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 | 1,297 | 116 | 1,170 |
| Samples | 267 | 39 | 225 |
| Peptides | 219 | 26 | 196 |
Function
SMAD2 · SMAD family member 2
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012].
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 194 amino-acid changes on canonical ENST00000262160 · 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 SMAD2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SMAD2 – 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 | 3/42 7% | 19/612 3% |
| Colorectal Carcinoma | 16/143 11% | 81/3239 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Melanoma | 1/210 0% | 20/1899 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Gastric Carcinoma | 2/74 3% | 14/1809 1% |
| Other Solid Cancers | 0/94 0% | 12/1515 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 11/1390 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Kidney Carcinoma | 2/85 2% | 8/1862 0% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Breast Carcinoma | 2/144 1% | 11/3264 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Ovarian Carcinoma | 2/109 2% | 0/998 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
Mutation Distribution
Where SMAD2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SMAD2 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 1,297 mutations in SMAD2
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 |
|---|