Gene Symbol | USH2A |
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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 CRISPR/Cas9 KO Plasmid (h) - sc-409699 from Santa Cruz Biotechnology
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Usherin HDR Plasmid (h) - sc-409699-HDR from Santa Cruz Biotechnology
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Usherin Double Nickase Plasmid (h) - sc-409699-NIC from Santa Cruz Biotechnology
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Usherin Double Nickase Plasmid (h2) - sc-409699-NIC-2 from Santa Cruz Biotechnology
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Usherin CRISPR Activation Plasmid (h) - sc-409699-ACT from Santa Cruz Biotechnology
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Usherin CRISPR Activation Plasmid (h2) - sc-409699-ACT-2 from Santa Cruz Biotechnology
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Usherin Lentiviral Activation Particles (h) - sc-409699-LAC from Santa Cruz Biotechnology
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Usherin Lentiviral Activation Particles (h2) - sc-409699-LAC-2 from Santa Cruz Biotechnology
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Usherin siRNA (h) - sc-61762 from Santa Cruz Biotechnology
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Usherin shRNA Plasmid (h) - sc-61762-SH from Santa Cruz Biotechnology
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Usherin shRNA (h) Lentiviral Particles - sc-61762-V from Santa Cruz Biotechnology
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CompoZr® Knockout ZFN Kit - CKOZFN22551 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND22551 from Sigma-Aldrich
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USH2A siRNA (Human) - CRH5060 from Cohesion Biosciences
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USH2A - MBS8212181 from MyBioSource
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shRNA set against Human USH2A (NM_007123.5) - SHH441141 from Creative biogene
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Human USH2A siRNA - orb265562 from Biorbyt
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USH2A shRNA Plasmid (Human) - CHH5060 from Cohesion Biosciences
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USH2A miRNA 3'UTR clone - MiUTR4H-TG09699 from Creative biogene
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