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 | 835 | 106 | 714 |
| Samples | 419 | 74 | 337 |
| Peptides | 355 | 47 | 300 |
Function
ATP2A2 · ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019].
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 347 amino-acid changes on canonical ENST00000539276 · 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 ATP2A2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATP2A2 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 17/612 3% |
| Melanoma | 4/210 2% | 60/1899 3% |
| Other Solid Cancers | 1/94 1% | 34/1515 2% |
| Colorectal Carcinoma | 20/143 14% | 39/3239 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 11/810 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 17/1390 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Mesothelioma | 1/62 2% | 2/165 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Bladder Carcinoma | 2/58 3% | 10/956 1% |
| Gastric Carcinoma | 3/74 4% | 19/1809 1% |
| Neuroendocrine Tumour | 2/154 1% | 5/577 1% |
| Hepatocellular Carcinoma | 0/46 0% | 20/2210 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Pancreatic Carcinoma | 3/89 3% | 8/1611 0% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 14/2550 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Head and Neck Carcinoma | 2/85 2% | 7/1574 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Kidney Carcinoma | 1/85 1% | 8/1862 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Breast Carcinoma | 2/144 1% | 12/3264 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Prostate Carcinoma | 2/13 15% | 5/2105 0% |
Mutation Distribution
Where ATP2A2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ATP2A2 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 835 mutations in ATP2A2
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 |
|---|