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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 |
|---|---|---|
| mitochondrial membrane |
|
|
| mitochondrial intermembrane space | ||
| membrane |
|
|
| smooth endoplasmic reticulum membrane | ||
| nucleolus |
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:0000007 | Autosomal recessive inheritance |
| HP:0000027 | Azoospermia |
| HP:0000028 | Cryptorchidism |
| HP:0000033 | Ambiguous genitalia, male |
| HP:0000037 | Male pseudohermaphroditism |
| HP:0000047 | Hypospadias |
| HP:0000048 | Bifid scrotum |
| HP:0000051 | Perineal hypospadias |
| HP:0000054 | Micropenis |
| HP:0000061 | Ambiguous genitalia, female |
| 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 |
|---|---|---|---|
| 105479084 | MACNE25278 | ||
| 101019096 | PAPAN17696 | ||
| 105541296 | MANLE35783 | ||
| 101146563 | GORGO21142 | ||
| 457165 | PANTR21877 | ||
| 100452394 | PONAB16883 | ||
| 483146 | CANLF05309 | ||
| 112916789 | VULVU09564 | ||
| 100464280 | AILME03336 | ||
| 100616070 | FELCA19208 |
