TMT1A
gene geneOn this page
Also known as DKFZP586A0522
Summary
TMT1A (thiol methyltransferase 1A, HGNC:24550) is a protein-coding gene on chromosome 12q13.12, encoding Thiol S-methyltransferase TMT1A (Q9H8H3). Thiol S-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to alkyl and phenolic thiol-containing acceptor substrates. It is a selective cancer dependency (DepMap: 11.3% of cell lines).
Enables mRNA m(6)A methyltransferase activity and thiol S-methyltransferase activity. Involved in lncRNA processing; odontogenesis; and osteoblast differentiation. Located in endoplasmic reticulum and lipid droplet.
Source: NCBI Gene 25840 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 49 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 11.3% of screened cell lines
- MANE Select transcript:
NM_014033
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24550 |
| Approved symbol | TMT1A |
| Name | thiol methyltransferase 1A |
| Location | 12q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP586A0522 |
| Ensembl gene | ENSG00000185432 |
| Ensembl biotype | protein_coding |
| OMIM | 618338 |
| Entrez | 25840 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 nonsense_mediated_decay
ENST00000332160, ENST00000547104, ENST00000548553, ENST00000550097, ENST00000550502, ENST00000949679, ENST00000949680, ENST00000949681
RefSeq mRNA: 1 — MANE Select: NM_014033
NM_014033
CCDS: CCDS8804
Canonical transcript exons
ENST00000332160 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001317034 | 50925015 | 50925536 |
| ENSE00001388041 | 50929914 | 50932508 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 99.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.2721 / max 955.2448, expressed in 1449 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 125466 | 22.6971 | 1271 |
| 125463 | 5.3501 | 921 |
| 125462 | 2.8180 | 949 |
| 125465 | 0.7792 | 364 |
| 125464 | 0.4102 | 211 |
| 125468 | 0.3443 | 181 |
| 125461 | 0.2036 | 105 |
| 125467 | 0.1943 | 85 |
| 125460 | 0.1854 | 91 |
| 125470 | 0.1636 | 48 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 99.86 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.72 | gold quality |
| bronchus | UBERON:0002185 | 99.67 | gold quality |
| nephron tubule | UBERON:0001231 | 99.66 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.64 | gold quality |
| adult organism | UBERON:0007023 | 99.54 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 99.51 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 99.43 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.38 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.30 | gold quality |
| caput epididymis | UBERON:0004358 | 99.26 | gold quality |
| renal medulla | UBERON:0000362 | 99.23 | gold quality |
| medial globus pallidus | UBERON:0002477 | 99.21 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 99.20 | gold quality |
| cardia of stomach | UBERON:0001162 | 99.19 | gold quality |
| globus pallidus | UBERON:0001875 | 99.18 | gold quality |
| parietal pleura | UBERON:0002400 | 99.17 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.17 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.13 | gold quality |
| kidney epithelium | UBERON:0004819 | 99.12 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.07 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.07 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.99 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.98 | gold quality |
| synovial joint | UBERON:0002217 | 98.97 | gold quality |
| pericardium | UBERON:0002407 | 98.97 | gold quality |
| diaphragm | UBERON:0001103 | 98.93 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.90 | gold quality |
| skin of hip | UBERON:0001554 | 98.85 | gold quality |
| pleura | UBERON:0000977 | 98.84 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 29.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
126 targeting TMT1A, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| 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-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- AAM-B is predominantly localized in lipid droplets and may be involved in recruitment of NS4B protein in the proximity of lipid droplets. (PMID:26185986)
- Results revealed that the methylation level of METTL7A was downregulated in thyroid cancer, and determined the methylation level of one CpG site at the exon of the METTL7A gene body impacted the transcriptional activity. (PMID:28416772)
- Quantitative proteomic analysis identifies novel regulators of methotrexate resistance in choriocarcinoma. (PMID:31955862)
- A Novel Localization of METTL7A in Bergmann Glial Cells in Human Cerebellum. (PMID:37176112)
- Transcriptomic characterization revealed that METTL7A inhibits melanoma progression via the p53 signaling pathway and immunomodulatory pathway. (PMID:37547717)
- The Methyltransferases METTL7A and METTL7B Confer Resistance to Thiol-Based Histone Deacetylase Inhibitors. (PMID:38151817)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmt1a.2 | ENSDARG00000028478 |
| danio_rerio | tmt1a.1 | ENSDARG00000056726 |
| danio_rerio | tmt1a.3 | ENSDARG00000060889 |
| mus_musculus | Tmt1a | ENSMUSG00000054619 |
| mus_musculus | Tmt1a2 | ENSMUSG00000056487 |
| mus_musculus | Tmt1a3 | ENSMUSG00000058057 |
| rattus_norvegicus | Tmt1a | ENSRNOG00000001376 |
| caenorhabditis_elegans | WBGENE00019675 | |
| caenorhabditis_elegans | WBGENE00019961 | |
| caenorhabditis_elegans | WBGENE00019963 | |
| caenorhabditis_elegans | WBGENE00019968 |
Paralogs (4): COQ5 (ENSG00000110871), METTL27 (ENSG00000165171), TMT1B (ENSG00000170439), AS3MT (ENSG00000214435)
Protein
Protein identifiers
Thiol S-methyltransferase TMT1A — Q9H8H3 (reviewed: Q9H8H3)
Alternative names: Methyltransferase-like protein 7A, N6-adenosine-methyltransferase TMT1A, Protein AAM-B, Thiol methyltransferase 1A
All UniProt accessions (3): F8VQX6, Q9H8H3, H0YI09
UniProt curated annotations — full annotation on UniProt →
Function. Thiol S-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to alkyl and phenolic thiol-containing acceptor substrates. Together with TMT1B accounts for most of S-thiol methylation activity in the endoplasmic reticulum of hepatocytes. Able to methylate the N6 position of adenosine residues in long non-coding RNAs (lncRNAs). May facilitate lncRNAs transfer into exosomes at the tumor-stroma interface. Promotes osteogenic and odontogenic differentiation by regulating the expression of genes involved in stem cell differentiation and survival. Targeted from the endoplasmic reticulum to lipid droplets, where it recruits cellular proteins to form functional organelles. (Microbial infection) May be involved in the assembly and release stages of hepatitis C virus (HCV) life cycle and thus play a crucial role in HCV propagation.
Subunit / interactions. (Microbial infection) Interacts with HCV non-structural protein 4B/NS4B (via C-terminal region); this interaction may promote the recruitment of NS4B in the proximity of lipid droplet. Self-associates. Interacts with SNRNP200; this interaction may promote the odontogenic differentiation.
Subcellular location. Lipid droplet. Endoplasmic reticulum. Membrane. Microsome. Cytoplasm. Cytosol.
Tissue specificity. Expressed in the liver.
Post-translational modifications. Methylated at lysine residues most likely by EZH2.
Activity regulation. Inhibited by 2,3-dichloro-alpha-methylbenzylamine (DCMB).
Induction. Silenced by miR-6807-5p.
Miscellaneous. Selectively methylates drugs containing thiol-moieties such as 7alpha-thiospironolactone and mertansine.
Similarity. Belongs to the methyltransferase superfamily.
RefSeq proteins (1): NP_054752* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013216 | Methyltransf_11 | Domain |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
| IPR052356 | Thiol_S-MT | Family |
Pfam: PF08241
Catalyzed reactions (Rhea), 2 shown:
- a thiol + S-adenosyl-L-methionine = a methyl thioether + S-adenosyl-L-homocysteine + H(+) (RHEA:18277)
- an adenosine in mRNA + S-adenosyl-L-methionine = an N(6)-methyladenosine in mRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:55584)
UniProt features (5 total): signal peptide 1, chain 1, region of interest 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H8H3-F1 | 96.16 | 0.96 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 298 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, MULLIGHAN_NPM1_SIGNATURE_3_UP, KOBAYASHI_EGFR_SIGNALING_24HR_UP, REACTOME_INNATE_IMMUNE_SYSTEM, MODULE_255, GOCC_SECRETORY_GRANULE, LOPEZ_MESOTHELIOMA_SURVIVAL_OVERALL_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, MODULE_317, GOBP_OSTEOBLAST_DIFFERENTIATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1
