Version 5.4
Homo sapiens Gene: DFNB59
Summary
InnateDB Gene IDBG-76049.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DFNB59
Gene Name deafness, autosomal recessive 59
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000204311
Encoded Proteins
IDBP-76051
deafness, autosomal recessive 59
IDBP-293486
deafness, autosomal recessive 59
IDBP-387800
deafness, autosomal recessive 59
IDBP-387801
deafness, autosomal recessive 59
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:178451436-178461390
Strand Forward strand
Band q31.2
Transcripts
ENST00000375129 ENSP00000364271
ENST00000409117 ENSP00000386647
ENST00000437056
ENST00000442710 ENSP00000410776
ENST00000444615 ENSP00000399579
ENST00000605419
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007605 sensory perception of sound
Cellular Component
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000075267
View Gene Order
ENSBTAG00000033254
Not yet available
Cross-References
SwissProt Q0ZLH3
TrEMBL A0PK15
UniProt Splice Variant
Entrez Gene 494513
UniGene Hs.87734
RefSeq NM_001042702 XM_006712554
HUGO HGNC:29502
OMIM 610219
CCDS CCDS42787
HPRD
IMGT
EMBL BC127902 BC127903 BC146938 CH471058 DQ365827
GenPept AAI27903 AAI27904 AAI46939 ABC94894 EAX11033
RNA Seq Atlas 494513

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca