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hydroxysteroid 17-beta dehydrogenase 3

Summary

Gene Symbol

HSD17B3

Aliases

SDR12C2
short chain dehydrogenase/reductase family 12C, member 2

Organism

Homo sapiens (human)

External Links

NCBI Gene

3293

HGNC

5212

KEGG Gene ID

hsa:3293

PubChem

3293

Alliance of Genome Resources

HGNC:5212

Annotation

Keyword

Alternative splicing
Disease variant
Endoplasmic reticulum
NADP
Oxidoreductase
Pseudohermaphroditism
Reference proteome
Steroid biosynthesis

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q6FH62
P37058	Estradiol 17-beta-dehydrogenase 2 Short chain dehydrogenase/reductase family 12C member 2 Testicular 17-beta-hydroxysteroid dehydrogenase Testosterone 17-beta-dehydrogenase 3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
testosterone biosynthetic process	IEA
steroid biosynthetic process	IBA
androgen biosynthetic process
male genitalia development		8075637

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

hormone biosynthetic process [inference]

androgen biosynthetic process

cellular biosynthetic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

small molecule biosynthetic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

ketone biosynthetic process [inference]

testosterone biosynthetic process

olefinic compound biosynthetic process [inference]

testosterone biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

organic hydroxy compound biosynthetic process [inference]

testosterone biosynthetic process

hormone metabolic process [inference]

androgen metabolic process [inference]

androgen biosynthetic process

hormone biosynthetic process [inference]

androgen biosynthetic process

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

cellular biosynthetic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

androgen metabolic process [inference]

androgen biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

small molecule metabolic process [inference]

cellular ketone metabolic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

small molecule biosynthetic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

androgen metabolic process [inference]

androgen biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

cellular ketone metabolic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

olefinic compound metabolic process [inference]

olefinic compound biosynthetic process [inference]

testosterone biosynthetic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

androgen metabolic process [inference]

androgen biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

ketone biosynthetic process [inference]

testosterone biosynthetic process

olefinic compound biosynthetic process [inference]

testosterone biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

testosterone biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

organic hydroxy compound biosynthetic process [inference]

testosterone biosynthetic process

organic hydroxy compound metabolic process [inference]

organic hydroxy compound biosynthetic process [inference]

testosterone biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

cellular biosynthetic process [inference]

ketone biosynthetic process [inference]

testosterone biosynthetic process

reproductive process [inference]

developmental process involved in reproduction [inference]

reproductive structure development [inference]

genitalia development [inference]

male genitalia development

developmental process [inference]

developmental process involved in reproduction [inference]

reproductive structure development [inference]

genitalia development [inference]

male genitalia development

anatomical structure development [inference]

animal organ development [inference]

genitalia development [inference]

male genitalia development

reproductive structure development [inference]

genitalia development [inference]

male genitalia development

system development [inference]

reproductive system development [inference]

male genitalia development

biological regulation [inference]

regulation of biological quality [inference]

regulation of hormone levels [inference]

hormone metabolic process [inference]

androgen metabolic process [inference]

androgen biosynthetic process

hormone biosynthetic process [inference]

androgen biosynthetic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane
intracellular membrane-bounded organelle		8075637
endoplasmic reticulum	IBA IDA	26545797

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

Displaying **all 5** entries
GO Term	Evidence Code	PMID
protein binding	IPI	28514442 33961781
17-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA
estradiol 17-beta-dehydrogenase [NAD(P)] activity	IEA
testosterone 17-beta-dehydrogenase (NADP+) activity	IBA IDA	26545797
testosterone dehydrogenase [NAD(P)] activity

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

steroid dehydrogenase activity [inference]

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

oxidoreductase activity, acting on CH-OH group of donors [inference]

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

dehydrogenase

Functional Category

E: Amino acid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
ketoreductase activity
oxidoreductase activity

Displaying **all 3** entries
InterPro
NAD(P)-binding domain superfamily
Short-chain dehydrogenase/reductase SDR
Short-chain dehydrogenase/reductase, conserved site

KEGG BRITE Database

Orthology

K10207

Name

testosterone 17beta-dehydrogenase (NADP+) [EC:1.1.1.64]

References

Rhea

RHEA:24612

17β-estradiol + NAD⁺

H⁺ + estrone + NADH

Enzyme

1.1.1.62

PMID

RHEA:24616

17β-estradiol + NADP⁺

H⁺ + estrone + NADPH

Enzyme

1.1.1.62

PMID

RHEA:14981

testosterone + NADP⁺

H⁺ + androst-4-ene-3,17-dione + NADPH

Enzyme

PMID

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency	Alliance of Genome Resources
DOID:10652	Alzheimer's disease	Alliance of Genome Resources
DOID:1923	disorder of sexual development	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus	Alliance of Genome Resources
DOID:9970	obesity	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 11 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000037	Male pseudohermaphroditism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000062	Ambiguous genitalia
HP:0000771	Gynecomastia
HP:0000789	Infertility
HP:0000795	Abnormality of the urethra
HP:0000821	Hypothyroidism
HP:0001939	Abnormality of metabolism/homeostasis

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:264300	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
ORPHA:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

PubChem Disease

GHR Health Conditions

17-beta hydroxysteroid dehydrogenase 3 deficiency

MedGen Diseases

Testosterone 17-beta-dehydrogenase deficiency

OMIM Phenotypes

17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY

KEGG Diseases

46,XY disorder of sex development due to testosterone secretion defect

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000022
Gene Name: hydroxysteroid (17-beta) dehydrogenase 3

Ortholog

Displaying entries **1 - 10** of 73 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	15487	MGI:107177	MOUSE12251
Drosophila melanogaster	31703	FB:FBgn0029975
Rattus norvegicus	117182	RGD:621805	RATNO13082
Caenorhabditis elegans	175895	WB:WBGene00002891
Caenorhabditis elegans	182291	WB:WBGene00007363
Caenorhabditis elegans	182292	WB:WBGene00007364
Caenorhabditis elegans	184337	WB:WBGene00008678
Caenorhabditis elegans	184934	WB:WBGene00006435
Danio rerio	393335	ZFIN:ZDB-GENE-040426-1339	DANRE42870
Bos taurus	616934		BOVIN34916

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Other Information

Tools

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Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements