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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
    gene 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
    18
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 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 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
    neXtProt AC: NX_Q8N490
    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
    20 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
    16
  • GO References
    8
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
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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
    748
  • 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 51
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 8
    Phenotypes 20
  • 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:354986 Kumar S, et al., Etiology of craniofacial and cardiac malformations in a mouse model of SF3B4-related syndromes. Proc Natl Acad Sci U S A. 2024 Sep 24;121(39):e2405523121
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
12/10/2024
MGI 6.24 		The Jackson Laboratory