MDGA2

MAM domain containing glycosylphosphatidylinositol anchor 2 Q7Z553-3 MDGA2_HUMAN
Protein Coding Chr 14 14q21.3 Swiss-Prot reviewed Entrez 161357
Mutations
2,017
CL 281 · Tissue 1,717
Samples
1,045
CL 189 · Tissue 846
Peptides
816
unique mutant peptides
Transcripts
2
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
Mutations2,0172811,717
Samples1,045189846
Peptides816136708

Function

MDGA2 · MAM domain containing glycosylphosphatidylinositol anchor 2

Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and spinal cord motor neuron differentiation. Predicted to act upstream of or within neuron migration and pattern specification process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

2 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
ENST00000399232 Q7Z553-3 1,203 783
ENST00000357362 Q7Z553-2 814 571

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q21.3
Entrez ID
Aliases
DEE122MAMDC1c14_5286

Recurrent Mutations

All 786 amino-acid changes on canonical ENST00000399232 · 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 MDGA2 · 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 MDGA2 – 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-Lymphoblastic Leukemia
5/40 12%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
3/26 12%
0/0 0%
Endometrial Carcinoma
12/42 29%
37/612 6%
Squamous Cell Lung Carcinoma
11/57 19%
53/810 7%
Non-Small Cell Lung Carcinoma
34/304 11%
68/1390 5%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
Other Solid Cancers
3/94 3%
76/1515 5%
Gastric Carcinoma
9/74 12%
69/1809 4%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Colorectal Carcinoma
22/143 15%
110/3239 3%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Neuroendocrine Tumour
16/154 10%
10/577 2%
Esophageal Squamous Cell Carcinoma
9/51 18%
70/2550 3%
Hodgkins Lymphoma
4/16 25%
0/122 0%
Cervical Carcinoma
0/35 0%
13/422 3%
Esophageal Carcinoma
2/23 9%
18/769 2%
Small Cell Lung Carcinoma
0/9 0%
19/752 3%
Melanoma
2/210 1%
49/1899 3%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Head and Neck Carcinoma
1/85 1%
33/1574 2%
Glioblastoma
2/98 2%
0/0 0%
Bladder Carcinoma
4/58 7%
15/956 2%
Germ Cell Tumour
3/25 12%
0/169 0%
Ovarian Carcinoma
7/109 6%
10/998 1%
Ewings Sarcoma
3/63 5%
2/262 1%
Pheochromocytoma and Paraganglioma
0/0 0%
1/71 1%
Pancreatic Carcinoma
3/89 3%
21/1611 1%
B-Cell Non-Hodgkins Lymphoma
4/88 5%
31/2534 1%
Hepatocellular Carcinoma
2/46 4%
27/2210 1%
Non-Cancerous
0/104 0%
11/830 1%

Mutation Distribution

Where MDGA2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MDGA2 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 42 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 2,017 mutations in MDGA2

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