GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description Usher syndrome 2A (autosomal recessive, mild)
Synonyms MUSH2A; A930011D15Rik; LOC269160; Usherin; LOC381317; A930037M10Rik
Chromosome 1
Genetic Map Distance 92.29 cM
RefSeq Accessions NP_067383; XM_196227
NCBI Entrez Gene 22283 at chr1:190086717-190788920 (mm9) / chr1:188262838-188965497 (mm10)
Ensembl Gene ENSMUSG00000026609
VEGA Gene OTTMUSG00000018252
MGI Gene MGI:1341292
Mouse Protein (4)
UniProt ID Description Length (AA) Predicted # TMs
Q2QI47 Usherin 5193 2
Q1KPK2 Usherin (Fragment) 208 1
Q8BXL8 Putative uncharacterized protein (Fragment) 760 1
Q9D1Z8 Putative uncharacterized protein 214 0
Pfam Domains
Mouse alleles (3)
Allele Name Allele Type
Ush2atm1e(EUCOMM)Wtsi EUCOMM-projects
Ush2atm1a(EUCOMM)Wtsi EUCOMM-projects
Ush2atm1Tili Targeted (knock-out)
Human Homolog USH2A (Usher syndrome 2A (autosomal recessive, mild))
Human synonyms dJ1111A8.1; RP39; US2; USH2
Human cytoband 1q41
Known deafness gene USH2A
Within mapped deafness loci No
Associated Human Disease in OMIM
Chicken homolog (2)
ENSGALG00000009652 (USH2A) encoding ENSGALP00000015700
ENSGALG00000009652 (USH2A) encoding ENSGALP00000015712
Gene Ontology
Biological Process (8) maintenance of organ identity; sensory perception of light stimulus; inner ear receptor cell differentiation; photoreceptor cell maintenance; photoreceptor cell maintenance; response to stimulus; visual perception; sensory perception of sound
Cellular Component (11) basement membrane; basement membrane; apical plasma membrane; stereocilium bundle; extracellular region; cytoplasm; membrane; plasma membrane; cell projection; integral to membrane; stereocilia ankle link complex
Molecular Function (4) collagen binding; collagen binding; myosin binding; protein binding
FACS-Sorted Hair Cells
Data | Chart
E16a
E16b
P0
P4
P7
P16
Utricle GFP+ cells
91
53
84
126
78
405
Cochlea GFP+ cells
24
17
70
56
70
NA
Utricle GFP- cells
1
6
6
0
0
15
Cochlea GFP- cells
1
6
4
1
0
NA
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
GFP-
3
GFP+
98
24.76
2.91e-5
Utricle
72
Cochlea
25
0.35
1
Embryonic
25
Postnatal
65
2.61
0.169
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)
17220644 8.39 ± 0.35 9.04 ± 0.55 [10.18] 1.08 0.501
Otic Progenitor Cells
Data
Growth Factor
Replicate 1
Replicate 2
Replicate 3
Mean
bFGF
3
5
1
2
No bFGF
7
6
3
4
EGF
6
3
7
6
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
bFGF
2
No bFGF
4
1.82
1
bFGF
2
EGF
6
2.35
0.205
No bFGF
4
EGF
6
1.29
0.678
Chicken Stereocilium Proteomics
Protein ID ENSGALP00000015700
Symbol USH2A
Description Usherin (Usher syndrome 2A)
log10 riBAQ in stereocilia (mean ± sd) -6.31 ± 0.06
log10 riBAQ in utricle (mean ± sd) -6.66 ± 0.25
Molecules per stereocilium (mean ± error with slope error) 0.72 ± 0.02
Corrected Molecules per stereocilium (mean ± sd) 0.68 ± 0.10
Stereocilium / Utricle ratio (mean ± sd) 2.24 ± 0.13
Enriched in the stereocilia (FDR < 0.05) NA
Auditory and Vestibular Ganglion Neurons
Probe set ID: 1421697_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 147.11 169.08 161.33 199.87 125.65 129.42
Replicate 1 Call A A A A A A
Replicate 2 147.82 147.27 159.78 237.42 143.19 184.63
Replicate 2 Call A A A A A A
Replicate 3 176.81 155.43 140.16 210.52 162.69 137.99
Replicate 3 Call A A A A A A
Replicate 4 144.21 169.19 158.94 207.06
Replicate 4 Call A A A A
Mean 157.25 157.26 151.37 204.25 147.62 164.78
Standard Deviation 16.95 11.02 10.75 28.21 16.91 37.19
Log2 Mean 7.29 7.29 7.24 7.66 7.2 7.34
Log2 Standard Deviation 0.15 0.1 0.1 0.2 0.17 0.33
 
Vestibular ganglion
Replicate 1 193.5 189.25 271.5 247.2 250.43 203.49
Replicate 1 Call A A A P A A
Replicate 2 171.5 225.33 232.99 262.86 270.31 207.44
Replicate 2 Call A A A A A A
Replicate 3 162.37 189.03 263.37 278.64 239.48 163.75
Replicate 3 Call A A A A A A
Mean 175.79 201.2 255.95 262.9 253.41 191.56
Standard Deviation 16 20.89 20.3 15.72 15.63 24.17
Log2 Mean 7.45 7.65 8 8.04 7.98 7.57
Log2 Standard Deviation 0.13 0.15 0.12 0.09 0.09 0.19
Probe set ID: 1431750_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 6.3 17.67 1 1 1 19.67
Replicate 1 Call A A A A A A
Replicate 2 1 1 1 1 1 1
Replicate 2 Call A A A A A A
Replicate 3 1 1 5.7 1 21.46 2.79
Replicate 3 Call A A A A A A
Replicate 4 1 7.43 1 6.72
Replicate 4 Call A A A A
Mean 2.77 6.56 2.18 2.61 6.12 7.55
Standard Deviation 3.06 9.62 2.35 3.22 10.23 8.43
Log2 Mean 0.89 1.38 0.63 0.72 1.11 2.13
Log2 Standard Deviation 1.53 2.39 1.26 1.45 2.21 1.83
 
Vestibular ganglion
Replicate 1 1 1 1 1 1 4.83
Replicate 1 Call A A A A A A
Replicate 2 1 1 1 1 1 1
Replicate 2 Call A A A A A A
Replicate 3 1 1 1 1 2.65 1
Replicate 3 Call A A A A A A
Mean 1 1 1 1 1.55 2.28
Standard Deviation 0 0 0 0 0.95 2.21
Log2 Mean 0 0 0 0 0.47 0.76
Log2 Standard Deviation 0 0 0 0 0.81 1.31