GO Biological Process (4): osteoblast differentiation (GO:0001649), methylation (GO:0032259), odontogenesis (GO:0042476), lncRNA processing (GO:0180035)
GO Molecular Function (7): mRNA m(6)A methyltransferase activity (GO:0001734), methyltransferase activity (GO:0008168), RNA methyltransferase activity (GO:0008173), thiol S-methyltransferase activity (GO:0018708), protein binding (GO:0005515), S-adenosylmethionine-dependent methyltransferase activity (GO:0008757), transferase activity (GO:0016740)
GO Cellular Component (7): extracellular region (GO:0005576), endoplasmic reticulum (GO:0005783), lipid droplet (GO:0005811), cytosol (GO:0005829), membrane (GO:0016020), tertiary granule lumen (GO:1904724), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| methyltransferase activity | 2 |
| cytoplasm | 2 |
| ossification | 1 |
| cell differentiation | 1 |
| metabolic process | 1 |
| animal organ morphogenesis | 1 |
| RNA processing | 1 |
| mRNA methyltransferase activity | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity, acting on RNA | 1 |
| S-methyltransferase activity | 1 |
| S-adenosylmethionine-dependent methyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular organelle lumen | 1 |
| tertiary granule | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1206 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMT1A | FAF2 | Q96CS3 | 507 |
| TMT1A | AUP1 | Q9Y679 | 497 |
| TMT1A | METTL17 | Q9H7H0 | 497 |
| TMT1A | METTL25 | Q8N6Q8 | 485 |
| TMT1A | HSD17B11 | Q8NBQ5 | 445 |
| TMT1A | EEF1AKMT2 | Q5JPI9 | 441 |
| TMT1A | TMEM126A | Q9H061 | 440 |
| TMT1A | METTL27 | Q8N6F8 | 430 |
| TMT1A | METTL8 | Q9H825 | 425 |
| TMT1A | K7ERJ3 | K7ERJ3 | 411 |
| TMT1A | CEBPZOS | A8MTT3 | 410 |
| TMT1A | METTL26 | Q96S19 | 399 |
| TMT1A | METTL6 | Q8TCB7 | 398 |
| TMT1A | METTL15 | A6NJ78 | 381 |
| TMT1A | TMEM41A | Q96HV5 | 381 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ELAVL4 | TMT1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMT1A | FGFR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMT1A | GSN | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMT1A | NDUFS3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMT1A | PPIA | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMT1A | PRKCA | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMT1A | YWHAG | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMT1A | SETDB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMT1A | KAT5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | TMT1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATXN3 | TMT1A | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (382): METTL7A (Affinity Capture-MS), METTL7A (Affinity Capture-MS), METTL7A (Affinity Capture-MS), METTL7A (Affinity Capture-MS), METTL7A (Affinity Capture-MS), METTL7A (Affinity Capture-MS), METTL7A (Affinity Capture-MS), METTL7A (Affinity Capture-MS), METTL7A (Proximity Label-MS), METTL7A (Affinity Capture-MS), METTL7A (Affinity Capture-MS), METTL7A (Proximity Label-MS), METTL7A (Proximity Label-MS), METTL7A (Proximity Label-MS), METTL7A (Proximity Label-MS)
ESM2 similar proteins: A2RU49, A3KCL7, A7RDN6, A7YVH9, D3ZDM7, E9PYK3, E9Q5L8, G5E8F4, O14772, O55060, O55239, P13676, P13798, P19205, P25154, P31228, P40261, P50747, P79106, P80227, P83006, Q03426, Q06AV1, Q0V8R7, Q14CH1, Q28IN4, Q5I0K5, Q5REJ2, Q5RFM7, Q5SZD4, Q5U2W9, Q68FS6, Q6DJF8, Q6GQ33, Q6PE15, Q8C1A3, Q8CDZ2, Q8R146, Q8WU10, Q90678
Diamond homologs: A0A067XMT3, A6ZRD1, P32643, P38892, Q0CCX8, Q562C4, Q6UX53, Q9DD20, Q9H8H3, Q9TYP1, E3G327, Q6D3C1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
482 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:50929913:GGGA:G | acceptor_gain | 1.0000 |
| 12:50925532:GACCG:G | donor_gain | 0.9900 |
| 12:50925535:CGGTG:C | donor_loss | 0.9900 |
| 12:50925537:G:GA | donor_loss | 0.9900 |
| 12:50925537:G:GG | donor_gain | 0.9900 |
| 12:50925538:T:TC | donor_loss | 0.9900 |
| 12:50925539:GAGT:G | donor_loss | 0.9900 |
| 12:50929911:CAGGG:C | acceptor_gain | 0.9900 |
| 12:50929912:AG:A | acceptor_gain | 0.9900 |
| 12:50929912:AGGG:A | acceptor_gain | 0.9900 |
| 12:50929913:GG:G | acceptor_gain | 0.9900 |
| 12:50929913:GGGAG:G | acceptor_gain | 0.9900 |
| 12:50925033:T:TA | acceptor_gain | 0.9800 |
| 12:50925540:AGTGA:A | donor_loss | 0.9800 |
| 12:50929912:A:AG | acceptor_gain | 0.9800 |
| 12:50929913:G:GG | acceptor_gain | 0.9800 |
| 12:50925038:A:AG | acceptor_gain | 0.9700 |
| 12:50929912:AGG:A | acceptor_gain | 0.9700 |
| 12:50929913:GGG:G | acceptor_gain | 0.9700 |
| 12:50925038:AATG:A | acceptor_gain | 0.9500 |
| 12:50925534:CCG:C | donor_gain | 0.9500 |
| 12:50925038:AAT:A | acceptor_gain | 0.9400 |
| 12:50925113:G:A | acceptor_gain | 0.9400 |
| 12:50925161:G:GC | acceptor_gain | 0.9400 |
| 12:50925103:T:A | acceptor_gain | 0.9300 |
| 12:50924666:G:C | acceptor_gain | 0.9200 |
| 12:50925039:A:G | acceptor_gain | 0.9100 |
| 12:50925547:GGGT:G | donor_gain | 0.9100 |
| 12:50925548:GGTG:G | donor_gain | 0.9100 |
| 12:50925112:T:TA | acceptor_gain | 0.8800 |
AlphaMissense
1602 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:50930134:G:A | G240E | 0.971 |
| 12:50925290:C:A | N84K | 0.969 |
| 12:50925290:C:G | N84K | 0.969 |
| 12:50925529:T:C | L164P | 0.960 |
| 12:50925324:T:C | C96R | 0.959 |
| 12:50930140:C:A | A242D | 0.958 |
| 12:50929940:T:A | H175Q | 0.955 |
| 12:50929940:T:G | H175Q | 0.955 |
| 12:50925203:G:C | K55N | 0.954 |
| 12:50925203:G:T | K55N | 0.954 |
| 12:50925297:T:C | F87L | 0.952 |
| 12:50925299:C:A | F87L | 0.952 |
| 12:50925299:C:G | F87L | 0.952 |
| 12:50930139:G:C | A242P | 0.950 |
| 12:50925283:G:A | G82E | 0.946 |
| 12:50925326:T:G | C96W | 0.946 |
| 12:50925465:T:C | C143R | 0.944 |
| 12:50925480:T:C | C148R | 0.943 |
| 12:50929979:A:C | Q188H | 0.941 |
| 12:50929979:A:T | Q188H | 0.941 |
| 12:50930037:A:C | S208R | 0.941 |
| 12:50930039:C:A | S208R | 0.941 |
| 12:50930039:C:G | S208R | 0.941 |
| 12:50925460:T:A | V141E | 0.940 |
| 12:50930064:T:C | F217L | 0.939 |
| 12:50930066:C:A | F217L | 0.939 |
| 12:50930066:C:G | F217L | 0.939 |
| 12:50925300:T:G | Y88D | 0.938 |
| 12:50929936:A:T | E174V | 0.938 |
| 12:50925282:G:T | G82W | 0.936 |
dbSNP variants (sampled 300 via entrez): RS1001066648 (12:50928516 G>A), RS1001274023 (12:50930434 C>G,T), RS1001405059 (12:50930217 C>G,T), RS1001457539 (12:50929817 T>C), RS1001503330 (12:50923837 A>G), RS1001979285 (12:50924901 A>G,T), RS1002035908 (12:50923516 T>A), RS1002554250 (12:50926034 A>G), RS1003129550 (12:50931461 G>C), RS1003615733 (12:50929026 T>A), RS1003798246 (12:50924612 C>T), RS1003954716 (12:50931443 C>T), RS1004057004 (12:50926547 G>A), RS1004082824 (12:50924833 T>A,G), RS1004102272 (12:50928947 T>TA)
Disease associations
OMIM: gene MIM:618338 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006979_1057 | Heel bone mineral density | 3.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067229 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.60 | Kd | 2493 | nM | CHEMBL5653589 |
| 5.53 | ED50 | 2975 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 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 | 2148745: Binding affinity to human METTL7A incubated for 45 mins by Kinobead based pull down assay | kd | 2.4929 | uM |
CTD chemical–gene interactions
93 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 5 |
| Air Pollutants | decreases expression, affects expression, increases abundance | 4 |
| Benzo(a)pyrene | decreases expression, decreases methylation, increases expression, affects methylation | 4 |
| Estradiol | decreases expression, increases expression, affects cotreatment | 4 |
| Progesterone | affects cotreatment, increases expression | 4 |
| Cyclosporine | decreases expression | 4 |
| Resveratrol | affects cotreatment, increases expression | 3 |
| Cisplatin | affects expression, affects cotreatment, increases expression | 3 |
| Dexamethasone | increases expression, affects cotreatment | 3 |
| Hydrogen Peroxide | affects expression, decreases expression | 3 |
| Smoke | decreases expression, increases abundance | 3 |
| Genistein | increases expression, increases reaction, decreases expression | 3 |
| bisphenol F | increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment, decreases expression | 2 |
| Decitabine | affects expression, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Calcitriol | decreases expression, affects cotreatment | 2 |
| Formaldehyde | increases expression | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | increases expression | 1 |
| bisphenol A | affects 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 |
|---|---|---|---|
| CHEMBL5651787 | Binding | Binding affinity to human METTL7A 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.