C2CD2L

C2CD2 like O14523 C2C2L_HUMAN
Protein Coding Chr 11 11q23.3 Swiss-Prot reviewed Entrez 9854
Mutations
363
CL 92 · Tissue 258
Samples
328
CL 80 · Tissue 238
Peptides
251
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
Mutations36392258
Samples32880238
Peptides25150204

Function

C2CD2L · C2CD2 like

Enables phosphatidylinositol binding activity and phosphatidylinositol transfer activity. Involved in positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in cortical endoplasmic reticulum and endoplasmic reticulum-plasma membrane contact site. Colocalizes with cytoplasmic side of apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000336702 O14523-2 288 224
ENST00000648610 O14523 66 42
ENST00000528586 E9PK05* 9 8

Gene Properties

Type
Protein Coding
Chromosome
11
Cytoband
11q23.3
Entrez ID
Aliases
DLNB23TMEM24

Recurrent Mutations

All 224 amino-acid changes on canonical ENST00000336702 · 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 C2CD2L · 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 C2CD2L – 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
T-Cell Non-Hodgkins Lymphoma
3/26 12%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Unknown
0/10 0%
1/29 3%
Endometrial Carcinoma
2/42 5%
12/612 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Cervical Carcinoma
2/35 6%
6/422 1%
Melanoma
3/210 1%
33/1899 2%
Ewings Sarcoma
4/63 6%
1/262 0%
Non-Small Cell Lung Carcinoma
10/304 3%
12/1390 1%
Bladder Carcinoma
6/58 10%
7/956 1%
Squamous Cell Lung Carcinoma
2/57 4%
9/810 1%
Gastric Carcinoma
4/74 5%
19/1809 1%
Colorectal Carcinoma
14/143 10%
27/3239 1%
Other Solid Cancers
0/94 0%
17/1515 1%
Thyroid Gland Carcinoma
0/45 0%
17/1592 1%
Plasma Cell Myeloma
1/44 2%
2/305 1%
Neuroendocrine Tumour
3/154 2%
3/577 1%
Other Sarcomas
3/69 4%
3/699 0%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Esophageal Squamous Cell Carcinoma
3/51 6%
13/2550 1%
Ovarian Carcinoma
3/109 3%
3/998 0%
Small Cell Lung Carcinoma
1/9 11%
3/752 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Biliary Tract Carcinoma
1/54 2%
4/950 0%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Burkitts Lymphoma
0/32 0%
1/196 1%
Pancreatic Carcinoma
0/89 0%
7/1611 0%
Meningioma
0/3 0%
1/252 0%
Hepatocellular Carcinoma
1/46 2%
7/2210 0%

Mutation Distribution

Where C2CD2L is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in C2CD2L 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 363 mutations in C2CD2L

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