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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

Annotation

Keyword

Alternative splicing
Congenital adrenal hyperplasia
Disease variant
Endoplasmic reticulum
Isomerase
Lipid metabolism
Mitochondrion
Multifunctional enzyme
NAD
Oxidoreductase
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 **all 5** entries
GO Term	Evidence Code	PMID
hippocampus development	IBA
response to corticosterone	IBA
androgen biosynthetic process	IMP	25322271
steroid biosynthetic process	IBA IDA IMP	1944309 25322271
C21-steroid hormone metabolic process	IBA

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

hormone biosynthetic process [inference]

androgen biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid 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

organic substance 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

organic cyclic compound 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

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

androgen biosynthetic process

cellular process [inference]

C21-steroid hormone metabolic process

developmental process [inference]

anatomical structure development [inference]

hippocampus development

response to stimulus [inference]

response to endogenous stimulus [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid [inference]

response to corticosterone

response to mineralocorticoid [inference]

response to corticosterone

response to chemical [inference]

response to organic substance [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid [inference]

response to corticosterone

response to mineralocorticoid [inference]

response to corticosterone

response to organic cyclic compound [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid [inference]

response to corticosterone

response to mineralocorticoid [inference]

response to corticosterone

response to lipid [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid [inference]

response to corticosterone

response to mineralocorticoid [inference]

response to corticosterone

response to alcohol [inference]

response to corticosterone

response to ketone [inference]

response to corticosterone

response to oxygen-containing compound [inference]

response to alcohol [inference]

response to corticosterone

response to ketone [inference]

response to corticosterone

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

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

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GO Term	Evidence Code	PMID
intercellular bridge	IDA

GO Hierarchy

cellular component

cellular anatomical entity [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

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

nucleolus

intracellular organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

intracellular non-membrane-bounded organelle [inference]

nucleolus

intercellular bridge

Displaying **all 4** entries
GO Term	Evidence Code	PMID
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
3-beta-hydroxy-delta5-steroid dehydrogenase activity	IDA IMP	1944309 25322271
protein binding	IPI	32814053
steroid delta-isomerase activity	IDA IMP	1944309 25322271

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 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 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.

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 entries **11 - 20** of 51 in total

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DO ID	Disease Name	Source
DOID:10825	essential hypertension	DisGeNET DisGeNET
DOID:10892	hypospadias	DisGeNET Alliance of Genome Resources
DOID:11054	urinary bladder cancer	DisGeNET DisGeNET DisGeNET
DOID:11383	cryptorchidism	DisGeNET DisGeNET DisGeNET
DOID:11476	osteoporosis	DisGeNET
DOID:11603	infant gynecomastia	DisGeNET
DOID:11612	polycystic ovary syndrome	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11613	hyperandrogenism	DisGeNET
DOID:12028	Conn's syndrome	DisGeNET
DOID:12252	obsolete Cushing's syndrome	DisGeNET

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

PubChem Disease

GHR Health Conditions

3-beta-hydroxysteroid dehydrogenase deficiency

MedGen Diseases

3 beta-Hydroxysteroid dehydrogenase deficiency

OMIM Phenotypes

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY

KEGG Diseases

Congenital adrenal hyperplasia

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002194
Gene Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	39918	FB:FBgn0036698
Callorhinchus milii	103180179		CALMI19670
Latimeria chalumnae	102345588		LATCH10712
Danio rerio	373131	ZFIN:ZDB-GENE-030828-2	DANRE19159
Danio rerio	553532	ZFIN:ZDB-GENE-081105-30	DANRE44074
Astyanax mexicanus	103027852		ASTMX09819
Ictalurus punctatus	100304475		ICTPU30553
Electrophorus electricus	113587753		ELEEL39621
Salmo trutta	115161098		SALTR16062
Gadus morhua	115533088		GADMO29243

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements