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Pnkd Gene Detail
Summary
  • Symbol
    Pnkd
  • Name
    paroxysmal nonkinesiogenic dyskinesia
  • Synonyms
    2210013N15Rik, 2810403H05Rik, Brp17
  • Feature Type
    protein coding gene
  • IDs
    MGI:1930773
    NCBI Gene: 56695
  • Gene Overview
    MyGene.info: PNKD
Location & Maps
more
  • Sequence Map
    Chr1:74284930-74353694 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68765 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 38.53 cM, cytoband C3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PNKD, paroxysmal nonkinesigenic dyskinesia
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PNKD, paroxysmal nonkinesigenic dyskinesia
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR1, MR-1, PDC, PKND1, TAHCCP2
  • Links
    NCBI Gene ID: 25953
    neXtProt AC: NX_Q8N490

  • Chr Location
    2q35; chr2:218270392-218346793 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 75045
    1 human;1 mouse;1 rat;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: PNKD
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pnkd mouse models; 1 with human PNKD associations

Human Disease Mouse Models
       Paroxysmal Nonkinesigenic Dyskinesia 1; PNKD1   OMIM: 118800 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 4 alleles in 4 genetic backgrounds
    15 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.
  • All Mutations and Alleles
    27
  • Chemically induced (other)
    1
  • Gene trapped
    18
  • Radiation induced
    1
  • Targeted
    4
  • Transgenic
    3
  • Genomic Mutations
    2 involving Pnkd
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit decreased levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) and lower DOPAC/dopamine ratios after injection of caffeine or ethanol.
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 OTTMUSG00000021729 VEGA Gene Model | MGI Sequence Detail 68765 C57BL/6J ±  kb
transcript OTTMUST00000051554 VEGA | MGI Sequence Detail 3054 Not Applicable  
polypeptide OTTMUSP00000024292 VEGA | MGI Sequence Detail 424 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    284 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • EC
  • InterPro Domains
    IPR017782 Hydroxyacylglutathione hydrolase
    IPR032282 Hydroxyacylglutathione hydrolase, C-terminal domain
    IPR001279 Metallo-beta-lactamase
    IPR031833 Protein of unknown function DUF4748
Molecular
Reagents
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  • All nucleic 110
    cDNA 110

    Microarray probesets 6
Other
Accession IDs
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MGI:1913716, MGI:1924205, MGI:2146944
References
more
  • Summaries
    All 39
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 7
    Phenotypes 15
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:220316 Shen Y, et al., Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. Proc Natl Acad Sci U S A. 2015 Mar 10;112(10):2935-41

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
09/13/2016
MGI 6.05
The Jackson Laboratory