General information
| SG037858 | |||||||||||||||||
| Sox30 | |||||||||||||||||
| Mus musculus | |||||||||||||||||
| 10090 | |||||||||||||||||
| ENSMUSG00000040489 | |||||||||||||||||
| ENSMUSP00000037519 | |||||||||||||||||
SRY (sex determining region Y)-box 30 [Mus musculus (house mouse)] | |||||||||||||||||
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Reviewed functional gene |
Functional information
| postmeiotic | |
| Spermatid | |
| SOX30 is amembers of the SOX (Sry-related High Motility Group (HMG) box) gene family encode transcription factors that are highly conserved and are important for a range of developmental processes, including sex determination, neuronal development and regulation of stem cell pluripotency. SOX30 is the sole representative of SOX group H and is a relatively divergent member, with an HMG domain only 46% identical to the SOX-HMG box consensus sequence.SOX30 is a key transcription factor necessary for normal progression of spermatogenesis at the post-meiotic spermiogenesis phase. | |
Expression and location
| Expressed highest in testis | |
| Expressed highest in spermatid | |
| View detail | |
| View detail | |
| Nucleus |
Mutation in human orthology
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1000G (Phase 3): 1268 ESP6500 (SI-V2): 100 ExAC (r0.3.1): 492 dbSNP(Build 147): 2847 |
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Chinese health control (254): 5 European health control (283): 3 Chinese patients (168): |
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Other information
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| Q8CGW4 |