USH2A
| Gene Symbol | USH2A |
|---|---|
| Entrez Gene | 7399 |
| Alt Symbol | RP39, US2, USH2, dJ1111A8.1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | Usher syndrome 2A (autosomal recessive, mild) |
| Other Description | usher syndrome type IIa protein|usher syndrome type-2A protein|usherin |
| Swissprots | Q9NS27 O75445 Q5VVM9 Q6S362 |
| Accessions | AAF75819 O75445 AA883599 AF055580 AAC23748 AY481573 AAS47698 NM_007123 NP_009054 NM_206933 NP_996816 |
| Function | Involved in hearing and vision. |
| Subcellular Location | Cell projection, stereocilium membrane {ECO:0000269|PubMed:14676276}; Single-pass type I membrane protein {ECO:0000269|PubMed:14676276}. Note=Probable component of the interstereocilia ankle links in the inner ear sensory cells. |
| Tissue Specificity | Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea. {ECO:0000269|PubMed:11788194, ECO:0000269|Pu |
Usherin (N-16) - sc-49769 from Santa Cruz Biotechnology
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Usherin (S-19) - sc-49771 from Santa Cruz Biotechnology
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Anti-USH2A antibody - ab42131 from Abcam
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Anti-USH2A antibody - ab82714 from Abcam
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Anti-USH2A Antibody (C-Terminus) - LS-C145048 from LifeSpan Bioscience
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Usherin / USH2A (N-term) antibody - AP10368PU-N from Acris Antibodies
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Usherin / USH2A antibody - AP10369PU-N from Acris Antibodies
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Usherin / USH2A (C-term) antibody - AP10370PU-N from Acris Antibodies
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Usherin / USH2A (C-term) antibody - AP55368PU-N from Acris Antibodies
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Usherin / USH2A antibody - AP55368SU-N from Acris Antibodies
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Usherin, Polyclonal Antibody - MBS540168 from MyBioSource
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Usherin, Polyclonal Antibody - MBS540441 from MyBioSource
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USH2A, Polyclonal Antibody - MBS540442 from MyBioSource
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Usherin Antibody - USH-101AP from FabGennix
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USH2A Antibody - USH-112AP from FabGennix
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Usherin Antibody - USH-121AP from FabGennix
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Usherin (Ush2A) antibody - pab0586-P from Covalab
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Usherin (Ush2A) antibody - pab0586 from Covalab
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Usherin (G-6) - sc-515555 from Santa Cruz Biotechnology
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Anti-USH2A (aa 280-302) polyclonal antibody - CABT-BL3746 from Creative Diagnostics
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Usherin, Polyclonal Antibody - MBS5400214 from MyBioSource
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Usherin, Polyclonal Antibody - MBS5400215 from MyBioSource
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Usherin, Polyclonal Antibody - MBS5400216 from MyBioSource
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Usherin, Polyclonal Antibody - MBS5400217 from MyBioSource
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Usherin, Polyclonal Antibody - MBS5400218 from MyBioSource
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