Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 153 | 28 | 117 |
| Samples | 147 | 27 | 115 |
| Peptides | 124 | 21 | 97 |
Function
HSD11B2 · Hydroxysteroid 11-beta dehydrogenase 2
There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010].
Isoforms & Proteins
1 transcript · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000326152 | P80365 | 153 | 124 |
Gene Properties
Recurrent Mutations
All 124 amino-acid changes on canonical ENST00000326152 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in HSD11B2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HSD11B2 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 5/40 12% | 0/0 0% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Endometrial Carcinoma | 1/42 2% | 7/612 1% |
| Melanoma | 4/210 2% | 14/1899 1% |
| Colorectal Carcinoma | 6/143 4% | 22/3239 1% |
| Other Solid Cancers | 0/94 0% | 9/1515 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Non-Cancerous | 1/104 1% | 3/830 0% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 2/810 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| Ovarian Carcinoma | 2/109 2% | 0/998 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 2/1390 0% |
| B-Lymphoblastic Leukemia | 4/55 7% | 0/2640 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
Mutation Distribution
Where HSD11B2 is mutated · all tissues, split by cell line vs tissue
How many mutations in HSD11B2 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 153 mutations in HSD11B2
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|