TM2D2

TM2 domain containing 2 Q9BX73 TM2D2_HUMAN
Protein Coding Chr 8 8p11.22 Swiss-Prot reviewed Entrez 83877
Mutations
180
CL 26 · Tissue 142
Samples
84
CL 17 · Tissue 63
Peptides
68
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
Mutations18026142
Samples841763
Peptides681254

Function

TM2D2 · TM2 domain containing 2

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008].

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
ENST00000456397 Q9BX73 72 55
ENST00000397070 Q9BX73-2 54 45
ENST00000456845 Q9BX73-2 54 45

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8p11.22
Entrez ID
Aliases
BLP1

Recurrent Mutations

All 55 amino-acid changes on canonical ENST00000456397 · 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 TM2D2 · 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 TM2D2 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Endometrial Carcinoma
3/42 7%
4/612 1%
Colorectal Carcinoma
3/143 2%
15/3239 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Bladder Carcinoma
1/58 2%
2/956 0%
Non-Small Cell Lung Carcinoma
3/304 1%
2/1390 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Gastric Carcinoma
0/74 0%
5/1809 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Melanoma
1/210 0%
3/1899 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Glioma
0/52 0%
2/2127 0%
Neuroblastoma
1/87 1%
0/1331 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%
Other Blood Cancers
1/61 2%
0/2725 0%
Breast Carcinoma
0/144 0%
1/3264 0%

Mutation Distribution

Where TM2D2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TM2D2 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 180 mutations in TM2D2

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