TRPM4

Chr 19q13.33

transient receptor potential cation channel subfamily M member 4

Aliases:: FLJ20041
MANE:: ENST00000252826.10

OMIM: 606936 ↗NCBI: 54795 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TRPM4 · Q8TD43

v62025-08-01

Predicted Aligned Error matrix for TRPM4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.4/ 100

Confident

1,214 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)51%
Low(50–70)10%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Familial progressive cardiac conduction defect
0.78
erythrokeratodermia variabilis
0.64
Abnormality of the cardiovascular system
0.34
Brugada syndrome
0.19
Prolonged QT interval
0.18
hypertrophic cardiomyopathy
0.16
cardiomyopathy
0.15
progressive familial heart block, type 1A
0.15
sudden cardiac arrest
0.15
hereditary disease
0.15

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transient receptor potential cation channel subfamily M member 4

Calcium-activated selective cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:12842017, PubMed:29211723, PubMed:30528822). While it is activated by increase in intracellular Ca(2+), it is impermeable to it (PubMed:12015988). Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane (PubMed:12015988). It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway. Plays a role in keratinocyte differentiation (PubMed:30528822)