HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)
2008-01-01 AffiliationIdentity
HGNC
LOCATION
1p12
LOCUSID
ALIAS
HSD3B,HSDB,SDR11E2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3284
MIM: 613890
HGNC: 5218
Ensembl: ENSG00000203859
Variants:
dbSNP: 3284
ClinVar: 3284
TCGA: ENSG00000203859
COSMIC: HSD3B2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37274334 | 2023 | High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. | 1 |
| 37274334 | 2023 | High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. | 1 |
| 36553457 | 2022 | Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia. | 1 |
| 36553457 | 2022 | Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia. | 1 |
| 29664547 | 2018 | HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis. | 9 |
| 29874863 | 2018 | Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing Adenomas and Adrenocortical Cells. | 1 |
| 29664547 | 2018 | HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis. | 9 |
| 29874863 | 2018 | Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing Adenomas and Adrenocortical Cells. | 1 |
| 27476613 | 2017 | Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. | 6 |
| 27670690 | 2017 | DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex. | 0 |
| 27476613 | 2017 | Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. | 6 |
| 27670690 | 2017 | DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex. | 0 |
| 27060902 | 2016 | Immunohistochemical analysis of steroidogenic enzymes in ovarian-type stroma of pancreatic mucinous cystic neoplasms: Comparative study of subepithelial stromal cells in intraductal papillary mucinous neoplasms of the pancreas. | 5 |
| 27082427 | 2016 | A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family. | 3 |
| 27060902 | 2016 | Immunohistochemical analysis of steroidogenic enzymes in ovarian-type stroma of pancreatic mucinous cystic neoplasms: Comparative study of subepithelial stromal cells in intraductal papillary mucinous neoplasms of the pancreas. | 5 |
Citation
Dessen P
HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)
Atlas Genet Cytogenet Oncol Haematol. 2008-01-01
Online version: http://atlasgeneticsoncology.org/gene/49968/hsd3b2
