MCMDC2

Minichromosome maintenance domain containing 2 Q4G0Z9 MCMD2_HUMAN
Protein Coding Chr 8 8q13.1 Swiss-Prot reviewed Entrez 157777
Mutations
1,176
CL 163 · Tissue 1,007
Samples
351
CL 69 · Tissue 279
Peptides
279
unique mutant peptides
Transcripts
4
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
Mutations1,1761631,007
Samples35169279
Peptides27948233

Function

MCMDC2 · Minichromosome maintenance domain containing 2

Predicted to enable ATP binding activity and DNA binding activity. Predicted to be involved in double-strand break repair via break-induced replication. Predicted to act upstream of or within gamete generation and meiosis I cell cycle process. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

4 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
ENST00000422365 Q4G0Z9 372 266
ENST00000313616 B4DXX4* 318 237
ENST00000396592 Q4G0Z9-2 302 225
ENST00000492775 G3XAN3* 184 134

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8q13.1
Entrez ID
Aliases
C8orf45

Recurrent Mutations

All 266 amino-acid changes on canonical ENST00000422365 · 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 MCMDC2 · 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 MCMDC2 – 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
2/26 8%
0/0 0%
Chordoma
0/7 0%
1/13 8%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
1/42 2%
19/612 3%
Melanoma
5/210 2%
35/1899 2%
Non-Small Cell Lung Carcinoma
9/304 3%
20/1390 1%
Other Solid Cancers
4/94 4%
23/1515 2%
Germ Cell Tumour
2/25 8%
1/169 1%
Colorectal Carcinoma
15/143 10%
31/3239 1%
Bladder Carcinoma
1/58 2%
10/956 1%
Gastric Carcinoma
0/74 0%
20/1809 1%
Squamous Cell Lung Carcinoma
0/57 0%
9/810 1%
Glioblastoma
1/98 1%
0/0 0%
Neuroendocrine Tumour
5/154 3%
2/577 0%
Burkitts Lymphoma
2/32 6%
0/196 0%
Kidney Carcinoma
1/85 1%
14/1862 1%
Esophageal Carcinoma
2/23 9%
4/769 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Prostate Carcinoma
2/13 15%
12/2105 1%
Head and Neck Carcinoma
2/85 2%
7/1574 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Hepatocellular Carcinoma
0/46 0%
11/2210 0%
Pancreatic Carcinoma
2/89 2%
6/1611 0%
Ovarian Carcinoma
2/109 2%
3/998 0%
Biliary Tract Carcinoma
1/54 2%
3/950 0%
Other Sarcomas
0/69 0%
3/699 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
9/2550 0%

Mutation Distribution

Where MCMDC2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MCMDC2 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 1,176 mutations in MCMDC2

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