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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TRPM3
transient receptor potential cation channel subfamily M member 3
Chromosome 9 Β· 9q21.12-q21.13
NCBI Gene: 80036Ensembl: ENSG00000083067.27HGNC: HGNC:17992UniProt: A0A7I2V4C9
78PubMed Papers
22Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium ion transmembrane transportplasma membranemonoatomic cation channel activitymonoatomic cation transportneurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizurescataract 50 with or without glaucomaautosomal dominant non-syndromic intellectual disabilityrestless legs syndrome
✦AI Summary

TRPM3 is a constitutively active, non-selective cation channel with high permeability for Ca2+, Mg2+, and Zn2+ that functions as a crucial cellular sensor in multiple physiological processes 1. The channel exhibits temperature sensitivity and can be activated by endogenous neurosteroids like pregnenolone sulfate while being inhibited by intracellular Mg2+ and G protein Ξ²Ξ³ subunits released upon GPCR activation 2. TRPM3 demonstrates remarkable structural diversity through extensive alternative splicing, generating multiple isoforms with distinct functional properties, including variants that affect ionic selectivity and channel functionality 34. The channel plays critical roles in nociception as a thermosensitive detector of noxious heat in dorsal root ganglion neurons, insulin secretion in pancreatic beta cells, and vascular smooth muscle function 3. Clinically, TRPM3 dysfunction is associated with myalgic encephalomyelitis/chr9 fatigue syndrome (ME/CFS), where reduced calcium flux in natural killer cells may contribute to ineffective pathogen clearance 5. The channel represents a promising therapeutic target for pain relief, with ongoing research into TRP channel modulators for various pain disorders 6. TRPM3's involvement in pain signaling, distinct from itch pathways, makes it particularly relevant for understanding somatosensory processing 7.

Sources cited
1
TRPM3 is highly permeable to divalent cations and functions as a cellular sensor in physiological processes
PMID: 37853091
2
TRPM3 is inhibited by G protein Ξ²Ξ³ subunits with an IC50 of ~240 nM
PMID: 36283409
3
TRPM3 shows extensive alternative splicing generating multiple isoforms and functions in nociception, insulin release, and vascular function
PMID: 24756716
4
Alternative splicing affects pore-forming region and changes divalent cation selectivity
PMID: 17217062
5
TRPM3 dysfunction in NK cells is observed in ME/CFS with reduced calcium flux
PMID: 38970055
6
TRPM3 represents a promising therapeutic target for pain relief
PMID: 38471384
7
TRPM3 has a role in pain signaling but no known role in itch pathways
PMID: 38103700
Disease Associationsβ“˜22
neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizuresOpen Targets
0.63Moderate
cataract 50 with or without glaucomaOpen Targets
0.52Moderate
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.45Moderate
restless legs syndromeOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.42Moderate
Intellectual disabilityOpen Targets
0.38Weak
developmental disorder of mental healthOpen Targets
0.37Weak
syndromic complex neurodevelopmental disorderOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.36Weak
SeizureOpen Targets
0.36Weak
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeOpen Targets
0.35Weak
Birk-Barel syndromeOpen Targets
0.34Weak
mulibrey nanismOpen Targets
0.33Weak
lagophthalmosOpen Targets
0.31Weak
digestive system neoplasmOpen Targets
0.31Weak
smoking initiationOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.30Weak
nutritional deficiency diseaseOpen Targets
0.30Weak
osteomyelitisOpen Targets
0.30Weak
Cataract 50 with or without glaucomaUniProt
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizuresUniProt
Pathogenic Variants7
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)Pathogenic
not provided|Global developmental delay;Seizure|Intellectual disability|Mulibrey nanism syndrome|TRPM3-related disorder|Autosomal dominant non-syndromic intellectual disability|Birk-Barel syndrome|Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 1002
NM_001366145.2(TRPM3):c.3376A>G (p.Asn1126Asp)Pathogenic
not provided|Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
β˜…β˜…β˜†β˜†2025β†’ Residue 1126
NM_001366145.2(TRPM3):c.3397T>C (p.Ser1133Pro)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†β†’ Residue 1133
NM_001366145.2(TRPM3):c.1840-25_1852delLikely pathogenic
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
β˜…β˜†β˜†β˜†2025
NM_001366145.2(TRPM3):c.3431A>G (p.Tyr1144Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1144
NM_001366145.2(TRPM3):c.4913A>G (p.Asn1638Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 1638
NM_001366145.2(TRPM3):c.3428G>A (p.Arg1143Lys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 1143
View on ClinVar β†—
Related Genes
GNB1Protein interaction100%NUDT9Protein interaction84%TRPV1Protein interaction81%TRPA1Protein interaction81%TRPV2Protein interaction81%PKD2Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Ovary
38%
Heart
11%
Liver
4%
Lung
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TRPM3GNB1NUDT9TRPV1TRPA1TRPV2PKD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6NW43
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.90Intermediate
Observed/Expected LoF0.39 [0.32–0.48]
RankingsWhere TRPM3 stands among ~20K protein-coding genes
  • #6,118of 20,598
    Most Researched78
  • #3,194of 5,498
    Most Pathogenic Variants7
  • #2,805of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedTRPM3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
TRPM channels in health and disease.
PMID: 37853091
Nat Rev Nephrol Β· 2024
1.00
2
TRPM3.
PMID: 24756716
Handb Exp Pharmacol Β· 2014
0.90
3
Structural and functional analyses of a GPCR-inhibited ion channel TRPM3.
PMID: 36283409
Neuron Β· 2023
0.80
4
TRPM3.
PMID: 17217062
Handb Exp Pharmacol Β· 2007
0.70
5
Similarities and differences in peripheral itch and pain pathways in atopic dermatitis.
PMID: 38103700
J Allergy Clin Immunol Β· 2024
0.60