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 | 275 | 46 | 228 |
| Samples | 138 | 28 | 109 |
| Peptides | 90 | 19 | 76 |
Function
GJB2 · Gap junction protein beta 2
This gene encodes a member of the gap junction protein family (gap junction beta 2) but is more commonly known as connexin 26. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. Connexins form hexameric channels in the plasma membrane which regulate passage of ions and small molecules between the cell and its environment or, when joined with another cell, form a dodecameric intercellular gap junction channel. The connexin proteins are grouped into alpha, beta, and gamma subfamilies. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Mar 2026].
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 90 amino-acid changes on canonical ENST00000382848 · 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 GJB2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GJB2 – 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 | 1/40 2% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Melanoma | 6/210 3% | 26/1899 1% |
| Endometrial Carcinoma | 0/42 0% | 8/612 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Adrenocortical Carcinoma | 1/3 33% | 0/112 0% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 7/1390 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Colorectal Carcinoma | 4/143 3% | 11/3239 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Breast Carcinoma | 1/144 1% | 6/3264 0% |
| Other Solid Cancers | 1/94 1% | 2/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Neuroblastoma | 1/87 1% | 1/1331 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Kidney Carcinoma | 2/85 2% | 0/1862 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 0/2550 0% |
Mutation Distribution
Where GJB2 is mutated · all tissues, split by cell line vs tissue
How many mutations in GJB2 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 275 mutations in GJB2
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 |
|---|