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Dfna5 Gene Detail
 Symbol
Name
ID
Dfna5
deafness, autosomal dominant 5 (human)
MGI:1889850


Nomenclature History
Synonyms 2310037D07Rik, 4932441K13Rik, Dfna5h, EG14210, Fin15
Genetic Map
Chromosome 6
22.5 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 5)

Sequence Map
Chr6:50157402-50211768 bp, - strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Dfna5 ± 2 cM)
TreeFam: TF352821
Sequences
Representative Sequences Length Strain/Species Flank
genomic 54722 NCBI Gene Model | MGI Sequence Detail 54367 C57BL/6J ± Kb
transcript NM_018769 RefSeq | MGI Sequence Detail 2133 C57BL/6
polypeptide Q9Z2D3 UniProt | EBI | MGI Sequence Detail 512 Not Applicable
For the selected sequences
All sequences(30)
Alleles
and
phenotypes
All alleles(3) : Targeted, knock-out(1) Targeted, other(2)
Homozygous null mice display abnormal numbers of cochlear hair cell but have normal hearing.
Polymorphisms RFLP(1) SNPs within 2kb(433 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(4)
Process inner ear receptor cell differentiation, sensory perception of sound...
Component cellular_component
Function molecular_function
External Resources: MouseFunc
Expression Literature Summary: (3 records)
Data Summary: Assays (4)    Results (67)    Tissues (54)    Images (1)
Theiler Stages: 17,19,21,23,28
  Assay Type Assays   Results
      RT-PCR 2   50
      Northern blot 2   17
cDNA source data(7)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(11) cDNA(9) Primer pair(2)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000029821, ENSMUSG00000073074
DoTS DT.40173720, DT.55226825, DT.60117986, DT.87047746, DT.91328268
DFCI TC1582230, TC1585331, TC1606611, TC1633496
Entrez Gene 54722
International Mouse Knockout Project Status Dfna5
Protein
domains
InterPro ID Description
IPR007677 DFNA5 protein
Graphical View of Protein Domain Structure
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:111260 Delmaghani S et al., "Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy." Nat Genet 2006 Jul;38(7):770-8
All references(10)
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
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory