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 | 170 | 42 | 126 |
| Samples | 89 | 27 | 61 |
| Peptides | 59 | 14 | 47 |
Function
EMP2 · Epithelial membrane protein 2
This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015].
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.
Gene Properties
Recurrent Mutations
All 59 amino-acid changes on canonical ENST00000359543 · 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 EMP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in EMP2 – 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 | 2/40 5% | 0/0 0% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Endometrial Carcinoma | 2/42 5% | 6/612 1% |
| Neuroendocrine Tumour | 5/154 3% | 0/577 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Melanoma | 4/210 2% | 5/1899 0% |
| Bladder Carcinoma | 2/58 3% | 2/956 0% |
| Colorectal Carcinoma | 3/143 2% | 8/3239 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 1/1390 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Pancreatic Carcinoma | 1/89 1% | 1/1611 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 3/2640 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Kidney Carcinoma | 1/85 1% | 1/1862 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
Mutation Distribution
Where EMP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in EMP2 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 170 mutations in EMP2
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 |
|---|