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Prkn Gene Detail
Summary
  • Symbol
    Prkn
  • Name
    parkin RBR E3 ubiquitin protein ligase
  • Synonyms
    Park2, Parkin, PRKN
  • Feature Type
    protein coding gene
  • IDs
    MGI:1355296
    NCBI Gene: 50873
  • Gene Overview
    MyGene.info: PRKN
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:10840384-12063361 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 7.80 cM, cytoband A3.2-A3.3
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    9160 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1355296
protein coding gene Chr17:10840359-12063370 (.)
129S1/SvImJ MGP_129S1SvImJ_G0023142
protein coding gene Chr17:8446192-9692979 (+)
A/J MGP_AJ_G0023110
protein coding gene Chr17:8347826-9553239 (+)
AKR/J MGP_AKRJ_G0023074
protein coding gene Chr17:8107678-9367040 (+)
BALB/cJ MGP_BALBcJ_G0023110
protein coding gene Chr17:8127696-9325055 (+)
C3H/HeJ MGP_C3HHeJ_G0022873
protein coding gene Chr17:8378633-9622459 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023553
protein coding gene Chr17:8776965-10092350 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021055
protein coding gene Chr17:4884990-6067955 (-)
CAST/EiJ MGP_CASTEiJ_G0022387
protein coding gene Chr17:8415765-9674184 (+)
CBA/J MGP_CBAJ_G0022845
protein coding gene Chr17:9113418-10453556 (+)
DBA/2J MGP_DBA2J_G0022978
protein coding gene Chr17:7986258-9183620 (+)
FVB/NJ MGP_FVBNJ_G0022948
protein coding gene Chr17:7935913-9128340 (+)
LP/J MGP_LPJ_G0023050
protein coding gene Chr17:8241367-9517347 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022967
protein coding gene Chr17:8777182-10090661 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023579
protein coding gene Chr17:8396581-9638933 (+)
PWK/PhJ MGP_PWKPhJ_G0022135
protein coding gene Chr17:7678479-8880334 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021965
protein coding gene Chr17:7749104-9032689 (+)
WSB/EiJ MGP_WSBEiJ_G0022444
protein coding gene Chr17:8707625-9966574 (+)



Homology
more
  • Human Ortholog
    PRKN, parkin RBR E3 ubiquitin protein ligase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PRKN, parkin RBR E3 ubiquitin protein ligase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AR-JP, LPRS2, PARK2, PDJ
  • Links
    NCBI Gene ID: 5071
    neXtProt AC: NX_O60260
    UniProt: O60260

  • Chr Location
    6q26; chr6:161347417-162727802 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Prkn mouse models; 4 with human PRKN associations

Human Disease Mouse Models
      
IDs
View 10 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    49 phenotypes from 8 alleles in 11 genetic backgrounds
    24 phenotypes from multigenic genotypes
    1 images
    189 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.
Dopamine and glutatamate transmission are impaired in some targeted null mice, resulting in decreased exploratory behavior. These mice show decreased body weight and temperature. Park2 is inactivated as part of a large deletion in the quaking mouse, a dysmyelinating mutant with a pronounced tremor.
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 death
cell differentiation
cell population 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 ENSMUSG00000023826 Ensembl Gene Model | MGI Sequence Detail 1222978 C57BL/6J ±  kb
    transcript ENSMUST00000191124 Ensembl | MGI Sequence Detail 3202 Not Applicable  
    polypeptide ENSMUSP00000140587 Ensembl | MGI Sequence Detail 464 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 5
      cDNA 10
      Primer pair 3
      Other 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 277
      Developmental Gene Expression 9
      Diseases 7
      Gene Ontology 30
      Phenotypes 189
    • Earliest
      J:13141 SIDMAN RL, et al., MUTANT MICE (QUAKING AND JIMPY) WITH DEFICIENT MYELINATION IN THE CENTRAL NERVOUS SYSTEM. Science. 1964 Apr 17;144:309-11
    • Latest
      J:267014 Williams ET, et al., Parkin mediates the ubiquitination of VPS35 and modulates retromer-dependent endosomal sorting. Hum Mol Genet. 2018 Sep 15;27(18):3189-3205

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory