Gene: DFNB59 (deafness, autosomal recessive 59)  Homo sapiens

Symbol: DFNB59
Name: deafness, autosomal recessive 59
Description: The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: autosomal recessive deafness type 59 protein; OTTHUMP00000205645; OTTHUMP00000205647; OTTHUMP00000205649; pejvakin; PJVK
Orthologs: Mus musculus : Dfnb59 (deafness, autosomal recessive 59 (human))  MGI
Rattus norvegicus : Dfnb59 (deafness, autosomal recessive 59)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_12178,705,200 - 178,715,140+NCBI
Human Genome Assembly HuRef2171,186,847 - 171,196,797+NCBI
Human Genome Assembly GRCh372179,316,163 - 179,326,113+NCBI
Human Celera Assembly2172,919,049 - 172,928,999+NCBI
Human Genome Assembly Build 362179,026,351 - 179,034,310+NCBI
Human Cytogenetic Map2q31.2 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on DFNB59
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1352291
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2013-02-20
Status: ACTIVE