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 | 785 | 93 | 680 |
| Samples | 723 | 82 | 636 |
| Peptides | 395 | 53 | 348 |
Function
JAK2 · Janus kinase 2
This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000381652 | O60674 | 784 | 395 |
| ENST00000636127 | A0A1B0GTR9* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 395 amino-acid changes on canonical ENST00000381652 · 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 JAK2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in JAK2 – 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% |
| Acute Myeloid Leukemia | 9/90 10% | 0/0 0% |
| Other Blood Cancers | 0/61 0% | 188/2725 7% |
| Endometrial Carcinoma | 10/42 24% | 29/612 5% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 31/1390 2% |
| Cervical Carcinoma | 0/35 0% | 10/422 2% |
| Melanoma | 7/210 3% | 39/1899 2% |
| Hodgkins Lymphoma | 3/16 19% | 0/122 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 54/2640 2% |
| Colorectal Carcinoma | 13/143 9% | 52/3239 2% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 11/810 1% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Gastric Carcinoma | 0/74 0% | 25/1809 1% |
| Bladder Carcinoma | 0/58 0% | 13/956 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 9/752 1% |
| Non-Cancerous | 2/104 2% | 9/830 1% |
| Ovarian Carcinoma | 2/109 2% | 11/998 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 17/1592 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 24/2550 1% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Kidney Carcinoma | 2/85 2% | 14/1862 1% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Neuroendocrine Tumour | 1/154 1% | 4/577 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Breast Carcinoma | 0/144 0% | 19/3264 1% |
| Other Solid Cancers | 1/94 1% | 8/1515 1% |
Mutation Distribution
Where JAK2 is mutated · all tissues, split by cell line vs tissue
How many mutations in JAK2 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 785 mutations in JAK2
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 |
|---|