| spectrin repeat containing, nuclear envelope 2 | OKDB#: 4531 |
| Symbols: | SYNE2 | Species: | human | ||
| Synonyms: | NUA, EDMD5, TROPH, NUANCE, SYNE-2, FLJ11014, FLJ43727, FLJ45710, FLJ46790, KIAA1011, Nesprin-2, DKFZp434H2235, DKFZp686H1931, DKFZp686E01115,T50Ad, | Locus: | 14q23.2 in Homo sapiens |
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| General Comment | NCBI Summary: The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] | ||||
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| Cellular localization | Nuclear | ||||
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| Ovarian function | |||||
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| Comment | Nesprin-2 epsilon: A novel nesprin isoform expressed in human ovary and Ntera-2 cells. Lam LT et al. The nuclear envelope-associated cytoskeletal protein, nesprin-2, is encoded by a large gene containing several internal promoters that produce shorter isoforms. In a study of Ntera-2 teratocarcinoma cells, a novel isoform, nesprin-2-epsilon, was found to be the major mRNA and protein product of the nesprin-2 gene. Its existence was predicted by bioinformatic analysis, but this is the first direct demonstration of both the mRNA and the 120kDa protein which is located at the nuclear envelope. In a panel of 21 adult and foetal human tissues, the nesprin-2-epsilon mRNA was strongly expressed in ovary but was a minor isoform elsewhere. The expression pattern suggests a possible link with very early development and a likely physiological role in ovary. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Aug. 11, 2011, 11:47 a.m. | by: |
hsueh email:
home page: |
| last update: | Aug. 11, 2011, 11:48 a.m. | by: | hsueh email: |
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