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 | 575 | 77 | 494 |
| Samples | 212 | 39 | 171 |
| Peptides | 162 | 31 | 136 |
Function
AVPR2 · Arginine vasopressin receptor 2
This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
3 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 154 amino-acid changes on canonical ENST00000646375 · 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 AVPR2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AVPR2 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Hodgkins Lymphoma | 4/16 25% | 0/122 0% |
| Adrenocortical Carcinoma | 2/3 67% | 1/112 1% |
| Endometrial Carcinoma | 2/42 5% | 12/612 2% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 9/810 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Other Solid Cancers | 2/94 2% | 14/1515 1% |
| Colorectal Carcinoma | 3/143 2% | 29/3239 1% |
| Gastric Carcinoma | 0/74 0% | 17/1809 1% |
| Melanoma | 4/210 2% | 12/1899 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 9/1390 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Hepatocellular Carcinoma | 2/46 4% | 7/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 1/752 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 3/1592 0% |
| Breast Carcinoma | 2/144 1% | 5/3264 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
Mutation Distribution
Where AVPR2 is mutated · all tissues, split by cell line vs tissue
How many mutations in AVPR2 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 575 mutations in AVPR2
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 |
|---|