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 | 59 | 57 | 0 |
| Samples | 59 | 57 | 0 |
| Peptides | 15 | 13 | 0 |
Function
NHERF2 · NHERF family PDZ scaffold protein 2
This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000424542 | Q15599 | 59 | 15 |
Gene Properties
Recurrent Mutations
All 15 amino-acid changes on canonical ENST00000424542 · 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 NHERF2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NHERF2 – 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 | 3/40 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Adrenocortical Carcinoma | 1/3 33% | 0/112 0% |
| Plasma Cell Myeloma | 3/44 7% | 0/305 0% |
| Non-Cancerous | 5/104 5% | 0/830 0% |
| Endometrial Carcinoma | 2/42 5% | 1/612 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Thyroid Gland Carcinoma | 5/45 11% | 0/1592 0% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 0/1390 0% |
| Ovarian Carcinoma | 3/109 3% | 0/998 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Bladder Carcinoma | 2/58 3% | 0/956 0% |
| Melanoma | 4/210 2% | 0/1899 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Kidney Carcinoma | 2/85 2% | 0/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 0/2534 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Pancreatic Carcinoma | 1/89 1% | 0/1611 0% |
| Breast Carcinoma | 2/144 1% | 0/3264 0% |
| Colorectal Carcinoma | 1/143 1% | 0/3239 0% |
Mutation Distribution
Where NHERF2 is mutated · all tissues, split by cell line vs tissue
How many mutations in NHERF2 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.
Mutations
All 59 mutations in NHERF2
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 |
|---|