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 | 503 | 78 | 419 |
| Samples | 229 | 48 | 178 |
| Peptides | 198 | 36 | 165 |
Function
DIO2 · Iodothyronine deiodinase 2
The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is widely expressed, including in thyroid and brain. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the non-standard amino acid, selenocysteine (Sec), which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Unlike the other two members (DIO1 and DIO3) of this enzyme family, the mRNA for this gene contains an additional in-frame UGA codon that has been reported (in human) to function either as a Sec or a stop codon, which can result in two isoforms with one or two Sec residues; however, only the upstream Sec (conserved with the single Sec residue found at the active site in DIO1 and DIO3) was shown to be essential for enzyme activity (PMID:10403186). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2018].
Isoforms & Proteins
4 transcripts · 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 |
|---|---|---|---|
| ENST00000438257 | Q92813 | 226 | 161 |
| ENST00000557010 | Q92813 | 192 | 150 |
| ENST00000555750 | A0A024R6J8* | 53 | 37 |
| ENST00000557125 | G3V2A7* | 32 | 29 |
Gene Properties
Recurrent Mutations
All 161 amino-acid changes on canonical ENST00000438257 · 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 DIO2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DIO2 – 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 |
|---|---|---|
| Endometrial Carcinoma | 1/42 2% | 14/612 2% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 20/1390 1% |
| Melanoma | 3/210 1% | 32/1899 2% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 9/810 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Neuroendocrine Tumour | 6/154 4% | 0/577 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Colorectal Carcinoma | 4/143 3% | 20/3239 1% |
| Other Solid Cancers | 2/94 2% | 9/1515 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Gastric Carcinoma | 1/74 1% | 9/1809 0% |
| Breast Carcinoma | 6/144 4% | 9/3264 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 8/2534 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Prostate Carcinoma | 2/13 15% | 3/2105 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Other Blood Cancers | 1/61 2% | 3/2725 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 1/2640 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
Mutation Distribution
Where DIO2 is mutated · all tissues, split by cell line vs tissue
How many mutations in DIO2 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 503 mutations in DIO2
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 |
|---|