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hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Summary

Gene Symbol

HSD3B2

Aliases

SDR11E2
short chain dehydrogenase/reductase family 11E, member 2

Organism

Homo sapiens (human)

External Links

NCBI Gene

3284

HGNC

5218

KEGG Gene ID

hsa:3284

PubChem

3284

Alliance of Genome Resources

HGNC:5218

JoGo

HSD3B2

TogoVar

HSD3B2

Annotation

Keyword

Alternative splicing
Congenital adrenal hyperplasia
Disease variant
Endoplasmic reticulum
Isomerase
Lipid metabolism
Mitochondrion
Multifunctional enzyme
NAD
Oxidoreductase
Proteomics identification
Reference proteome
Steroidogenesis
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
P26439	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II 3-beta-HSD adrenal and gonadal type

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
steroid biosynthetic process	IDA
steroid biosynthetic process	IMP
steroid biosynthetic process	IBA
steroid biosynthetic process	IEA
androgen biosynthetic process	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

hormone biosynthetic process [inference]

androgen biosynthetic process

hormone metabolic process [inference]

C21-steroid hormone metabolic process

androgen metabolic process [inference]

androgen biosynthetic process

hormone biosynthetic process [inference]

androgen biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

C21-steroid hormone metabolic process

androgen metabolic process [inference]

androgen biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

biological regulation [inference]

regulation of biological quality [inference]

regulation of hormone levels [inference]

hormone metabolic process [inference]

C21-steroid hormone metabolic process

androgen metabolic process [inference]

androgen biosynthetic process

hormone biosynthetic process [inference]

androgen biosynthetic process

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GO Term	Evidence Code	PMID
nucleolus
cytoplasm	IBA
mitochondrial inner membrane	ISS
mitochondrial intermembrane space	ISS
endoplasmic reticulum	NAS

GO Hierarchy

cellular component

cellular anatomical structure [inference]

cytoplasm

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

smooth endoplasmic reticulum membrane

organelle inner membrane [inference]

mitochondrial inner membrane

mitochondrial membrane

mitochondrial inner membrane

bounding membrane of organelle [inference]

smooth endoplasmic reticulum membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

organelle envelope lumen [inference]

mitochondrial intermembrane space

ciliary transition zone

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

organelle [inference]

membrane-bounded organelle [inference]

cilium

intracellular membrane-bounded organelle

endoplasmic reticulum

membraneless organelle [inference]

intracellular membraneless organelle [inference]

nucleolus

cytoskeleton [inference]

microtubule cytoskeleton

intracellular organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

intracellular membraneless organelle [inference]

nucleolus

cytoskeleton [inference]

microtubule cytoskeleton

intercellular bridge

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	IDA
3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	IMP
3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	IEA
steroid Delta-isomerase activity	IDA
steroid Delta-isomerase activity	IMP

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]

3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity

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

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

3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity

isomerase activity [inference]

intramolecular oxidoreductase activity [inference]

intramolecular oxidoreductase activity, transposing C=C bonds [inference]

steroid Delta-isomerase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase

Functional Category

M: Cell wall/membrane/envelope biogenesis
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 5** entries
Gene Ontology
3-beta-hydroxy-delta5-steroid dehydrogenase activity
isomerase activity
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
oxidoreductase activity
steroid biosynthetic process

Displaying **all 2** entries
InterPro
3-beta hydroxysteroid dehydrogenase/isomerase
NAD(P)-binding domain superfamily

Human Protein Atlas

ENSG00000203859

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00070

Name

3beta-hydroxy-Delta5-steroid dehydrogenase / steroid Delta-isomerase [EC:1.1.1.145 5.3.3.1]

References

2243100

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:10892	hypospadias	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000033	Ambiguous genitalia, male
HP:0000037	Male pseudohermaphroditism
HP:0000047	Hypospadias
HP:0000048	Bifid scrotum
HP:0000051	Perineal hypospadias
HP:0000054	Micropenis
HP:0000061	Ambiguous genitalia, female

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:201810	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
ORPHA:90791	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency