| Usherin; USHER SYNDROME, TYPE IIA; USH2A | OKDB#: 1654 |
| Symbols: | Usherin; USHER SYNDROME, TYPE IIA; USH2A | Species: | human | ||
| Synonyms: | USH2| US2| USHERIN, INCLUDED| | Locus: | 1q41 in Homo sapiens |
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| General Comment |
The USH2A gene encodes a protein, designated usherin , with a predicted molecular weight of 171.5 kD and with laminin epidermal growth factor as well as fibronectin type III domains.
NCBI Summary: This gene encodes a protein containing laminin EGF motifs and fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa. |
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| General function | Cell adhesion molecule | ||||
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| Cellular localization | Extracellular Matrix | ||||
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| Ovarian localization | |||||
| Comment | Pearsall N, et al reported that usherin expression is highly conserved in mouse and human tissues. Usher syndrome is an autosomal recessive disease that results in varying degrees of hearing loss and retinitis pigmentosa. Three types of Usher syndrome (I, II, and III) have been identified clinically with Usher type II being the most common of the three types. Usher type II has been localized to three different chromosomes 1q41, 3p, and 5q, corresponding to Usher type 2A, 2B, and 2C respectively. Usherin is a basement membrane protein encoded by the USH2A gene. Expression of usherin has been localized in the basement membrane of several tissues, however it is not ubiquitous. Immunohistochemistry detected usherin in the following human tissues: retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus, and testis. Usherin was absent in many other tissues such as heart, lung, liver, kidney, and brain. This distribution is consistent with the usherin distribution seen in the mouse. Conservation of usherin is also seen at the nucleotide and amino acid level when comparing the mouse and human gene sequences. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Nov. 16, 2002, 12:17 p.m. | by: |
hsueh email:
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| last update: | Nov. 16, 2002, 12:17 p.m. | by: | system email: |
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