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 | 581 | 110 | 463 |
| Samples | 220 | 68 | 149 |
| Peptides | 152 | 34 | 120 |
Function
AZIN2 · Antizyme inhibitor 2
The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014].
Isoforms & Proteins
3 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.
Gene Properties
Recurrent Mutations
All 144 amino-acid changes on canonical ENST00000294517 · 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 AZIN2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AZIN2 – 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-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Endometrial Carcinoma | 2/42 5% | 8/612 1% |
| Melanoma | 8/210 4% | 18/1899 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Thyroid Gland Carcinoma | 4/45 9% | 12/1592 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Gastric Carcinoma | 2/74 3% | 14/1809 1% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 2/1390 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Colorectal Carcinoma | 7/143 5% | 18/3239 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Other Solid Cancers | 4/94 4% | 6/1515 0% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Ovarian Carcinoma | 0/109 0% | 6/998 1% |
| Hepatocellular Carcinoma | 2/46 4% | 10/2210 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Neuroblastoma | 6/87 7% | 0/1331 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Breast Carcinoma | 2/144 1% | 9/3264 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 4/2534 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
Mutation Distribution
Where AZIN2 is mutated · all tissues, split by cell line vs tissue
How many mutations in AZIN2 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 581 mutations in AZIN2
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 |
|---|