GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description deafness, autosomal recessive 59 (human)
Synonyms pejvakin; LOC381375
Chromosome 2
Genetic Map Distance 45.08 cM
RefSeq Accessions NP_001074180; XM_355340
NCBI Entrez Gene 381375 at chr2:76488330-76496613 (mm9) / chr2:76648307-76658554 (mm10)
Ensembl Gene ENSMUSG00000075267
VEGA Gene OTTMUSG00000013131
MGI Gene MGI:2685847
Mouse Protein (4)
UniProt ID Description Length (AA) Predicted # TMs
Q0ZLH2 Pejvakin 352 0
A2ATI4 Deafness, autosomal recessive 59 (Human) 352 0
B0R0L8 Deafness, autosomal recessive 59 (Human) (Fragment) 73 0
B0R0L9 Deafness, autosomal recessive 59 (Human) (Fragment) 190 0
Pfam Domains Gasdermin
Mouse alleles (2)
Allele Name Allele Type
Dfnb59sti Chemically induced (ENU)
Dfnb59tm1Ugds Targeted (knock-in)
Human Homolog DFNB59 (deafness, autosomal recessive 59)
Human synonyms PJVK
Human cytoband 2q31.2
Known deafness gene DFNB59
Within mapped deafness loci DFNB27
Associated Human Disease in OMIM
Chicken homolog (1)
ENSGALG00000023439 (DFNB59) encoding ENSGALP00000037968
Gene Ontology
Biological Process (2) sensory perception of sound; sensory perception of sound
Cellular Component (1) neuronal cell body
Molecular Function (1) molecular_function
FACS-Sorted Hair Cells
Data | Chart
E16a
E16b
P0
P4
P7
P16
Utricle GFP+ cells
1813
47
232
412
560
418
Cochlea GFP+ cells
23
28
195
310
219
NA
Utricle GFP- cells
1
8
4
3
3
78
Cochlea GFP- cells
3
0
6
3
6
NA
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
GFP-
10
GFP+
387
35.37
1.8e-10
Utricle
298
Cochlea
79
0.27
1
Embryonic
240
Postnatal
175
0.73
0.14
Adult Cochlear Inner and Outer Hair Cells
Probeset ID IHC (mean ± sd) OHC (mean ± sd) [OHC replicate] Fold Change (OHC/IHC) False Discovery Rate (FDR)
17372233 774.96 ± 76.40 605.72 ± 140.48 [380.91] 0.78 0.531
Otic Progenitor Cells
Data
Growth Factor
Replicate 1
Replicate 2
Replicate 3
Mean
bFGF
0
4
0
1
No bFGF
0
2
1
1
EGF
3
0
3
2
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
bFGF
1
No bFGF
1
1.00
1
bFGF
1
EGF
2
1.45
0.817
No bFGF
1
EGF
2
1.45
0.854
Chicken Stereocilium Proteomics
The chicken protein was not reproducibly detected in the chicken stereocilia.
Auditory and Vestibular Ganglion Neurons
No probes available for Dfnb59 on Affymetrix MOE430_2.0 GeneChip.