Entity Details

Primary name HSD3B2
Entity type gene
Source Source Link

Details

PrimaryID3284
RefseqGeneNG_013349
SymbolHSD3B2
Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Chromosome1
Location1p12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1992-10-07
ModificationDate2021-06-11

Ontological Relatives

UniProt IDs3BHS2_HUMAN

GO terms

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GOName
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0004769 steroid delta-isomerase activity
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005743 mitochondrial inner membrane
GO:0005758 mitochondrial intermembrane space
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006694 steroid biosynthetic process
GO:0006702 androgen biosynthetic process
GO:0006704 glucocorticoid biosynthetic process
GO:0006705 mineralocorticoid biosynthetic process
GO:0008207 C21-steroid hormone metabolic process
GO:0016021 integral component of membrane
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0021766 hippocampus development
GO:0030868 smooth endoplasmic reticulum membrane
GO:0031966 mitochondrial membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0045171 intercellular bridge
GO:0051412 response to corticosterone
GO:0102294 cholesterol dehydrogenase activity

Diseases

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Disease IDSourceNameDescription
201810 OMIMAdrenal hyperplasia 2 (AH2)A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life. The disease is caused by variants affecting the gene represented in this entry.