TRPM6

Transient receptor potential cation channel subfamily M member 6 Q9BX84 TRPM6_HUMAN
Protein Coding Chr 9 9q21.13 Swiss-Prot reviewed Entrez 140803
Mutations
4,560
CL 484 · Tissue 4,036
Samples
1,301
CL 207 · Tissue 1,080
Peptides
1,042
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
Mutations4,5604844,036
Samples1,3012071,080
Peptides1,042147910

Function

TRPM6 · Transient receptor potential cation channel subfamily M member 6

This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010].

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
ENST00000360774 Q9BX84 1,542 1,012
ENST00000361255 Q9BX84-3 1,420 972
ENST00000449912 Q9BX84-2 1,408 969
ENST00000359047 F6WXR0* 190 141

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q21.13
Entrez ID
Aliases
CHAK2HMGXHOMGHOMG1HSH

Recurrent Mutations

All 1012 amino-acid changes on canonical ENST00000360774 · 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 TRPM6 · 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 TRPM6 – 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
3/25 12%
0/0 0%
T-Lymphoblastic Leukemia
4/40 10%
0/0 0%
Melanoma
18/210 9%
192/1899 10%
Endometrial Carcinoma
10/42 24%
51/612 8%
Oral Cavity Carcinoma
5/54 9%
0/0 0%
Other Solid Cancers
6/94 6%
89/1515 6%
Non-Small Cell Lung Carcinoma
38/304 12%
59/1390 4%
Acute Myeloid Leukemia
5/90 6%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
7/133 5%
Hodgkins Lymphoma
4/16 25%
2/122 2%
Squamous Cell Lung Carcinoma
3/57 5%
33/810 4%
Bladder Carcinoma
1/58 2%
41/956 4%
Colorectal Carcinoma
25/143 17%
111/3239 3%
Esophageal Squamous Cell Carcinoma
3/51 6%
87/2550 3%
Gastric Carcinoma
6/74 8%
56/1809 3%
Glioblastoma
3/98 3%
0/0 0%
Small Cell Lung Carcinoma
0/9 0%
22/752 3%
Cervical Carcinoma
1/35 3%
12/422 3%
Unknown
0/10 0%
1/29 3%
Hepatocellular Carcinoma
2/46 4%
52/2210 2%
Neuroendocrine Tumour
10/154 6%
7/577 1%
Plasma Cell Myeloma
4/44 9%
4/305 1%
Other Sarcomas
2/69 3%
15/699 2%
Rhabdomyosarcoma
2/33 6%
2/171 1%
Ovarian Carcinoma
8/109 7%
12/998 1%
Esophageal Carcinoma
1/23 4%
13/769 2%
Head and Neck Carcinoma
4/85 5%
23/1574 1%
Biliary Tract Carcinoma
1/54 2%
15/950 2%
Ewings Sarcoma
2/63 3%
3/262 1%
Non-Cancerous
2/104 2%
12/830 1%

Mutation Distribution

Where TRPM6 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TRPM6 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 4,560 mutations in TRPM6

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