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HSD17B13 (Hydroxysteroid 17-Beta Dehydrogenase 13) is a Protein Coding gene. Diseases associated with HSD17B13 include Benign Meningioma and Pseudohermaphroditism. Among its related pathways are Metabolism and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is HSD17B11.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0016229 | steroid dehydrogenase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005811 | lipid droplet | IDA | 25028495 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Lipoprotein metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0034389 | lipid droplet organization | TAS | -- |
GO:0046889 | positive regulation of lipid biosynthetic process | IDA | 25028495 |
GO:0055114 | oxidation-reduction process | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HSD17B13 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HSD17B13 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HSD17B13 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hsd17b13 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hsd17b13 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | SDR16C5 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hsd17b13 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-7k24.6 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG15629 31 |
|
ManyToMany | |
CG9265 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | dhs-29 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
ManyToMany | |
TDA5 31 33 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711909 | Benign: not provided | 87,305,285(-) | G/A | MISSENSE_VARIANT | |
711910 | Benign: not provided | 87,310,339(-) | G/A | MISSENSE_VARIANT | |
775996 | Benign: not provided | 87,315,607(-) | A/C | INTRON_VARIANT | |
780485 | Benign: not provided | 87,310,276(-) | G/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1012e214 | CNV | loss | 21293372 |
esv2667644 | CNV | deletion | 23128226 |
esv2760913 | CNV | loss | 21179565 |
esv3601271 | CNV | loss | 21293372 |
esv3601272 | CNV | loss | 21293372 |
nsv1002789 | CNV | loss | 25217958 |
nsv1004518 | CNV | gain | 25217958 |
nsv293508 | CNV | deletion | 16902084 |
nsv4412 | CNV | deletion | 18451855 |
nsv470050 | CNV | loss | 18288195 |
nsv516203 | CNV | loss | 19592680 |
nsv525583 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
benign meningioma |
|
|
pseudohermaphroditism |
|
|
mucopolysaccharidosis iii |
|
|