HSD3B2
entrez
3284
canonical
uniprot
P26439
canonical
ensembl
ENSG00000203859
resolver
ensp
ENSP00000358424
resolver
ensp
ENSP00000445122
resolver
genesymbol
HSD3B2
resolver
genesymbol_syn
HSDB3B
resolver
hgnc
HGNC:5218
resolver
uniprot
A2RRA5
resolver
uniprot
Q16010
resolver
uniprot
Q53GD4
resolver
uniprot
Q6AI10
resolver
uniprot
Q6LDB9
resolver
uniprot
Q99890
resolver
uniprot
Q9UD08
resolver
uniprot_entry
3BHS2_HUMAN
resolver
uniprot_sec
A2RRA5
resolver
uniprot_sec
Q16010
resolver
uniprot_sec
Q53GD4
resolver
uniprot_sec
Q6AI10
resolver
uniprot_sec
Q6LDB9
resolver
uniprot_sec
Q99890
resolver
uniprot_sec
Q9UD08
resolver
amino_acid_sequence
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
uniprot
proteins
disease_involvement
DISEASE: Adrenal hyperplasia 2 (AH2) [MIM:201810]: 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. {ECO:0000269|PubMed:10599696, ECO:0000269|PubMed:10651755, ECO:0000269|PubMed:10843183, ECO:0000269|PubMed:12050213, ECO:0000269|PubMed:18252794, ECO:0000269|PubMed:22579964, ECO:0000269|PubMed:25322271, ECO:0000269|PubMed:7608265, ECO:0000269|PubMed:7633426, ECO:0000269|PubMed:7633460, ECO:0000269|PubMed:7833923, ECO:0000269|PubMed:7893703, ECO:0000269|PubMed:7962268, ECO:0000269|PubMed:8060486, ECO:0000269|PubMed:8126127, ECO:0000269|PubMed:8185809, ECO:0000269|PubMed:8316254, ECO:0000269|PubMed:9719627}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion. {ECO:0000269|PubMed:14764797}.
uniprot
proteins
ec_number
1.1.1.145
uniprot
proteins
ec_number
5.3.3.1
uniprot
proteins
function
FUNCTION: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. {ECO:0000269|PubMed:1741954, ECO:0000269|PubMed:25322271}.
uniprot
proteins
mass_dalton
42052
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; steroid biosynthesis. {ECO:0000269|PubMed:25322271}.
uniprot
proteins
protein_family
3-beta-HSD family
uniprot
proteins
pubmed
10599696
uniprot
proteins
pubmed
10651755
uniprot
proteins
pubmed
10843183
uniprot
proteins
pubmed
12050213
uniprot
proteins
pubmed
1363812
uniprot
proteins
pubmed
14764797
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
1741954
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18252794
uniprot
proteins
pubmed
1944309
uniprot
proteins
pubmed
22579964
uniprot
proteins
pubmed
25322271
uniprot
proteins
pubmed
7588414
uniprot
proteins
pubmed
7608265
uniprot
proteins
pubmed
7633426
uniprot
proteins
pubmed
7633460
uniprot
proteins
pubmed
7833923
uniprot
proteins
pubmed
7893703
uniprot
proteins
pubmed
7962268
uniprot
proteins
pubmed
8060486
uniprot
proteins
pubmed
8126127
uniprot
proteins
pubmed
8185809
uniprot
proteins
pubmed
8316254
uniprot
proteins
pubmed
9719627
uniprot
proteins
sequence_length
372
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25322271}; Single-pass membrane protein {ECO:0000255}. Mitochondrion membrane; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 287..307; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins