About   Help   FAQ
Dfna5
Gene Detail
 Symbol
Name
ID
Dfna5
deafness, autosomal dominant 5 (human)
MGI:1889850
Synonyms 2310037D07Rik, 4932441K13Rik, Dfna5h, EG14210, Fin15
Feature Type protein coding gene
Genetic Map
Chromosome 6
24.13 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr6:50189369-50263862 bp, - strand
From VEGA annotation of GRCm38

  74494 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3242  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

Gene Tree: Dfna5

Human
homologs
Human Homolog DFNA5, deafness, autosomal dominant 5
NCBI Gene ID 1687
neXtProt AC  NX_O60443
Human Synonyms  ICERE-1
Human Chr (Location)  7p15; chr7:24698355-24758020 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human DFNA5
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice display abnormal numbers of cochlear hair cell but have normal hearing.
 
Interactions
Dfna5 interacts with 360 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process apoptotic process, inner ear receptor cell differentiation, ...
Component cytoplasm
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (67)    Tissues (55)    Images (1)
Theiler Stages: 17, 19, 21, 23, 27, 28
Assay TypeResults
Northern blot 17
RT-PCR 50
cDNA source data(9)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(14) Genomic(1) cDNA(11) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000035970 (Evidence)
Ensembl Gene ModelENSMUSG00000029821 (Evidence)
Entrez Gene54722 (Evidence)
Consensus CDS ProjectCCDS20130.1
International Mouse Knockout Project StatusDfna5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035970 VEGA Gene Model | MGI Sequence Detail 74494 C57BL/6J ±  kb
transcript OTTMUST00000092298 VEGA | MGI Sequence Detail 2502 Not Applicable 
polypeptide OTTMUSP00000050972 VEGA | MGI Sequence Detail 512 Not Applicable 

For the selected sequences
All sequences(47) RefSeq(8) UniProt(7)
Polymorphisms RFLP(1) : SNPs within 2kb(604 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007677 Gasdermin
Protein Ontology PR:000006431 non-syndromic hearing impairment protein 5
References (Earliest) J:32076 Guthridge MA, et al., Induction of expression of growth-related genes by FGF-4 in mouse fibroblasts. Oncogene. 1996 Mar 21;12(6):1267-78
(Latest) J:175781 Makki N, et al., Identification of novel Hoxa1 downstream targets regulating hindbrain, neural crest and inner ear development. Dev Biol. 2011 Sep 15;357(2):295-304
All references(32)
Other
accession IDs
MGD-MRK-33747, MGI:106063, MGI:1921667, MGI:1923695, MGI:3703053

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/09/2014
MGI 5.19
The Jackson Laboratory