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 | 1,299 | 284 | 998 |
| Samples | 1,048 | 213 | 821 |
| Peptides | 939 | 165 | 791 |
Function
ITPR2 · Inositol 1,4,5-trisphosphate receptor type 2
The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015].
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 935 amino-acid changes on canonical ENST00000381340 · 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 ITPR2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ITPR2 – 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 | 6/40 15% | 0/0 0% |
| Endometrial Carcinoma | 17/42 40% | 49/612 8% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 62/1390 4% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 35/810 4% |
| Melanoma | 14/210 7% | 75/1899 4% |
| Germ Cell Tumour | 5/25 20% | 3/169 2% |
| Colorectal Carcinoma | 30/143 21% | 103/3239 3% |
| Bladder Carcinoma | 3/58 5% | 33/956 3% |
| Other Solid Cancers | 0/94 0% | 53/1515 4% |
| Gastric Carcinoma | 8/74 11% | 54/1809 3% |
| Cervical Carcinoma | 2/35 6% | 12/422 3% |
| Neuroendocrine Tumour | 13/154 8% | 6/577 1% |
| Head and Neck Carcinoma | 6/85 7% | 32/1574 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Ovarian Carcinoma | 12/109 11% | 13/998 1% |
| Small Cell Lung Carcinoma | 1/9 11% | 16/752 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Hepatocellular Carcinoma | 7/46 15% | 40/2210 2% |
| Esophageal Carcinoma | 0/23 0% | 16/769 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Plasma Cell Myeloma | 1/44 2% | 5/305 2% |
| Thyroid Gland Carcinoma | 3/45 7% | 22/1592 1% |
| Biliary Tract Carcinoma | 0/54 0% | 15/950 2% |
| Other Sarcomas | 1/69 1% | 10/699 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 33/2550 1% |
| Pancreatic Carcinoma | 5/89 6% | 15/1611 1% |
Mutation Distribution
Where ITPR2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ITPR2 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 1,299 mutations in ITPR2
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 |
|---|