
protein coding gene Chr7:145982302-145995085 (+)
BALB/cJ MGP_BALBcJ_G0033192
protein coding gene Chr7:141806243-141820311 (+)
C3H/HeJ MGP_C3HHeJ_G0032906
protein coding gene Chr7:145731837-145745465 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033703
protein coding gene Chr7:151592382-151610325 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030676
protein coding gene Chr7:143278646-143290343 (+)
CAST/EiJ MGP_CASTEiJ_G0032236
protein coding gene Chr7:138035988-138049338 (+)
CBA/J MGP_CBAJ_G0032878
protein coding gene Chr7:156706423-156719023 (+)
DBA/2J MGP_DBA2J_G0033030
protein coding gene Chr7:140015100-140028301 (+)
FVB/NJ MGP_FVBNJ_G0032983
protein coding gene Chr7:139918480-139930937 (+)
LP/J MGP_LPJ_G0033125
protein coding gene Chr7:147733377-147745975 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033016
protein coding gene Chr7:157388892-157402726 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033723
protein coding gene Chr7:144960812-144974769 (+)
PWK/PhJ MGP_PWKPhJ_G0031940
protein coding gene Chr7:133285839-133302943 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031787
protein coding gene Chr7:131771990-131786727 (+)
WSB/EiJ MGP_WSBEiJ_G0032347
protein coding gene Chr7:145905126-145921349 (+)



Homology
more
  • Human Ortholog
    PKP3, plakophilin 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKP3, plakophilin 3
  • Links
    NCBI Gene ID: 11187
    neXtProt AC: NX_Q9Y446
    UniProt: Q9Y446

  • Chr Location
    11p15.5; chr11:392596-404908 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 2 alleles in 2 genetic backgrounds
    12 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56460 NCBI Gene Model | MGI Sequence Detail 12223 C57BL/6J ±  kb
    transcript NM_019762 RefSeq | MGI Sequence Detail 2857 C57BL/6  
    polypeptide Q9QY23 UniProt | EBI | MGI Sequence Detail 797 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 97
      cDNA 96
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1917432
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 8
      Gene Ontology 16
      Phenotypes 12
    • 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:352393 Muller L, et al., Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling. Cell Rep. 2023 Jan 31;42(1):112031

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    11/05/2024
    MGI 6.24
    The Jackson Laboratory