Recombinant Human 3-oxo-5-alpha-steroid 4-dehydrogenase 2 (SRD5A2)

1. A significant positive association of mRNA expression level and a negative association of methylation level of the SRD5A2 gene with the mRNA expression levels of CYP1A1 and CYP1B1 genes in the preputial tissue of patients with hypospadias. PMID: 29080015
2. This meta-analysis suggested that the V89L polymorphism definitely increases the risk of hypospadias, and the C allele is a genetic risk factor for hypospadias occurrence PMID: 28713005
3. rs523349 (Val89Leu), but not rs9282858, significantly associated with risk of miscarriage, mainly in the second trimester of pregnancy PMID: 28410957
4. mutations of the SRD5A2 gene are the main causes of posterior hypospadias PMID: 28663096
5. Lack of SRD5A2 expression in the prostate induces an androgenic to oestrogenic switch in human benign prostatic tissues. PMID: 28940538
6. deficiency of 5-alpha reductase type 2 was considered and SRD5A2 was sequenced. This identified homozygous pathogenic variants in SRD5A2 (p. Pro212Arg), which confirmed a diagnosis of deficiency of 5-alpha reductase type 2 PMID: 28544750
7. Chromosomal anomalies and mutations of the SRD5A2 gene are associated with hypospadias. PMID: 28397209
8. Polymorphism in the SRD5A2 gene is associated with hypospadias. PMID: 27848231
9. In a recent study we reported associations between ALTs and single nucleotide polymorphisms (SNPs) in the genes encoding estrogen receptor 1 (ESR1), steroid-5-alpha-reductase, type 2 (SRD5A2) and sex hormone-binding globulin (SHBG). No associations between the previously associated SNPs in the genes ESR1 and SRD5A2 and autistic-like traits could be seen in the large replication sample. PMID: 26930261
10. Mutations in the SRD5A2 cause a disorder of 46,XY sex development, termed 5alpha-reductase type 2 deficiency. (Review) PMID: 27224879
11. Meta-analysis of 20 publications incorporating 30 case-control studies indicated that the SRD5A2 rs9282858 polymorphism may be a susceptible factor to prostate cancer. PMID: 28489754
12. Mutations of the SRD5A2 gene is associated with 46, XY disorders of sex development. PMID: 27849622
13. p.Ala65Pro mutation in the SRD5A2 gene causes 5alphaRD2 deficiency, especially in Turkey. V89L polymorphism may also be an important factor in the development of external genitalia PMID: 26761946
14. deletion of exon 2 in the SRD5A2 gene causes various degrees of genital ambiguity leading to different sex of rearing in affected family members PMID: 27086719
15. Mutations in SRD5A2 gene were found in 46, XY DSD children with pediatric hypospadias. PMID: 27051040
16. Diagnosis of 5alpha-reductase 2 deficiency with assessment of the SRD5A2 gene may help in appropriate gender assignment. PMID: 26453174
17. Results suggest that SRD5A2 controls cell migration by indirectly regulating ERK/MAPK pathway in prostate cancer cells. PMID: 26092425
18. Metabolic syndrome develops more frequently in testicular cancer survivors homozygous or heterozygous variant for SNP rs523349 in SRD5A2. PMID: 26751392
19. the V89L and TA repeat polymorphisms of SRD5A2 gene were found to have no significant associations with breast cancer PMID: 26345832
20. In prostate cancer, increased DNA methylation of SRD5A2 and CYP11A1 related to androgen biosynthesis functions may play a role in biochemical recurrence after patients' prostatectomy PMID: 26332453
21. SRD5A2 gene polymorphisms are associated with the risk of benign prostatic hyperplasia but not prostate cancer. PMID: 25735326
22. methylation of SRD5A2 is regulated by DNA methyltransferase 1, and inflammatory mediators such as tumor necrosis factor alpha, NF-kappaB, and IL-6 regulate DNA methyltransferase 1 expression and thereby affect SRD5A2 promoter methylation and gene expression. PMID: 25700986
23. High 5alpha-reductase activity due to the polymorphism in SRD5A2 may contribute to resistance to androgen deprivation therapy. PMID: 26169017
24. Manipulation of SRD5A2 activity can regulate lipogenesis in human hepatocytes in vitro. PMID: 25974403
25. Expression of the genes HSD3B1, HSD17B3, and SRD5A2 was significantly increased in BPH tissues compared to normal adjacent prostate tissues. PMID: 24810473
26. there was no significant association between SRD5A2 SNPs and the risk of prostate cancer in the Korean population PMID: 25598933
