| Name | steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) |
| Symbol | SRD5A2 |
| Aliases | steroid 5-alpha-reductase 2 |
| Gene Product | - 3-oxo-5 alpha-steroid 4-dehydrogenase 2
|
| Category | - Gross deletion in Prostate cancer
- Mutation in Prostate cancer
- Polymorphism in Prostate cancer
|
| UniGene | Hs.1989 |
| OMIM | 264600 |
| Locus | 6716 |
| Summary | Steroid 5-alpha reductase 2 is a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. This isoform is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). |
| Gene Ontology | |
| Expression | | EST (16 ESTs, 6 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (1/204) |  | 1/362011 |
| eye (1/33) | | 3/93836 |
| lung (1/312) | | 1/245386 |
| prostate (1/291) |  | 7/109871 |
| uncharacterized tissue (2/1773) | | 4/713325 |
|
| SAGE (350564 tags, 6 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (3/19) | | 3/194379 |
| pancreas (1/8) | | 1/33957 |
| prostate (1/13) | | 1/59553 |
| uncharacterized tissue (1/22) | | 2/62675 |
|
|
| SNP | rs725631 (A/C:mrna-utr); rs632148 (C/G:mrna-utr); rs523349 (C/G:mrna-utr); rs522638 (G/A:mrna-utr); rs494302 (G/A:mrna-utr); rs479847 (C/T:mrna-utr); rs806645 (C/T:locus-region); rs2300696 (T/C:mrna-utr); rs519704 (A/G:mrna-utr); rs619857 (T/C:mrna-utr); rs542070 (T/G:mrna-utr); rs493165 (T/A:mrna-utr); rs2281546 (T/G:mrna-utr); rs1042578 (G/A:mrna-utr); rs765138 (A/C:mrna-utr); rs372319 (G/A:intron); rs413836 (G/A:mrna-utr); rs2754530 (T/C:mrna-utr); rs2666408 (A/T:mrna-utr); rs2208531 (G/A:mrna-utr); rs2268794 (T/G:mrna-utr); |
| Evidence | Gross deletion in Prostate cancer
Mutation in Prostate cancer
Polymorphism in Prostate cancer
|
