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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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:74284930-74353694 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 38.53 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    284 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1930773
protein coding gene Chr1:74284599-74353694 (.)
129S1/SvImJ MGP_129S1SvImJ_G0016146
protein coding gene Chr1:74872875-74947566 (+)
A/J MGP_AJ_G0016129
protein coding gene Chr1:72252444-72324786 (+)
AKR/J MGP_AKRJ_G0016086
protein coding gene Chr1:74263640-74336124 (+)
BALB/cJ MGP_BALBcJ_G0016084
protein coding gene Chr1:72325109-72394299 (+)
C3H/HeJ MGP_C3HHeJ_G0015915
protein coding gene Chr1:74593482-74666661 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016537
protein coding gene Chr1:77780348-77859412 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014258
protein coding gene Chr1:67836948-67909705 (+)
CAST/EiJ MGP_CASTEiJ_G0015499
protein coding gene Chr1:73905414-73984367 (+)
CBA/J MGP_CBAJ_G0015888
protein coding gene Chr1:80304220-80386227 (+)
DBA/2J MGP_DBA2J_G0015989
protein coding gene Chr1:71589099-71658301 (+)
FVB/NJ MGP_FVBNJ_G0015992
protein coding gene Chr1:70763324-70837295 (+)
LP/J MGP_LPJ_G0016061
protein coding gene Chr1:75975551-76049576 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016012
protein coding gene Chr1:83724927-83807019 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016584
protein coding gene Chr1:74322323-74401604 (+)
PWK/PhJ MGP_PWKPhJ_G0015286
protein coding gene Chr1:71031430-71106431 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015064
protein coding gene Chr1:73687478-73768623 (+)
WSB/EiJ MGP_WSBEiJ_G0015561
protein coding gene Chr1:74125012-74197209 (+)



Homology
more
  • Human Ortholog
    PNKD, PNKD, MBL domain containing
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PNKD, PNKD, MBL domain containing
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR1, MR-1, MR-1S, PDC, PKND1, PNKD1, TAHCCP2
  • Links
    NCBI Gene ID: 25953
    neXtProt AC: NX_Q8N490
    UniProt: Q8N490

  • Chr Location
    2q35; chr2:218270392-218346793 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 75045
    1 human;1 mouse;1 rat;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
      
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
    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
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.
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
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
Interactions
less
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 44
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 6
    Phenotypes 15
  • 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: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
11/06/2018
MGI 6.13
The Jackson Laboratory