HSD11B2
entrez
3291
canonical
uniprot
P80365
canonical
ensembl
ENSG00000176387
resolver
ensp
ENSP00000316786
resolver
enst
ENST00000326152
resolver
genesymbol
HSD11B2
resolver
genesymbol_syn
HSD11K
resolver
genesymbol_syn
SDR9C3
resolver
hgnc
HGNC:5209
resolver
uniprot
A7LB28
resolver
uniprot
C5HTY7
resolver
uniprot
Q13194
resolver
uniprot
Q6P2G9
resolver
uniprot
Q8N439
resolver
uniprot
Q96QN8
resolver
uniprot
Q99887
resolver
uniprot
Q9UC50
resolver
uniprot
Q9UC51
resolver
uniprot
Q9UCW5
resolver
uniprot
Q9UCW6
resolver
uniprot
Q9UCW7
resolver
uniprot
Q9UCW8
resolver
uniprot_entry
DHI2_HUMAN
resolver
uniprot_sec
A7LB28
resolver
uniprot_sec
C5HTY7
resolver
uniprot_sec
Q13194
resolver
uniprot_sec
Q6P2G9
resolver
uniprot_sec
Q8N439
resolver
uniprot_sec
Q96QN8
resolver
uniprot_sec
Q99887
resolver
uniprot_sec
Q9UC50
resolver
uniprot_sec
Q9UC51
resolver
uniprot_sec
Q9UCW5
resolver
uniprot_sec
Q9UCW6
resolver
uniprot_sec
Q9UCW7
resolver
uniprot_sec
Q9UCW8
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by glycyrrhetinic acid (derived from liquorice). {ECO:0000269|PubMed:7859916}.
uniprot
proteins
amino_acid_sequence
MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAVLAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAKKLDSMGFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWGLVNNAGHNEVVADAELSPVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAGDMPYPCLGAYGTSKAAVALLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYIEHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRRRFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPSPAVAR
uniprot
proteins
disease_involvement
DISEASE: Apparent mineralocorticoid excess (AME) [MIM:218030]: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. {ECO:0000269|PubMed:10489390, ECO:0000269|PubMed:10523339, ECO:0000269|PubMed:11238516, ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322, ECO:0000269|PubMed:7593417, ECO:0000269|PubMed:7608290, ECO:0000269|PubMed:7670488, ECO:0000269|PubMed:8538347, ECO:0000269|PubMed:9398712, ECO:0000269|PubMed:9661590, ECO:0000269|PubMed:9683587, ECO:0000269|PubMed:9851783}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.-
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of biologically active 11beta-hydroxyglucocorticoids (11beta-hydroxysteroid) such as cortisol, to inactive 11-ketoglucocorticoids (11-oxosteroid) such as cortisone, in the presence of NAD(+) (PubMed:10497248, PubMed:12788846, PubMed:17314322, PubMed:22796344, PubMed:23685396, PubMed:27927697, PubMed:30902677, PubMed:33387577, PubMed:7859916, PubMed:8538347). Functions as a dehydrogenase (oxidase), thereby decreasing the concentration of active glucocorticoids, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids (PubMed:10497248, PubMed:12788846, PubMed:17314322, PubMed:33387577, PubMed:7859916). Plays an important role in maintaining glucocorticoids balance during preimplantation and protects the fetus from excessive maternal corticosterone exposure (By similarity). Catalyzes the oxidation of 11beta-hydroxytestosterone (11beta,17beta-dihydroxyandrost-4-ene-3-one) to 11-ketotestosterone (17beta-hydroxyandrost-4-ene-3,11-dione), a major bioactive androgen (PubMed:22796344, PubMed:27927697). Catalyzes the conversion of 11beta-hydroxyandrostenedione (11beta-hydroxyandrost-4-ene-3,17-dione) to 11-ketoandrostenedione (androst-4-ene-3,11,17-trione), which can be further metabolized to 11-ketotestosterone (PubMed:23685396, PubMed:27927697). Converts 7-beta-25-dihydroxycholesterol to 7-oxo-25-hydroxycholesterol in vitro (PubMed:30902677). 7-beta-25-dihydroxycholesterol (not 7-oxo-25-hydroxycholesterol) acts as a ligand for the G protein-coupled receptor (GPCR) Epstein-Barr virus-induced gene 2 (EBI2) and may thereby regulate immune cell migration (PubMed:30902677). May protect ovulating oocytes and fertilizing spermatozoa from the adverse effects of cortisol (By similarity). Catalyzes the conversion of 7-beta-hydroxycholesterol into 7-ketocholesterol (7-oxocholesterol), a precursor of 7-keto,27-hydroxycholesterol, which activates smoothened (SMO) and the smoothened signaling pathway (By similarity). {ECO:0000250|UniProtKB:O77667, ECO:0000250|UniProtKB:P51661, ECO:0000269|PubMed:10497248, ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322, ECO:0000269|PubMed:22796344, ECO:0000269|PubMed:23685396, ECO:0000269|PubMed:27927697, ECO:0000269|PubMed:30902677, ECO:0000269|PubMed:33387577, ECO:0000269|PubMed:7859916, ECO:0000269|PubMed:8538347, ECO:0000303|PubMed:30902677}.
uniprot
proteins
mass_dalton
44127
uniprot
proteins
mutagenesis
MUTAGEN 115; /note="E->K,Q: Abolishes cofactor specificity."; /evidence="ECO:0000269|PubMed:11238516"; MUTAGEN 335; /note="R->A,Q: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:17314322"; MUTAGEN 335; /note="R->K: No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:17314322"; MUTAGEN 336; /note="R->A,Q: Almost complete loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17314322"; MUTAGEN 336; /note="R->K: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:17314322"; MUTAGEN 337; /note="R->A,Q: Almost complete loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17314322"; MUTAGEN 337; /note="R->K: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:17314322"; MUTAGEN 338; /note="Y->F,A: Complete loss of enzyme activity."; /evidence="ECO:0000269|PubMed:17314322"; MUTAGEN 339; /note="Y->A,F,H: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:17314322
uniprot
proteins
pathway_participation
PATHWAY: Steroid metabolism. {ECO:0000305}.
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
10489390
uniprot
proteins
pubmed
10497248
uniprot
proteins
pubmed
10523339
uniprot
proteins
pubmed
11238516
uniprot
proteins
pubmed
11350956
uniprot
proteins
pubmed
12788846
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17314322
uniprot
proteins
pubmed
22796344
uniprot
proteins
pubmed
23685396
uniprot
proteins
pubmed
27927697
uniprot
proteins
pubmed
2889032
uniprot
proteins
pubmed
30902677
uniprot
proteins
pubmed
33387577
uniprot
proteins
pubmed
7593417
uniprot
proteins
pubmed
7608290
uniprot
proteins
pubmed
7670488
uniprot
proteins
pubmed
7859916
uniprot
proteins
pubmed
8530071
uniprot
proteins
pubmed
8538347
uniprot
proteins
pubmed
8611140
uniprot
proteins
pubmed
8611186
uniprot
proteins
pubmed
9398712
uniprot
proteins
pubmed
9661590
uniprot
proteins
pubmed
9683587
uniprot
proteins
pubmed
9707624
uniprot
proteins
pubmed
9851783
uniprot
proteins
sequence_length
405
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Microsome {ECO:0000269|PubMed:17314322}. Endoplasmic reticulum {ECO:0000269|PubMed:10497248, ECO:0000269|PubMed:17314322}.
uniprot
proteins