Version 5.4
Homo sapiens Gene: DFNA5
Summary
InnateDB Gene IDBG-9886.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DFNA5
Gene Name deafness, autosomal dominant 5
Synonyms ICERE-1
Species Homo sapiens
Ensembl Gene ENSG00000105928
Encoded Proteins
IDBP-9888
deafness, autosomal dominant 5
IDBP-294783
deafness, autosomal dominant 5
IDBP-294784
deafness, autosomal dominant 5
IDBP-368481
deafness, autosomal dominant 5
IDBP-368487
deafness, autosomal dominant 5
IDBP-368490
deafness, autosomal dominant 5
IDBP-368492
deafness, autosomal dominant 5
IDBP-368495
deafness, autosomal dominant 5
IDBP-368498
deafness, autosomal dominant 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:24698353-24758113
Strand Reverse strand
Band p15.3
Transcripts
ENST00000342947 ENSP00000339587
ENST00000409775 ENSP00000386670
ENST00000409970 ENSP00000387119
ENST00000419307 ENSP00000401332
ENST00000430096 ENSP00000395540
ENST00000415480 ENSP00000389874
ENST00000446822 ENSP00000398445
ENST00000411476 ENSP00000414090
ENST00000414428 ENSP00000413963
ENST00000479636
ENST00000469133
ENST00000493723
ENST00000473990
ENST00000559637
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006915 apoptotic process
GO:0007605 sensory perception of sound
GO:0008285 negative regulation of cell proliferation
GO:0060113 inner ear receptor cell differentiation
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029821
View Gene Order
ENSBTAG00000015326
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.520708 Hs.598842 Hs.599805
RefSeq NM_001127453 NM_001127454 NM_004403
HUGO
OMIM
CCDS CCDS47563 CCDS5389
HPRD 02996
IMGT
EMBL
GenPept
RNA Seq Atlas

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