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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:2848 | obsolete melancholia | |
| DOID:2871 | endometrial carcinoma | |
| DOID:288 | endometriosis of uterus | |
| DOID:289 | endometriosis | |
| DOID:3312 | bipolar disorder | |
| DOID:3571 | liver cancer | |
| DOID:3650 | lactic acidosis | |
| DOID:3763 | hermaphroditism | |
| DOID:3765 | pseudohermaphroditism | |
| DOID:3947 | adrenal gland hyperfunction |
- 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 |
|---|---|---|---|
| 115062043 | ECHNA12320 | ||
| 115403238 | SALFA51350 | ||
| 115403239 | SALFA51350 | ||
| 113485872 | ATHCN02317 | ||
| 109048590 | CYPCA50689 | ||
| 109052439 | CYPCA44801 | ||
| 103732007 | NANGA22841 | ||
| 103738837 | NANGA20994 | ||
| 103258418 | CARSF28717 | ||
| 115601668 | STRHB04992 |
