Gene
hsd3b7
- ID
- ZDB-GENE-030131-5673
- Name
- hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase
- Symbol
- hsd3b7 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in oxidation-reduction process and steroid biosynthetic process. Human ortholog(s) of this gene implicated in congenital bile acid synthesis defect 1 and intrahepatic cholestasis. Is expressed in several structures, including adenohypophysis; digestive system; lens; macrophage; and solid lens vesicle. Orthologous to human HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55799 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital bile acid synthesis defect 1 | Alliance | Bile acid synthesis defect, congenital, 1 | 607765 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | 3-beta hydroxysteroid dehydrogenase/isomerase | NAD(P)-binding domain superfamily |
|---|---|---|---|
|
UniProtKB:F1QEV3
|
368 | ||
|
UniProtKB:Q7ZVQ1
|
368 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hsd3b7-202
(1)
|
Ensembl | 1,784 nt | ||
| mRNA |
hsd3b7-203
(1)
|
Ensembl | 1,778 nt | ||
| ncRNA |
hsd3b7-002
(1)
|
Ensembl | 1,130 nt |
Interactions and Pathways
No data available
Plasmids
No data available