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 | 2,448 | 221 | 2,194 |
| Samples | 416 | 64 | 346 |
| Peptides | 373 | 55 | 316 |
Function
CACNA2D2 · Calcium voltage-gated channel auxiliary subunit alpha2delta 2
Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014].
Isoforms & Proteins
6 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 ENST00000424201 · 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 CACNA2D2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CACNA2D2 – 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% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 21/612 3% |
| Melanoma | 4/210 2% | 66/1899 3% |
| Cervical Carcinoma | 2/35 6% | 9/422 2% |
| Colorectal Carcinoma | 14/143 10% | 53/3239 2% |
| Gastric Carcinoma | 0/74 0% | 31/1809 2% |
| Bladder Carcinoma | 3/58 5% | 12/956 1% |
| Osteosarcoma | 0/45 0% | 3/166 2% |
| Other Solid Cancers | 1/94 1% | 20/1515 1% |
| Hepatocellular Carcinoma | 0/46 0% | 22/2210 1% |
| Plasma Cell Myeloma | 0/44 0% | 3/305 1% |
| Ovarian Carcinoma | 3/109 3% | 5/998 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 8/1592 0% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Glioma | 0/52 0% | 11/2127 1% |
| Breast Carcinoma | 1/144 1% | 15/3264 0% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 2/1390 0% |
| Prostate Carcinoma | 2/13 15% | 8/2105 0% |
| Pancreatic Carcinoma | 2/89 2% | 6/1611 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Kidney Carcinoma | 0/85 0% | 7/1862 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 6/2550 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 7/2534 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
Mutation Distribution
Where CACNA2D2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CACNA2D2 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 2,448 mutations in CACNA2D2
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 |
|---|