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 | 2,626 | 257 | 2,327 |
| Samples | 602 | 94 | 498 |
| Peptides | 426 | 69 | 386 |
Function
ADD2 · Adducin 2
Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010].
Isoforms & Proteins
5 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 359 amino-acid changes on canonical ENST00000264436 · 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 ADD2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ADD2 – 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 | 4/40 10% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Melanoma | 14/210 7% | 109/1899 6% |
| Endometrial Carcinoma | 5/42 12% | 22/612 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Colorectal Carcinoma | 12/143 8% | 78/3239 2% |
| Other Solid Cancers | 0/94 0% | 39/1515 3% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Bladder Carcinoma | 0/58 0% | 22/956 2% |
| Gastric Carcinoma | 2/74 3% | 38/1809 2% |
| Neuroendocrine Tumour | 7/154 5% | 7/577 1% |
| Esophageal Carcinoma | 0/23 0% | 12/769 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 17/1390 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 11/810 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Medulloblastoma | 0/0 0% | 5/450 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Ovarian Carcinoma | 0/109 0% | 11/998 1% |
| Hepatocellular Carcinoma | 4/46 9% | 17/2210 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Glioma | 0/52 0% | 19/2127 1% |
| Meningioma | 0/3 0% | 2/252 1% |
| Head and Neck Carcinoma | 2/85 2% | 10/1574 1% |
| Pancreatic Carcinoma | 1/89 1% | 10/1611 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
Mutation Distribution
Where ADD2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ADD2 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 2,626 mutations in ADD2
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 |
|---|