SRD5A2 Gene Summary [Human]
This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SRD5A2 |
| Official Name | steroid 5 alpha-reductase 2 [Source:HGNC Symbol;Acc:HGNC:11285] |
| Ensembl ID | ENSG00000277893 |
| Bio databases IDs | |
| Aliases | steroid 5 alpha-reductase 2, 3-oxo-5-alpha-steroid 4-dehydrogenase 2 |
| Synonyms | 5alpha-R2, 5-alpha-reductase 2, 5alpha-reductase type 2, 5ART2, 5-α-reductase 2, 5 α reductase type ii, S5AR 2, SDR5A2, steroid 5 alpha-reductase 2, steroid 5 α-reductase 2 |
| Species | Human, Homo sapiens |
| Orthologies |
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 SRD5A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3(or 17)beta-hydroxysteroid dehydrogenase
- 3-oxo-5alpha-steroid 4-dehydrogenase
- 3-oxo-5-alpha-steroid 4-dehydrogenase
- binding protein
- cholestenone 5alpha-reductase
- enzyme
- protein binding
- Isoprenylcysteine carboxyl methyltransferase (ICMT) family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- epithelial cancer
- hepatocellular carcinoma
- liver cancer
- sleep apnea syndrome
- 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- prostate cancer
- benign prostatic hyperplasia
- androgenic alopecia
- male pattern hair loss
role in cell
- lipogenesis 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
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- neurites
- microsomal membrane
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SRD5A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- biphenyl metabolic process
- male gonad development
- cell-cell signaling
- hippocampus development
- hypothalamus development
- response to steroid hormone stimulus
- response to xenobiotic stimulus
- steroid biosynthetic process
- response to peptide hormone stimulus
- bone development
- androgen metabolic process
- androgen biosynthetic process
- male genitalia development
- steroid catabolic process
- cell differentiation
- response to follicle-stimulating hormone stimulus
- female genitalia development
- response to testosterone stimulus
- dibenzo-p-dioxin metabolic process
- testosterone biosynthetic process
- phthalate metabolic process
- response to nutrient levels
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cell body fiber
- neuronal cell body
Molecular Function
What the gene product does at the molecular level
- 3-oxo-5-alpha-steroid 4-dehydrogenase activity
- protein binding
- cholestenone 5-alpha-reductase activity
- testosterone dehydrogenase [NAD(P)] activity
- amide binding