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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TRPM1
transient receptor potential cation channel subfamily M member 1
Chromosome 15 · 15q13.3
NCBI Gene: 4308Ensembl: ENSG00000134160.17HGNC: HGNC:7146UniProt: Q7Z4N2
61PubMed Papers
21Diseases
0Drugs
114Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
monoatomic cation transmembrane transporter activitycalcium channel activitycalcium ion import across plasma membranemonoatomic cation transmembrane transportcongenital stationary night blindnessRetinal dystrophygenetic disorderalcohol drinking
✦AI Summary

TRPM1 is a constitutively open nonselective cation channel that mediates influx of divalent cations including Ca²⁺, Mg²⁺, Mn²⁺, Ba²⁺, and Ni²⁺, while remaining impermeable to zinc ions 1. The channel can form heteromultimeric complexes with TRPM3 that conduct both calcium and zinc 1. TRPM1 plays an essential role in retinal phototransduction, specifically in ON-bipolar cell depolarization 23. The channel operates within the mGluR6 signaling cascade: in darkness, glutamate release activates GRM6, leading to G-protein-mediated TRPM1 channel inactivation; light-induced glutamate decrease deactivates GRM6, allowing channel opening and membrane depolarization 4. Ultrastructurally, TRPM1 localizes to ON-bipolar cell dendrite tips invaginating photoreceptor terminals, and is expressed in select rod photoreceptors 5. Clinically, TRPM1 mutations cause congenital stationary night blindness (CSNB), characterized by early-onset night blindness due to rod dysfunction 4. Additionally, TRPM1 serves as a retinal autoantigen in paraneoplastic retinopathy and is implicated in melanoma pathogenesis and metastasis suppression 46. Recent genome-wide association studies identify TRPM1 as a putative causal gene for age-related macular degeneration 7.

Sources cited
1
TRPM1 conducts divalent cations (Ca²⁺, Mg²⁺, Mn²⁺, Ba²⁺, Ni²⁺), is impermeable to zinc, and forms heteromultimeric channels with TRPM3 permeable to calcium and zinc
PMID: 21278253
2
TRPM1 plays an essential role in depolarizing photoresponse of retinal ON-bipolar cells
PMID: 19878917
3
TRPM1 is essential for ON-bipolar cell photoresponse
PMID: 19896109
4
TRPM1 is required for photoresponse in mouse retinal ON-bipolar cells via mGluR6 cascade; mutations cause congenital stationary night blindness; serves as retinal autoantigen in paraneoplastic retinopathy
PMID: 24756714
5
TRPM1 localizes to ON-bipolar cell dendrite tips at synaptic terminals and is expressed in select rod photoreceptors
PMID: 21896854
6
TRPM1 identified as putative causal gene for age-related macular degeneration through eQTL and single-cell analysis
PMID: 31995762
7
TRPM1 identified as melanoma cell surface target for antibody-drug conjugate therapy
PMID: 37668527
8
TRPM1 is highly permeable to divalent cations and functions in photoreception
PMID: 37853091
Disease Associationsⓘ21
congenital stationary night blindnessOpen Targets
0.69Moderate
Retinal dystrophyOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.42Moderate
alcohol drinkingOpen Targets
0.34Weak
actinic keratosisOpen Targets
0.33Weak
sunburnOpen Targets
0.32Weak
neuroendocrine neoplasmOpen Targets
0.32Weak
pancreatic carcinomaOpen Targets
0.32Weak
macular degenerationOpen Targets
0.31Weak
HypocalcemiaOpen Targets
0.31Weak
nutritional deficiency diseaseOpen Targets
0.29Weak
night blindnessOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.27Weak
Abnormality of refractionOpen Targets
0.26Weak
congenital stationary night blindness, recessiveOpen Targets
0.17Weak
retinitis pigmentosaOpen Targets
0.16Weak
optic atrophyOpen Targets
0.15Weak
hereditary macular dystrophyOpen Targets
0.15Weak
ependymomaOpen Targets
0.11Weak
age-related macular degenerationOpen Targets
0.08Suggestive
Night blindness, congenital stationary, 1CUniProt
Pathogenic Variants114
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)Pathogenic
not provided|Congenital stationary night blindness 1C
★★☆☆2025→ Residue 848
NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)Pathogenic
Congenital stationary night blindness|TRPM1-related disorder|Congenital stationary night blindness 1C|not provided
★★☆☆2025→ Residue 878
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)Pathogenic
not provided|TRPM1-related disorder|Retinal disorder
★★☆☆2025→ Residue 1022
NM_001252024.2(TRPM1):c.618+3_618+6delPathogenic
Congenital stationary night blindness|not provided
★★☆☆2025
NM_001252024.2(TRPM1):c.494-1G>CPathogenic
Retinal dystrophy|not provided
★★☆☆2025
NM_001252024.2(TRPM1):c.3127+1G>APathogenic
not provided|Retinal dystrophy|Congenital stationary night blindness 1C
★★☆☆2025
NM_001252024.2(TRPM1):c.2849G>A (p.Arg950Gln)Pathogenic
not provided|Retinal dystrophy
★★☆☆2025→ Residue 950
NM_001252024.2(TRPM1):c.3148+1G>APathogenic
Congenital stationary night blindness 1C|TRPM1-related disorder|not provided
★★☆☆2025
NM_001252024.2(TRPM1):c.1089+1G>ALikely pathogenic
not provided|Congenital stationary night blindness 1C
★★☆☆2025
NM_001252024.2(TRPM1):c.2316+1G>APathogenic
not provided
★★☆☆2025
NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs)Pathogenic
Congenital stationary night blindness 1C|not provided
★★☆☆2024→ Residue 1036
NM_001252024.2(TRPM1):c.83+1G>ALikely pathogenic
not provided|Congenital stationary night blindness 1C
★★☆☆2024
NM_001252024.2(TRPM1):c.2388T>A (p.Tyr796Ter)Pathogenic
not provided
★★☆☆2024→ Residue 796
NM_001252024.2(TRPM1):c.2343del (p.Thr782fs)Pathogenic
not provided|Congenital stationary night blindness 1C
★★☆☆2024→ Residue 782
NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter)Pathogenic
not provided|Congenital stationary night blindness 1C
★★☆☆2022→ Residue 656
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)Pathogenic
not provided|Congenital stationary night blindness 1C|Congenital stationary night blindness
★★☆☆2022→ Residue 899
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)Pathogenic
not provided|Congenital stationary night blindness 1C
★★☆☆2022→ Residue 1191
NM_001252024.2(TRPM1):c.123del (p.Leu42fs)Pathogenic
not provided
★☆☆☆2026→ Residue 42
NM_001252024.2(TRPM1):c.3593C>A (p.Ser1198Ter)Likely pathogenic
not provided
★☆☆☆2025→ Residue 1198
NM_001252024.2(TRPM1):c.2317-1G>CLikely pathogenic
not provided
★☆☆☆2025
View on ClinVar ↗
Related Genes
GRM6Protein interaction98%NYXProtein interaction98%MTMR10Protein interaction95%MLANAProtein interaction92%TYRProtein interaction92%TYRP1Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Brain
60%
Ovary
30%
Bone Marrow
20%
Lung
20%
Heart
0%
Gene Interaction Network
Click a node to explore
TRPM1GRM6NYXMTMR10MLANATYRTYRP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z4N2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.61–0.84]
RankingsWhere TRPM1 stands among ~20K protein-coding genes
  • #7,622of 20,598
    Most Researched61
  • #684of 5,498
    Most Pathogenic Variants114 · top quartile
  • #7,215of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedTRPM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TRPM channels in health and disease.
PMID: 37853091
Nat Rev Nephrol · 2024
1.00
2
TRPM1.
PMID: 24756714
Handb Exp Pharmacol · 2014
0.90
3
Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration.
PMID: 31995762
Cell Rep · 2020
0.80
4
PMID: 21290787
0.70
5
A Cell Surface-Binding Antibody Atlas Nominates a MUC18-Directed Antibody-Drug Conjugate for Targeting Melanoma.
PMID: 37668527
Cancer Res · 2023
0.60