Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Usherin (also known as USH2A) is a single-pass type I membrane protein that is involved in hearing and vision. Usherin interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane [, ].Defects in USH2A are the cause of Usher syndrome type 2A (USH2A). USH is a genetically heterogeneous condition characterised by the association of retinitis pigmentosa and sensorineural deafness []. Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field []. |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Bhattacharya G |
Year: |
2004 |
Journal: |
J Cell Sci |
Title: |
A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. |
Volume: |
117 |
Issue: |
Pt 2 |
Pages: |
233-42 |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Publication |
First Author: |
Rivolta C |
Year: |
2000 |
Journal: |
Am J Hum Genet |
Title: |
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. |
Volume: |
66 |
Issue: |
6 |
Pages: |
1975-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Schwaller F |
Year: |
2021 |
Journal: |
Nat Neurosci |
Title: |
USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans. |
Volume: |
24 |
Issue: |
1 |
Pages: |
74-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Perrino PA |
Year: |
2020 |
Journal: |
Commun Biol |
Title: |
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes. |
Volume: |
3 |
Issue: |
1 |
Pages: |
180 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lu B |
Year: |
2010 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Cell transplantation to arrest early changes in an ush2a animal model. |
Volume: |
51 |
Issue: |
4 |
Pages: |
2269-76 |
|
•
•
•
•
•
|
Publication |
First Author: |
Guan Y |
Year: |
2023 |
Journal: |
Adv Sci (Weinh) |
Title: |
Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment. |
Volume: |
10 |
Issue: |
16 |
Pages: |
e2205993 |
|
•
•
•
•
•
|
Publication |
First Author: |
Eudy JD |
Year: |
1998 |
Journal: |
Science |
Title: |
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. |
Volume: |
280 |
Issue: |
5370 |
Pages: |
1753-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bhattacharya G |
Year: |
2005 |
Journal: |
Biochemistry |
Title: |
Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes. |
Volume: |
44 |
Issue: |
34 |
Pages: |
11518-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
van Wijk E |
Year: |
2006 |
Journal: |
Hum Mol Genet |
Title: |
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. |
Volume: |
15 |
Issue: |
5 |
Pages: |
751-65 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huang D |
Year: |
2002 |
Journal: |
Genomics |
Title: |
Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease. |
Volume: |
80 |
Issue: |
2 |
Pages: |
195-203 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
214
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
760
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
5193
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Danciger JS |
Year: |
1999 |
Journal: |
Mamm Genome |
Title: |
Genetic and physical maps of the mouse rd3 locus; exclusion of the ortholog of USH2A. |
Volume: |
10 |
Issue: |
7 |
Pages: |
657-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu X |
Year: |
2007 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. |
Volume: |
104 |
Issue: |
11 |
Pages: |
4413-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Grati M |
Year: |
2012 |
Journal: |
J Neurosci |
Title: |
Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. |
Volume: |
32 |
Issue: |
41 |
Pages: |
14288-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen Q |
Year: |
2014 |
Journal: |
J Biol Chem |
Title: |
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. |
Volume: |
289 |
Issue: |
52 |
Pages: |
36070-88 |
|
•
•
•
•
•
|
Publication |
First Author: |
Maerker T |
Year: |
2008 |
Journal: |
Hum Mol Genet |
Title: |
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. |
Volume: |
17 |
Issue: |
1 |
Pages: |
71-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Reiners J |
Year: |
2005 |
Journal: |
Hum Mol Genet |
Title: |
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. |
Volume: |
14 |
Issue: |
24 |
Pages: |
3933-43 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adato A |
Year: |
2005 |
Journal: |
Hum Mol Genet |
Title: |
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. |
Volume: |
14 |
Issue: |
24 |
Pages: |
3921-32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zou J |
Year: |
2011 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. |
Volume: |
52 |
Issue: |
5 |
Pages: |
2343-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Roeseler DA |
Year: |
2012 |
Journal: |
PLoS One |
Title: |
Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2. |
Volume: |
7 |
Issue: |
11 |
Pages: |
e47366 |
|
•
•
•
•
•
|
Publication |
First Author: |
Reiners J |
Year: |
2006 |
Journal: |
Exp Eye Res |
Title: |
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. |
Volume: |
83 |
Issue: |
1 |
Pages: |
97-119 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272745 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1619428 |
|
Stage: |
TS28 |
Assay Id: |
MGI:6272754 |
Age: |
postnatal day 15 |
|
|
Specimen Label: |
inner ear + |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272745 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1716828 |
|
Stage: |
TS28 |
Assay Id: |
MGI:6272754 |
Age: |
postnatal day 15 |
|
|
Specimen Label: |
retina + |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272745 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1797228 |
|
Stage: |
TS28 |
Assay Id: |
MGI:6272754 |
Age: |
postnatal day 15 |
|
|
Specimen Label: |
testis + |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1760623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_10 |
|
Specimen Label: |
euxassay_016522_10 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1760623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_11 |
|
Specimen Label: |
euxassay_016522_11 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1760623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_12 |
|
Specimen Label: |
euxassay_016522_12 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1760623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_13 |
|
Specimen Label: |
euxassay_016522_13 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1760623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_14 |
