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Dfnb59 Gene Detail
 Symbol
Name
ID
Dfnb59
deafness, autosomal recessive 59 (human)
MGI:2685847


Nomenclature History
Synonyms LOC381375, pejvakin
Genetic Map
Chromosome 2
Syntenic
 
Mapping data( 1)
Sequence Map
Chr2:76486533-76496613 bp, + strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
TreeFam: TF352821
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000013131 VEGA Gene Model | MGI Sequence Detail 10081 C57BL/6J ± Kb
transcript NM_001080711 RefSeq | MGI Sequence Detail 1219 -
polypeptide Q0ZLH2 UniProt | EBI | MGI Sequence Detail 352 Not Applicable
For the selected sequences
All sequences(9)
Alleles
and
phenotypes
All alleles(4) : Targeted, other(1) Gene trapped(2) Chemically induced(1)
Mice homozygous for a point mutation display increased auditory thresholds.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)  
Polymorphisms SNPs within 2kb(50 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(4)
Process sensory perception of sound
Component cell soma
Function molecular_function
Expression cDNA source data(2)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(2) cDNA(2)
Microarray probesets(1)
Other database
links
Ensembl Gene Model ENSMUSG00000075267
UniGene 330312
NIA Mouse Gene Index U152105
Entrez Gene 381375
VEGA Gene Model OTTMUSG00000013131
International Mouse Knockout Project Status Dfnb59
Protein
domains
InterPro ID Description
IPR007677 DFNA5 protein
Graphical View of Protein Domain Structure
References
(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:119820 Schwander M et al., "A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function." J Neurosci 2007 Feb 28;27(9):2163-75
All references(3)

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
11/20/2009
MGI_4.31
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The Jackson Laboratory