| G Protein-coupled Receptor 98 | OKDB#: 3953 |
| Symbols: | GPR98 | Species: | human | ||
| Synonyms: | FEB4, MASS1, USH2B, USH2C, VLGR1, VLGR1b, KIAA0686, DKFZp761P0710,MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1, MOUSE, HOMOLOG OF, MASS1|VERY LARGE G PROTEIN-COUPLED RECEPTOR 1, VLGR1|KIAA0686 | Locus: | 5q13 in Homo sapiens | HPMR |
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| General Comment | NCBI Summary: This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq] | ||||
| General function | Receptor | ||||
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| Cellular localization | Plasma membrane | ||||
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| Ovarian function | |||||
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| Ovarian localization | Oocyte, Cumulus | ||||
| 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. This is an oocyte and cumulus-specific gene. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Jan. 29, 2009, 12:21 p.m. | by: |
hsueh email:
home page: |
| last update: | Jan. 29, 2009, 12:21 p.m. | by: | hsueh email: |
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