TRPM3

Chr 9q21.12-q21.13

transient receptor potential cation channel subfamily M member 3

Aliases:: KIAA1616, LTRPC3, GON-2
MANE:: ENST00000677713.2

OMIM: 608961 ↗NCBI: 80036 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TRPM3 · Q9HCF6

v62025-08-01

Predicted Aligned Error matrix for TRPM3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.3/ 100

Low

1,732 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)41%
Low(50–70)7%
Very low(< 50)37%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
0.63
cataract 50 with or without glaucoma
0.52
autosomal dominant non-syndromic intellectual disability
0.45
restless legs syndrome
0.42
hereditary disease
0.42
Abnormality of the skeletal system
0.39
Intellectual disability
0.38
syndromic complex neurodevelopmental disorder
0.37
Global developmental delay
0.36
Seizure
0.36

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 3

Constitutively active, non-selective divalent cation-conducting channel that is permeable to Ca(2+), Mn(2+), and Mg(2+), with a high permeability for Ca(2+). However, can be enhanced by increasing temperature and by ligands, including the endogenous neurosteroid pregnenolone sulfate and sphingosine-1 and suppressed by intracellular Mg(2+) (PubMed:12672799, PubMed:12672827, PubMed:32343227). Implicated in a variety of cellular processes, including insulin/peptide secretion, vascular constriction and dilation, noxious heat sensing, inflammatory and spontaneous pain sensitivity. In neurons of the dorsal root ganglia, functions as thermosensitive channel for the detection of noxious heat and spontaneous pain. Suggested to function as an ionotropic steroid receptor in beta-cell, indeed pregnenolone sulfate leads to Ca(2+) influx and enhanced insulin secretion. Mediates Zn(2+) uptake into the lumen of pancreatic beta cell secretory granules, thereby regulating insulin secretion (By similarity). Forms heteromultimeric ion channels with TRPM1 which are permeable for Ca(2+) and Zn(2+) ions (PubMed:21278253). Exists as multiple splice variants which differ significantly in their biophysical properties (By similarity)