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 | 991 | 158 | 805 |
| Samples | 875 | 141 | 715 |
| Peptides | 674 | 99 | 572 |
Function
A2M · Alpha-2-macroglobulin
The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016].
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 |
|---|---|---|---|
| ENST00000318602 | P01023 | 991 | 674 |
Gene Properties
Recurrent Mutations
All 674 amino-acid changes on canonical ENST00000318602 · 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 A2M · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in A2M – 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% |
| Endometrial Carcinoma | 4/42 10% | 36/612 6% |
| Melanoma | 12/210 6% | 115/1899 6% |
| Non-Small Cell Lung Carcinoma | 31/304 10% | 47/1390 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Colorectal Carcinoma | 16/143 11% | 119/3239 4% |
| Gastric Carcinoma | 8/74 11% | 66/1809 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 27/810 3% |
| Other Solid Cancers | 0/94 0% | 51/1515 3% |
| Burkitts Lymphoma | 6/32 19% | 1/196 1% |
| Cervical Carcinoma | 0/35 0% | 12/422 3% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Bladder Carcinoma | 1/58 2% | 20/956 2% |
| Esophageal Carcinoma | 0/23 0% | 14/769 2% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Rhabdomyosarcoma | 3/33 9% | 0/171 0% |
| Other Sarcomas | 4/69 6% | 6/699 1% |
| Hepatocellular Carcinoma | 2/46 4% | 25/2210 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 9/752 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 26/2550 1% |
| Neuroblastoma | 5/87 6% | 10/1331 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Head and Neck Carcinoma | 1/85 1% | 16/1574 1% |
| Neuroendocrine Tumour | 2/154 1% | 5/577 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Plasma Cell Myeloma | 0/44 0% | 3/305 1% |
| Glioma | 2/52 4% | 16/2127 1% |
Mutation Distribution
Where A2M is mutated · all tissues, split by cell line vs tissue
How many mutations in A2M 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 991 mutations in A2M
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 |
|---|