Gene table of HSD3B2 : hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with HSD3B2OMIM linkNumber of associated genesgenes
201810ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1HSD3B2

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Annotation of the gene HSD3B2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Ovarian steroidogenesishsa049137.07
Metabolic pathwayshsa011002.49
Steroid hormone biosynthesishsa001406.93
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Glucocorticoid biosynthesisR-HSA-1940029.81
MetabolismR-HSA-14307282.34
Mineralocorticoid biosynthesisR-HSA-19399310.4
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Androgen biosynthesisR-HSA-1930489.52
Metabolism of steroid hormones and vitamin DR-HSA-1960717.89
Associated GO terms for Molecular function
GO termGO IDGO IC
steroid dehydrogenase activityGO:00162296.34
oxidoreductase activity, acting on CH-OH group of donorsGO:00166144.83
isomerase activityGO:00168534.62
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptorGO:00166165.0
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptorGO:00337646.48
catalytic activityGO:00038241.05
3-beta-hydroxy-delta5-steroid dehydrogenase activityGO:00038547.95
steroid delta-isomerase activityGO:00047698.64
oxidoreductase activityGO:00164913.12
intramolecular oxidoreductase activity, transposing C=C bondsGO:00168637.17
intramolecular oxidoreductase activityGO:00168605.75