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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
  • Gene Overview
    MyGene.info: PKP2
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:16213345-16272712 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 10.09 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    204 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 Chr16:16213318-16272712 (.)
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
    9
  • Human Ortholog
    PKP2, plakophilin 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARVD9
  • Links
    NCBI Gene ID: 5318
    neXtProt AC: NX_Q99959
    UniProt: Q99959

  • Chr Location
    12p11.21; chr12:32790746-32896846 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3364
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: PKP2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PKP2 associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    12 phenotypes from multigenic genotypes
    2 images
    7 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • 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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Interactions
    less
    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 NP_080439 RefSeq | MGI Sequence Detail 795 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 52

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1328349, MGI:1918991, MGI:2146346
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 10
      Phenotypes 7
    • 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:247755 Cerrone M, et al., Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm. Nat Commun. 2017 Jul 24;8(1):106

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory