MRM3
gene geneOn this page
Also known as FLJ10581HC90RMTL1
Summary
MRM3 (mitochondrial rRNA methyltransferase 3, HGNC:18485) is a protein-coding gene on chromosome 17p13.3, encoding rRNA methyltransferase 3, mitochondrial (Q9HC36). S-adenosyl-L-methionine-dependent 2’-O-ribose methyltransferase that catalyzes the formation of 2’-O-methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mt…. It is a selective cancer dependency (DepMap: 11.6% of cell lines).
Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 55178 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 12 total
- Cancer dependency (DepMap): dependent in 11.6% of screened cell lines
- MANE Select transcript:
NM_018146
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18485 |
| Approved symbol | MRM3 |
| Name | mitochondrial rRNA methyltransferase 3 |
| Location | 17p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10581, HC90, RMTL1 |
| Ensembl gene | ENSG00000171861 |
| Ensembl biotype | protein_coding |
| OMIM | 612600 |
| Entrez | 55178 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000304478, ENST00000571157, ENST00000574509, ENST00000574916, ENST00000872466, ENST00000872467, ENST00000938389, ENST00000938390
RefSeq mRNA: 2 — MANE Select: NM_018146
NM_001317947, NM_018146
CCDS: CCDS10997
Canonical transcript exons
ENST00000304478 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001130996 | 783083 | 783327 |
| ENSE00001199338 | 782353 | 782692 |
| ENSE00001265741 | 791534 | 792509 |
| ENSE00003507601 | 787965 | 788132 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 92.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.9915 / max 124.8042, expressed in 1810 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158691 | 14.8547 | 1810 |
| 158692 | 0.1368 | 56 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 92.31 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.93 | gold quality |
| muscle of leg | UBERON:0001383 | 89.37 | gold quality |
| apex of heart | UBERON:0002098 | 88.67 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.76 | gold quality |
| muscle organ | UBERON:0001630 | 87.27 | gold quality |
| gluteal muscle | UBERON:0002000 | 87.00 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.78 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.73 | gold quality |
| body of pancreas | UBERON:0001150 | 86.55 | gold quality |
| sperm | CL:0000019 | 86.37 | gold quality |
| deltoid | UBERON:0001476 | 85.67 | silver quality |
| right lobe of liver | UBERON:0001114 | 85.63 | gold quality |
| heart left ventricle | UBERON:0002084 | 85.38 | gold quality |
| cardiac ventricle | UBERON:0002082 | 85.06 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.79 | gold quality |
| left testis | UBERON:0004533 | 84.54 | gold quality |
| pancreas | UBERON:0001264 | 84.44 | gold quality |
| right adrenal gland | UBERON:0001233 | 84.29 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 84.29 | gold quality |
| testis | UBERON:0000473 | 84.23 | gold quality |
| body of stomach | UBERON:0001161 | 84.23 | gold quality |
| male germ cell | CL:0000015 | 84.21 | gold quality |
| right testis | UBERON:0004534 | 84.15 | gold quality |
| left adrenal gland | UBERON:0001234 | 83.98 | gold quality |
| gingiva | UBERON:0001828 | 83.92 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 83.90 | gold quality |
| skin of leg | UBERON:0001511 | 83.87 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 83.84 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.72 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CREB1
miRNA regulators (miRDB)
20 targeting MRM3, 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-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-767-3P | 98.61 | 67.69 | 1192 |
| HSA-MIR-138-5P | 98.43 | 70.49 | 1292 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-660-3P | 98.14 | 66.04 | 1434 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-5189-5P | 97.72 | 66.96 | 1814 |
| HSA-MIR-612 | 97.26 | 65.95 | 1597 |
| HSA-MIR-6860 | 97.21 | 66.31 | 1656 |
| HSA-MIR-8071 | 95.69 | 64.93 | 484 |
| HSA-MIR-4765 | 93.11 | 66.17 | 737 |
| HSA-MIR-8053 | 92.82 | 66.12 | 79 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- The ATF/CREB site is the key element for transcription of this protein found on human chromosome 17. (PMID:12296377)
- MRM2 and MRM3 are human mitochondrial methyltransferases involved in the modification of 16S rRNA and are important factors for the biogenesis and function of the large subunit of the mitochondrial ribosome. (PMID:25009282)
- Data show that 2’-O-methyltransferases MRM1, MRM2, and RNMTL1 are responsible for modification of large subunit rRNA at residues G1145, U1369, and G1370, respectively. (PMID:25074936)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Mrm3 | ENSMUSG00000038046 |
| rattus_norvegicus | Mrm3 | ENSRNOG00000037238 |
| caenorhabditis_elegans | WBGENE00020498 |
Paralogs (2): TARBP1 (ENSG00000059588), MRM1 (ENSG00000278619)
Protein
Protein identifiers
rRNA methyltransferase 3, mitochondrial — Q9HC36 (reviewed: Q9HC36)
Alternative names: 16S rRNA (guanosine(1370)-2’-O)-methyltransferase, 16S rRNA [Gm1370] 2’-O-methyltransferase, RNA methyltransferase-like protein 1
All UniProt accessions (3): Q9HC36, I3L0T6, I3L443
UniProt curated annotations — full annotation on UniProt →
Function. S-adenosyl-L-methionine-dependent 2’-O-ribose methyltransferase that catalyzes the formation of 2’-O-methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mtLSU rRNA. Also required for formation of 2’-O-methyluridine at position 1369 (Um1369) mediated by MRM2.
Subcellular location. Mitochondrion.
Tissue specificity. Expressed at same level in normal liver and hepatocarcinoma.
Similarity. Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family.
RefSeq proteins (2): NP_001304876, NP_060616* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001537 | SpoU_MeTrfase | Domain |
| IPR013123 | SpoU_subst-bd | Domain |
| IPR029026 | tRNA_m1G_MTases_N | Homologous_superfamily |
| IPR029028 | Alpha/beta_knot_MTases | Homologous_superfamily |
| IPR029064 | Ribosomal_eL30-like_sf | Homologous_superfamily |
| IPR051259 | rRNA_Methyltransferase | Family |
| IPR053888 | MRM3-like_sub_bind | Domain |
Pfam: PF00588, PF22435
Enzyme classification (BRENDA):
- EC 2.1.1.B124 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
Catalyzed reactions (Rhea), 1 shown:
- guanosine(1370) in 16S rRNA + S-adenosyl-L-methionine = 2’-O-methylguanosine(1370) in 16S rRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:47756)
UniProt features (12 total): sequence variant 4, binding site 3, transit peptide 1, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OI6 | ELECTRON MICROSCOPY | 5.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HC36-F1 | 74.54 | 0.51 |
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 (3): 356; 380; 389
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6793080 | rRNA modification in the mitochondrion |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868766 | rRNA processing in the mitochondrion |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 151 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_RIBOSOME_ASSEMBLY, GOBP_RNA_METHYLATION, MUELLER_PLURINET, GOBP_RNA_MODIFICATION, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, BLALOCK_ALZHEIMERS_DISEASE_UP, E4F1_Q6, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, MCCLUNG_COCAINE_REWARD_5D, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, GOBP_RRNA_MODIFICATION, GOBP_METHYLATION, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS
GO Biological Process (5): rRNA 2’-O-methylation (GO:0000451), rRNA processing (GO:0006364), mitochondrial large ribosomal subunit assembly (GO:1902775), RNA processing (GO:0006396), methylation (GO:0032259)
GO Molecular Function (7): RNA binding (GO:0003723), identical protein binding (GO:0042802), rRNA (guanosine-2’-O-ribose)-methyltransferase activity (GO:0070039), protein binding (GO:0005515), methyltransferase activity (GO:0008168), RNA methyltransferase activity (GO:0008173), transferase activity (GO:0016740)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the mitochondrion | 1 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| rRNA methylation | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| ribosomal large subunit assembly | 1 |
| mitochondrial ribosome assembly | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| metabolic process | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| rRNA 2’-O-methylation | 1 |
| rRNA (guanine) methyltransferase activity | 1 |
| RNA 2’-O-methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| methyltransferase activity | 1 |
| catalytic activity, acting on RNA | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2159 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRM3 | MRM2 | Q9UI43 | 830 |
| MRM3 | MRM1 | Q6IN84 | 807 |
| MRM3 | DDX28 | Q9NUL7 | 802 |
| MRM3 | MALSU1 | Q96EH3 | 761 |
| MRM3 | MTERF3 | Q96E29 | 752 |
| MRM3 | NSUN4 | Q96CB9 | 710 |
| MRM3 | RPUSD4 | Q96CM3 | 701 |
| MRM3 | METTL15 | A6NJ78 | 693 |
| MRM3 | METTL1 | Q9UBP6 | 685 |
| MRM3 | NGRN | Q9NPE2 | 676 |
| MRM3 | GTPBP10 | A4D1E9 | 661 |
| MRM3 | FASTKD2 | Q9NYY8 | 654 |
| MRM3 | MTERF4 | Q7Z6M4 | 652 |
| MRM3 | MTG2 | Q9H4K7 | 650 |
| MRM3 | TFB1M | Q8WVM0 | 630 |
IntAct
169 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | MRM3 | psi-mi:“MI:0915”(physical association) | 0.770 |
| N | HNRNPR | psi-mi:“MI:0914”(association) | 0.730 |
| FHL3 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| SCARF1 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNF | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIP | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRM3 | AIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BTN2A2 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRM3 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAD2 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARLN | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFPL1 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| JAGN1 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT2 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRM3 | UBIAD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL42 | GATC | psi-mi:“MI:0914”(association) | 0.530 |
| MRM3 | NDUFS6 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL28 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| N | HNRNPDL | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (223): RNMTL1 (Two-hybrid), RNMTL1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS), PMPCB (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS), RNMTL1 (Reconstituted Complex), RNMTL1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS), RNMTL1 (Affinity Capture-MS)
ESM2 similar proteins: A0JPF9, A4D126, A5PKL6, A6QP81, B2GUS6, D2H8V8, E1BCH6, E1BVR9, E9PYK3, F1ND48, G5E8F4, P79106, Q28CZ7, Q32PY6, Q3U269, Q3U3W5, Q3U5Q7, Q3UVV9, Q49MI3, Q4R3W5, Q5F3V0, Q5ND52, Q5R5X9, Q5RCP1, Q5RFM7, Q5RJG7, Q5RL51, Q5S6T3, Q5T8I9, Q5VZV1, Q6AYG3, Q8BIW1, Q8BK58, Q8BQJ6, Q8BTK5, Q8BZ20, Q8C5V5, Q8CAE2, Q8IXQ6, Q8IYR2
Diamond homologs: A1L2E4, A4QNL8, P94538, Q566V3, Q5ND52, Q5SM16, Q6GPJ4, Q72GI1, Q7VQP0, Q9HC36, Q9VW14, A0R557, A1TG08, A1UMF4, A3Q6V9, A4T5L0, D7A3L6, O30272, O51081, O51468, O67577, P0AGJ2, P0AGJ3, P0AGJ4, P44906, P47494, P52393, P63177, P63178, P63179, P63180, P75424, Q06753, Q1B2P4, Q49V41, Q6D127, Q6FF50, Q6LM40, Q7MH13, Q7MYU6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 151 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 |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 20 | 23.6× | 6e-20 |
| Mitochondrial translation | 17 | 22.5× | 7e-17 |
| Mitochondrial translation initiation | 18 | 22.0× | 1e-17 |
| Mitochondrial translation elongation | 18 | 22.0× | 1e-17 |
| Mitochondrial translation termination | 18 | 19.0× | 1e-16 |
| Translation | 20 | 11.9× | 1e-14 |
| rRNA modification in the nucleus and cytosol | 5 | 9.0× | 3e-03 |
| Peptide chain elongation | 7 | 8.5× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 21 | 26.4× | 1e-21 |
| cytoplasmic translation | 8 | 10.7× | 2e-04 |
| translation | 14 | 10.4× | 3e-08 |
| ribosomal small subunit biogenesis | 6 | 9.9× | 4e-03 |
| RNA processing | 6 | 9.5× | 5e-03 |
| rRNA processing | 8 | 8.2× | 1e-03 |
| RNA splicing | 10 | 6.4× | 8e-04 |
| mRNA processing | 9 | 5.1× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
12 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
484 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:782640:G:GT | donor_gain | 1.0000 |
| 17:782640:G:T | donor_gain | 1.0000 |
| 17:783082:GCAGT:G | acceptor_gain | 1.0000 |
| 17:791526:T:G | acceptor_gain | 1.0000 |
| 17:791528:TTCCA:T | acceptor_loss | 1.0000 |
| 17:791529:TCCA:T | acceptor_loss | 1.0000 |
| 17:791530:CCA:C | acceptor_loss | 1.0000 |
| 17:791531:CAG:C | acceptor_loss | 1.0000 |
| 17:791532:A:AG | acceptor_gain | 1.0000 |
| 17:791533:G:GA | acceptor_loss | 1.0000 |
| 17:791533:G:GG | acceptor_gain | 1.0000 |
| 17:791533:GGCT:G | acceptor_gain | 1.0000 |
| 17:782684:GAGGC:G | donor_gain | 0.9900 |
| 17:782687:GC:G | donor_gain | 0.9900 |
| 17:783082:GCA:G | acceptor_gain | 0.9900 |
| 17:783319:GAA:G | donor_gain | 0.9900 |
| 17:791525:A:AG | acceptor_gain | 0.9900 |
| 17:791532:AG:A | acceptor_gain | 0.9900 |
| 17:791532:AGGCT:A | acceptor_gain | 0.9900 |
| 17:791533:GG:G | acceptor_gain | 0.9900 |
| 17:791533:GGC:G | acceptor_gain | 0.9900 |
| 17:791533:GGCTG:G | acceptor_gain | 0.9900 |
| 17:782785:G:GG | donor_gain | 0.9800 |
| 17:783326:GG:G | donor_gain | 0.9800 |
| 17:783327:GG:G | donor_gain | 0.9800 |
| 17:782609:G:GT | donor_gain | 0.9700 |
| 17:782662:A:G | donor_gain | 0.9700 |
| 17:783076:T:G | acceptor_gain | 0.9700 |
| 17:783255:GTC:G | donor_gain | 0.9700 |
| 17:787963:A:AG | acceptor_gain | 0.9700 |
AlphaMissense
2739 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:791992:A:C | S396R | 0.996 |
| 17:791994:C:A | S396R | 0.996 |
| 17:791994:C:G | S396R | 0.996 |
| 17:791548:T:A | W248R | 0.994 |
| 17:791548:T:C | W248R | 0.994 |
| 17:783327:G:A | G187R | 0.993 |
| 17:783327:G:C | G187R | 0.993 |
| 17:787965:G:A | G187E | 0.993 |
| 17:788075:G:T | G224W | 0.993 |
| 17:783169:C:A | A134D | 0.992 |
| 17:783147:G:C | G127R | 0.991 |
| 17:783168:G:C | A134P | 0.991 |
| 17:783327:G:T | G187W | 0.991 |
| 17:788045:T:C | C214R | 0.991 |
| 17:788073:T:C | L223P | 0.991 |
| 17:791842:T:A | W346R | 0.991 |
| 17:791842:T:C | W346R | 0.991 |
| 17:792004:T:C | F400L | 0.991 |
| 17:792006:C:A | F400L | 0.991 |
| 17:792006:C:G | F400L | 0.991 |
| 17:783118:G:C | R117P | 0.990 |
| 17:783207:A:C | S147R | 0.990 |
| 17:783209:C:A | S147R | 0.990 |
| 17:783209:C:G | S147R | 0.990 |
| 17:791617:T:A | W271R | 0.990 |
| 17:791617:T:C | W271R | 0.990 |
| 17:791588:T:C | F261S | 0.989 |
| 17:788075:G:A | G224R | 0.988 |
| 17:788075:G:C | G224R | 0.988 |
| 17:791976:C:A | N390K | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000189619 (17:789463 G>T), RS1000192306 (17:786700 C>T), RS1000224066 (17:787468 G>T), RS1000291531 (17:792436 A>C,G), RS1000387183 (17:782045 T>G), RS1000635563 (17:780861 A>C), RS1000719775 (17:781078 G>T), RS1000855903 (17:786924 C>G), RS1000933558 (17:787840 C>T), RS1000936512 (17:781164 A>C,T), RS1000969347 (17:786381 C>T), RS1001047437 (17:792430 C>T), RS1001080305 (17:792129 G>A), RS1001467371 (17:785838 T>A), RS1001606920 (17:785430 T>C)
Disease associations
OMIM: gene MIM:612600 | 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 |
|---|---|---|
| GCST001942_3 | Prostate cancer | 5.000000e-15 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 4 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| urushiol | decreases expression | 1 |
| trichostatin A | affects expression, decreases reaction | 1 |
| tobacco tar | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| abrine | decreases expression, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Methapyrilene | decreases methylation | 1 |
| Nickel | affects expression, decreases reaction | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
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.