MTHFD2L

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like Q9H903 MTD2L_HUMAN
Protein Coding Chr 4 4q13.3 Swiss-Prot reviewed Entrez 441024
Mutations
178
CL 45 · Tissue 127
Samples
155
CL 42 · Tissue 109
Peptides
134
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
Mutations17845127
Samples15542109
Peptides13428105

Function

MTHFD2L · Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like

Predicted to enable methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [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
ENST00000395759 Q9H903 125 106
ENST00000325278 Q9H903 52 40
ENST00000429335 Q8IY64* 1 1

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q13.3
Entrez ID

Recurrent Mutations

All 107 amino-acid changes on canonical ENST00000395759 · 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 MTHFD2L · 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 MTHFD2L – 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%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
4/42 10%
8/612 1%
Melanoma
4/210 2%
23/1899 1%
Ewings Sarcoma
0/63 0%
4/262 2%
Germ Cell Tumour
0/25 0%
2/169 1%
Glioblastoma
1/98 1%
0/0 0%
Bladder Carcinoma
2/58 3%
7/956 1%
Neuroendocrine Tumour
5/154 3%
1/577 0%
Squamous Cell Lung Carcinoma
5/57 9%
2/810 0%
Colorectal Carcinoma
6/143 4%
17/3239 1%
Esophageal Carcinoma
0/23 0%
3/769 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
Other Solid Cancers
1/94 1%
5/1515 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Other Sarcomas
0/69 0%
2/699 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Head and Neck Carcinoma
2/85 2%
1/1574 0%
Non-Small Cell Lung Carcinoma
0/304 0%
3/1390 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%
Breast Carcinoma
1/144 1%
4/3264 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
4/2550 0%
Small Cell Lung Carcinoma
1/9 11%
0/752 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%
Non-Cancerous
0/104 0%
1/830 0%
Kidney Carcinoma
2/85 2%
0/1862 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Glioma
0/52 0%
2/2127 0%
Ovarian Carcinoma
0/109 0%
1/998 0%

Mutation Distribution

Where MTHFD2L is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MTHFD2L 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 178 mutations in MTHFD2L

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