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Ovarian Kaleidoscope Database (OKdb)

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HPMR

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176557

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


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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link to BioGPS
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]
General function
Comment
Cellular localization Nuclear
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
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.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Aug. 11, 2011, 11:47 a.m. by: hsueh   email:
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last update: Aug. 11, 2011, 11:48 a.m. by: hsueh    email:



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