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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:74324089-74392853 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 38.53 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1932 from dbSNP Build 142
  • Strain Annotations
    26
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1930773
 protein coding gene Chr1:74323757-74392853 (+)
129S1/SvImJ ENSMUSGG00200054624
 protein coding gene Chr1:72034499-72055834 (+)
129S1/SvImJ ENSMUSG00200031056
 protein coding gene Chr1:71987017-71989542 (+)
A/J ENSMUSGG00195054915
 protein coding gene Chr1:71459286-71480612 (+)
A/J ENSMUSG00195008155
 protein coding gene Chr1:71411913-71414437 (+)
AKR/J ENSMUSGG00220054745
 protein coding gene Chr1:71605198-71626530 (+)
AKR/J ENSMUSG00220010241
 protein coding gene Chr1:71557702-71560228 (+)
BALB/cJ ENSMUSG00180016699
 protein coding gene Chr1:71670769-71673294 (+)
BALB/cJ ENSMUSGG00180055342
 protein coding gene Chr1:71718449-71739527 (+)
C3H/HeJ ENSMUSGG00175054770
 protein coding gene Chr1:71859683-71881007 (+)
C3H/HeJ ENSMUSG00175014829
 protein coding gene Chr1:71812301-71814828 (+)
C57BL/6NJ ENSMUSG00215014600
 protein coding gene Chr1:71716071-71718596 (+)
C57BL/6NJ ENSMUSGG00215055631
 protein coding gene Chr1:71763581-71784919 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014258
 protein coding gene Chr1:67836948-67909705 (+)
CAST/EiJ no annotation
CBA/J ENSMUSG00210032847
 protein coding gene Chr1:71496533-71499057 (+)
CBA/J ENSMUSGG00210055013
 protein coding gene Chr1:71543901-71565237 (+)
DBA/2J ENSMUSGG00185057809
 protein coding gene Chr1:72637850-72659178 (+)
DBA/2J ENSMUSG00185028973
 protein coding gene Chr1:72590363-72592888 (+)
FVB/NJ ENSMUSG00205031119
 protein coding gene Chr1:71165678-71168203 (+)
FVB/NJ ENSMUSGG00205054618
 protein coding gene Chr1:71213182-71234522 (+)
JF1/MsJ no annotation
LP/J ENSMUSG00230010902
 protein coding gene Chr1:72580200-72582725 (+)
LP/J ENSMUSGG00230055814
 protein coding gene Chr1:72627686-72649025 (+)
NOD/ShiLtJ ENSMUSGG00190054771
 protein coding gene Chr1:71769736-71791203 (+)
NOD/ShiLtJ ENSMUSG00190032168
 protein coding gene Chr1:71722779-71725302 (+)
NZO/HlLtJ ENSMUSGG00225055256
 protein coding gene Chr1:75842982-75864059 (+)
NZO/HlLtJ ENSMUSG00225039551
 protein coding gene Chr1:75795317-75797842 (+)
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    PNKD, PNKD metallo-beta-lactamase domain containing
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PNKD, PNKD metallo-beta-lactamase domain containing
  • Synonyms
    BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, MR-1S, PDC, PKND1, PNKD1, R1, TAHCCP2
  • Links
    NCBI Gene ID: 25953
    UniProt: Q8N490

  • Chr Location
    2q35; chr2:218269651-218346793 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pnkd mouse models; 1 with human PNKD associations

Human Disease Mouse Models
      
IDs
 View 2 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
    8 phenotypes from 4 alleles in 4 genetic backgrounds
    22 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.
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
less
  • All GO Annotations
    31
  • GO References
    10
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
    639
  • Tissues
    28
  • cDNA Data
    111
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000026179 Ensembl Gene Model | MGI Sequence Detail 68765 C57BL/6J ±  kb
transcript ENSMUST00000087226 Ensembl | MGI Sequence Detail 3054 Not Applicable  
polypeptide ENSMUSP00000084478 Ensembl | MGI Sequence Detail 424 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 111
    cDNA 111

    Microarray probesets 6
Other
Accession IDs
less
MGI:1913716, MGI:1924205, MGI:2146944
References
more
  • Summaries
    All 57
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 10
    Phenotypes 22
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:378330 Zhao W, et al., Myofibrillogenesis Regulator-1 Regulates the Ubiquitin Lysosomal Pathway of Notch3 Intracellular Domain Through E3 Ubiquitin-Protein Ligase Itchy Homolog in the Metastasis of Non-Small Cell Lung Cancer. Adv Sci (Weinh). 2024 Apr;11(15):e2306472
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory