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Dfnb59
Gene Detail
Symbol

Name
ID
Dfnb59
deafness, autosomal recessive 59 (human)
MGI:2685847
Synonyms
LOC381375, pejvakin
Feature Type
protein coding gene
Genetic Map
Chromosome 2
45.08 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr2:76648476-76658556 bp, + strand
From VEGA annotation of GRCm38

  10081 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:19773  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Dfnb59

Human
homologs
Human Homolog DFNB59, deafness, autosomal recessive 59
NCBI Gene ID 494513
neXtProt AC  NX_Q0ZLH3
Human Synonyms  PJVK
Human Chr (Location)  2q31.2; chr2:178451436-178461422 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human DFNB59
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(1) Gene trapped(2) Targeted(3)
Genomic Mutations involving Dfnb59 (2)
Incidental mutations (data from APF )
 
Mice homozygous for a point mutation display increased auditory thresholds.
 
Human Diseases Modeled Using Mouse Dfnb59 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process sensory perception of sound
Component neuronal cell body
Function molecular_function
Expression
cDNA source data(3)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(4) cDNA(3) Other(1)
Microarray probesets(1)
Other database
links
VEGA Gene ModelOTTMUSG00000013131 (Evidence)
Ensembl Gene ModelENSMUSG00000075267 (Evidence)
Entrez Gene381375 (Evidence)
UniGene330312
DFCITC1675569
DoTSDT.97345736
NIA Mouse Gene IndexU152105
Consensus CDS ProjectCCDS38153.1
International Mouse Knockout Project StatusDfnb59
Sequences
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 sequences
All sequences(34) RefSeq(10) UniProt(3)
Polymorphisms
SNPs within 2kb(69 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007677 Gasdermin
Protein Ontology PR:000012768 pejvakin
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: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
All references(22)
Disease annotation references (1)

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
10/08/2014
MGI 5.20
The Jackson Laboratory