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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

JoGo

HSD17B3

TogoVar

HSD17B3

Annotation

Keyword

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

Proteins

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

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
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
oxidoreductase activity

Displaying **all 2** entries
InterPro
NAD(P)-binding domain superfamily
Short-chain dehydrogenase/reductase SDR

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: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

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 entry **11 - 11** of 11 in total

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HPO ID	HPO Term
HP:0008730	Female external genitalia in individual with 46,XY karyotype

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