| Syntrophin, Beta-2 | OKDB#: 3925 |
| Symbols: | SNTB2 | Species: | human | ||
| Synonyms: | SNT3, SNTL, SNT2B2, EST25263, D16S2531E,SNT2B2|SYNTROPHIN-LIKE, SNTL | Locus: | 16q22-q23 in Homo sapiens |
|
For retrieval of Nucleotide and Amino Acid sequences please go to:
OMIM
Entrez Gene
Mammalian Reproductive Genetics Endometrium Database Resource Orthologous Genes UCSC Genome Browser GEO Profiles new! Amazonia (transcriptome data) new! R-L INTERACTIONS MGI |
| General Comment | NCBI Summary: Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq] | ||||
| General function | Cytoskeleton | ||||
| Comment | |||||
| Cellular localization | Cytoskeleton | ||||
| Comment | |||||
| Ovarian function | |||||
| Comment | |||||
| Expression regulated by | |||||
| Comment | |||||
| Ovarian localization | |||||
| Comment | Genomewide discovery and classification of candidate ovarian fertility genes in the mouse. Gallardo TD et al. Female infertility syndromes are among the most prevalent chronic health disorders in women, but their genetic basis remains unknown because of uncertainty regarding the number and identity of ovarian factors controlling the assembly, preservation, and maturation of ovarian follicles. To systematically discover ovarian fertility genes en masse, we employed a mouse model (Foxo3) in which follicles are assembled normally but then undergo synchronous activation. We developed a microarray-based approach for the systematic discovery of tissue-specific genes and, by applying it to Foxo3 ovaries and other samples, defined a surprisingly large set of ovarian factors (n = 348, approximately 1% of the mouse genome). This set included the vast majority of known ovarian factors, 44% of which when mutated produce female sterility phenotypes, but most were novel. Comparative profiling of other tissues, including microdissected oocytes and somatic cells, revealed distinct gene classes and provided new insights into oogenesis and ovarian function, demonstrating the utility of our approach for tissue-specific gene discovery. This study will thus facilitate comprehensive analyses of follicle development, ovarian function, and female infertility. | ||||
| Follicle stages | |||||
| Comment | |||||
| Phenotypes | |||||
| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
|
| created: | Jan. 28, 2009, 12:03 p.m. | by: |
hsueh email:
home page: |
| last update: | Jan. 28, 2009, 12:04 p.m. | by: | hsueh email: |
Click here to return to gene search form