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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
    12 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
    10
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    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
Expression
less
  • 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 27
    Diseases 1
    Gene Ontology 4
    Phenotypes 12
  • 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:243147 Harris SL, et al., Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice. Neuroscience. 2017 Mar 06;344:380-393

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