| Gene ID | 3291 |
| Symbol | HSD11B2 |
| Synonymous | AME|AME1|HSD11K|HSD2|SDR9C3 |
| Full name | hydroxysteroid (11-beta) dehydrogenase 2 |
| Gene description | -HSD11 type II|11-DH2|11-beta-HSD2|11-beta-hydroxysteroid dehydrogenase type 2|11-beta-hydroxysteroid dehydrogenase type II|NAD-dependent 11-beta-hydroxysteroid dehydrogenase|corticosteroid 11-beta-dehydrogenase isozyme 2|short chain dehydrogenase/reducta |
| Cytoband | 16q22 |
| Gene type | protein-coding |
| Synonymous | MIM:614232; HGNC:HGNC:5209; Ensembl:ENSG00000176387; HPRD:01958; Vega:OTTHUMG00000137507 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.643G>A; p.V215M; 16:67436121-67436121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1017C>G; p.Y339*; 16:67436802-67436802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1017C>G; p.Y339*; 16:67436802-67436802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.850C>T; p.L284L; 16:67436635-67436635 |
kidney | other; neoplasm | Substitution - coding silent |
c.1007G>A; p.R336H; 16:67436792-67436792 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.698G>T; p.G233V; 16:67436282-67436282 |
breast | carcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 16:67436867-67436867 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.336C>T; p.T112T; 16:67435698-67435698 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.880G>C; p.A294P; 16:67436665-67436665 |
liver | carcinoma | Substitution - Missense |
c.880G>C; p.A294P; 16:67436665-67436665 |
liver | carcinoma | Substitution - Missense |
c.934C>T; p.R312C; 16:67436719-67436719 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.656G>A; p.S219N; 16:67436134-67436134 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.708A>C; p.K236N; 16:67436292-67436292 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.518T>C; p.V173A; 16:67435996-67435996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.704C>T; p.S235F; 16:67436288-67436288 |
breast | carcinoma | Substitution - Missense |
c.1076G>A; p.R359Q; 16:67436861-67436861 |
liver | carcinoma | Substitution - Missense |
c.1076G>A; p.R359Q; 16:67436861-67436861 |
liver | carcinoma | Substitution - Missense |
c.971C>A; p.A324D; 16:67436756-67436756 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.587C>T; p.A196V; 16:67436065-67436065 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.759G>A; p.W253*; 16:67436343-67436343 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1116G>A; p.L372L; 16:67436901-67436901 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.468C>A; p.T156T; 16:67435830-67435830 |
thyroid | other; neoplasm | Substitution - coding silent |
c.586G>A; p.A196T; 16:67436064-67436064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.781C>A; p.Q261K; 16:67436365-67436365 |
skin | malignant_melanoma | Substitution - Missense |
c.829G>A; p.E277K; 16:67436614-67436614 |
skin | malignant_melanoma | Substitution - Missense |
c.921C>G; p.F307L; 16:67436706-67436706 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1074G>A; p.L358L; 16:67436859-67436859 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.713C>T; p.A238V; 16:67436297-67436297 |
liver | carcinoma | Substitution - Missense |
c.1125A>G; p.A375A; 16:67436910-67436910 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.713C>T; p.A238V; 16:67436297-67436297 |
liver | carcinoma | Substitution - Missense |
c.1059C>T; p.Y353Y; 16:67436844-67436844 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.912T>C; p.H304H; 16:67436697-67436697 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.440G>A; p.R147H; 16:67435802-67435802 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020C>A; p.P340P; 16:67436805-67436805 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.945G>A; p.M315I; 16:67436730-67436730 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.665-4G>T; p.?; 16:67436245-67436245 |
pancreas | carcinoma | Unknown |
c.354C>T; p.S118S; 16:67435716-67435716 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1079G>A; p.R360H; 16:67436864-67436864 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1079G>A; p.R360H; 16:67436864-67436864 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1064C>T; p.P355L; 16:67436849-67436849 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.585C>T; p.G195G; 16:67436063-67436063 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1161G>T; p.Q387H; 16:67436946-67436946 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.616C>T; p.L206L; 16:67436094-67436094 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |