Gene
TRPM4
transient receptor potential cation channel subfamily M member 4
- HGNC 17993↗(opens in a new tab)
- Ensembl gene ENSG00000130529↗(opens in a new tab)
- NCBI Gene 54795↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.33
- Coordinates
- Chromosome 19: 49,157,792–49,211,836 (GRCh38)
- Exons
- 25 exons across 54 kb
- Protein
- 1,214 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- FLJ20041
- MANE Select transcript
- ENST00000252826.10NM_017636.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Progressive Cardiac Conduction Disease & Sick Sinus Syndrome
- Progressive Familial Heart BlockAutosomal dominant
An inherited conduction disorder, caused by changes in genes such as SCN5A and TRPM4, that can progress to complete heart block, causing dizziness, fainting or, rarely, sudden death.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing about it supports regular ECG checks and timely pacemaker implantation.
Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita
- Hereditary palmoplantar keratoderma
Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How TRPM4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.1 kb of the gene's 54 kb; 3,645 of those bases code for the protein.
How a genome test reads TRPM4
3
positions in TRPM4 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 54 kb of TRPM4, introns included, not only the 4.1 kb of exons.
Genes linked to the same conditions
- AAGABalpha and gamma adaptin binding proteinShares 1 condition
- AP1B1adaptor related protein complex 1 subunit beta 1Shares 1 condition
- AQP5aquaporin 5Shares 1 condition
- CTSCcathepsin CShares 1 condition
- DSG1desmoglein 1Shares 1 condition
- DSPdesmoplakinShares 1 condition
- GJA1gap junction protein alpha 1Shares 1 condition
- GJB2gap junction protein beta 2Shares 1 condition
- GJB3gap junction protein beta 3Shares 1 condition
- GJB4gap junction protein beta 4Shares 1 condition
- GJB6gap junction protein beta 6Shares 1 condition
- GRHL2grainyhead like transcription factor 2Shares 1 condition
Traits linked to TRPM4
The Human Phenotype Ontology lists these as features of the rare conditions TRPM4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Redness of skin or mucous membrane
- Abnormal heart rate
- Bundle branch block
- Cardiac failure
- Complete right bundle branch block
- Fainting spell
- Heart block
- Heart stops beating
Show 14 more traits
- ST segment elevation
- Elevated heart rate
- First degree atrioventricular block
- Paroxysmal ventricular tachycardia
- Prolonged QT interval
- Sick sinus syndrome
- Supraventricular tachycardia
- Ventricular fibrillation
- Trifascicular block
- Ventricular arrhythmia
- Interruption of electrical communication between upper and lower chambers of heart
- Left anterior fascicular block
- Shortened PR interval
- Slow heartbeats
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TRPM4 gene: transient receptor potential cation channel subfamily M member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/trpm4
Dante Labs. TRPM4 gene: transient receptor potential cation channel subfamily M member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/trpm4
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