TRMT61B
gene geneOn this page
Also known as FLJ20628
Summary
TRMT61B (tRNA methyltransferase 61B, HGNC:26070) is a protein-coding gene on chromosome 2p23.2, encoding tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial (Q9BVS5). Methyltransferase that catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in various tRNAs in mitochondrion, including tRNA(Leu) (deciphering codons UUA or UUG), tRNA(Lys) and tRNA(Ser) (deciphering codons UCA, UCU, UCG or UCC).
Enables mRNA (adenine-N1-)-methyltransferase activity; rRNA (adenine) methyltransferase activity; and tRNA (adenine(58)-N1)-methyltransferase activity. Involved in mRNA processing and mitochondrial tRNA processing. Located in mitochondrial matrix.
Source: NCBI Gene 55006 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 97 total
- MANE Select transcript:
NM_017910
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26070 |
| Approved symbol | TRMT61B |
| Name | tRNA methyltransferase 61B |
| Location | 2p23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20628 |
| Ensembl gene | ENSG00000171103 |
| Ensembl biotype | protein_coding |
| OMIM | 619404 |
| Entrez | 55006 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000306108, ENST00000419999, ENST00000439947, ENST00000484060, ENST00000490390, ENST00000873366, ENST00000873367, ENST00000873368, ENST00000873369, ENST00000922653, ENST00000922654, ENST00000949006
RefSeq mRNA: 1 — MANE Select: NM_017910
NM_017910
CCDS: CCDS1768
Canonical transcript exons
ENST00000306108 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001155029 | 28851072 | 28851298 |
| ENSE00001155047 | 28865017 | 28865119 |
| ENSE00001660532 | 28849821 | 28850242 |
| ENSE00001751691 | 28869579 | 28870309 |
| ENSE00003568206 | 28850328 | 28850405 |
| ENSE00003576038 | 28852408 | 28852499 |
| ENSE00003616980 | 28861118 | 28861308 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 91.59.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.1548 / max 99.6345, expressed in 1789 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27572 | 15.1548 | 1789 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 91.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.77 | gold quality |
| oocyte | CL:0000023 | 89.15 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.25 | gold quality |
| heart right ventricle | UBERON:0002080 | 88.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.28 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.27 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.06 | gold quality |
| cardiac ventricle | UBERON:0002082 | 85.97 | gold quality |
| cortical plate | UBERON:0005343 | 85.80 | gold quality |
| ventricular zone | UBERON:0003053 | 85.73 | gold quality |
| jejunal mucosa | UBERON:0000399 | 85.70 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 85.59 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.50 | gold quality |
| cerebellum | UBERON:0002037 | 85.44 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.32 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.30 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.17 | gold quality |
| duodenum | UBERON:0002114 | 85.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.11 | gold quality |
| nephron tubule | UBERON:0001231 | 85.07 | gold quality |
| adrenal cortex | UBERON:0001235 | 84.97 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.97 | gold quality |
| adrenal gland | UBERON:0002369 | 84.87 | gold quality |
| mammary duct | UBERON:0001765 | 84.85 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.77 | gold quality |
| renal glomerulus | UBERON:0000074 | 84.72 | gold quality |
| muscle of leg | UBERON:0001383 | 84.59 | gold quality |
| biceps brachii | UBERON:0001507 | 84.59 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 84.43 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.50 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
44 targeting TRMT61B, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| 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 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-4519 | 99.48 | 66.10 | 859 |
| HSA-MIR-4696 | 99.48 | 67.48 | 1040 |
| HSA-MIR-140-5P | 99.44 | 67.20 | 792 |
| HSA-MIR-19A-5P | 99.36 | 66.93 | 1675 |
| HSA-MIR-19B-1-5P | 99.36 | 67.07 | 1669 |
| HSA-MIR-19B-2-5P | 99.36 | 67.07 | 1669 |
| HSA-MIR-6828-5P | 99.31 | 69.21 | 1433 |
Literature-anchored findings (GeneRIF, showing 3)
- Unlike the cytoplasmic tRNA m(1)A58 methyltransferase that consists of an alpha2beta2 heterotetramer formed by Trmt61A and Trmt6, Trmt61B formed a homo-oligomer (presumably a homotetramer) that resembled the bacterial homotetrameric m(1)A58 methyltransferase. (PMID:23097428)
- 16S rRNA RNA-DNA differences result from a 1-methyladenosine (m1A) modification introduced by TRMT61B. (PMID:27631568)
- TRMT61B rs4563180 G>C variant reduces hepatoblastoma risk: a case-control study of seven medical centers. (PMID:37531210)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trmt61b | ENSDARG00000097465 |
| drosophila_melanogaster | Trmt61 | FBGN0039407 |
| caenorhabditis_elegans | W02A11.1 | WBGENE00012192 |
Paralogs (1): TRMT61A (ENSG00000166166)
Protein
Protein identifiers
tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial — Q9BVS5 (reviewed: Q9BVS5)
Alternative names: mRNA methyladenosine-N(1)-methyltransferase
All UniProt accessions (3): Q9BVS5, F8WDR2, H7C2E8
UniProt curated annotations — full annotation on UniProt →
Function. Methyltransferase that catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in various tRNAs in mitochondrion, including tRNA(Leu) (deciphering codons UUA or UUG), tRNA(Lys) and tRNA(Ser) (deciphering codons UCA, UCU, UCG or UCC). Catalyzes the formation of 1-methyladenosine at position 947 of mitochondrial 16S ribosomal RNA and this modification is most likely important for mitoribosomal structure and function. In addition to tRNA N(1)-methyltransferase activity, also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA, leading to interfere with mitochondrial translation.
Subunit / interactions. Homooligomer; in contrast to TRMT61A, does not form a heterotetramer.
Subcellular location. Mitochondrion matrix.
Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM61 family.
RefSeq proteins (1): NP_060380* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR014816 | tRNA_MeTrfase_Gcd14 | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
| IPR049470 | TRM61_C | Domain |
| IPR054151 | TR61B_FKBP-like | Domain |
Pfam: PF08704, PF21985
Enzyme classification (BRENDA):
- EC 2.1.1.220 — tRNA (adenine58-N1)-methyltransferase (BRENDA: 8 organisms, 17 substrates, 2 inhibitors, 5 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ADENINE58 IN INITIATOR TRNAMET | — | 1 |
| ADENINE58 IN TRNAPHE | 0.0001 | 1 |
| S-ADENOSYL-L-METHIONINE | 0.005 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- adenosine(58) in tRNA + S-adenosyl-L-methionine = N(1)-methyladenosine(58) in tRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:43152)
- an adenosine in mRNA + S-adenosyl-L-methionine = an N(1)-methyladenosine in mRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:55392)
UniProt features (45 total): strand 14, region of interest 9, helix 8, binding site 5, compositionally biased region 2, sequence conflict 2, turn 2, transit peptide 1, chain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2B25 | X-RAY DIFFRACTION | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BVS5-F1 | 72.30 | 0.54 |
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 (5): 259; 278–279; 317; 335; 463
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 335 | loss of ability to catalyze the formation of 1-methyladenosine at position 947 of mitochondrial 16s ribosomal rna. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6787450 | tRNA modification in the mitochondrion |
| R-HSA-9937008 | Mitochondrial mRNA modification |
MSigDB gene sets: 118 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_TRNA_METABOLIC_PROCESS, GOBP_RNA_METHYLATION, GOBP_RNA_MODIFICATION, GOBP_MITOCHONDRIAL_RNA_PROCESSING, E4F1_Q6, GOBP_TRNA_METHYLATION, GOBP_MITOCHONDRIAL_RNA_METABOLIC_PROCESS, LASTOWSKA_COAMPLIFIED_WITH_MYCN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TIEN_INTESTINE_PROBIOTICS_24HR_UP, ACEVEDO_LIVER_CANCER_UP, GOBP_RRNA_MODIFICATION, GOBP_METHYLATION
GO Biological Process (6): mRNA processing (GO:0006397), tRNA methylation (GO:0030488), mitochondrial tRNA processing (GO:0090646), tRNA processing (GO:0008033), rRNA methylation (GO:0031167), methylation (GO:0032259)
GO Molecular Function (7): rRNA (adenine) methyltransferase activity (GO:0016433), mRNA (adenine-N1-)-methyltransferase activity (GO:0061953), tRNA (adenine(58)-N1)-methyltransferase activity (GO:0160107), protein binding (GO:0005515), methyltransferase activity (GO:0008168), tRNA (adenine) methyltransferase activity (GO:0016426), transferase activity (GO:0016740)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), tRNA (m1A) methyltransferase complex (GO:0031515)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| RNA methylation | 2 |
| mRNA metabolic process | 1 |
| tRNA modification | 1 |
| mitochondrial RNA metabolic process | 1 |
| mitochondrial RNA processing | 1 |
| tRNA processing | 1 |
| tRNA metabolic process | 1 |
| rRNA modification | 1 |
| metabolic process | 1 |
| rRNA methyltransferase activity | 1 |
| mRNA methyltransferase activity | 1 |
| tRNA (adenine) methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| tRNA methyltransferase activity | 1 |
| S-adenosylmethionine-dependent methyltransferase activity | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| tRNA methyltransferase complex | 1 |
Protein interactions and networks
STRING
1744 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRMT61B | TRMT6 | Q9UJA5 | 918 |
| TRMT61B | TRMT10C | Q7L0Y3 | 917 |
| TRMT61B | TRMT61A | Q96FX7 | 893 |
| TRMT61B | ALKBH1 | Q13686 | 711 |
| TRMT61B | MRM2 | Q9UI43 | 668 |
| TRMT61B | ALKBH3 | Q96Q83 | 667 |
| TRMT61B | NSUN4 | Q96CB9 | 647 |
| TRMT61B | MRM3 | Q9HC36 | 626 |
| TRMT61B | RPUSD4 | Q96CM3 | 624 |
| TRMT61B | TRMT2B | Q96GJ1 | 621 |
| TRMT61B | RRP8 | O43159 | 596 |
| TRMT61B | METTL1 | Q9UBP6 | 572 |
| TRMT61B | TRUB2 | O95900 | 568 |
| TRMT61B | PUS1 | Q9Y606 | 568 |
| TRMT61B | TRMT5 | Q32P41 | 567 |
IntAct
73 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DFFB | DFFA | psi-mi:“MI:0914”(association) | 0.940 |
| TRMT61B | PPTC7 | psi-mi:“MI:0914”(association) | 0.710 |
| TRMT61B | FAM9B | psi-mi:“MI:0915”(physical association) | 0.670 |
| FAM9B | TRMT61B | psi-mi:“MI:0915”(physical association) | 0.670 |
| RHOD | PLXNB2 | psi-mi:“MI:0914”(association) | 0.640 |
| IRF7 | TRMT61B | psi-mi:“MI:0915”(physical association) | 0.620 |
| TRMT61B | MTIF2 | psi-mi:“MI:0914”(association) | 0.610 |
| GRN | TRMT61B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRMT61B | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HIKESHI | CLEC3A | psi-mi:“MI:0914”(association) | 0.530 |
| POLR1C | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| VTN | HAT1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRM3 | NDUFS6 | psi-mi:“MI:0914”(association) | 0.530 |
| PPTC7 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| KCTD17 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| NOTCH2 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| NXT1 | GLE1 | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM10 | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
| IRF7 | AIP | psi-mi:“MI:0914”(association) | 0.500 |
BioGRID (342): FAM9B (Two-hybrid), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), CARS2 (Affinity Capture-MS)
ESM2 similar proteins: A4D126, A4II32, A6NDL7, A6QP81, B0K012, E1B8U2, E1BCH6, O55055, O95568, P50747, Q149N8, Q28IN4, Q2KIJ2, Q2T9W2, Q3U2J5, Q498D5, Q4AC99, Q4KM84, Q58DC7, Q5RE14, Q5VZV1, Q6DJF8, Q6GQ33, Q6GR37, Q6ZMV9, Q7SY78, Q7TPQ3, Q80WC9, Q8BLU2, Q8BSE0, Q8C436, Q8CDZ2, Q8K2I9, Q8NE18, Q8NFZ0, Q8WXB1, Q95LL7, Q96EN8, Q96LZ7, Q9BTF0
Diamond homologs: A6H791, O14307, P0CS08, P0CS09, P46959, P9WFZ0, P9WFZ1, Q2U3W4, Q2YY85, Q4WUT7, Q57598, Q5A416, Q5SKN4, Q6AY46, Q6BX32, Q6C0P9, Q6CN53, Q6FL77, Q755M8, Q80XC2, Q86JJ0, Q8GBB2, Q96FX7, Q9BVS5, Q9V1J7, A1AI22, A1SRS4, A4WFY5, A6TGL3, A6UWM1, A7MQL7, A7ZU40, A8A6U0, A8AAV7, A8ACY2, A9MIY3, A9MY97, B1IW72, B1LM21, B1XAJ7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
97 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1484 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:28850401:TTCTT:T | acceptor_gain | 1.0000 |
| 2:28850403:CTT:C | acceptor_gain | 1.0000 |
| 2:28850406:C:CC | acceptor_gain | 1.0000 |
| 2:28850409:T:TC | acceptor_gain | 1.0000 |
| 2:28852406:A:AC | donor_gain | 1.0000 |
| 2:28852407:C:CC | donor_gain | 1.0000 |
| 2:28861116:A:AC | donor_gain | 1.0000 |
| 2:28861116:ACTG:A | donor_gain | 1.0000 |
| 2:28861117:C:CC | donor_gain | 1.0000 |
| 2:28861117:CTG:C | donor_gain | 1.0000 |
| 2:28861117:CTGC:C | donor_gain | 1.0000 |
| 2:28861310:T:C | acceptor_gain | 1.0000 |
| 2:28849849:GTA:G | acceptor_gain | 0.9900 |
| 2:28850324:TCA:T | donor_loss | 0.9900 |
| 2:28850325:CACCT:C | donor_loss | 0.9900 |
| 2:28850326:A:AT | donor_loss | 0.9900 |
| 2:28850404:TT:T | acceptor_gain | 0.9900 |
| 2:28850406:C:T | acceptor_loss | 0.9900 |
| 2:28850407:T:A | acceptor_loss | 0.9900 |
| 2:28850409:T:C | acceptor_gain | 0.9900 |
| 2:28852407:CTTTA:C | donor_gain | 0.9900 |
| 2:28861117:CT:C | donor_gain | 0.9900 |
| 2:28861306:CAA:C | acceptor_gain | 0.9900 |
| 2:28861306:CAACT:C | acceptor_gain | 0.9900 |
| 2:28861309:C:CC | acceptor_gain | 0.9900 |
| 2:28861314:G:GC | acceptor_gain | 0.9900 |
| 2:28850243:C:CC | acceptor_gain | 0.9800 |
| 2:28850411:G:C | acceptor_gain | 0.9800 |
| 2:28850411:G:GC | acceptor_gain | 0.9800 |
| 2:28861109:AAAAC:A | donor_loss | 0.9800 |
AlphaMissense
3094 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:28861283:A:C | S276R | 0.983 |
| 2:28861283:A:T | S276R | 0.983 |
| 2:28861285:T:G | S276R | 0.983 |
| 2:28861195:A:G | W306R | 0.981 |
| 2:28861195:A:T | W306R | 0.981 |
| 2:28865036:G:C | S261R | 0.980 |
| 2:28865036:G:T | S261R | 0.980 |
| 2:28865038:T:G | S261R | 0.980 |
| 2:28865070:A:T | V250D | 0.974 |
| 2:28850238:A:C | F465L | 0.972 |
| 2:28850238:A:T | F465L | 0.972 |
| 2:28850240:A:G | F465L | 0.972 |
| 2:28861175:A:C | F312L | 0.954 |
| 2:28861175:A:T | F312L | 0.954 |
| 2:28861177:A:G | F312L | 0.954 |
| 2:28851207:A:G | W393R | 0.948 |
| 2:28851207:A:T | W393R | 0.948 |
| 2:28861193:C:A | W306C | 0.945 |
| 2:28861193:C:G | W306C | 0.945 |
| 2:28852427:A:G | C356R | 0.944 |
| 2:28861120:C:G | A331P | 0.944 |
| 2:28861176:A:G | F312S | 0.944 |
| 2:28861308:A:T | V268D | 0.943 |
| 2:28865025:G:A | S265F | 0.939 |
| 2:28861290:A:T | V274D | 0.938 |
| 2:28861231:A:G | W294R | 0.937 |
| 2:28861231:A:T | W294R | 0.937 |
| 2:28865046:C:T | G258D | 0.927 |
| 2:28861251:G:T | A287D | 0.925 |
| 2:28851278:A:G | L369P | 0.924 |
dbSNP variants (sampled 300 via entrez): RS1000176198 (2:28853427 C>T), RS1000176860 (2:28857453 T>C,G), RS1000199297 (2:28862415 C>T), RS1000263038 (2:28865939 C>T), RS1000507133 (2:28853097 A>G), RS1000573364 (2:28870446 T>C), RS1000700670 (2:28870356 G>A,T), RS1000763048 (2:28851812 G>A,C,T), RS1000839018 (2:28864606 G>A), RS1000962675 (2:28857998 A>G), RS1001312311 (2:28864872 G>T), RS1001730242 (2:28869365 G>C), RS1001896877 (2:28871431 T>C), RS1001915421 (2:28863337 G>A), RS1001979806 (2:28858012 G>C)
Disease associations
OMIM: gene MIM:619404 | 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 |
|---|---|---|
| GCST005580_106 | Intraocular pressure | 5.000000e-08 |
| GCST007656_7 | Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) | 9.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Manganese | increases expression, increases abundance | 1 |
| Phthalic Acids | increases methylation | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.