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Dfnb59 Gene Detail
Summary
  • Symbol
    Dfnb59
  • Name
    deafness, autosomal recessive 59 (human)
  • Synonyms
    LOC381375, pejvakin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685847
    NCBI Gene: 381375
Location & Maps
more
  • Sequence Map
    Chr2:76648476-76658556 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10081 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 45.08 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    DFNB59, deafness, autosomal recessive 59
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DFNB59, deafness, autosomal recessive 59
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PJVK
  • Links
    NCBI Gene ID: 494513
    neXtProt AC: NX_Q0ZLH3

  • Chr Location
    2q31.2; chr2:178450592-178461390 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Dfnb59 mouse models; 1 with human DFNB59 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 59; DFNB59   OMIM: 610220 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
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    9 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.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Targeted
    3
  • Genomic Mutations
    3 involving Dfnb59
  • Incidental Mutations
    APF
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 OTTMUSG00000013131 VEGA Gene Model | MGI Sequence Detail 10081 C57BL/6J ±  kb
transcript OTTMUST00000031696 VEGA | MGI Sequence Detail 1219 Not Applicable  
polypeptide OTTMUSP00000014124 VEGA | MGI Sequence Detail 352 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    72 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 4
    cDNA 3
    Other 1

    Microarray probesets 1
References
more
  • Summaries
    All 18
    Diseases 1
    Gene Ontology 2
    Phenotypes 9
  • 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:193334 Xiong W, et al., TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012 Dec 7;151(6):1283-95

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
08/17/2016
MGI 6.05
The Jackson Laboratory