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hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Summary
- Gene Symbol
-
- HSD3B2
- Aliases
-
- SDR11E2
- short chain dehydrogenase/reductase family 11E, member 2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Congenital adrenal hyperplasia
- Disease variant
- Endoplasmic reticulum
- Isomerase
- Lipid metabolism
- Mitochondrion
- Multifunctional enzyme
- NAD
- Oxidoreductase
- Reference proteome
- Steroidogenesis
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| P26439 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| hippocampus development | ||
| response to corticosterone | ||
| androgen biosynthetic process | ||
| steroid biosynthetic process | ||
| C21-steroid hormone metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| endoplasmic reticulum | ||
| mitochondrial inner membrane | ||
| cytoplasm | ||
| endoplasmic reticulum membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | ||
| 3-beta-hydroxy-delta5-steroid dehydrogenase activity | ||
| protein binding | ||
| steroid delta-isomerase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050457 | Sertoli cell-only syndrome | |
| DOID:0050811 | congenital adrenal hyperplasia | |
| DOID:0070189 | X-linked spermatogenic failure 1 | |
| DOID:0090091 | hypogonadotropic hypogonadism 23 with or without anosmia | |
| DOID:10283 | prostate cancer | |
| DOID:10286 | prostate carcinoma | |
| DOID:10591 | pre-eclampsia | |
| DOID:10652 | Alzheimer's disease | |
| DOID:10688 | hypertrophy of breast | |
| DOID:10763 | hypertension |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000062 | Ambiguous genitalia |
| HP:0000127 | Renal salt wasting |
| HP:0000771 | Gynecomastia |
| HP:0000808 | Penoscrotal hypospadias |
| HP:0000846 | Adrenal insufficiency |
| HP:0000848 | Increased circulating renin level |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0001007 | Hirsutism |
| HP:0001263 | Global developmental delay |
| HP:0001508 | Failure to thrive |
| Disease ID | Disease Name |
|---|---|
| OMIM:201810 |
|
| ORPHA:90791 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002194
- Gene Name
- hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 360348 | RATNO25442 | ||
| 682974 | RGD:1592771 | RATNO25434 | |
| 100379573 | CAVPO01507 | ||
| 101581644 | OCTDE24699 | ||
| 101582290 | OCTDE24700 | ||
| 101872451 | MELUD13113 | ||
| 100012668 | MONDO14336 | ||
| 103677123 | URSMA30151 | ||
| 113888503 | BOBOX08335 | ||
| 100966795 | OTOGA08625 |
