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 | 364 | 63 | 299 |
| Samples | 194 | 41 | 152 |
| Peptides | 147 | 26 | 127 |
Function
MS4A2 · Membrane spanning 4-domains A2
The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000278888 | Q01362 | 207 | 141 |
| ENST00000617306 | A0A0B4J2E9* | 157 | 116 |
Gene Properties
Recurrent Mutations
All 141 amino-acid changes on canonical ENST00000278888 · 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 MS4A2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MS4A2 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 4/210 2% | 37/1899 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 13/1390 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Endometrial Carcinoma | 0/42 0% | 5/612 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Cervical Carcinoma | 2/35 6% | 1/422 0% |
| Colorectal Carcinoma | 9/143 6% | 12/3239 0% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 10/2550 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Gastric Carcinoma | 2/74 3% | 3/1809 0% |
| Kidney Carcinoma | 2/85 2% | 2/1862 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 4/2640 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
Mutation Distribution
Where MS4A2 is mutated · all tissues, split by cell line vs tissue
How many mutations in MS4A2 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 40 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 364 mutations in MS4A2
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 |
|---|