DIMT1

Summary

DIMT1 (DIM1 rRNA methyltransferase and ribosome maturation factor, HGNC:30217) is a protein-coding gene on chromosome 5q12.1, encoding Dimethyladenosine transferase (Q9UNQ2). Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3’-end of 18S rRNA in the 40S particle. It is a common-essential gene (DepMap: required in 94.1% of cancer cell lines).

The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus.

Source: NCBI Gene 27292 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 72 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 94.1% of screened cell lines (common-essential)
• MANE Select transcript: NM_014473

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30217
Approved symbol	DIMT1
Name	DIM1 rRNA methyltransferase and ribosome maturation factor
Location	5q12.1
Locus type	gene with protein product
Status	Approved
Aliases	HSA9761
Ensembl gene	ENSG00000086189
Ensembl biotype	protein_coding
OMIM	612499
Entrez	27292

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 13 protein_coding, 7 retained_intron, 5 nonsense_mediated_decay

ENST00000199320, ENST00000506390, ENST00000509182, ENST00000514605, ENST00000514911, ENST00000651114, ENST00000679751, ENST00000680062, ENST00000680214, ENST00000680267, ENST00000680785, ENST00000680836, ENST00000680960, ENST00000681192, ENST00000681244, ENST00000681272, ENST00000681393, ENST00000681672, ENST00000879667, ENST00000879668, ENST00000879669, ENST00000879670, ENST00000928006, ENST00000945265, ENST00000945266

RefSeq mRNA: 3 — MANE Select: NM_014473 NM_001348076, NM_001348077, NM_014473

CCDS: CCDS3981, CCDS87298

Canonical transcript exons

ENST00000199320 — 12 exons

Exon	Start	End
ENSE00000837020	62387254	62389052
ENSE00000837024	62392171	62392234
ENSE00001746643	62390876	62390982
ENSE00003503018	62392926	62392990
ENSE00003518955	62398820	62398881
ENSE00003527483	62393955	62394047
ENSE00003538624	62398511	62398560
ENSE00003619516	62402036	62402122
ENSE00003631961	62403273	62403346
ENSE00003639392	62394484	62394607
ENSE00003685500	62398646	62398739
ENSE00003846622	62403694	62403905

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 94.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.5197 / max 110.7990, expressed in 1809 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61924	16.7602	1806
61923	0.4733	261
61922	0.2862	111

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	94.23	gold quality
parotid gland	UBERON:0001831	94.19	gold quality
gingival epithelium	UBERON:0001949	94.04	gold quality
gingiva	UBERON:0001828	93.38	gold quality
tongue squamous epithelium	UBERON:0006919	93.35	gold quality
cartilage tissue	UBERON:0002418	93.02	gold quality
skin of hip	UBERON:0001554	92.92	gold quality
heart right ventricle	UBERON:0002080	92.92	gold quality
tibia	UBERON:0000979	92.80	gold quality
oviduct epithelium	UBERON:0004804	92.65	gold quality
squamous epithelium	UBERON:0006914	92.46	gold quality
globus pallidus	UBERON:0001875	92.36	gold quality
endothelial cell	CL:0000115	92.28	gold quality
vena cava	UBERON:0004087	92.27	gold quality
cauda epididymis	UBERON:0004360	92.15	gold quality
cervix squamous epithelium	UBERON:0006922	92.10	silver quality
pericardium	UBERON:0002407	92.07	gold quality
blood vessel layer	UBERON:0004797	91.80	gold quality
sperm	CL:0000019	91.73	gold quality
right coronary artery	UBERON:0001625	91.52	gold quality
epithelium of mammary gland	UBERON:0003244	91.50	gold quality
saphenous vein	UBERON:0007318	91.49	gold quality
buccal mucosa cell	CL:0002336	91.43	gold quality
esophagus squamous epithelium	UBERON:0006920	91.33	gold quality
endometrium	UBERON:0001295	91.29	gold quality
palpebral conjunctiva	UBERON:0001812	90.97	gold quality
parietal pleura	UBERON:0002400	90.93	gold quality
mammary duct	UBERON:0001765	90.84	gold quality
secondary oocyte	CL:0000655	90.71	gold quality
epithelium of esophagus	UBERON:0001976	90.65	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	8.64
E-ANND-3	yes	7.41

