GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description otoferlin
Synonyms
Chromosome 5
Genetic Map Distance 16.48 cM
RefSeq Accessions NM_001100395; NM_031875; NP_001093865; NP_114081
NCBI Entrez Gene 83762 at chr5:30669351-30764305 (mm9) / chr5:30367066-30462506 (mm10)
Ensembl Gene ENSMUSG00000062372
VEGA Gene OTTMUSG00000025902
MGI Gene MGI:1891247
Mouse Protein (3)
UniProt ID Description Length (AA) Predicted # TMs
Q9ESF1 Otoferlin 1997 1
B7ZN98 Otof protein 1977 1
D3YXV0 Uncharacterized protein 1932 0
Pfam Domains C2; Pfam-B_10790; C2; FerI; C2; FerB; C2; C2; Pfam-B_2982; C2
Mouse alleles (8)
Allele Name Allele Type
Otoftm1e(KOMP)Wtsi KOMP-CSD-Project
Otoftm1a(KOMP)Wtsi KOMP-CSD-Project
Otofdeaf5Jcs Chemically induced (ENU)
Otofpga Chemically induced (ENU)
Otoftm1.1(cre)Mull Targeted (knock-in)
Otoftm1.1Erei Targeted (knock-out)
Otoftm1Ugds Targeted (knock-out)
Otoftm2.1(cre/ERT2)Mull Targeted (knock-in)
Human Homolog OTOF (otoferlin)
Human synonyms AUNB1; DFNB6; DFNB9; FER1L2; NSRD9
Human cytoband 2p23.1
Known deafness gene DFNB9
Within mapped deafness loci No
Associated Human Disease in OMIM
Chicken homolog (1)
ENSGALG00000016577 (OTOF) encoding ENSGALP00000026707
Gene Ontology
Biological Process (3) sensory perception of sound; synaptic vesicle exocytosis; synaptic vesicle exocytosis
Cellular Component (10) endoplasmic reticulum; cytoplasmic vesicle; integral to membrane; integral to membrane; membrane; synapse; plasma membrane; cell junction; synaptic vesicle membrane; cell
Molecular Function (2) protein binding; calcium ion binding
FACS-Sorted Hair Cells
Data | Chart
E16a
E16b
P0
P4
P7
P16
Utricle GFP+ cells
86
194
1797
4020
1800
1509
Cochlea GFP+ cells
16
6
605
1043
1135
NA
Utricle GFP- cells
0
12
68
3
4
0
Cochlea GFP- cells
1
20
311
11
2
NA
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
GFP-
39
GFP+
1110
28.01
5.58e-12
Utricle
791
Cochlea
315
0.40
1
Embryonic
42
Postnatal
879
20.81
1.15e-7
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)
17446688 960.04 ± 58.10 95.26 ± 18.36 [110.32] 0.10 0.0552
Otic Progenitor Cells
Data
Growth Factor
Replicate 1
Replicate 2
Replicate 3
Mean
bFGF
2
2
2
2
No bFGF
0
2
3
1
EGF
0
0
0
0
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
bFGF
2
No bFGF
1
0.64
1
bFGF
2
EGF
0
0.00
0.00615
No bFGF
1
EGF
0
0.00
0.0765
Chicken Stereocilium Proteomics
Protein ID ENSGALP00000026707
Symbol OTOF
Description Otoferlin
log10 riBAQ in stereocilia (mean ± sd) -3.03 ± 0.11
log10 riBAQ in utricle (mean ± sd) -2.04 ± 0.06
Molecules per stereocilium (mean ± error with slope error) 1364.83 ± 62.91
Corrected Molecules per stereocilium (mean ± sd) -1349.13 ± 3408.93
Stereocilium / Utricle ratio (mean ± sd) 0.10 ± 0.01
Enriched in the stereocilia (FDR < 0.05) FALSE
Auditory and Vestibular Ganglion Neurons
Probe set ID: 1420419_a_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 41.47 48.5 158.85 98.1 119.01 114.25
Replicate 1 Call A P P P A A
Replicate 2 69.47 64.49 135.87 86.28 82.76 282.09
Replicate 2 Call A P P M P A
Replicate 3 58.33 52.83 134.5 116.81 62.64 109.98
Replicate 3 Call M P P P A A
Replicate 4 86.54 81.75 96.42 82.89
Replicate 4 Call P P P A
Mean 56.42 55.27 128.94 95.74 90.21 147.3
Standard Deviation 14.1 8.27 30.39 15.65 23.69 90.93
Log2 Mean 5.79 5.78 6.98 6.57 6.46 7.03
Log2 Standard Deviation 0.38 0.21 0.38 0.23 0.39 0.77
 
Vestibular ganglion
Replicate 1 80.69 43.81 66.4 54.21 83.78 119.82
Replicate 1 Call M P A A P P
Replicate 2 91.94 37.41 78.71 48.42 173.9 77.09
Replicate 2 Call P A A A P A
Replicate 3 58.58 54.17 57.78 67.9 46.97 79.69
Replicate 3 Call A P A A P P
Mean 77.07 45.13 67.63 56.84 101.55 92.2
Standard Deviation 16.97 8.46 10.52 10 65.3 23.95
Log2 Mean 6.24 5.48 6.07 5.81 6.46 6.5
Log2 Standard Deviation 0.33 0.27 0.22 0.25 0.95 0.35