TRPM1

Summary

TRPM1 (transient receptor potential cation channel subfamily M member 1, HGNC:7146) is a protein-coding gene on chromosome 15q13.3, encoding Transient receptor potential cation channel subfamily M member 1 (Q7Z4N2). Constitutively open nonselective divalent cation-conducting channels which mediate the influx of Ca(2+), Mg(2+), Mn(2+), Ba(2+), and Ni(2+) into the cytoplasm, leading to membrane depolarization.

This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 4308 — RefSeq curated summary.

At a glance

• Gene–disease (curated): TRPM1-related retinopathy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 1,308 total — 51 pathogenic, 41 likely-pathogenic
• Phenotypes (HPO): 9
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001252024

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7146
Approved symbol	TRPM1
Name	transient receptor potential cation channel subfamily M member 1
Location	15q13.3
Locus type	gene with protein product
Status	Approved
Aliases	LTRPC1, CSNB1C
Ensembl gene	ENSG00000134160
Ensembl biotype	protein_coding
OMIM	603576
Entrez	4308

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000256552, ENST00000397795, ENST00000557948, ENST00000558070, ENST00000558212, ENST00000558445, ENST00000558768, ENST00000559177, ENST00000559179, ENST00000560658, ENST00000560801, ENST00000711434

RefSeq mRNA: 4 — MANE Select: NM_001252024 NM_001252020, NM_001252024, NM_001252030, NM_002420

CCDS: CCDS10024, CCDS58345, CCDS58346, CCDS58347

Canonical transcript exons

ENST00000256552 — 28 exons

Exon	Start	End
ENSE00000912807	31063118	31063292
ENSE00000912809	31066076	31066247
ENSE00000912811	31067063	31067187
ENSE00001127047	31067879	31068092
ENSE00001757399	31070031	31070226
ENSE00002242777	31081353	31081438
ENSE00002269701	31101657	31101725
ENSE00002545499	31001065	31003070
ENSE00003464342	31049375	31049509
ENSE00003482716	31062579	31062702
ENSE00003508901	31076905	31076984
ENSE00003519738	31046204	31046233
ENSE00003520350	31037711	31037842
ENSE00003523119	31050409	31050582
ENSE00003525628	31026915	31027117
ENSE00003544063	31060544	31060644
ENSE00003549251	31047889	31047939
ENSE00003552335	31040118	31040346
ENSE00003580692	31029371	31029391
ENSE00003584085	31047111	31047251
ENSE00003584347	31032689	31032940
ENSE00003590151	31028332	31028476
ENSE00003605115	31026139	31026271
ENSE00003643504	31061442	31061514
ENSE00003651070	31038044	31038166
ENSE00003669993	31041951	31042243
ENSE00003682993	31035546	31035674
ENSE00004015611	31030983	31031157

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 99.09.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.1810 / max 324.8246, expressed in 69 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149122	2.1224	65
149123	0.0255	5
149126	0.0148	5
149125	0.0127	4
149124	0.0056	4

Top tissues by expression

235 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	99.09	gold quality
retina	UBERON:0000966	99.07	gold quality
nipple	UBERON:0002030	77.13	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.16	gold quality
skin of leg	UBERON:0001511	74.05	gold quality
skin of abdomen	UBERON:0001416	72.67	gold quality
zone of skin	UBERON:0000014	72.37	gold quality
mammalian vulva	UBERON:0000997	68.83	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	62.95	gold quality
upper leg skin	UBERON:0004262	62.41	gold quality
penis	UBERON:0000989	61.96	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	58.14	gold quality
esophagus squamous epithelium	UBERON:0006920	58.02	silver quality
spinal cord	UBERON:0002240	56.94	gold quality
pancreatic ductal cell	CL:0002079	56.46	silver quality
testis	UBERON:0000473	56.08	gold quality
left testis	UBERON:0004533	55.87	gold quality
endothelial cell	CL:0000115	55.65	gold quality
right testis	UBERON:0004534	55.59	gold quality
eye	UBERON:0000970	55.49	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
epithelial cell of pancreas	CL:0000083	54.22	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
sperm	CL:0000019	53.23	gold quality
substantia nigra	UBERON:0002038	52.71	gold quality
midbrain	UBERON:0001891	51.30	gold quality
skin of hip	UBERON:0001554	51.05	gold quality
inferior vagus X ganglion	UBERON:0005363	50.58	silver quality
myocardium	UBERON:0002349	50.25	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	3098.90
E-GEOD-81383	yes	1452.31
E-GEOD-137537	yes	1298.10
E-MTAB-7407	yes	903.80
E-MTAB-7316	yes	39.33
E-GEOD-135922	yes	23.76
E-MTAB-8142	yes	20.28
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MITF, TP53

miRNA regulators (miRDB)

36 targeting TRPM1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-4460	99.37	68.52	615
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-4772-3P	98.04	65.60	1203
HSA-MIR-3159	97.94	66.79	1098

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• studies identify MITF as a major transcriptional regulator of TRPM1 and suggest that its prognostic value may be linked to MITF-mediated regulation of cellular differentiation (PMID:14744763)
• These findings suggest that the pattern of TRPM1 mRNA expression may be helpful in the differentiation of Spitz nevi and nodular melanomas. (PMID:19396153)
• Data suggest that TRPM1 is an ion channel whose function is critical to normal melanocyte pigmentation and is thus a potential target for pigmentation disorders. (PMID:19436059)
• The regulation of TRPM1 by ultraviolet and its role in melanogenesis in epidermal melanocytes are reported. (PMID:19587221)
• Recessive mutations of TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness. (PMID:19878917)
• [REVIEW] TRPM1 and TRPM2, are localized in intracellular compartments and are involved in melanin synthesis and oxidative stress-induced cell death (PMID:19887679)
• Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. (PMID:19896109)
• TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. (PMID:19896113)
• Human TRPM1 mutations are associated with the complete form of congenital stationary night blindness in Japanese patients. (PMID:20300565)
• TRPM1 is mutated in patients with autosomal-recessive congenital stationary night blindness. (PMID:20346272)
• TRPM1 mRNA expression is specific for melanocytes and strongly associated with MITF and tyrosinase expression, the latter implicating a mature melanocyte phenotype (PMID:20482673)
• This review covers the significant discoveries related to the physiological function and regulatory mechanism of the TRPM1 channel in retinal ON bipolar cells and the association of human TRPM1 mutations. (PMID:20846719)
• Data demonstrate that TRPM1 proteins are bona fide ion-conducting plasma membrane channels. (PMID:21278253)
• summarize and discuss our present knowledge of TRPM1: its discovery, expression, regulation, and proposed functions in skin and eye (PMID:21290293)
• present investigation found no evidence for an association between sequence variation at the TRPM1 gene and albumin-to-creatinine ratio in Mexican Americans, although it appears to have modest influence on T2DM risk factors (PMID:21439949)
• This study reveals TRPM1 to be one of the autoantigens targeted by autoantibodies in at least some patients with cancer-associated retinopathy or melanoma-associated retinopathy associated with retinal ON bipolar cell dysfunction. (PMID:21611200)
• A proteomic search for proteins associated with nyctalopin in the retina identifies TRPM1 as the binding partner. (PMID:21832182)
• In the human retina TRPM1 is expressed on ON-bipolar cell dendrites that invaginate photoreceptor terminals and is also expressed on the synaptic ribbons of a subclass of rods, suggesting a dual function for TRPM1 in the ON-pathway. (PMID:21896854)
• The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB),No variations were found in TRPM1. (PMID:22735794)
• These data suggest differences in coupling of TRPM1 function to mGluR6 signaling explain different cellular responses to glutamate in the retina and the skin. (PMID:23452348)
• We found 13 different mutations in the TRPM1 gene in congenital stationary night blindness. (PMID:23714322)
• visual deficits in melanoma associated retinopathy are caused by the uptake of TRPM1 autoantibodies into ON-bipolar cells (PMID:23936334)
• This is the first reported case of a melanoma-associated retinopathy diagnosed utilizing the innovative approach of testing for serum TRPM1 autoantibodies. (PMID:24053997)
• genotype-phenotype correlations showed that this eye phenotype was secondary to homozygous deletion of TRPM1, the gene responsible for autosomal recessive congenital stationary night blindness. The main differential diagnosis is ceroid lipofuscinosis. (PMID:24668847)
• these data indicate that purified TRPM1 is mostly dimeric. The three-dimensional structure of TRPM1 dimers is characterized by a small putative transmembrane domain and a larger domain with a hollow cavity. (PMID:25112866)
• Affected family members harboured the homozygous 1-bp deletion c.2394delC in exon 18 of the TRPM1 gene, whereas their unaffected parents were heterozygous carriers. (PMID:27084085)
• Loss of TRPM1 mRNA expression appears to be a crucial event in the progression of melanoma to a more malignant, metastatic phenotype. (PMID:27987328)
• This study reveals the structural underpinnings of TRPML1’s regulation, assembly and pathogenesis. (PMID:28112729)
• We have confirmed the TRPM1 36,445 bp deletion is a founder mutation in the Ashkenazi-Jewish (AJ) population with a carrier rate of 1 in 50. We have also confirmed the 35,741 bp deletion in the CACNA2D4 gene is a founder mutation in the AJ population with a carrier rate of 1 in 56. (PMID:28726569)
• These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone. (PMID:28813576)
• TRPM1-associated cCSNB is a channelopathy that may present without complaints of night blindness in childhood. (PMID:29522070)
• The results indicate that the majority of transient receptor potential melastatin-1 is present in the endoplasmic reticulum, from which it can potentially be transported to the dendritic tips as needed for ON light responses. (PMID:30027108)
• TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations. (PMID:31427709)
• Serum SUR1 and TRPM4 in patients with subarachnoid hemorrhage. (PMID:31707576)
• A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in TRPM1 was identified in two siblings. (PMID:31908403)
• Genetic polymorphisms of transient receptor potential melastatin 1 correlate with voriconazole-related visual adverse events. (PMID:32222082)
• A case of melanoma-associated retinopathy with autoantibodies against TRPM1. (PMID:32472235)
• Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population. (PMID:33001715)
• Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1. (PMID:33691579)
• Clinical and genetic findings in TRPM1-related congenital stationary night blindness. (PMID:35633130)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	trpm1a	ENSDARG00000011259
danio_rerio	trpm1b	ENSDARG00000103476
mus_musculus	Trpm1	ENSMUSG00000030523
rattus_norvegicus	Trpm1	ENSRNOG00000015829
drosophila_melanogaster	Trpm	FBGN0265194
caenorhabditis_elegans	gon-2	WBGENE00001651
caenorhabditis_elegans		WBGENE00004149
caenorhabditis_elegans		WBGENE00020972
caenorhabditis_elegans		WBGENE00021404
caenorhabditis_elegans		WBGENE00021408

Paralogs (7): TRPM5 (ENSG00000070985), TRPM3 (ENSG00000083067), TRPM7 (ENSG00000092439), TRPM6 (ENSG00000119121), TRPM4 (ENSG00000130529), TRPM2 (ENSG00000142185), TRPM8 (ENSG00000144481)

Protein

Protein identifiers

Transient receptor potential cation channel subfamily M member 1 — Q7Z4N2 (reviewed: Q7Z4N2)

Alternative names: Long transient receptor potential channel 1, Melastatin-1

All UniProt accessions (6): A0A0A0MTQ9, A0A0A0MTR0, A0AAA9YHX4, Q7Z4N2, H0YKU7, H0YM61

UniProt curated annotations — full annotation on UniProt →

Function. Constitutively open nonselective divalent cation-conducting channels which mediate the influx of Ca(2+), Mg(2+), Mn(2+), Ba(2+), and Ni(2+) into the cytoplasm, leading to membrane depolarization. Impermeable to zinc ions. In addition, forms heteromultimeric ion channels with TRPM3 which are permeable for calcium and zinc ions. Plays an essential role for the depolarizing photoresponse of retinal ON bipolar cells. In the dark, tonic release of glutamate activates the G-protein coupled receptor for glutamate, GRM6, its activation induces the release of G(o) protein and the beta-gamma G protein dimer. Both subunits can interact and inactivate the TRPM1 channel. A light onset, induces decrease in glutamate release and deactivation of GRM6 leading to channel opening and membrane depolarization. May play a role in metastasis suppression.

Subunit / interactions. Interacts with TRPM3; the interaction results in the formation of a heteromultimeric cation channel complex that are functionally different from the homomeric channels. Interacts with GPR179. Associates with both guanine nucleotide-binding proteins G(o) and beta-gamma G protein dimer; implicated in directly regulating TRPM1 channel open-state. Interacts with NYX and GRM6; the interaction is required for localization to dendritic tips of ON bipolar cells.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Cell projection. Axon.

Tissue specificity. Expressed in the retina where it localizes to the outer plexiform layer. Specifically, it is expressed in retinal bipolar cells (BPCs) of the ON subtype. Highly expressed in benign melanocytic nevi and diffusely expressed in various in situ melanomas, but not detected in melanoma metastases. Also expressed in melanocytes and pigmented metastatic melanoma cell lines. In melanocytes expression appears to be regulated at the level of transcription and mRNA processing.

Disease relevance. Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by extracellular zinc ions. Inhibited by intracellular Mg(2+). Activated by the neuroactive steroid pregnenolone sulfate. Negatively regulated by activation of GRM6 receptors in the ON-bipolar cells.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily.

Isoforms (7)

UniProt ID	Names	Canonical?
Q7Z4N2-1	1	yes
Q7Z4N2-2	2
Q7Z4N2-3	3
Q7Z4N2-4	4
Q7Z4N2-5	5
Q7Z4N2-6	6
Q7Z4N2-7	7

RefSeq proteins (4): NP_001238949, NP_001238953, NP_001238959, NP_002411 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005821	Ion_trans_dom	Domain
IPR032415	TRPM_tetra	Domain
IPR037162	TRPM_tetra_sf	Homologous_superfamily
IPR041491	TRPM_SLOG	Domain
IPR050927	TRPM	Family
IPR057366	TRPM-like	Domain

Pfam: PF00520, PF16519, PF18139, PF25508

Catalyzed reactions (Rhea), 4 shown:

• Mn(2+)(in) = Mn(2+)(out) (RHEA:28699)
• Ca(2+)(in) = Ca(2+)(out) (RHEA:29671)
• Mg(2+)(in) = Mg(2+)(out) (RHEA:29827)
• Ni(2+)(in) = Ni(2+)(out) (RHEA:29831)

UniProt features (63 total): sequence variant 26, topological domain 7, splice variant 7, transmembrane region 6, region of interest 5, compositionally biased region 4, sequence conflict 3, mutagenesis site 2, chain 1, coiled-coil region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z4N2-F1	66.74	0.17

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 1076

Mutagenesis-validated functional residues (2):

Position	Phenotype
989	reduces inhibition by zinc allowing zinc ion influx.
1021–1027	abolishes inhibition by zinc allowing zinc ion influx.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-3295583	TRP channels
R-HSA-9824594	Regulation of MITF-M-dependent genes involved in apoptosis

MSigDB gene sets: 176 (showing top): YAATNRNNNYNATT_UNKNOWN, NKX25_02, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, chr15q13, GOBP_G_PROTEIN_COUPLED_GLUTAMATE_RECEPTOR_SIGNALING_PATHWAY, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, TCF4_Q5, CEBP_Q2, GOBP_CALCIUM_ION_IMPORT, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, MODULE_256, MODULE_480, GOBP_RESPONSE_TO_RADIATION, TGACATY_UNKNOWN

GO Biological Process (11): calcium ion transport (GO:0006816), G protein-coupled glutamate receptor signaling pathway (GO:0007216), visual perception (GO:0007601), protein tetramerization (GO:0051262), calcium ion transmembrane transport (GO:0070588), cellular response to light stimulus (GO:0071482), monoatomic cation transmembrane transport (GO:0098655), calcium ion import across plasma membrane (GO:0098703), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)

GO Molecular Function (6): calcium channel activity (GO:0005262), monoatomic cation transmembrane transporter activity (GO:0008324), monoatomic ion channel activity (GO:0005216), monoatomic cation channel activity (GO:0005261), protein binding (GO:0005515), metal ion transmembrane transporter activity (GO:0046873)

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), axon (GO:0030424), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Stimuli-sensing channels	1
MITF-M-dependent gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metal ion transport	2
monoatomic cation transmembrane transport	2
transport	2
monoatomic ion transmembrane transporter activity	2
monoatomic cation transmembrane transporter activity	2
cellular anatomical structure	2
G protein-coupled receptor signaling pathway	1
glutamate receptor signaling pathway	1
G protein-coupled glutamate receptor activity	1
sensory perception of light stimulus	1
protein complex oligomerization	1
calcium ion transport	1
response to light stimulus	1
cellular response to radiation	1
monoatomic cation transport	1
monoatomic ion transmembrane transport	1
calcium ion import	1
calcium ion transmembrane import into cytosol	1
inorganic cation import across plasma membrane	1
calcium ion import into cytosol	1
monoatomic ion transport	1
transmembrane transport	1
cellular process	1
monoatomic cation channel activity	1
calcium ion transmembrane transporter activity	1
channel activity	1
monoatomic ion channel activity	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
neuron projection	1

Protein interactions and networks

STRING

1056 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRPM1	NYX	Q9GZU5	975
TRPM1	GRM6	O15303	974
TRPM1	MTMR10	Q9NXD2	931
TRPM1	LRIT3	Q3SXY7	853
TRPM1	FAN1	Q9Y2M0	852
TRPM1	TYR	P14679	783
TRPM1	TYRP1	P17643	766
TRPM1	TRPV1	Q8NER1	734
TRPM1	MITF	O75030	687
TRPM1	GPR179	Q6PRD1	680
TRPM1	CACNA1F	O60840	673
TRPM1	CABP4	P57796	661
TRPM1	OTUD7A	Q8TE49	651
TRPM1	GNAO1	P09471	642
TRPM1	MLANA	Q16655	606

IntAct

122 interactions, top by confidence:

A	B	Type	Score
TRPM1	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	GIPC2	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	LIN7C	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	TRPM1	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	PCLO	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
TRPM1	GORASP1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (12): TRPM1 (Affinity Capture-MS), TRPM1 (Affinity Capture-MS), TRPM1 (Affinity Capture-MS), TRPM1 (Two-hybrid), TRPM1 (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), TRPM1 (Reconstituted Complex), TRPM1 (Affinity Capture-MS), TRPM1 (Affinity Capture-MS), TRPM1 (Affinity Capture-MS), TRPM1 (Affinity Capture-MS), TRPM1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0R4IMY7, A0JPA0, A2AP18, A8DYE2, J9SQF3, O00329, O35904, O75038, P0C1Q3, P0C588, P19687, P33402, P48736, P97557, Q02108, Q09M05, Q148L1, Q1LWG4, Q2TV84, Q2WEA5, Q3USB7, Q4ZHS0, Q502J0, Q5EBA1, Q60565, Q62688, Q69ZF7, Q6P4Q7, Q6PA06, Q7L5N7, Q7TN37, Q7Z2W7, Q7Z4N2, Q80YD1, Q8BTI9, Q8BYI6, Q8BZN2, Q8CIR4, Q8NHH9, Q8R455

Diamond homologs: A0A0R4IMY7, A7T1N0, A8DYE2, E9PTA2, J9SQF3, O94759, Q2TV84, Q2WEA5, Q5XIG0, Q7TN37, Q7Z2W7, Q7Z4N2, Q8BVU5, Q8R455, Q8R4D5, Q8TD43, Q91YD4, Q9BW91, Q9ESQ5, Q9HCF6, Q9JJH7, Q9NZQ8, S5UH55, Q09297, Q8CIR4, Q923J1, Q925B3, Q96QT4, Q9BX84, Q93971, O00418, O01991, P42527, P90648, Q54SF9, Q6B9X6, Q8MY12, Q54DK4, Q86TB3, Q91ZB0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MITF	“up-regulates quantity by expression”	TRPM1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Assembly and cell surface presentation of NMDA receptors	8	39.8×	2e-09
Neurexins and neuroligins	9	34.8×	9e-10
Protein-protein interactions at synapses	6	31.2×	3e-06

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	9	68.8×	2e-12
receptor clustering	7	57.5×	6e-09
protein localization to synapse	5	50.4×	5e-06
regulation of postsynaptic membrane neurotransmitter receptor levels	5	32.6×	3e-05
cell-cell adhesion	9	12.0×	5e-06
protein-containing complex assembly	8	12.0×	3e-05
chemical synaptic transmission	6	6.1×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1308 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	51
Likely pathogenic	41
Uncertain significance	590
Likely benign	436
Benign	102

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069278	NM_001252024.2(TRPM1):c.763_764insCTGCG (p.His255fs)	Pathogenic
1071080	NM_001252024.2(TRPM1):c.733G>T (p.Glu245Ter)	Pathogenic
1073921	NM_001252024.2(TRPM1):c.745C>T (p.Arg249Ter)	Pathogenic
1323717	NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)	Pathogenic
1368732	NM_001252024.2(TRPM1):c.1919G>A (p.Trp640Ter)	Pathogenic
1372145	NM_001252024.2(TRPM1):c.1962G>A (p.Trp654Ter)	Pathogenic
1431480	NM_001252024.2(TRPM1):c.336del (p.Asp113fs)	Pathogenic
1441780	NM_001252024.2(TRPM1):c.1566T>A (p.Tyr522Ter)	Pathogenic
1451202	NM_001252024.2(TRPM1):c.2925del (p.Pro976fs)	Pathogenic
1452756	NM_001252024.2(TRPM1):c.403C>T (p.Gln135Ter)	Pathogenic
1453529	NM_001252024.2(TRPM1):c.1369A>T (p.Lys457Ter)	Pathogenic
1457255	NM_001252024.2(TRPM1):c.2250C>A (p.Cys750Ter)	Pathogenic
1458159	NM_001252024.2(TRPM1):c.2388T>A (p.Tyr796Ter)	Pathogenic
1459633	NM_001252024.2(TRPM1):c.482del (p.Gly161fs)	Pathogenic
1517049	NM_001252024.2(TRPM1):c.3127+1G>A	Pathogenic
1710199	NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)	Pathogenic
1951885	NM_001252024.2(TRPM1):c.1893del (p.Gln631fs)	Pathogenic
1996737	NM_001252024.2(TRPM1):c.2737dup (p.Ile913fs)	Pathogenic
2004067	NM_001252024.2(TRPM1):c.370dup (p.Ser124fs)	Pathogenic
2013040	NM_001252024.2(TRPM1):c.3132C>A (p.Tyr1044Ter)	Pathogenic
2111311	NM_001252024.2(TRPM1):c.1343del (p.Gly448fs)	Pathogenic
2137643	NM_001252024.2(TRPM1):c.2343del (p.Thr782fs)	Pathogenic
2706972	NM_001252024.2(TRPM1):c.2501_2502del (p.Arg834fs)	Pathogenic
2716312	NM_001252024.2(TRPM1):c.836del (p.Gly279fs)	Pathogenic
2756723	NM_001252024.2(TRPM1):c.1134del (p.Met379fs)	Pathogenic
2797375	NM_001252024.2(TRPM1):c.3097_3104del (p.Tyr1033fs)	Pathogenic
2879560	NM_001252024.2(TRPM1):c.1223_1224del (p.Ile408fs)	Pathogenic
2986734	NM_001252024.2(TRPM1):c.553dup (p.Val185fs)	Pathogenic
30363	NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter)	Pathogenic
30364	NM_001252024.2(TRPM1):c.1089+3_1089+6del	Pathogenic

SpliceAI

4477 predictions. Top by Δscore:

Variant	Effect	Δscore
15:31026134:CGTA:C	donor_loss	1.0000
15:31026136:TACCT:T	donor_loss	1.0000
15:31026137:A:AC	donor_gain	1.0000
15:31026137:A:AG	donor_loss	1.0000
15:31026137:AC:A	donor_gain	1.0000
15:31026138:C:CG	donor_gain	1.0000
15:31026138:CC:C	donor_gain	1.0000
15:31026138:CCT:C	donor_gain	1.0000
15:31026138:CCTT:C	donor_gain	1.0000
15:31026138:CCTTT:C	donor_gain	1.0000
15:31026267:GAGCT:G	acceptor_gain	1.0000
15:31026268:AGCT:A	acceptor_gain	1.0000
15:31026270:CT:C	acceptor_gain	1.0000
15:31026272:C:CC	acceptor_gain	1.0000
15:31026272:C:CG	acceptor_loss	1.0000
15:31026273:T:A	acceptor_loss	1.0000
15:31026296:C:CT	acceptor_gain	1.0000
15:31026298:CG:C	acceptor_gain	1.0000
15:31026299:G:GC	acceptor_gain	1.0000
15:31026913:A:AC	donor_gain	1.0000
15:31026914:C:CC	donor_gain	1.0000
15:31026914:CT:C	donor_gain	1.0000
15:31026917:A:AC	donor_gain	1.0000
15:31026917:AAT:A	donor_gain	1.0000
15:31026917:AATC:A	donor_gain	1.0000
15:31026918:A:C	donor_gain	1.0000
15:31026932:T:A	donor_gain	1.0000
15:31026957:T:A	donor_gain	1.0000
15:31028328:GTAC:G	donor_loss	1.0000
15:31028329:TA:T	donor_loss	1.0000

AlphaMissense

10762 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:31027077:A:G	W1090R	1.000
15:31027077:A:T	W1090R	1.000
15:31028350:A:G	L1070P	1.000
15:31028380:A:G	L1060P	1.000
15:31031107:A:C	S979R	1.000
15:31031107:A:T	S979R	1.000
15:31031109:T:G	S979R	1.000
15:31040227:A:G	L714P	1.000
15:31027055:A:G	L1097P	0.999
15:31027064:C:G	R1094P	0.999
15:31027069:G:C	F1092L	0.999
15:31027069:G:T	F1092L	0.999
15:31027071:A:G	F1092L	0.999
15:31027075:C:A	W1090C	0.999
15:31027075:C:G	W1090C	0.999
15:31028334:G:C	F1075L	0.999
15:31028334:G:T	F1075L	0.999
15:31028336:A:G	F1075L	0.999
15:31028347:A:G	L1071P	0.999
15:31028352:G:C	N1069K	0.999
15:31028352:G:T	N1069K	0.999
15:31028362:A:G	L1066P	0.999
15:31028367:G:C	N1064K	0.999
15:31028367:G:T	N1064K	0.999
15:31028387:A:G	C1058R	0.999
15:31028411:A:G	W1050R	0.999
15:31028411:A:T	W1050R	0.999
15:31030999:A:C	F1015L	0.999
15:31030999:A:T	F1015L	0.999
15:31031000:A:C	F1015C	0.999

dbSNP variants (sampled 300 via entrez): RS1000023299 (15:31117964 A>G,T), RS1000029450 (15:31002263 C>A), RS1000036045 (15:31087175 G>A,C), RS1000045585 (15:31098042 CTTAT>C), RS1000059867 (15:31046787 T>C), RS1000063523 (15:31062091 C>G,T), RS1000085033 (15:31118222 C>T), RS1000106100 (15:31008572 G>C), RS1000111743 (15:31143743 T>C), RS1000118790 (15:31156596 G>A,T), RS1000153998 (15:31140909 A>C,G), RS1000170326 (15:31070534 A>T), RS1000222143 (15:31127596 A>C), RS1000225525 (15:31013744 G>T), RS1000253090 (15:31019976 A>G)

Disease associations

OMIM: gene MIM:603576 | disease phenotypes: MIM:613216, MIM:310500, MIM:268000, MIM:120970

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital stationary night blindness 1C	Definitive	Autosomal recessive
congenital stationary night blindness	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
TRPM1-related retinopathy	Definitive	AR

Mondo (11): congenital stationary night blindness 1C (MONDO:0013183), hereditary macular dystrophy (MONDO:0020242), inherited retinal dystrophy (MONDO:0019118), retinal disorder (MONDO:0005283), optic atrophy (MONDO:0003608), night blindness (MONDO:0004588), congenital stationary night blindness (MONDO:0016293), ependymoma (MONDO:0016698), retinitis pigmentosa (MONDO:0019200), cone-rod dystrophy (MONDO:0015993), intellectual disability (MONDO:0001071)

Orphanet (7): Congenital stationary night blindness (Orphanet:215), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Ependymoma (Orphanet:251636), Retinitis pigmentosa (Orphanet:791), Cone rod dystrophy (Orphanet:1872), OBSOLETE: Genetic macular dystrophy (Orphanet:98664), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

9 total (10 of 9 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000486	Strabismus
HP:0000512	Abnormal electroretinogram
HP:0000545	Myopia
HP:0000639	Nystagmus
HP:0000958	Dry skin
HP:0001000	Abnormality of skin pigmentation
HP:0007642	Early-onset non-progressive night blindness
HP:0007663	Reduced visual acuity
HP:0000556	Retinal dystrophy

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000473_7	Response to antipsychotic treatment	3.000000e-06
GCST001905_9	Hypertriglyceridemia	6.000000e-06
GCST004691_16	Huntington’s disease progression	8.000000e-06
GCST004868_1	Advanced age-related macular degeneration	2.000000e-07
GCST006484_3	Type 2 diabetes	2.000000e-07
GCST006976_47	Macular thickness	3.000000e-14
GCST007511_17	Alzheimer’s disease (late onset)	7.000000e-06
GCST010002_164	Refractive error	5.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0008336	disease progression measurement
EFO:1001870	late-onset Alzheimers disease

MeSH disease descriptors (10)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D004806	Ependymoma	C04.557.465.625.600.380.290; C04.557.470.670.380.290; C04.557.580.625.600.380.290
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009755	Night Blindness	C11.966.671
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C567704	CSNB1C (supp.)
C536122	Night blindness, congenital stationary (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: vgic — Transient Receptor Potential channels (TRP)

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
Zn2+	Channel blocker	6.0	pIC50

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases methylation	2
bisphenol A	affects cotreatment, decreases methylation	1
VX-agent	increases expression	1
manganese chloride	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	decreases expression, increases abundance	1
Lipopolysaccharides	affects response to substance, increases expression	1
Manganese	increases expression	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

235 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01955135	PHASE4	COMPLETED	Anesthesia for Retinopathy of Prematurity
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT00517959	PHASE3	UNKNOWN	SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors
NCT01096368	PHASE3	COMPLETED	Maintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Ependymoma
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT01373476	PHASE2	COMPLETED	Multicentre, Randomized, Controlled Trial of Qideng Mingmu Capsule in The Treatment of Diabetic Retinopathy
NCT01793090	PHASE2	COMPLETED	EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
NCT00003479	PHASE2	TERMINATED	Antineoplaston Therapy in Treating Patients With Ependymoma
NCT00520936	PHASE2	COMPLETED	A Study of Pemetrexed in Children With Recurrent Cancer
NCT00840047	PHASE2	ACTIVE_NOT_RECRUITING	Methionine PET/CT Studies In Patients With Cancer
NCT01088035	PHASE2	TERMINATED	Carboplatin as a Radiosensitizer in Treating Childhood Ependymoma
NCT01247922	PHASE2	TERMINATED	Single-agent Erlotinib in Patients Previously Treated With Oral Etoposide in Protocol OSI-774-205
NCT01288235	PHASE2	COMPLETED	Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation
NCT01295944	PHASE2	COMPLETED	Carboplatin and Bevacizumab for Recurrent Ependymoma
NCT01356290	PHASE2	RECRUITING	Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
NCT01836549	PHASE2	TERMINATED	Imetelstat Sodium in Treating Younger Patients With Recurrent or Refractory Brain Tumors
NCT02125786	PHASE2	ACTIVE_NOT_RECRUITING	A Trial of Surgery and Fractionated Re-Irradiation for Recurrent Ependymoma
NCT02689336	PHASE2	WITHDRAWN	Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors
NCT03095248	PHASE2	TERMINATED	Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors
NCT03155620	PHASE2	ACTIVE_NOT_RECRUITING	Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03173950	PHASE2	COMPLETED	Immune Checkpoint Inhibitor Nivolumab in People With Recurrent Select Rare CNS Cancers
NCT03194906	PHASE2	COMPLETED	Memantine for Prevention of Cognitive Late Effects in Pediatric Patients Receiving Cranial Radiation Therapy for Localized Brain Tumors
NCT03210714	PHASE2	ACTIVE_NOT_RECRUITING	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652	PHASE2	ACTIVE_NOT_RECRUITING	Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213665	PHASE2	COMPLETED	Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
NCT03213678	PHASE2	COMPLETED	Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)