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

61 targeting DIMT1, 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-190A-3P	100.00	80.35	5520
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-144-3P	99.94	73.98	2698
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-5680	99.91	69.83	3421
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 94.1% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• Epigenetic silencing of miR-210 increases the proliferation of gastric epithelium during chronic Helicobacter pylori infection by activating STMN1 and DIMT1. (PMID:25187177)
• DIMT1L and WBSCR22-TRMT112 are required for distinct pre-rRNA processing reactions leading to synthesis of 18S rRNA. Ribosome biogenesis requires the presence of the modification enzyme rather than its RNA-modifying catalytic activity. (PMID:25851604)
• Studies show that miroRNA miR-210 acts as a tumor suppressor in hypoxic conditions by downregulating the 18S rRNA base methyltransferase (DIMT1)-interferon regulatory factor 4 (IRF4) axis. (PMID:28164410)
• DIMT1 is overexpressed in gastric carcinoma and is significantly correlated with poor prognosis. (PMID:28601661)
• Structural and catalytic roles of the human 18S rRNA methyltransferases DIMT1 in ribosome assembly and translation. (PMID:32616653)
• Human DIMT1 generates N2(6,6)A-dimethylation-containing small RNAs. (PMID:34473991)
• Ribosomal biogenesis regulator DIMT1 controls beta-cell protein synthesis, mitochondrial function, and insulin secretion. (PMID:35148993)
• Noncatalytic regulation of 18S rRNA methyltransferase DIMT1 in acute myeloid leukemia. (PMID:37024283)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dimt1l	ENSDARG00000005057
mus_musculus	Dimt1	ENSMUSG00000021692
rattus_norvegicus	Dimt1	ENSRNOG00000013596
drosophila_melanogaster	CG11837	FBGN0039627

Paralogs (2): TFB1M (ENSG00000029639), TFB2M (ENSG00000162851)

Protein

Protein identifiers

Dimethyladenosine transferase — Q9UNQ2 (reviewed: Q9UNQ2)

Alternative names: 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase, 18S rRNA dimethylase, DIM1 dimethyladenosine transferase 1 homolog, DIM1 dimethyladenosine transferase 1-like, S-adenosylmethionine-6-N’,N’-adenosyl(rRNA) dimethyltransferase

All UniProt accessions (10): Q9UNQ2, A0A0C4DGB1, A0A494C0G7, A0A7P0T8X7, A0A7P0T967, A0A7P0T9J1, A0A7P0T9Y7, A0A7P0Z4I0, B4DRY2, D6RCL3

UniProt curated annotations — full annotation on UniProt →

Function. Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3’-end of 18S rRNA in the 40S particle. Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.

Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.

Subcellular location. Nucleus. Nucleoplasm. Nucleolus.

Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family.

RefSeq proteins (3): NP_001335005, NP_001335006, NP_055288* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001737	KsgA/Erm	Family
IPR011530	rRNA_adenine_dimethylase	Family
IPR020596	rRNA_Ade_Mease_Trfase_CS	Conserved_site
IPR020598	rRNA_Ade_methylase_Trfase_N	Domain
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily

Pfam: PF00398

Catalyzed reactions (Rhea), 1 shown:

• adenosine(1779)/adenosine(1780) in 18S rRNA + 4 S-adenosyl-L-methionine = N(6)-dimethyladenosine(1779)/N(6)-dimethyladenosine(1780) in 18S rRNA + 4 S-adenosyl-L-homocysteine + 4 H(+) (RHEA:42780)

UniProt features (37 total): helix 15, strand 8, binding site 6, sequence conflict 3, turn 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
1ZQ9	X-RAY DIFFRACTION	1.9
6W6C	X-RAY DIFFRACTION	2.38
7MQA	ELECTRON MICROSCOPY	2.7
6W6F	X-RAY DIFFRACTION	3.2
7WTS	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UNQ2-F1	92.15	0.88

Functional residue map

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

Ligand- & substrate-binding residues (6): 37; 39; 64; 85; 113; 128

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6790901	rRNA modification in the nucleus and cytosol

MSigDB gene sets: 181 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_RIBOSOME_BIOGENESIS, MORF_MSH3, MORF_BRCA1, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_RNA_METHYLATION, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_RNA_MODIFICATION, MORF_PPP5C, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GNF2_FBL

GO Biological Process (6): rRNA methylation (GO:0031167), ribosomal small subunit biogenesis (GO:0042274), positive regulation of rRNA processing (GO:2000234), rRNA modification (GO:0000154), rRNA processing (GO:0006364), methylation (GO:0032259)

GO Molecular Function (5): rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179), RNA binding (GO:0003723), 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (5): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), small-subunit processome (GO:0032040), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
rRNA processing in the nucleus and cytosol	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribosome biogenesis	2
rRNA processing	2
nuclear lumen	2
cellular anatomical structure	2
rRNA modification	1
RNA methylation	1
ribonucleoprotein complex biogenesis	1
positive regulation of RNA metabolic process	1
regulation of rRNA processing	1
RNA modification	1
RNA processing	1
rRNA metabolic process	1
metabolic process	1
N-methyltransferase activity	1
rRNA (adenine) methyltransferase activity	1
nucleic acid binding	1
rRNA (adenine-N6,N6-)-dimethyltransferase activity	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
intracellular membraneless organelle	1
cytoplasm	1
nucleolus	1
preribosome	1
t-UTP complex	1
nuclear protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

3575 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DIMT1	BUD23	O43709	551
DIMT1	METTL16	Q86W50	549
DIMT1	METTL15	A6NJ78	547
DIMT1	ZCCHC4	Q9H5U6	542
DIMT1	METTL5	Q9NRN9	537
DIMT1	TSR1	Q2NL82	532
DIMT1	TRMT13	Q9NUP7	507
DIMT1	TRMT112	Q9UI30	499
DIMT1	BYSL	Q13895	490
DIMT1	FCF1	Q9Y324	474
DIMT1	NOB1	Q9ULX3	448
DIMT1	MOB2	Q70IA6	446
DIMT1	NSA2	O95478	444
DIMT1	METTL1	Q9UBP6	437
DIMT1	MAP1LC3B2	A6NCE7	433

IntAct

87 interactions, top by confidence:

A	B	Type	Score
MED29	MED19	psi-mi:“MI:0914”(association)	0.890
N	HNRNPR	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
	SCO2	psi-mi:“MI:0915”(physical association)	0.400
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
Eif3e	RPSA	psi-mi:“MI:0914”(association)	0.350
ORC1	ZNF768	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
MYC	ILVBL	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
NUDCD1	APOBEC3B	psi-mi:“MI:0914”(association)	0.350
L1TD1	MYO1C	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
IRF7	POLR2B	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
USP42	KPNA3	psi-mi:“MI:0914”(association)	0.350
FGFR1	POLRMT	psi-mi:“MI:0914”(association)	0.350
SMYD2	HSPA4L	psi-mi:“MI:0914”(association)	0.350
rep	POLRMT	psi-mi:“MI:0914”(association)	0.350
SRPK1	SNRPGP15	psi-mi:“MI:0914”(association)	0.350

BioGRID (233): DIMT1 (Affinity Capture-MS), DIMT1 (Affinity Capture-MS), DIMT1 (Affinity Capture-MS), DIMT1 (Affinity Capture-MS), DDX52 (Co-fractionation), DDX55 (Co-fractionation), DIMT1 (Co-fractionation), DIMT1 (Co-fractionation), DKC1 (Co-fractionation), GRWD1 (Co-fractionation), RPS11 (Co-fractionation), DIMT1 (Affinity Capture-MS), DIMT1 (Affinity Capture-MS), DIMT1 (Affinity Capture-MS), DIMT1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S4A695, A2X6S3, A4FV08, A4IHW6, O70133, O73723, O88958, P32392, P42528, P46926, P48454, P53490, P70704, P78712, Q14410, Q17QL1, Q1W376, Q1W377, Q259G4, Q28141, Q2KHT8, Q3MHC2, Q503E1, Q5R8T8, Q5VST6, Q5ZJ01, Q61WW9, Q641P0, Q64422, Q68FK8, Q6DCC5, Q6DEY3, Q6K908, Q6PA43, Q7XPW5, Q7ZVZ7, Q801P7, Q84M92, Q8LPJ4, Q8TDQ7

Diamond homologs: A0R8B4, A4FY32, A4IJB8, A5D673, A5IME8, A5VI09, A6TJK9, A6UP00, A6UTZ1, A6VFS2, A7FQA9, A7G9I5, A7GJV3, A8F909, A8MK56, A9AAW1, A9VN54, B0R506, B1ID54, B1KRY8, B1LBH5, B1N079, B2G5I8, B3QMU5, B6YTK7, B7GFH0, B7HIK9, B7HPV2, B7ISV1, B7JK47, B8D0I2, B9IZC4, C1ESX0, C1FQ40, C3KXY4, C3LJ13, C3P9I6, C5A594, C5D363, C6A222

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 116 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
Eukaryotic Translation Initiation	6	21.3×	7e-06
Cap-dependent Translation Initiation	6	21.3×	7e-06
SARS-CoV-1 modulates host translation machinery	6	21.3×	7e-06
Eukaryotic Translation Elongation	6	19.2×	1e-05
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	6	18.8×	1e-05
rRNA processing in the nucleus and cytosol	10	18.5×	2e-08
Influenza Viral RNA Transcription and Replication	7	17.3×	4e-06
Formation of the ternary complex, and subsequently, the 43S complex	7	17.3×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	5	32.4×	6e-05
cytoplasmic translation	12	21.4×	2e-10
ribosomal small subunit biogenesis	7	15.3×	6e-05
rRNA processing	8	10.9×	8e-05
translation	10	9.9×	2e-05
mRNA splicing, via spliceosome	8	7.0×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3382 predictions. Top by Δscore:

Variant	Effect	Δscore
5:62348046:A:AG	acceptor_gain	1.0000
5:62348047:G:GG	acceptor_gain	1.0000
5:62348166:AGGT:A	donor_loss	1.0000
5:62348167:GG:G	donor_loss	1.0000
5:62348169:T:A	donor_loss	1.0000
5:62350061:CATA:C	acceptor_loss	1.0000
5:62350062:ATAG:A	acceptor_loss	1.0000
5:62350063:T:G	acceptor_gain	1.0000
5:62350063:TAG:T	acceptor_loss	1.0000
5:62350064:A:AC	acceptor_loss	1.0000
5:62350064:A:AG	acceptor_gain	1.0000
5:62350065:G:GC	acceptor_gain	1.0000
5:62350065:GA:G	acceptor_gain	1.0000
5:62350065:GAATC:G	acceptor_gain	1.0000
5:62350118:GAGG:G	donor_loss	1.0000
5:62350119:AGGTA:A	donor_loss	1.0000
5:62350120:GGTA:G	donor_loss	1.0000
5:62350121:G:GC	donor_loss	1.0000
5:62350122:T:A	donor_loss	1.0000
5:62352586:A:AG	acceptor_gain	1.0000
5:62352586:AGT:A	acceptor_gain	1.0000
5:62352586:AGTG:A	acceptor_gain	1.0000
5:62352587:G:GC	acceptor_gain	1.0000
5:62352587:GTG:G	acceptor_gain	1.0000
5:62352587:GTGG:G	acceptor_gain	1.0000
5:62352695:G:GT	donor_gain	1.0000
5:62352696:A:T	donor_gain	1.0000
5:62352707:CCTT:C	donor_gain	1.0000
5:62352711:G:GG	donor_gain	1.0000
5:62352715:G:GG	donor_gain	1.0000

AlphaMissense

2059 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:62392987:A:G	W223R	1.000
5:62392987:A:T	W223R	1.000
5:62394001:A:T	V206D	1.000
5:62394030:G:C	F196L	1.000
5:62394030:G:T	F196L	1.000
5:62394031:A:G	F196S	1.000
5:62394032:A:G	F196L	1.000
5:62394566:A:G	L163P	1.000
5:62394577:A:C	F159L	1.000
5:62394577:A:T	F159L	1.000
5:62394579:A:G	F159L	1.000
5:62402073:C:T	G68D	1.000
5:62393992:A:T	I209K	0.999
5:62393998:A:T	V207E	0.999
5:62394007:G:A	S204F	0.999
5:62394008:A:G	S204P	0.999
5:62394019:G:T	P200H	0.999
5:62394031:A:C	F196C	0.999
5:62394032:A:C	F196V	0.999
5:62394506:G:T	A183E	0.999
5:62394507:C:G	A183P	0.999
5:62394530:A:T	L175H	0.999
5:62394533:C:G	R174T	0.999
5:62394575:G:T	A160D	0.999
5:62394578:A:C	F159C	0.999
5:62394578:A:G	F159S	0.999
5:62394586:T:A	Q156H	0.999
5:62394586:T:G	Q156H	0.999
5:62394602:G:T	A151D	0.999
5:62398535:A:G	L141P	0.999

dbSNP variants (sampled 300 via entrez): RS1000035100 (5:62403531 G>A,C), RS1000075258 (5:62396618 G>T), RS1000420375 (5:62399742 T>A), RS1000767420 (5:62391793 G>A), RS1000920968 (5:62400021 T>C), RS1001052908 (5:62386916 G>A), RS1001229692 (5:62396307 G>C), RS1001285751 (5:62403456 C>T), RS1001401853 (5:62403160 A>G), RS1001557023 (5:62387456 C>T), RS1001636177 (5:62387273 T>C), RS1001668736 (5:62387616 T>C), RS1001939584 (5:62387787 A>G), RS1002025436 (5:62389382 T>A,C), RS1002183146 (5:62396499 C>T)

Disease associations

OMIM: gene MIM:612499 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067249 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.24	Kd	572.2	nM	CHEMBL5653589
6.24	ED50	572.2	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148240: Binding affinity to human DIMT1 incubated for 45 mins by Kinobead based pull down assay	kd	0.5722	uM

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression	3
bisphenol A	affects expression, decreases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Cadmium Chloride	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
jinfukang	decreases expression	1
Temozolomide	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Fluorouracil	decreases expression, affects reaction	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Ozone	affects expression, increases abundance	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651282	Binding	Binding affinity to human DIMT1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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