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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
Location & Maps
more
  • Sequence Map
    Chr16:16213318-16272712 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      59395 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 10.09 cM, cytoband B1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PKP2, plakophilin 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PKP2, plakophilin 2
    Orthology source: HomoloGene
  • Synonyms
    ARVD9
  • Links
    NCBI Gene ID: 5318
    neXtProt AC: NX_Q99959

  • Chr Location
    12p11; chr12:32790746-32896846 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Arrhythmogenic Right Ventricular Dysplasia, Familial, 9; ARVD9   OMIM: 609040
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    2 images
    6 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
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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 OTTMUSG00000021016 VEGA Gene Model | MGI Sequence Detail 59395 C57BL/6J ±  kb
transcript OTTMUST00000049682 VEGA | MGI Sequence Detail 2918 Not Applicable  
polypeptide OTTMUSP00000023065 VEGA | MGI Sequence Detail 795 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    204 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 52
    cDNA 52

    Microarray probesets 8
Other
Accession IDs
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MGI:1328349, MGI:1918991, MGI:2146346
References
more
  • Summaries
    All 37
    Developmental Gene Expression 5
    Gene Ontology 8
    Phenotypes 6
  • 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:219313 Cerrone M, et al., Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. Circulation. 2014 Mar 11;129(10):1092-103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory