Gene
hsd17b4
- ID
- ZDB-GENE-040421-1
- Name
- hydroxysteroid (17-beta) dehydrogenase 4
- Symbol
- hsd17b4 Nomenclature History
- Previous Names
-
- Dbp (1)
- zgc:55545
- zgc:77300
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have oxidoreductase activity. Involved in embryonic organ development and neuron development. Human ortholog(s) of this gene implicated in D-bifunctional protein deficiency; Perrault syndrome; and Stiff-Person syndrome. Orthologous to human HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77300 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Kim et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| D-bifunctional protein deficiency | Alliance | D-bifunctional protein deficiency | 261515 |
| Perrault syndrome | Alliance | Perrault syndrome 1 | 233400 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020904 | Short-chain dehydrogenase/reductase, conserved site |
| Domain | IPR002539 | MaoC-like dehydratase domain |
| Domain | IPR003033 | SCP2 sterol-binding domain |
| Domain | IPR054357 | Peroxisomal multifunctional enzyme type 2-like, N-terminal domain |
| Family | IPR002347 | Short-chain dehydrogenase/reductase SDR |
| Family | IPR051687 | Peroxisomal Beta-Oxidation Enzymes |
| Homologous_superfamily | IPR029069 | HotDog domain superfamily |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
| Homologous_superfamily | IPR036527 | SCP2 sterol-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | HotDog domain superfamily | MaoC-like dehydratase domain | NAD(P)-binding domain superfamily | Peroxisomal Beta-Oxidation Enzymes | Peroxisomal multifunctional enzyme type 2-like, N-terminal domain | SCP2 sterol-binding domain | SCP2 sterol-binding domain superfamily | Short-chain dehydrogenase/reductase, conserved site | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PQQ8
|
749 | |||||||||
|
UniProtKB:Q8AYH1
|
725 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hsd17b4-201
(1)
|
Ensembl | 2,178 nt |
Interactions and Pathways
No data available
Plasmids