HSD3B2

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.^[5] It is expressed principally in steroidogenic tissues and is essential for steroid hormone production.^[6] A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.

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)[1] Band 1p12 Start 119,414,931 bp[1] End 119,423,035 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.2|3 42.89 cM Start 98,759,510 bp[2] End 98,767,110 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 3284 15492 Ensembl ENSG00000203859 ENSMUSG00000027871 UniProt P26439 Q5QP01 P24815 RefSeq (mRNA) NM_001166120 NM_000198 NM_008293 NM_001304800 RefSeq (protein) NP_000189 NP_001159592 NP_001291729 NP_032319 Location (UCSC) Chr 1: 119.41 – 119.42 Mb Chr 3: 98.76 – 98.77 Mb PubMed search [3] [4]
Wikidata
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Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.