HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)
2014-11-01 Affiliation
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: 80270
MIM: 607764
HGNC: 18324
Ensembl: ENSG00000099377
Variants:
dbSNP: 80270
ClinVar: 80270
TCGA: ENSG00000099377
COSMIC: HSD3B7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000099377 | ENST00000262520 | Q9H2F3 |
| ENSG00000099377 | ENST00000297679 | Q9H2F3 |
| ENSG00000099377 | ENST00000562932 | I3L2Q9 |
| ENSG00000099377 | ENST00000574447 | I3L2H6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166160055 | cholic acid | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34627351 | 2021 | Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China. | 3 |
| 34627351 | 2021 | Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China. | 3 |
| 29670816 | 2018 | The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese. | 3 |
| 29670816 | 2018 | The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese. | 3 |
| 26712441 | 2016 | Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis. | 9 |
| 26712441 | 2016 | Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis. | 9 |
| 26450365 | 2015 | Expression of steroid sulfated transporters and 3β-HSD activity in endometrium of women having polycystic ovary syndrome. | 5 |
| 26450365 | 2015 | Expression of steroid sulfated transporters and 3β-HSD activity in endometrium of women having polycystic ovary syndrome. | 5 |
| 22095780 | 2012 | Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology. | 10 |
| 22095780 | 2012 | Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology. | 10 |
| 20531254 | 2010 | Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency. | 5 |
| 21044367 | 2010 | An integrative method for scoring candidate genes from association studies: application to warfarin dosing. | 11 |
| 20531254 | 2010 | Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency. | 5 |
| 21044367 | 2010 | An integrative method for scoring candidate genes from association studies: application to warfarin dosing. | 11 |
Citation
Dessen P
HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64438/hsd3b7-(hydroxy-delta-5-steroid-dehydrogenase-3-beta-and-steroid-delta-isomerase-7)