|
Specimen Label: |
euxassay_016522_14 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1760623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_15 |
|
Specimen Label: |
euxassay_016522_15 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1760623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_17 |
|
Specimen Label: |
euxassay_016522_17 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1760623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_18 |
|
Specimen Label: |
euxassay_016522_18 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1619428 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:6272758 |
Age: |
postnatal day 5 |
|
Note: |
Expression was detected at the base of the stereocilia of vestibular hair cells. |
Specimen Label: |
3E P5 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1619428 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:6272758 |
Age: |
postnatal day 15 |
|
Note: |
Expression was detected at the base of the stereocilia of vestibular hair cells. |
Specimen Label: |
3E P15 |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906126 |
Pattern: |
Regionally restricted |
Stage: |
TS26 |
Assay Id: |
MGI:6272758 |
Age: |
embryonic day 18.0 |
|
Note: |
Expression was detected all along the stereocilia of outer hair cells, whereas no labeling is found in the stereocilia of inner hair cells. |
Specimen Label: |
3A |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906126 |
Pattern: |
Regionally restricted |
Stage: |
TS26 |
Assay Id: |
MGI:6272758 |
Age: |
embryonic day 20.0 |
|
Note: |
At E20, the outer hair cell labeling becomes restricted to the base of the stereocilia and also appears at the base of the inner hair cell sterocilia. |
Specimen Label: |
not shown |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906127 |
Pattern: |
Regionally restricted |
Stage: |
TS27 |
Assay Id: |
MGI:6272758 |
Age: |
postnatal day 0 |
|
Note: |
Intense labeling at the base of growing sterocilia persisted at P0. |
Specimen Label: |
not shown |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906128 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:6272758 |
Age: |
postnatal day 5 |
|
Note: |
Expression was detected at the base of the stereocilia of both outer and inner hair cells. |
Specimen Label: |
3B left |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906128 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:6272758 |
Age: |
postnatal day 5 |
|
Note: |
Expression was detected at the base of the stereocilia of inner hair cells. |
Specimen Label: |
3B right |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906128 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:6272758 |
Age: |
postnatal day 10 |
|
Note: |
Labeling of sterocilia starts to fade out first in inner hair cells at P10. |
Specimen Label: |
3C |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6272749 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2019-01-09 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906128 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:6272758 |
Age: |
postnatal day 15 |
|
Note: |
Usherin is no longer detected in the sterocilia, but a strong labeling can be seen in the apical part of the cell soma in both hair cells and supporting cells. |
Specimen Label: |
3D |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4425541 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1761223 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4829124 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_016522_15 |
|
Specimen Label: |
euxassay_016522_15 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Eudy JD |
Year: |
2000 |
Journal: |
GenBank Submission |
Title: |
Mus musculus putative extracellular matrix protein MUSH2A mRNA, complete cds |
|
|
Pages: |
AF151717 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mathur PD |
Year: |
2023 |
Journal: |
Sci Rep |
Title: |
Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina. |
Volume: |
13 |
Issue: |
1 |
Pages: |
7075 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang J |
Year: |
2010 |
Journal: |
PLoS Genet |
Title: |
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. |
Volume: |
6 |
Issue: |
5 |
Pages: |
e1000955 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zou J |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. |
Volume: |
23 |
Issue: |
9 |
Pages: |
2374-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zou J |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. |
Volume: |
24 |
Issue: |
24 |
Pages: |
6944-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zallocchi M |
Year: |
2010 |
Journal: |
Biochemistry |
Title: |
Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells. |
Volume: |
49 |
Issue: |
6 |
Pages: |
1236-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cosgrove D |
Year: |
2014 |
Journal: |
Int J Biochem Cell Biol |
Title: |
Usher protein functions in hair cells and photoreceptors. |
Volume: |
46 |
|
Pages: |
80-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Michalski N |
Year: |
2007 |
Journal: |
J Neurosci |
Title: |
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. |
Volume: |
27 |
Issue: |
24 |
Pages: |
6478-88 |
|
•
•
•
•
•
|
Publication |
First Author: |
MouseBookTM |
Year: |
2005 |
Journal: |
Unpublished |
Title: |
Information obtained from MouseBookTM, Medical Research Council Mammalian Genetics Unit, Harwell, UK. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Collin GB |
Year: |
2020 |
Journal: |
Cells |
Title: |
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. |
Volume: |
9 |
Issue: |
4 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
European Mouse Mutant Archive |
Year: |
2003 |
Journal: |
Unpublished |
Title: |
Information obtained from the European Mouse Mutant Archive (EMMA) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bailey PJ |
Year: |
2006 |
Journal: |
Exp Cell Res |
Title: |
A global genomic transcriptional code associated with CNS-expressed genes. |
Volume: |
312 |
Issue: |
16 |
Pages: |
3108-19 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
RIKEN Data Curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Mouse Synonym Curation |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
Journal: |
Database Download |
Title: |
Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|