CMTR1

Summary

CMTR1 (cap methyltransferase 1, HGNC:21077) is a protein-coding gene on chromosome 6p21.2, encoding Cap-specific mRNA (nucleoside-2’-O-)-methyltransferase 1 (Q8N1G2). S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2’-O-ribose methylation to the 5’-cap structure of mRNAs. It is a common-essential gene (DepMap: required in 93.4% of cancer cell lines).

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

Source: NCBI Gene 23070 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 74 total
• Cancer dependency (DepMap): dependent in 93.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_015050

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21077
Approved symbol	CMTR1
Name	cap methyltransferase 1
Location	6p21.2
Locus type	gene with protein product
Status	Approved
Aliases	MTr1, ISG95
Ensembl gene	ENSG00000137200
Ensembl biotype	protein_coding
OMIM	616189
Entrez	23070

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000373451, ENST00000455891, ENST00000457419, ENST00000471097, ENST00000475364, ENST00000493656, ENST00000857630, ENST00000857631, ENST00000857632, ENST00000857633, ENST00000857634, ENST00000857635, ENST00000857636, ENST00000857637, ENST00000857638, ENST00000915985, ENST00000915986, ENST00000949610

RefSeq mRNA: 1 — MANE Select: NM_015050 NM_015050

CCDS: CCDS4835

Canonical transcript exons

ENST00000373451 — 24 exons

Exon	Start	End
ENSE00002240993	37446291	37446449
ENSE00002250486	37443999	37444150
ENSE00002254055	37475321	37475412
ENSE00002263014	37480013	37481508
ENSE00002272837	37451806	37451877
ENSE00002273715	37459566	37459684
ENSE00002276241	37458612	37458810
ENSE00002282774	37462829	37463008
ENSE00002286349	37479147	37479255
ENSE00002293786	37474524	37474646
ENSE00002294016	37461549	37461645
ENSE00002306841	37461970	37462102
ENSE00002319168	37450251	37450343
ENSE00002455188	37472419	37472487
ENSE00002470141	37473470	37473601
ENSE00003269858	37471021	37471077
ENSE00003343615	37471847	37471904
ENSE00003348074	37453047	37453141
ENSE00003425284	37453240	37453312
ENSE00003595103	37477592	37477639
ENSE00003603316	37435624	37435762
ENSE00003624730	37478409	37478521
ENSE00003684945	37476126	37476194
ENSE00003846122	37433221	37433377

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 97.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7080 / max 274.0880, expressed in 1820 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67634	22.3084	1819
67636	1.3962	750
67635	1.1069	744
67637	0.7730	314
67638	0.1234	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	97.53	gold quality
left testis	UBERON:0004533	97.46	gold quality
testis	UBERON:0000473	95.49	gold quality
granulocyte	CL:0000094	94.22	gold quality
secondary oocyte	CL:0000655	93.94	gold quality
apex of heart	UBERON:0002098	93.44	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.31	gold quality
right ovary	UBERON:0002118	92.91	gold quality
left ovary	UBERON:0002119	92.76	gold quality
cerebellar hemisphere	UBERON:0002245	92.57	gold quality
cerebellar cortex	UBERON:0002129	92.52	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.20	gold quality
body of uterus	UBERON:0009853	92.04	gold quality
adenohypophysis	UBERON:0002196	91.86	gold quality
pituitary gland	UBERON:0000007	91.83	gold quality
cerebellum	UBERON:0002037	91.70	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.60	gold quality
spleen	UBERON:0002106	91.57	gold quality
lower esophagus	UBERON:0013473	91.57	gold quality
right uterine tube	UBERON:0001302	91.56	gold quality
oocyte	CL:0000023	91.49	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.43	gold quality
mucosa of stomach	UBERON:0001199	91.31	gold quality
skin of leg	UBERON:0001511	91.26	gold quality
right atrium auricular region	UBERON:0006631	91.24	gold quality
tibial nerve	UBERON:0001323	91.17	gold quality
right frontal lobe	UBERON:0002810	91.11	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.09	gold quality
left uterine tube	UBERON:0001303	91.07	gold quality
body of stomach	UBERON:0001161	91.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.35

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

85 targeting CMTR1, 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-1252-5P	100.00	69.80	2774
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4696	99.48	67.48	1040

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 93.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 9)

• The results presented in this work indicate that ISG95 is part of the interferon response pathway and functions in the pre-mRNA processing events mediated by the C-terminal domain of the RNA polymerase II. (PMID:18533109)
• hMTr1 catalyzes specific methylation of the 2’-O-ribose of the first nucleotide of a capped RNA transcript. (PMID:20713356)
• Crystal structures of the active CMTr1 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)
• Regulation and function of CMTR1-dependent mRNA cap methylation. (PMID:28971629)
• The data presented here are consistent with the important role played by hMTr1 in pre-mRNA synthesis. (PMID:30320910)
• CMTr1 binds ATP-dependent RNA DHX15 helicase and that this interaction, mediated by the G-patch domain of CMTr1, has an advantageous effect on CMTr1 activity towards highly structured RNA substrates. (PMID:30397098)
• The mRNA Cap 2’-O-Methyltransferase CMTR1 Regulates the Expression of Certain Interferon-Stimulated Genes. (PMID:32404510)
• CMTR1 promotes colorectal cancer cell growth and immune evasion by transcriptionally regulating STAT3. (PMID:37024465)
• CK2 phosphorylation of CMTR1 promotes RNA cap formation and influenza virus infection. (PMID:38923463)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cmtr1	ENSDARG00000030830
mus_musculus	Cmtr1	ENSMUSG00000024019
rattus_norvegicus	Cmtr1	ENSRNOG00000000532
drosophila_melanogaster	Cmtr1	FBGN0029693
caenorhabditis_elegans		WBGENE00013160

Paralogs (1): CMTR2 (ENSG00000180917)

Protein

Protein identifiers

Cap-specific mRNA (nucleoside-2’-O-)-methyltransferase 1 — Q8N1G2 (reviewed: Q8N1G2)

Alternative names: Cap methyltransferase 1, Cap1 2’O-ribose methyltransferase 1, FtsJ methyltransferase domain-containing protein 2, Interferon-stimulated gene 95 kDa protein

All UniProt accessions (4): Q8N1G2, H0Y4T0, H0YCQ1, Q5T7F5

UniProt curated annotations — full annotation on UniProt →

Function. S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2’-O-ribose methylation to the 5’-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway.

Subunit / interactions. Interacts with POLR2A (via C-terminus).

Subcellular location. Nucleus.

Induction. By interferons alpha and beta, and by Vaccinia virus infection.

RefSeq proteins (1): NP_055865* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000467	G_patch_dom	Domain
IPR001202	WW_dom	Domain
IPR002877	RNA_MeTrfase_FtsJ_dom	Domain
IPR025816	RrmJ-type_MeTrfase	Domain
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily
IPR050851	mRNA_Cap_2O-Ribose_MeTrfase	Family

Pfam: PF01585, PF01728

Enzyme classification (BRENDA):

• EC 2.1.1.57 — methyltransferase cap1 (BRENDA: 16 organisms, 54 substrates, 63 inhibitors, 14 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
S-ADENOSYL-L-METHIONINE	0.0006–0.19	4
M7GPPPA-RNA	—	2
7ME-GPPPA-C5	0.0004	1
BROME MOSAIC VIRUS RNA	—	1
G(5’)PPPA-POLY(A)	—	1
M7G(5’)PPPA-POLY(A)	—	1
M7G(5’)PPPG-RNA	1.8	1

Catalyzed reactions (Rhea), 1 shown:

• a 5’-end (N(7)-methyl 5’-triphosphoguanosine)-ribonucleoside in mRNA + S-adenosyl-L-methionine = a 5’-end (N(7)-methyl 5’-triphosphoguanosine)-(2’-O-methyl-ribonucleoside) in mRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:67020)

UniProt features (70 total): helix 19, strand 13, binding site 7, turn 7, modified residue 6, mutagenesis site 5, domain 3, active site 3, region of interest 2, compositionally biased region 2, chain 1, sequence conflict 1, short sequence motif 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
4N49	X-RAY DIFFRACTION	1.9
4N4A	X-RAY DIFFRACTION	2.35
4N48	X-RAY DIFFRACTION	2.7
8P4E	ELECTRON MICROSCOPY	3.9
8P4F	ELECTRON MICROSCOPY	4
8W8F	ELECTRON MICROSCOPY	4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N1G2-F1	86.97	0.73

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): 364; 404 (proton acceptor); 239

Ligand- & substrate-binding residues (7): 203–207; 218; 234; 277–283; 335–336; 374–376; 439

Post-translational modifications (6): 28, 31, 53, 66, 91, 108

Mutagenesis-validated functional residues (5):

Position	Phenotype
203	reduces both mrna cap binding and catalytic activity of the enzyme.
228	no effect.
239	abolishes catalytic activity.
364	abolishes catalytic activity.
404	abolishes catalytic activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 239 (showing top): IVANOVA_HEMATOPOIESIS_MATURE_CELL, CREB_Q4, MARTINEZ_RB1_TARGETS_UP, IRF7_01, GOBP_RNA_CAPPING, IRF_Q6, SCHLOSSER_SERUM_RESPONSE_DN, DOUGLAS_BMI1_TARGETS_DN, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOBP_METHYLATION, AP2GAMMA_01, GCM_BECN1, CREBP1CJUN_01, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN

GO Biological Process (5): 7-methylguanosine mRNA capping (GO:0006370), mRNA processing (GO:0006397), methylation (GO:0032259), RNA processing (GO:0006396), mRNA modification (GO:0016556)

GO Molecular Function (7): nucleic acid binding (GO:0003676), methyltransferase cap1 activity (GO:0004483), protein binding (GO:0005515), methyltransferase activity (GO:0008168), RNA methyltransferase activity (GO:0008173), S-adenosylmethionine-dependent methyltransferase activity (GO:0008757), transferase activity (GO:0016740)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

2030 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CMTR1	RNGTT	O60942	747
CMTR1	RNMT	O43148	704
CMTR1	VMA22	Q96NT0	522
CMTR1	RAMAC	Q9BTL3	509
CMTR1	TTC39A	Q5SRH9	478
CMTR1	TRMT44	Q8IYL2	478
CMTR1	PPM1B	O75688	469
CMTR1	NCAPH	Q15003	463
CMTR1	ORC6	Q9Y5N6	457
CMTR1	FTSJ1	Q9UET6	447
CMTR1	MRM2	Q9UI43	446
CMTR1	CCDC92	Q53HC0	442
CMTR1	NEK2	P51955	421
CMTR1	RBM18	Q96H35	420
CMTR1	PKMYT1	Q99640	417
CMTR1	MTHFD2	P13995	417

IntAct

44 interactions, top by confidence:

A	B	Type	Score
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
LIG3	XRCC1	psi-mi:“MI:0914”(association)	0.740
WASF3	HOXB9	psi-mi:“MI:0914”(association)	0.530
IFNA8	UBR3	psi-mi:“MI:0914”(association)	0.530
IFNA13	IFNA14	psi-mi:“MI:0914”(association)	0.530
VAPA		psi-mi:“MI:0914”(association)	0.350
TCF4	OGT	psi-mi:“MI:0914”(association)	0.350
	PABPC4	psi-mi:“MI:0914”(association)	0.350
DHX15	BBX	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
GTF2E2	UBA6	psi-mi:“MI:0914”(association)	0.350
SPATA1	ANKHD1	psi-mi:“MI:0914”(association)	0.350
TMCC2	MARK3	psi-mi:“MI:0914”(association)	0.350
SP100	SART1	psi-mi:“MI:0914”(association)	0.350
rep	TK2	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
CCDC71	SUPT5H	psi-mi:“MI:0914”(association)	0.350
HNRNPCL2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
MMTAG2	HEXIM1	psi-mi:“MI:0914”(association)	0.350
TMCC2	RPS4Y1	psi-mi:“MI:0914”(association)	0.350
PLAGL2	CRABP2	psi-mi:“MI:0914”(association)	0.350
TSC22D3	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
ZDHHC6	A2ML1	psi-mi:“MI:0914”(association)	0.350
CREB3L3	AP3B1	psi-mi:“MI:0914”(association)	0.350
FAM133A	DNM1L	psi-mi:“MI:0914”(association)	0.350
EPB41L5	LIN7A	psi-mi:“MI:0914”(association)	0.350

BioGRID (240): CMTR1 (Affinity Capture-MS), IARS (Co-fractionation), RNF20 (Co-fractionation), RNF40 (Co-fractionation), SETD3 (Co-fractionation), CMTR1 (Affinity Capture-MS), CMTR1 (Proximity Label-MS), CMTR1 (Affinity Capture-MS), CMTR1 (Affinity Capture-MS), CMTR1 (Affinity Capture-MS), CMTR1 (Affinity Capture-MS), CMTR1 (Affinity Capture-MS), CMTR1 (Affinity Capture-MS), CMTR1 (Affinity Capture-MS), CMTR1 (Affinity Capture-MS)

ESM2 similar proteins: A0AUR5, A0JNG7, A2VE39, A5PKL6, A8MYZ0, B0BM95, B0V3H4, B5DG51, D2HRF1, O02697, P48736, P60670, Q0IIH8, Q4KLT3, Q4R4D7, Q4R528, Q4R6Y8, Q4R760, Q4V8W7, Q5R981, Q5RBW9, Q5RL51, Q5U2Z5, Q5XH30, Q68EP9, Q6NX27, Q7ZYP6, Q803A6, Q803R5, Q80V94, Q811C2, Q8CD92, Q8CDM8, Q8K4M9, Q8N1G2, Q8NEC7, Q8R3N6, Q8TAT6, Q8VDY4, Q91WR3

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, Q5UQ71, A1XD93, A1XD94, A1XD95, A1XD97, A4UMC5, A4UMC6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3679 predictions. Top by Δscore:

Variant	Effect	Δscore
6:37433376:GC:G	donor_gain	1.0000
6:37433378:G:GG	donor_gain	1.0000
6:37435622:A:AG	acceptor_gain	1.0000
6:37435623:G:GG	acceptor_gain	1.0000
6:37443996:CA:C	acceptor_loss	1.0000
6:37443997:A:AG	acceptor_gain	1.0000
6:37443997:AGCAT:A	acceptor_loss	1.0000
6:37443998:G:GG	acceptor_gain	1.0000
6:37443998:GC:G	acceptor_gain	1.0000
6:37443998:GCA:G	acceptor_gain	1.0000
6:37443998:GCAT:G	acceptor_gain	1.0000
6:37443998:GCATC:G	acceptor_gain	1.0000
6:37444097:G:GT	donor_gain	1.0000
6:37444101:G:GT	donor_gain	1.0000
6:37444149:TGG:T	donor_loss	1.0000
6:37444152:T:A	donor_loss	1.0000
6:37446287:TCA:T	acceptor_loss	1.0000
6:37446289:A:AG	acceptor_gain	1.0000
6:37446289:A:C	acceptor_loss	1.0000
6:37446289:AG:A	acceptor_gain	1.0000
6:37446290:G:A	acceptor_loss	1.0000
6:37446290:G:GT	acceptor_gain	1.0000
6:37446290:GG:G	acceptor_gain	1.0000
6:37446290:GGC:G	acceptor_gain	1.0000
6:37446290:GGCC:G	acceptor_gain	1.0000
6:37446290:GGCCA:G	acceptor_gain	1.0000
6:37446447:GAG:G	donor_gain	1.0000
6:37446448:AGG:A	donor_loss	1.0000
6:37446450:G:GG	donor_gain	1.0000
6:37446450:GTA:G	donor_loss	1.0000

AlphaMissense

5568 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:37453141:G:T	R235M	1.000
6:37458663:T:C	C277R	1.000
6:37458664:G:A	C277Y	1.000
6:37458665:C:G	C277W	1.000
6:37458670:G:A	G279D	1.000
6:37458676:G:A	G281D	1.000
6:37458729:G:A	G299R	1.000
6:37458729:G:C	G299R	1.000
6:37458730:G:A	G299E	1.000
6:37458756:T:C	F308L	1.000
6:37458758:C:A	F308L	1.000
6:37458758:C:G	F308L	1.000
6:37459589:G:A	G334R	1.000
6:37459589:G:C	G334R	1.000
6:37459590:G:A	G334E	1.000
6:37459590:G:T	G334V	1.000
6:37459635:T:A	V349D	1.000
6:37459676:G:C	A363P	1.000
6:37459680:A:T	D364V	1.000
6:37459683:G:A	G365E	1.000
6:37461988:A:T	K404I	1.000
6:37461993:T:C	F406L	1.000
6:37461995:T:A	F406L	1.000
6:37461995:T:G	F406L	1.000
6:37474566:T:A	W622R	1.000
6:37474566:T:C	W622R	1.000
6:37446322:T:C	L106S	0.999
6:37453103:T:A	N222K	0.999
6:37453103:T:G	N222K	0.999
6:37453132:T:C	F232S	0.999

dbSNP variants (sampled 300 via entrez): RS1000029913 (6:37439588 T>C), RS1000057560 (6:37445712 C>G), RS1000116659 (6:37452332 A>C,G), RS1000185325 (6:37439810 T>C,G), RS1000203790 (6:37471565 G>A), RS1000226054 (6:37428026 G>C), RS1000258591 (6:37478757 A>G), RS1000263384 (6:37478005 C>G,T), RS1000299595 (6:37427912 T>C), RS1000330793 (6:37465651 A>C), RS1000350977 (6:37472199 C>A), RS1000358740 (6:37426645 C>A), RS1000425486 (6:37465216 G>A), RS1000459674 (6:37447236 T>C), RS1000473527 (6:37426960 CTG>C)

Disease associations

OMIM: gene MIM:616189 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002481_11	Acne (severe)	2.000000e-06
GCST002875_4	Diisocyanate-induced asthma	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, decreases expression	2
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
coumarin	affects phosphorylation	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Diazinon	increases methylation	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Testosterone	decreases expression	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
Vitamin E	increases expression	1
Aflatoxin B1	increases methylation	1
Acrylamide	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1U1	HAP1 CMTR1 (-) 3	Cancer cell line	Male
CVCL_SJ33	HAP1 CMTR1 (-) 1	Cancer cell line	Male
CVCL_SJ34	HAP1 CMTR1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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