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Pkp2 Gene Detail
Summary
  • Symbol
    Pkp2
  • Name
    plakophilin 2
  • Synonyms
    1200008D14Rik, 1200012P04Rik, Pkp2l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914701
    NCBI Gene: 67451
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:16031209-16090576 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 10.09 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1427 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914701
 protein coding gene Chr16:16031182-16090576 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022555
 protein coding gene Chr16:13316934-13376721 (+)
A/J MGP_AJ_G0022516
 protein coding gene Chr16:12616706-12678464 (+)
AKR/J MGP_AKRJ_G0022493
 protein coding gene Chr16:13123725-13189294 (+)
BALB/cJ MGP_BALBcJ_G0022521
 protein coding gene Chr16:12785785-12845050 (+)
C3H/HeJ MGP_C3HHeJ_G0022288
 protein coding gene Chr16:13221576-13282887 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022970
 protein coding gene Chr16:13483364-13543930 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020490
 protein coding gene Chr16:12706092-12768903 (+)
CAST/EiJ MGP_CASTEiJ_G0021815
 protein coding gene Chr16:13162034-13220698 (+)
CBA/J MGP_CBAJ_G0022257
 protein coding gene Chr16:14102040-14163925 (+)
DBA/2J MGP_DBA2J_G0022389
 protein coding gene Chr16:12565654-12625768 (+)
FVB/NJ MGP_FVBNJ_G0022364
 protein coding gene Chr16:12602718-12662074 (+)
LP/J MGP_LPJ_G0022456
 protein coding gene Chr16:13107035-13165774 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022386
 protein coding gene Chr16:13785738-13844843 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022983
 protein coding gene Chr16:13069017-13129566 (+)
PWK/PhJ MGP_PWKPhJ_G0021557
 protein coding gene Chr16:12792204-12851597 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021385
 protein coding gene Chr16:13057281-13120749 (+)
WSB/EiJ MGP_WSBEiJ_G0021863
 protein coding gene Chr16:13076330-13136691 (+)



Homology
more
  • Human Ortholog
    PKP2, plakophilin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKP2, plakophilin 2
  • Synonyms
    ARVD9
  • Links
    NCBI Gene ID: 5318
    neXtProt AC: NX_Q99959
    UniProt: Q99959

  • Chr Location
    12p11.21; chr12:32790745-32896798 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human PKP2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    2 images
    21 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.
Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    79
  • GO References
    14
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
    716
  • Tissues
    7
  • cDNA Data
    52
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67451 NCBI Gene Model | MGI Sequence Detail 59368 C57BL/6J ±  kb
    transcript NM_026163 RefSeq | MGI Sequence Detail 2891 C57BL/6  
    polypeptide Q9CQ73 UniProt | EBI | MGI Sequence Detail 795 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 52
      Primer pair 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1328349, MGI:1918991, MGI:2146346
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 11
      Gene Ontology 14
      Phenotypes 21
    • Earliest
      J:51903 Gallicano GI, et al., Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol. 1998 Dec 28;143(7):2009-22
    • Latest
      J:340865 Lluch A, et al., Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence. Nat Commun. 2023 Aug 22;14(1):5106
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory