CHMP2B

Charged multivesicular body protein 2B Q9UQN3 CHM2B_HUMAN
Protein Coding Chr 3 3p11.2 Swiss-Prot reviewed Entrez 25978
Mutations
222
CL 28 · Tissue 193
Samples
89
CL 18 · Tissue 70
Peptides
80
unique mutant peptides
Transcripts
3
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations22228193
Samples891870
Peptides801468

Function

CHMP2B · Charged multivesicular body protein 2B

This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

3 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000263780 Q9UQN3 91 70
ENST00000494980 C9J0A7* 67 53
ENST00000471660 Q9UQN3-2 64 52

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p11.2
Entrez ID
Aliases
ALS17CHMP2.5DMT1FTDALS7VPS2-2VPS2B

Recurrent Mutations

All 70 amino-acid changes on canonical ENST00000263780 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 CHMP2B · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHMP2B – 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 typeCell linesTissue samples
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Squamous Cell Lung Carcinoma
5/57 9%
2/810 0%
Endometrial Carcinoma
0/42 0%
5/612 1%
Non-Small Cell Lung Carcinoma
4/304 1%
5/1390 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
10/2550 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Melanoma
0/210 0%
5/1899 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Non-Cancerous
0/104 0%
2/830 0%
Colorectal Carcinoma
1/143 1%
6/3239 0%
Bladder Carcinoma
1/58 2%
1/956 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Solid Cancers
0/94 0%
2/1515 0%
Gastric Carcinoma
0/74 0%
2/1809 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Breast Carcinoma
1/144 1%
1/3264 0%
Hepatocellular Carcinoma
0/46 0%
1/2210 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

Where CHMP2B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CHMP2B 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 222 mutations in CHMP2B

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide