HSD3B2 Gene Summary [Human]
The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | HSD3B2 |
| Official Name | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Source:HGNC Symbol;Acc:HGNC:5218] |
| Ensembl ID | ENSG00000203859 |
| Bio databases IDs | |
| Aliases | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2, short chain dehydrogenase/reductase family 11E, member 2 |
| Synonyms | 3beta-HSD-2, 3beta hsdii, HSD3B, HSDB, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2, hydroxy-δ-5-steroid dehydrogenase, 3 β- and steroid δ-isomerase 2, SDR11E2 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HSD3B2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- Male sterility protein
- 3-beta hydroxysteroid dehydrogenase/isomerase family
- 3beta-hydroxy-delta5-steroid dehydrogenase
- NAD dependent epimerase/dehydratase family
- steroid D-isomerase
- enzyme
- protein binding
- NAD(P)H-binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- adenoma formation
- 3 beta hydroxysteroid dehydrogenase deficiency
- congenital adrenal hyperplasia
- polycystic ovary syndrome
- Cushing syndrome
- X-linked hypospadias 1
- aldosterone producing adrenocortical adenoma
role in cell
- binding in
- production in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- cilia
- Nucleus
- Endoplasmic Reticulum
- Mitochondria
- cytoplasmic bridges
- endoplasmic reticulum membrane
- mitochondrial membrane
- mitochondrial intermembrane space
- mitochondrial inner membrane
- nuclear pores
- nucleoli
- smooth endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSD3B2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to corticosterone stimulus
- androgen biosynthetic process
- hippocampus development
- steroid biosynthetic process
- C21-steroid hormone metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intercellular bridge
- mitochondrial intermembrane space
- smooth endoplasmic reticulum membrane
- mitochondrial membrane
- cytoplasm
- intracellular membrane-bounded organelle
- membrane
- endoplasmic reticulum
- nucleolus
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- 3-beta-hydroxy-delta5-steroid dehydrogenase activity
- protein binding
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
- steroid delta-isomerase activity