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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
steroid biosynthetic process	IBA
androgen biosynthetic process	TAS
male genitalia development	TAS	8075637
testosterone biosynthetic process	IEA

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 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA	26545797
endoplasmic reticulum	IBA
endoplasmic reticulum membrane	TAS
intracellular membrane-bounded organelle	TAS	8075637

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
estradiol 17-beta-dehydrogenase [NAD(P)] activity	IEA
protein binding	IPI	28514442 33961781
testosterone dehydrogenase [NAD(P)] activity	TAS
testosterone 17-beta-dehydrogenase (NADP+) activity	IDA	26545797
testosterone 17-beta-dehydrogenase (NADP+) activity	IBA

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:14981

testosterone + NADP⁺

H⁺ + androst-4-ene-3,17-dione + NADPH

Enzyme

PMID

RHEA:24616

17β-estradiol + NADP⁺

H⁺ + estrone + NADPH

Enzyme

1.1.1.62

PMID

RHEA:24612

17β-estradiol + NAD⁺

H⁺ + estrone + NADH

Enzyme

1.1.1.62

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency	Alliance of Genome Resources
DOID:1923	disorder of sexual development	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 **11 - 20** of 64 in total

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Species	Gene ID	Orthologous MAtrix
Callithrix jacchus	100414334	CALJA18909
Pongo abelii	100433175	PONAB36437
Ailuropoda melanoleuca	100468038	AILME02224
Sus scrofa	100513224	PIGXX00363
Nomascus leucogenys	100584015	NOMLE17062
Loxodonta africana	100661701	LOXAF16888
Oreochromis niloticus	100700736	ORENI11184
Cavia porcellus	100728042	CAVPO15720
Sarcophilus harrisii	100935109	SARHA16943
Otolemur garnettii	100959910	OTOGA17799

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements