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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:10825 | essential hypertension | |
| DOID:10892 | hypospadias | |
| DOID:11054 | urinary bladder cancer | |
| DOID:11383 | cryptorchidism | |
| DOID:11476 | osteoporosis | |
| DOID:11603 | infant gynecomastia | |
| DOID:11612 | polycystic ovary syndrome | |
| DOID:11613 | hyperandrogenism | |
| DOID:12028 | Conn's syndrome | |
| DOID:12252 | obsolete Cushing's syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008258 | Congenital adrenal hyperplasia |
| HP:0008665 | Clitoral hypertrophy |
| HP:0008707 | Absent scrotum |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype |
| HP:0008734 | Decreased testicular size |
| HP:0011749 | Adrenocorticotropic hormone excess |
| HP:0012041 | Decreased fertility in males |
| HP:0012411 | Premature pubarche |
| HP:0012412 | Premature adrenarche |
| HP:0012768 | Neonatal asphyxia |
| 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 |
|---|---|---|---|
| 100144358 | ORYLA09391 | ||
| 100534568 | ORENI21074 | ||
| 115587526 | SPAAU27622 | ||
| 109319128 | CROPO06112 | ||
| 113444507 | PSETE17207 | ||
| 103827136 | SERCA01145 | ||
| 100389654 | CALJA40569 | ||
| 100400416 | CALJA40550 | ||
| 105599597 | CERAT39241 | ||
| 712686 | MACMU21763 |