27. This cohort study describes the phenotypic, biochemical and long-term outcome in 11 Chinese patients with 5alpha-RD2 deficiency and defines the genotypic spectrum of SRD5A2 mutations in China. PMID: 24665940
28. The SRD5A2 V89L polymorphism was not associated with the risk of prostate cancer. PMID: 25310105
29. study concludes a significant proportion of children with presumptive diagnosis of androgen insensitivity syndrome (AIS) has normal AR gene; a significant number of children with presumptive diagnosis of AIS have mutations in SRD5A2 gene and are clinically and biochemically indistinguishable from AIS PMID: 24737579
30. homozygous mutation in exon 2 of SRD5A2 gene was identified in two 46,XY affected siblings raised as females. PMID: 22272144
31. SRD5A2 genotypes significantly affect breast cancer risk in the South Indian populations PMID: 24365257
32. a 32% increase in intraprostatic testosterone levels was observed in the presence of the high-risk SRD5A rs2208532 polymorphism PMID: 24277450
33. genetic association study in population of boys in China: Data suggest mutations in SRD5A2 [steroid-5a-reductase, alpha peptide 2] (and possibly SF1/NR5A1 [steroidogenic factor 1]; probably not AR [androgen receptor]) are associated with hypospadias. PMID: 23729601
34. Premature termination of SRD5A2 enzyme caused by insertion mutations in two unrelated microphallus patients. PMID: 24012728
35. the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower. PMID: 24244276
36. study suggest that SNPs in sex steroid related genes, known to affect gene expression (rs2747648 in ESR1) and enzymatic activity (Leu89Val in SRD5A2), seem to be associated with ALTs in a general population. PMID: 23867117
37. This review discusses the 5alpha-reductase-2 deficiency syndrome and its impact on human fertility. PMID: 24412121
38. a novel homozygous frame-shift mutation (c.453delC)in patients with ambiguous genitalia characterized by perineo-scrotal hypospadias, bifid scrotum, clitoris like phallus, palpable testes in inguinal canal and pseudovagina PMID: 23664981
39. Androgen-metaboliizing enzymes, 17betaHSD5 and 5alpha1 immunoreactivity was decreased in metastatic lymph nodes of breast cancers. PMID: 23953348
40. functional variation within SRD5A2 influences, in a sex-specific way, the severity of post-traumatic stress symptoms and risk for diagnosis of PTSD PMID: 23505265
41. V89L, but not A49T, polymorphism of SRD5A2 are not likely to have a major contribution to prostate cancer development. PMID: 23277398
42. The functionally relevant V89L SRD5A2 polymorphism is significantly implicated in alcohol craving in male patients during withdrawal. PMID: 22707254
43. study characterized clinical features and genetically analyzed the SRD5A2 gene in 3 Chinese steroid 5alpha-reductase type 2 deficiency patients; 2 compound heterozygous mutations in SRD5A2 gene were identified: p.G203S/p.R246Q in patients 1 and 2 and p.G203S/c.655delT in patient 3 PMID: 23329752
44. A heterozygous mutation of SRD5A2 was found in a patient with 46, XY disorders of sexual development. The same mutation was found in the mother. An intronic (1-2) homozygous T>C transition was also found; both parents had a heterozygous transition. PMID: 23112260
45. A missense mutation in exon 4 of SRD5A2 (resulting in amino acid substitution, E200K) has been identified in 4 sisters with 46, XY disorder of sex development; the sisters were born to consanguineous parents. [CASE REPORT] PMID: 22362597
46. SRD5A2 deficiency should be included in differential diagnosis of all newborns with 46,XY disorders of sex development with normal testosterone production before gender assignment. [REVIEW] PMID: 23044880
47. The rs13395648 TC genotype was associated with a significantly lower semen volume compared with the TT genotype. PMID: 22735779
48. The 5alphaR-positive apocrine carcinomas were clinicopathologically more aggressive than 5alphaR-negative cases. PMID: 22486281
49. Study identiflied a novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia. PMID: 22453073
50. result suggests that 46,XY DSD patient phenotypes may be influenced by SRD5A2 polymorphism genotypes. SRD5A2 gene mutations may not be as infrequent as previously considered in 46,XY DSD patients with variable degrees of external genitalia virilization PMID: 21631525

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HGNC: 11285

OMIM: 264600

KEGG: hsa:6716

UniGene: Hs.458345