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- Table of Contents
Facts about Usherin.
Human | |
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Gene Name: | USH2A |
Uniprot: | O75445 |
Entrez: | 7399 |
Belongs to: |
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No superfamily |
Usherin
Mass (kDA):
575.6 kDA
Human | |
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Location: | 1q41 |
Sequence: | 1; NC_000001.11 (215622891..216423448, complement) |
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.
Cell projection, stereocilium membrane; Single-pass type I membrane protein. Component of the interstereocilia ankle links in the inner ear sensory cells. In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment taht surrounds the connecting cilia called periciliary membrane complex.; [Isoform 2]: Secreted.
PMID: 9624053 by Eudy J.D., et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
PMID: 10729113 by Weston M.D., et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.