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Pnkp Gene Detail
Summary
  • Symbol
    Pnkp
  • Name
    polynucleotide kinase 3'- phosphatase
  • Synonyms
    1810009G08Rik, PNK
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891698
    NCBI Gene: 59047
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:44506563-44512416 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 28.94 cM, cytoband B2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    194 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891698
 protein coding gene Chr7:44505903-44514761 (+)
129S1/SvImJ ENSMUSG00200022494
 protein coding gene Chr7:32102247-32108092 (+)
A/J ENSMUSG00195037605
 protein coding gene Chr7:36130317-36136160 (+)
AKR/J ENSMUSG00220007336
 protein coding gene Chr7:30435280-30441115 (+)
BALB/cJ ENSMUSG00180036499
 protein coding gene Chr7:33005710-33011553 (+)
C3H/HeJ ENSMUSG00175031394
 protein coding gene Chr7:33538177-33544021 (+)
C57BL/6NJ ENSMUSG00215043830
 protein coding gene Chr7:32799335-32805169 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029679
 protein coding gene Chr7:46791094-46796833 (+)
CAST/EiJ ENSTCUG00005046286
 protein coding gene Chr7:36515539-36521265 (+)
CBA/J ENSMUSG00210048484
 protein coding gene Chr7:33909543-33915386 (+)
DBA/2J ENSMUSG00185045476
 protein coding gene Chr7:37782173-37788016 (+)
FVB/NJ ENSMUSG00205021612
 protein coding gene Chr7:33454874-33460708 (+)
JF1/MsJ ENSUMUG00000018068
 protein coding gene Chr7:42270379-42276167 (+)
LP/J ENSMUSG00230051503
 protein coding gene Chr7:43211491-43217313 (+)
NOD/ShiLtJ ENSMUSG00190028127
 protein coding gene Chr7:33782635-33788469 (+)
NZO/HlLtJ ENSMUSG00225014160
 protein coding gene Chr7:41420077-41425899 (+)
PWK/PhJ ENSLUMG00010039483
 protein coding gene Chr7:32738856-32744628 (+)
SPRET/EiJ ENSMSPG00010041262
 protein coding gene Chr7:32514900-32520398 (+)
WSB/EiJ ENSIUOG00005023007
 protein coding gene Chr7:34326054-34331900 (+)



Homology
more
  • Human Ortholog
    PNKP, polynucleotide kinase 3'-phosphatase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PNKP, polynucleotide kinase 3'-phosphatase
  • Synonyms
    AOA4, CMT2B2, EIEE10, MCSZ, PNK
  • Links
    NCBI Gene ID: 11284
    UniProt: Q96T60

  • Chr Location
    19q13.33; chr19:49859882-49878351 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human PNKP associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 4 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    13 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.
Homozygotes for a frame-shift allele are embryonic lethal. Homozygotes for a hypomorphic allele exhibit smaller brain (cortex and cerebellum) and defects in both single- and double-strand DNA break repair associated with increased brain apoptosis and decreased proliferation in cortical progenitors.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    9
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
    613
  • Tissues
    6
  • cDNA Data
    15
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000002963 Ensembl Gene Model | MGI Sequence Detail 5854 C57BL/6J ±  kb
    transcript ENSMUST00000107876 Ensembl | MGI Sequence Detail 1770 Not Applicable  
    polypeptide ENSMUSP00000103508 Ensembl | MGI Sequence Detail 522 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 15
      Antibodies 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1923601
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 3
      Gene Ontology 9
      Phenotypes 13
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory