CMTR2

Summary

CMTR2 (cap methyltransferase 2, HGNC:25635) is a protein-coding gene on chromosome 16q22.2, encoding Cap-specific mRNA (nucleoside-2’-O-)-methyltransferase 2 (Q8IYT2). S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2’-O-ribose methylation to the 5’-cap structure of mRNAs.

Enables mRNA (nucleoside-2’-O-)-methyltransferase activity. Involved in 7-methylguanosine mRNA capping. Located in cytoplasm and nucleus.

Source: NCBI Gene 55783 — RefSeq curated summary.

At a glance

• Gene–disease (curated): melanoma (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 103 total
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_018348

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25635
Approved symbol	CMTR2
Name	cap methyltransferase 2
Location	16q22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11171, AFT, MTr2
Ensembl gene	ENSG00000180917
Ensembl biotype	protein_coding
OMIM	616190
Entrez	55783

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 15 protein_coding, 1 retained_intron

ENST00000338099, ENST00000434935, ENST00000563876, ENST00000564183, ENST00000564690, ENST00000565850, ENST00000567610, ENST00000568910, ENST00000894123, ENST00000894124, ENST00000894125, ENST00000929126, ENST00000929127, ENST00000965587, ENST00000965588, ENST00000965589

RefSeq mRNA: 6 — MANE Select: NM_018348 NM_001099642, NM_001324374, NM_001324377, NM_001324378, NM_001324379, NM_018348

CCDS: CCDS10898

Canonical transcript exons

ENST00000434935 — 3 exons

Exon	Start	End
ENSE00001283289	71288878	71288937
ENSE00001361092	71281392	71285939
ENSE00001620550	71289136	71289402

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 93.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8541 / max 71.2498, expressed in 1785 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157997	10.3843	1782
157996	0.3350	147
157998	0.1348	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	93.31	gold quality
ileal mucosa	UBERON:0000331	92.52	gold quality
jejunal mucosa	UBERON:0000399	92.22	gold quality
epithelium of nasopharynx	UBERON:0001951	92.19	gold quality
epithelial cell of pancreas	CL:0000083	91.37	gold quality
palpebral conjunctiva	UBERON:0001812	91.22	gold quality
oral cavity	UBERON:0000167	90.42	gold quality
amniotic fluid	UBERON:0000173	90.02	gold quality
corpus epididymis	UBERON:0004359	88.43	gold quality
islet of Langerhans	UBERON:0000006	87.94	gold quality
tibia	UBERON:0000979	87.84	gold quality
esophagus squamous epithelium	UBERON:0006920	87.69	gold quality
parietal pleura	UBERON:0002400	87.29	gold quality
visceral pleura	UBERON:0002401	87.07	gold quality
oviduct epithelium	UBERON:0004804	87.06	gold quality
adrenal tissue	UBERON:0018303	86.64	gold quality
mucosa of paranasal sinus	UBERON:0005030	86.51	gold quality
endometrium	UBERON:0001295	86.47	gold quality
duodenum	UBERON:0002114	86.13	gold quality
skin of hip	UBERON:0001554	85.91	gold quality
caput epididymis	UBERON:0004358	85.76	gold quality
pigmented layer of retina	UBERON:0001782	85.65	gold quality
metanephros	UBERON:0000081	85.62	gold quality
upper leg skin	UBERON:0004262	85.60	gold quality
colonic mucosa	UBERON:0000317	85.03	gold quality
mucosa of sigmoid colon	UBERON:0004993	84.85	gold quality
jejunum	UBERON:0002115	84.81	gold quality
rectum	UBERON:0001052	84.65	gold quality
superficial temporal artery	UBERON:0001614	84.65	gold quality
cauda epididymis	UBERON:0004360	84.59	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting CMTR2, 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-9-5P	100.00	72.28	2361
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778

Literature-anchored findings (GeneRIF, showing 2)

• A report on the validation of a human enzyme that methylates the ribose of the second transcribed nucleotide encoded by FTSJD1. (PMID:21310715)
• Crystal structures of the active CMTr2 catalytic domain in complex with a methyl group donor and a capped oligoribonucleotide are examined, thereby revealing the mechanism of specific recognition of capped RNA. (PMID:24402442)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cmtr2	ENSDARG00000036345
mus_musculus	Cmtr2	ENSMUSG00000046441
rattus_norvegicus	Cmtr2	ENSRNOG00000017102
drosophila_melanogaster	aft	FBGN0026309
caenorhabditis_elegans		WBGENE00021502

Paralogs (1): CMTR1 (ENSG00000137200)

Protein

Protein identifiers

Cap-specific mRNA (nucleoside-2’-O-)-methyltransferase 2 — Q8IYT2 (reviewed: Q8IYT2)

Alternative names: Cap methyltransferase 2, Cap2 2’O-ribose methyltransferase 2, FtsJ methyltransferase domain-containing protein 1, Protein adrift homolog

All UniProt accessions (6): Q8IYT2, H3BNZ8, H3BR19, H3BS00, H3BTZ7, H3BUK2

UniProt curated annotations — full annotation on UniProt →

Function. S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2’-O-ribose methylation to the 5’-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognizes a guanosine cap on RNA independently of its N(7) methylation status. Display cap2 methylation on both cap0 and cap1. Displays a preference for cap1 RNAs.

Subcellular location. Nucleus. Cytoplasm.

RefSeq proteins (6): NP_001093112, NP_001311303, NP_001311306, NP_001311307, NP_001311308, NP_060818* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002877	RNA_MeTrfase_FtsJ_dom	Domain
IPR025807	Adrift-typ_MeTrfase	Domain
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily
IPR050851	mRNA_Cap_2O-Ribose_MeTrfase	Family

Pfam: PF01728

Enzyme classification (BRENDA):

• EC 2.1.1.296 — methyltransferase cap2 (BRENDA: 4 organisms, 6 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• a 5’-end (N(7)-methyl 5’-triphosphoguanosine)-(2’-O-methyl-ribonucleoside)-(ribonucleotide) in mRNA + S-adenosyl-L-methionine = a 5’-end (N(7)-methyl 5’-triphosphoguanosine)-(2’-O-methyl-ribonucleoside)-(2’-O-methyl-ribonucleotide) in mRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:67024)

UniProt features (35 total): mutagenesis site 13, sequence conflict 9, sequence variant 5, active site 3, binding site 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYT2-F1	86.01	0.63

Functional residue map

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

Catalytic / active sites (3): 117; 235; 275 (proton acceptor)

Ligand- & substrate-binding residues (3): 148; 167; 235

Mutagenesis-validated functional residues (13):

Position	Phenotype
74	strongly reduces mrna cap binding and catalytic activity of the enzyme.
77	strongly reduces mrna cap binding and catalytic activity of the enzyme.
78	only mildly affects mrna cap binding and catalytic activity of the enzyme.
85	strongly reduces mrna cap binding and catalytic activity of the enzyme.
86	only mildly affects mrna cap binding and catalytic activity of the enzyme.
89	strongly reduces mrna cap binding and catalytic activity of the enzyme.
113	only mildly affects mrna cap binding and catalytic activity of the enzyme.
117	abolishes catalytic activity.
142	strongly reduces mrna cap binding and catalytic activity of the enzyme.
145	strongly reduces mrna cap binding and catalytic activity of the enzyme.
235	abolishes catalytic activity.
275	abolishes catalytic activity.
307	strongly reduces mrna cap binding and catalytic activity of the enzyme.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 118 (showing top): RNGTGGGC_UNKNOWN, chr16q22, GOBP_RNA_CAPPING, GOBP_METHYLATION, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, BERENJENO_TRANSFORMED_BY_RHOA_UP, NKX3A_01, XU_GH1_AUTOCRINE_TARGETS_DN, TAATTA_CHX10_01, LEE_RECENT_THYMIC_EMIGRANT, SCGGAAGY_ELK1_02, GOMF_RNA_METHYLTRANSFERASE_ACTIVITY, GOMF_O_METHYLTRANSFERASE_ACTIVITY, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS, MARTENS_TRETINOIN_RESPONSE_DN

GO Biological Process (4): 7-methylguanosine mRNA capping (GO:0006370), methylation (GO:0032259), RNA processing (GO:0006396), mRNA processing (GO:0006397)

GO Molecular Function (6): methyltransferase cap1 activity (GO:0004483), methyltransferase cap2 activity (GO:0120550), methyltransferase activity (GO:0008168), RNA methyltransferase activity (GO:0008173), S-adenosylmethionine-dependent methyltransferase activity (GO:0008757), transferase activity (GO:0016740)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
O-methyltransferase activity	2
RNA methyltransferase activity	2
methyltransferase activity	2
mRNA processing	1
7-methylguanosine RNA capping	1
metabolic process	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
RNA processing	1
mRNA metabolic process	1
transferase activity, transferring one-carbon groups	1
catalytic activity, acting on RNA	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

804 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CMTR2	RNMT	O43148	725
CMTR2	RNGTT	O60942	690
CMTR2	DXO	O77932	527
CMTR2	PSME3IP1	Q9GZU8	507
CMTR2	TRMT13	Q9NUP7	486
CMTR2	CPNE2	Q96FN4	483
CMTR2	RAMAC	Q9BTL3	480
CMTR2	TRMT44	Q8IYL2	469
CMTR2	PCIF1	Q9H4Z3	439
CMTR2	COG4	Q9H9E3	436
CMTR2	FAM161B	Q96MY7	435
CMTR2	MRM2	Q9UI43	434
CMTR2	TRMT10C	Q7L0Y3	418
CMTR2	GPATCH2	Q9NW75	414
CMTR2	FTSJ3	Q8IY81	404

IntAct

35 interactions, top by confidence:

A	B	Type	Score
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNRPG	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670
SNRNP70	GEMIN2	psi-mi:“MI:0914”(association)	0.640
SNRPB	SART1	psi-mi:“MI:0914”(association)	0.640
SNRPE	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNRPN	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNRPE	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
SNRPF	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
SNRNP70	GTPBP1	psi-mi:“MI:0914”(association)	0.530
SNRPC	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
CMTR2	HSPD1	psi-mi:“MI:0915”(physical association)	0.400
	PABPC4	psi-mi:“MI:0914”(association)	0.350
SNRNP70	SMN1	psi-mi:“MI:0914”(association)	0.350
SNRPGP15	GEMIN2	psi-mi:“MI:0914”(association)	0.350
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.350
rep	VWA8	psi-mi:“MI:0914”(association)	0.350
SNRPA	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPB	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPC	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPF	SUPT5H	psi-mi:“MI:0914”(association)	0.350

BioGRID (31): PARVA (Co-fractionation), CMTR2 (Synthetic Lethality), CMTR2 (Affinity Capture-MS), CMTR2 (Affinity Capture-MS), CMTR2 (Affinity Capture-MS), CMTR2 (Affinity Capture-MS), CMTR2 (Affinity Capture-MS), CMTR2 (Biochemical Activity), CMTR2 (Proximity Label-MS), CMTR2 (Affinity Capture-RNA), CMTR2 (Affinity Capture-MS), CMTR2 (Affinity Capture-MS), CMTR2 (Affinity Capture-MS), CMTR2 (Affinity Capture-MS), CMTR2 (Affinity Capture-MS)

ESM2 similar proteins: A0JMU5, A1A4L5, A2AV36, A2Y8B9, B0X4N1, B3DLB3, B3M1E1, B3MF31, B3P4N5, B4GZ20, B4HJC0, B4I8G2, B4JXV2, B4KA23, B4LVS8, B4NKI9, B4P925, B4PVH6, B4QI55, B4QVW6, B6DMK2, D9IVE5, O14727, O60678, O70467, O88879, Q0V9P1, Q16NS8, Q29B63, Q3EBC8, Q3U213, Q3U3W5, Q4SBY6, Q5RAY7, Q5ZIB9, Q6P2P2, Q6P5U7, Q6PCI6, Q7QIL2, Q80VJ4

Diamond homologs: A2VE39, A4HQI9, A8XYX2, A8XYX3, D2HRF1, O36015, P0C967, P0C968, P0C969, P0C970, P41469, Q38AH0, Q4E123, Q4Q089, Q54WR1, Q5R981, Q5RAY7, Q5U2Z5, Q65148, Q6GQ76, Q7ZVS8, Q803R5, Q8BWQ4, Q8IYT2, Q8N1G2, Q9DBC3, Q9NAA5, Q9UAS6, Q9W4N2, Q2KI19, Q3UFS4, Q6DF57, Q8N954, Q1QKB6, A9KGE6, A9N8M5, B6IZD5, B6J802, Q83BY4, P63123

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 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
Metabolism of non-coding RNA	8	282.0×	8e-18
snRNP Assembly	9	105.7×	3e-16
SARS-CoV-2 modulates host translation machinery	8	99.5×	3e-14
mRNA Splicing - Minor Pathway	6	74.6×	5e-10
mRNA Splicing	11	67.1×	1e-17
RNA Polymerase II Transcription Termination	5	61.0×	5e-08
Processing of Capped Intron-Containing Pre-mRNA	11	50.2×	3e-16
mRNA Polyadenylation	10	48.8×	1e-14

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal snRNP assembly	11	304.4×	2e-24
U2-type prespliceosome assembly	6	178.3×	1e-11
spliceosomal complex assembly	5	143.3×	3e-09
mRNA splicing, via spliceosome	12	52.3×	3e-17
RNA splicing	7	29.4×	4e-08

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — LUAD.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

556 predictions. Top by Δscore:

Variant	Effect	Δscore
16:71289184:A:AC	donor_gain	0.9900
16:71289185:C:CC	donor_gain	0.9900
16:71289211:T:TA	donor_gain	0.9900
16:71289245:C:A	donor_gain	0.9900
16:71289403:AAGTC:A	donor_gain	0.9900
16:71285940:C:CC	acceptor_gain	0.9800
16:71288882:CAG:C	donor_gain	0.9800
16:71288938:C:CC	acceptor_gain	0.9800
16:71289185:CT:C	donor_gain	0.9800
16:71289185:CTCT:C	donor_gain	0.9800
16:71289188:T:A	donor_gain	0.9800
16:71289403:AAGT:A	donor_gain	0.9800
16:71285938:ATC:A	acceptor_loss	0.9600
16:71285939:TCTAG:T	acceptor_loss	0.9600
16:71285940:CT:C	acceptor_loss	0.9600
16:71285941:T:A	acceptor_loss	0.9600
16:71289085:CCCG:C	donor_gain	0.9600
16:71289123:AGG:A	donor_gain	0.9600
16:71289230:C:A	donor_gain	0.9600
16:71289422:C:CA	donor_gain	0.9600
16:71289455:CG:C	donor_gain	0.9600
16:71289229:T:TA	donor_gain	0.9500
16:71285935:AAAAT:A	acceptor_gain	0.9400
16:71288872:TTTTA:T	donor_loss	0.9400
16:71288873:TTTA:T	donor_loss	0.9400
16:71288874:TTACC:T	donor_loss	0.9400
16:71288875:TACC:T	donor_loss	0.9400
16:71288876:ACCTC:A	donor_loss	0.9400
16:71288877:C:CT	donor_loss	0.9400
16:71288894:A:AC	donor_gain	0.9400

AlphaMissense

5169 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:71285090:A:C	F277L	0.999
16:71285090:A:T	F277L	0.999
16:71285092:A:G	F277L	0.999
16:71285668:A:G	W85R	0.999
16:71285668:A:T	W85R	0.999
16:71285221:C:G	A234P	0.998
16:71285003:G:C	S306R	0.997
16:71285003:G:T	S306R	0.997
16:71285005:T:G	S306R	0.997
16:71285015:T:A	K302N	0.997
16:71285015:T:G	K302N	0.997
16:71285096:C:A	K275N	0.997
16:71285096:C:G	K275N	0.997
16:71285462:A:C	S153R	0.997
16:71285462:A:T	S153R	0.997
16:71285464:T:G	S153R	0.997
16:71285578:A:G	W115R	0.997
16:71285578:A:T	W115R	0.997
16:71285666:C:A	W85C	0.997
16:71285666:C:G	W85C	0.997
16:71284991:G:C	N310K	0.996
16:71284991:G:T	N310K	0.996
16:71285017:T:C	K302E	0.996
16:71285180:T:A	Q247H	0.996
16:71285180:T:G	Q247H	0.996
16:71285210:A:C	S237R	0.996
16:71285210:A:T	S237R	0.996
16:71285212:T:G	S237R	0.996
16:71285217:T:A	D235V	0.995
16:71285323:A:G	W200R	0.995

dbSNP variants (sampled 300 via entrez): RS1000633521 (16:71282205 TTAAC>T), RS1001058701 (16:71281882 A>G), RS1001160979 (16:71281403 T>C), RS1001198519 (16:71287814 C>A), RS1001404197 (16:71281035 C>T), RS1001418433 (16:71281057 A>G), RS1001495842 (16:71288443 C>T), RS1001692041 (16:71287564 G>A), RS1002153025 (16:71289227 C>T), RS1002564083 (16:71291274 G>A), RS1002637979 (16:71282273 T>C), RS1002666204 (16:71282033 G>T), RS1002825304 (16:71288776 T>C), RS1003240167 (16:71283443 C>A), RS1003254482 (16:71290245 G>A,C)

Disease associations

OMIM: gene MIM:616190 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
melanoma	Limited	Autosomal dominant
lung cancer	Limited	Autosomal dominant

Mondo (2): melanoma (MONDO:0005105), lung cancer (MONDO:0008903)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007650_3	Postoperative survival time in hepatocellular carcinoma	1.000000e-17
GCST007731_4	Postoperative survival time in hepatocellular carcinoma	1.000000e-17
GCST012306_1	Bipolar disorder	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0000638	overall survival

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008545	Melanoma	C04.557.465.625.650.510; C04.557.580.625.650.510; C04.557.665.510; C04.588.805.377; C17.800.882.445

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	4
Air Pollutants	increases abundance, increases expression, decreases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
manganese chloride	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Formaldehyde	decreases expression	1
Manganese	increases abundance, increases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Oxyquinoline	decreases expression	1
Aflatoxin B1	affects expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00324272	PHASE4	COMPLETED	Post-Operative Drainage Following Lymph Node Dissection
NCT01053819	PHASE4	COMPLETED	Can We Miss Pigmented Lesions in Psoriasis Patients?
NCT01898585	PHASE4	COMPLETED	An Open-Label Study of Zelboraf (Vemurafenib) in Patients With Braf V600 Mutation Positive Metastatic Melanoma
NCT02068196	PHASE4	ACTIVE_NOT_RECRUITING	A National Phase IV Study With Ipilimumab for Patients With Advanced Malignant Melanoma.
NCT02451488	PHASE4	COMPLETED	Neoadjuvant Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF) in Cutaneous Stage L-lll Melanoma
NCT03313544	PHASE4	UNKNOWN	Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1
NCT03340506	PHASE4	RECRUITING	Dabrafenib and/or Trametinib Rollover Study
NCT03715205	PHASE4	COMPLETED	Study to Evaluate the Safety of Pembrolizumab in Participants With Unresectable or Metastatic Melanoma or Non-small Cell Lung Cancer in India (MK-3475-593/KEYNOTE-593)
NCT04261179	PHASE4	UNKNOWN	Study Comparing Lymphoseek® vs. Albumin Nanocolloid in Head and Neck, Melanoma and Breast Cancer
NCT05467137	PHASE4	UNKNOWN	Sentinel Lymph Node Detection in Patients With Stage Ib-III Melanoma Using MSOT and ICG
NCT06116461	PHASE4	UNKNOWN	Nivolumab Dose Optimization in Patients With a Complete, Partial or Stable Response
NCT06785974	PHASE4	NOT_YET_RECRUITING	Statins to Prevent Immune Checkpoint Inhibitor-induced PRogression of AtherosLerosis
NCT07004335	PHASE4	NOT_YET_RECRUITING	Efficacy and Safety of Iparomlimab and Tuvonralimab Injection in Combination With Bevacizumab After Progression on Anti-PD-(L)1 Therapy in Advanced Melanoma: A Prospective, Single-Arm, Exploratory Clinical Study
NCT07405086	PHASE4	RECRUITING	Morning Versus Afternoon Administration of Immunotherapy for the Treatment of Advanced or Metastatic Solid Tumors, The Knight SHIFT Study
NCT07445022	PHASE4	RECRUITING	RWS of Tunlametinib in NRAS-Mutant Advanced Melanoma
NCT07504796	PHASE4	RECRUITING	ctDNA-guided Addition of Ipilimumab to Patients Receiving Nivolumab and Relatlimab
NCT07574047	PHASE4	NOT_YET_RECRUITING	MELCHRONO: A Prospective Randomized Study Investigating Chrono-immunotherapy for Advanced Melanoma.
NCT00001296	PHASE3	COMPLETED	A Randomized Phase III Trial of Hyperthermic Isolated Limb Perfusion With Melphalan, Tumor Necrosis Factor, and Interferon-Gamma in Patients With Locally Advanced Extremity Melanoma
NCT00002455	PHASE3	UNKNOWN	Immunotherapy After Surgery in Treating Patients With Breast Cancer, Colon Cancer, or Melanoma
NCT00002763	PHASE3	UNKNOWN	High-Dose or Low-Dose Interferon Alfa Compared With No Further Therapy Following Surgery in Treating Patients With Stage III Melanoma
NCT00002767	PHASE3	UNKNOWN	Interferon Alfa With or Without Vaccine Therapy in Treating Patients With Metastatic Melanoma
NCT00002882	PHASE3	COMPLETED	Interferon Alfa With or Without Combination Chemotherapy Plus Interleukin-2 in Treating Patients With Melanoma
NCT00002892	PHASE3	COMPLETED	Interferon Alfa or No Further Therapy Following Surgery in Treating Patients With Stage II, Stage III, or Recurrent Melanoma
NCT00003027	PHASE3	COMPLETED	Combination Chemotherapy With or Without Interleukin-2 and Interferon Alfa in Treating Patients With Metastatic Melanoma
NCT00003444	PHASE3	COMPLETED	Interferon Alfa-2b With or Without Radiation Therapy in Treating Patients With Melanoma That Has Metastasized to Lymph Nodes in the Neck, Under the Arm, or in the Groin
NCT00003641	PHASE3	ACTIVE_NOT_RECRUITING	High-Dose Interferon Alfa in Treating Patients With Stage II or Stage III Melanoma
NCT00003647	PHASE3	COMPLETED	Chemotherapy With or Without Immunotherapy in Treating Patients With Stage III or Stage IV Melanoma
NCT00003789	PHASE3	COMPLETED	Melphalan With or Without Tumor Necrosis Factor in Treating Patients With Locally Advanced Melanoma of the Arm or Leg
NCT00004196	PHASE3	COMPLETED	Interferon Alfa-2b in Treating Patients With Melanoma and Early Lymph Node Metastasis
NCT00005052	PHASE3	UNKNOWN	Vaccine Therapy in Treating Patients With Primary Stage II Melanoma
NCT00006237	PHASE3	COMPLETED	S0008: Chemotherapy Plus Biological Therapy in Treating Patients With Melanoma
NCT00006249	PHASE3	UNKNOWN	Interferon Alfa Following Surgery in Treating Patients With Stage III Melanoma
NCT00016263	PHASE3	COMPLETED	Dacarbazine With or Without Oblimersen (G3139) in Treating Patients With Advanced Malignant Melanoma
NCT00019682	PHASE3	COMPLETED	Aldesleukin With or Without Vaccine Therapy in Treating Patients With Locally Advanced or Metastatic Melanoma
NCT00020839	PHASE3	TERMINATED	Temozolomide With or Without Radiation Therapy to the Brain in Treating Patients With Stage IV Melanoma That Is Metastatic to the Brain
NCT00039000	PHASE3	COMPLETED	Study of Heat Shock Protein-Peptide Complex (HSPPC-96) Versus IL-2/DTIC for Stage IV Melanoma
NCT00039234	PHASE3	UNKNOWN	Interleukin-2 With or Without Histamine Dihydrochloride in Treating Patients With Stage IV Melanoma Metastatic to the Liver
NCT00052130	PHASE3	UNKNOWN	Vaccine Therapy for Patients With Stage III Melanoma
NCT00052156	PHASE3	UNKNOWN	Vaccine Therapy for Patients With Stage IV Melanoma
NCT00057616	PHASE3	COMPLETED	Study to Compare the Efficacy and Safety of CC-5013 vs. Placebo in Subjects With Metastatic Malignant Melanoma.