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Pjvk Gene Detail
Summary
  • Symbol
    Pjvk
  • Name
    pejvakin
  • Synonyms
    Dfnb59, LOC381375, pejvakin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685847
    NCBI Gene: 381375
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:76650273-76658554 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 45.08 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    72 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685847
protein coding gene Chr2:76648476-76658556 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025867
protein coding gene Chr2:77043244-77053351 (+)
A/J MGP_AJ_G0025844
protein coding gene Chr2:74055748-74065801 (+)
AKR/J MGP_AKRJ_G0025813
protein coding gene Chr2:76045891-76055899 (+)
BALB/cJ MGP_BALBcJ_G0025839
protein coding gene Chr2:74230237-74240321 (+)
C3H/HeJ MGP_C3HHeJ_G0025599
protein coding gene Chr2:76251107-76261119 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026286
protein coding gene Chr2:79327656-79338984 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023689
protein coding gene Chr2:71459498-71469335 (+)
CAST/EiJ MGP_CASTEiJ_G0025061
protein coding gene Chr2:76590816-76599658 (+)
CBA/J MGP_CBAJ_G0025580
protein coding gene Chr2:82264057-82274072 (+)
DBA/2J MGP_DBA2J_G0025711
protein coding gene Chr2:73643914-73654010 (+)
FVB/NJ MGP_FVBNJ_G0025673
protein coding gene Chr2:73036412-73046381 (+)
LP/J MGP_LPJ_G0025799
protein coding gene Chr2:76927209-76937302 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025704
protein coding gene Chr2:84086414-84096793 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026342
protein coding gene Chr2:76171976-76181920 (+)
PWK/PhJ MGP_PWKPhJ_G0024804
protein coding gene Chr2:73605485-73615702 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024610
protein coding gene Chr2:76421529-76432116 (+)
WSB/EiJ MGP_WSBEiJ_G0025130
protein coding gene Chr2:76639514-76652164 (+)



Homology
more
  • Human Ortholog
    PJVK, pejvakin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PJVK, pejvakin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DFNB59
  • Links
    NCBI Gene ID: 494513
    neXtProt AC: NX_Q0ZLH3
    UniProt: Q0ZLH3

  • Chr Location
    2q31.2; chr2:178450592-178461390 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 19773
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PJVK
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pjvk mouse models; 1 with human PJVK associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    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.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    1
  • Gene trapped
    2
  • Targeted
    6
  • Genomic Mutations
    3 involving Pjvk
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
Mice homozygous for a point mutation display increased auditory thresholds.
Gene Ontology
(GO)
Classifications
less
  • 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 population 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
  • cDNA Data
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 381375 NCBI Gene Model | MGI Sequence Detail 8282 C57BL/6J ±  kb
transcript NM_001080711 RefSeq | MGI Sequence Detail 1217 C57BL/6  
polypeptide Q0ZLH2 UniProt | EBI | MGI Sequence Detail 352 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 4
    cDNA 4

    Microarray probesets 1
References
more
  • Summaries
    All 28
    Diseases 1
    Gene Ontology 7
    Phenotypes 15
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:273835 Defourny J, et al., Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):8010-8017

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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last database update
10/20/2020
MGI 6.16
The Jackson Laboratory