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HSD3B2

From SNPedia

is agene
is mentioned by
Full namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
EntrezGene3284
PheGenI3284
VariationViewer3284
ClinVarHSD3B2
dbSNP3284
SADR3284
HugeNav3284
wikipediaHSD3B2
googleHSD3B2
gopubmedHSD3B2
EVSHSD3B2
HEFalMpHSD3B2
MyGene2HSD3B2
23andMeHSD3B2
UniProtP26439
EnsemblENSG00000203859
OMIM613890
# SNPs17
 Max MagnitudeChromosome positionSummary
I5003810
I5003811
I5003813
I5003815
rs1219648967119,422,243
rs1219648977119,422,523
rs18196980119,422,896
rs28549640119,418,756
rs289348807119,415,448
rs7671676237119,422,368
rs7708150497119,422,056
rs803582167119,422,013
rs803582177119,422,246
rs803582187119,422,620
rs803582197119,421,925
rs803582207119,422,165
rs803582217119,422,277

The HSD3B2 gene encodes the 3-beta-hydroxysteroid dehydrogenase (3β-HSD) enzyme. This enzyme is found in the gonads, which are the ovaries in females and testes in males, and in the adrenal glands, which are located on top of the kidneys. Within these hormone-producing tissues, the 3β-HSD enzyme is necessary for the production of many hormones, including cortisol, aldosterone, androgens, and estrogen.Genetics Home Reference

HSD3B2 mutations may cause 3-beta-hydroxysteroid dehydrogenase (3BHSD) deficiency, a form of congenital adrenal hyperplasia. ClinVar mutations indicated as pathogenic for 3BHSD include:

rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs767167623 c.867delG 613890.0010
rs770815049 c.555_556insC, p.Thr187Hisfs 613890.0002
rs28934880 rs28934880 c.29C>A, p.Ala10Glu, A10E 613890.0005 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2
rs80358219 i5003813 c.424G>A, p.Glu142Lys, E142K 613890.0007 Ancestry v2
rs80358216 c.512G>A, p.Trp171Ter, W171X 613890.0001 Ancestry v2
rs80358220 c.664C>A, p.Pro222Thr, P222T 613890.0008 Ancestry v2
rs121964896 c.742_743delGTinsAA, p.Val248Asn, V248N 613890.0003
rs80358217 i5003815 c.745C>T, p.Arg249Ter, R249X 613890.0004 Ancestry v2
rs80358221 i5003811 c.776C>T, p.Thr259Met, T259M 613890.0009 Ancestry v2
rs121964897 i5003810 c.1022C>T, p.Pro341Leu, P341L 613890.0011 Ancestry v2
rs80358218 c.1119A>C, p.Ter373Cys, X373C 613890.0006 Ancestry v2