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 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; chr2:179316163-179326113 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human DFNB59

Alleles and phenotypes

All alleles(4) : Targeted(1) Gene trapped(2) Chemically induced(1)
 

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   ArrayExpress

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 Knockout Project Status	Dfnb59

Sequences

Length	Strain/Species
genomic	OTTMUSG00000013131	VEGA Gene Model | MGI Sequence Detail	10081	C57BL/6J
transcript	OTTMUST00000031696	VEGA | MGI Sequence Detail	1219	Not Applicable
polypeptide	OTTMUSP00000014124	VEGA | MGI Sequence Detail	352	Not Applicable

All sequences(27) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(46 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)