MIEF2

Mitochondrial elongation factor 2 Q96C03 MID49_HUMAN
Protein Coding Chr 17 17p11.2 Swiss-Prot reviewed Entrez 125170
Mutations
676
CL 115 · Tissue 556
Samples
250
CL 61 · Tissue 185
Peptides
238
unique mutant peptides
Transcripts
7
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
Mutations676115556
Samples25061185
Peptides23852190

Function

MIEF2 · Mitochondrial elongation factor 2

This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011].

Isoforms & Proteins

7 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
ENST00000323019 Q96C03 234 170
ENST00000395706 Q96C03-3 197 154
ENST00000395704 Q96C03-2 95 69
ENST00000395703 A8MT25* 52 43
ENST00000578621 J3QR30* 49 40
ENST00000578174 J3KTJ4* 48 39
ENST00000640122 Q96C03 1 1

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17p11.2
Entrez ID
Aliases
COXPD49D3BMID49SMCR7

Recurrent Mutations

All 170 amino-acid changes on canonical ENST00000323019 · 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 MIEF2 · 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 MIEF2 – 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
3/40 8%
0/0 0%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
2/42 5%
8/612 1%
Colorectal Carcinoma
8/143 6%
36/3239 1%
Melanoma
9/210 4%
18/1899 1%
Gastric Carcinoma
2/74 3%
19/1809 1%
Non-Small Cell Lung Carcinoma
7/304 2%
9/1390 1%
Mesothelioma
2/62 3%
0/165 0%
Other Solid Cancers
1/94 1%
13/1515 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Ovarian Carcinoma
6/109 6%
2/998 0%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Squamous Cell Lung Carcinoma
3/57 5%
3/810 0%
Ewings Sarcoma
2/63 3%
0/262 0%
Glioma
0/52 0%
12/2127 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Osteosarcoma
1/45 2%
0/166 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Other Sarcomas
0/69 0%
3/699 0%
Prostate Carcinoma
0/13 0%
8/2105 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
5/2550 0%
Pancreatic Carcinoma
1/89 1%
3/1611 0%
Head and Neck Carcinoma
3/85 4%
1/1574 0%
Non-Cancerous
0/104 0%
2/830 0%
Wilms Tumour
0/5 0%
1/474 0%

Mutation Distribution

Where MIEF2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MIEF2 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 676 mutations in MIEF2

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