HSD3B2

HSD3B2
Identifiers
Aliases	HSD3B2, HSD3B, HSDB, SDR11E2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
External IDs	OMIM: 613890; MGI: 96233; HomoloGene: 69149; GeneCards: HSD3B2; OMA:HSD3B2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	119,423,035 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	98,767,110 bp
RNA expression pattern
	Top expressed in
	right adrenal gland; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; testicle; ; oocyte; ; mucosa of transverse colon; ; placenta; ; secondary oocyte; ; right coronary artery;
	Top expressed in
	adrenal gland; ; cumulus cell; ; Gonadal ridge; ; adrenal medulla; ; ovary; ; testicle; ; urethra; ; spermatocyte; ; renal pelvis; ; embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; isomerase activity; catalytic activity; oxidoreductase activity; 3-beta-hydroxy-delta5-steroid dehydrogenase activity; steroid delta-isomerase activity; cholesterol dehydrogenase activity;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; mitochondrial membranes; membrane; mitochondrial intermembrane space; smooth endoplasmic reticulum membrane; endoplasmic reticulum; mitochondrion; mitochondrial inner membrane; intracellular membrane-bounded organelle;
Biological process	androgen biosynthetic process; glucocorticoid biosynthetic process; mineralocorticoid biosynthetic process; metabolism; steroid biosynthetic process; C21-steroid hormone metabolic process; hippocampus development; response to corticosterone;
	Sources:Amigo / QuickGO
Orthologs
	3284
	15492
	ENSG00000203859
	ENSMUSG00000027871
	P26439; Q5QP01
	P24815
	NM_001166120; NM_000198
	NM_008293; NM_001304800
	NP_000189; NP_001159592
	NP_001291729; NP_032319
	Wikidata
View/Edit Human	View/Edit Mouse

HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. It is expressed principally in steroidogenic tissues and is essential for steroid hormone production. A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.

Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.