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17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
HSD17B14 (Hydroxysteroid 17-Beta Dehydrogenase 14) is a Protein Coding gene. Diseases associated with HSD17B14 include Japanese Spotted Fever. Among its related pathways are Metabolism of steroid hormones and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is SDR9C7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004303 | estradiol 17-beta-dehydrogenase activity | IDA | 17067289 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0042802 | identical protein binding | IPI | 16189514 |
GO:0047045 | testosterone 17-beta-dehydrogenase (NADP+) activity | IDA | 17067289 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of steroid hormones | ||
2 | Metabolism |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006703 | estrogen biosynthetic process | TAS | -- |
GO:0006706 | steroid catabolic process | IDA | 17067289 |
GO:0008202 | steroid metabolic process | IEA | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NAD | Experimental | Pharma | Agonist, Full agonist, Activator | 0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HSD17B14 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HSD17B14 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HSD17B14 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hsd17b14 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hsd17b14 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HSD17B14 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HSD17B14 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100498205 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32139 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hsd17b14 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011852 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G51680 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0691600 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1400589983 | Uncertain Significance: Severe Myopia | 48,813,288(-) | C/T | MISSENSE_VARIANT | |
rs35299026 | - | p.Arg130Trp | |||
rs8110220 | - | p.Asn31Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2019e59 | CNV | duplication | 20981092 |
dgv226e215 | CNV | deletion | 23714750 |
esv1431206 | CNV | insertion | 17803354 |
esv2431202 | CNV | deletion | 19546169 |
esv2718691 | CNV | deletion | 23290073 |
esv2718692 | CNV | deletion | 23290073 |
esv6750 | CNV | loss | 19470904 |
nsv1141336 | CNV | duplication | 24896259 |
nsv833855 | CNV | loss | 17160897 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
japanese spotted fever |
|
|