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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

HCOP human homology predictions: DFNB59
Gene Tree: Dfnb59

Human
homologs
DFNB59, deafness, autosomal recessive 59
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 494513
neXtProt AC: NX_Q0ZLH3

Human Synonyms: PJVK

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

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 in Mice Using Dfnb59 (1)    Mutations 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase dfnb59    NEW 
Molecular
reagents
All nucleic(4) cDNA(3) Other(1)
Microarray probesets(1)
Other database
links
VEGA Gene Model OTTMUSG00000013131 (Evidence)
Ensembl Gene Model ENSMUSG00000075267 (Evidence)
Entrez Gene 381375 (Evidence)
UniGene 330312
DFCI TC1675569
DoTS DT.97345736
NIA Mouse Gene Index U152105
Consensus CDS Project CCDS38153.1
International Mouse Phenotyping Consortium Status Dfnb59
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(21)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory