TRMT6
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Also known as GCD10MGC5029Gcd10pCGI-09
Summary
TRMT6 (tRNA methyltransferase 6 non-catalytic subunit, HGNC:20900) is a protein-coding gene on chromosome 20p12.3, encoding tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 (Q9UJA5). Substrate-binding subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA. It is a selective cancer dependency (DepMap: 35.5% of cell lines).
This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51605 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 70 total
- Cancer dependency (DepMap): dependent in 35.5% of screened cell lines
- MANE Select transcript:
NM_015939
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20900 |
| Approved symbol | TRMT6 |
| Name | tRNA methyltransferase 6 non-catalytic subunit |
| Location | 20p12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GCD10, MGC5029, Gcd10p, CGI-09 |
| Ensembl gene | ENSG00000089195 |
| Ensembl biotype | protein_coding |
| OMIM | 620886 |
| Entrez | 51605 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000203001, ENST00000453074, ENST00000466974, ENST00000473131, ENST00000493972, ENST00000931286, ENST00000931287, ENST00000931288, ENST00000931289
RefSeq mRNA: 2 — MANE Select: NM_015939
NM_001281467, NM_015939
CCDS: CCDS13093, CCDS63225
Canonical transcript exons
ENST00000203001 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001714451 | 5950278 | 5950533 |
| ENSE00003478761 | 5943948 | 5944031 |
| ENSE00003508092 | 5941243 | 5941345 |
| ENSE00003526050 | 5946406 | 5946533 |
| ENSE00003533977 | 5941053 | 5941139 |
| ENSE00003571966 | 5942428 | 5942786 |
| ENSE00003596634 | 5943559 | 5943683 |
| ENSE00003606889 | 5944805 | 5944914 |
| ENSE00003631145 | 5944162 | 5944253 |
| ENSE00003639501 | 5941951 | 5942036 |
| ENSE00003847622 | 5937228 | 5938726 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 96.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9188 / max 267.7466, expressed in 1770 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186334 | 11.2748 | 1759 |
| 186333 | 2.6439 | 1050 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.44 | gold quality |
| oocyte | CL:0000023 | 96.22 | gold quality |
| upper arm skin | UBERON:0004263 | 91.35 | gold quality |
| nipple | UBERON:0002030 | 90.14 | gold quality |
| kidney epithelium | UBERON:0004819 | 89.69 | gold quality |
| seminal vesicle | UBERON:0000998 | 89.31 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.08 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.07 | gold quality |
| cerebellar vermis | UBERON:0004720 | 88.73 | gold quality |
| parotid gland | UBERON:0001831 | 87.48 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 87.37 | gold quality |
| pons | UBERON:0000988 | 87.24 | gold quality |
| bone marrow | UBERON:0002371 | 87.21 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.58 | gold quality |
| monocyte | CL:0000576 | 86.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.45 | gold quality |
| pericardium | UBERON:0002407 | 86.41 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 86.38 | gold quality |
| leukocyte | CL:0000738 | 86.29 | gold quality |
| pylorus | UBERON:0001166 | 86.20 | gold quality |
| deltoid | UBERON:0001476 | 86.18 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 86.16 | gold quality |
| mammalian vulva | UBERON:0000997 | 85.97 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 85.85 | gold quality |
| gingival epithelium | UBERON:0001949 | 85.67 | gold quality |
| renal medulla | UBERON:0000362 | 85.59 | gold quality |
| muscle of leg | UBERON:0001383 | 85.49 | gold quality |
| synovial joint | UBERON:0002217 | 85.49 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 85.46 | gold quality |
| gingiva | UBERON:0001828 | 85.39 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 18.46 |
| E-MTAB-9467 | yes | 11.25 |
| E-GEOD-110499 | no | 2044.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting TRMT6, 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-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-4324 | 99.04 | 70.14 | 1569 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 35.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- TRMT6 was upregulated in HCC tissues, and higher TRMT6 expression levels was correlated with reduced OS and RFS in patients with primary HCC. (PMID:31128068)
- N(1)-methyladenosine methylation in tRNA drives liver tumourigenesis by regulating cholesterol metabolism. (PMID:34728628)
- TRMT6 gene rs236110 C > A polymorphism increases the risk of Wilms tumor. (PMID:37473973)
- Identification of hepatoblastoma susceptibility loci in the TRMT6 gene from a seven-center case-control study. (PMID:37850543)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trmt6 | ENSDARG00000042344 |
| mus_musculus | Trmt6 | ENSMUSG00000037376 |
| rattus_norvegicus | Trmt6 | ENSRNOG00000021270 |
| drosophila_melanogaster | Trmt6 | FBGN0031832 |
| caenorhabditis_elegans | trmt-6 | WBGENE00014120 |
Protein
Protein identifiers
tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 — Q9UJA5 (reviewed: Q9UJA5)
Alternative names: mRNA methyladenosine-N(1)-methyltransferase non-catalytic subunit TRM6, tRNA(m1A58)-methyltransferase subunit TRM6
All UniProt accessions (1): Q9UJA5
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-binding subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA. Together with the TRMT61A catalytic subunit, part of a mRNA N(1)-methyltransferase complex that mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries.
Subunit / interactions. Heterotetramer; composed of two copies of TRMT6 and two copies of TRMT61A.
Subcellular location. Nucleus.
Tissue specificity. Expressed in brain, liver, testis and ovary.
Similarity. Belongs to the TRM6/GCD10 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UJA5-1 | 1 | yes |
| Q9UJA5-2 | 2 | |
| Q9UJA5-3 | 3 | |
| Q9UJA5-4 | 4 |
RefSeq proteins (2): NP_001268396, NP_057023* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR017423 | TRM6 | Family |
Pfam: PF04189
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 |
UniProt features (59 total): strand 17, helix 17, binding site 7, region of interest 4, splice variant 4, modified residue 3, sequence variant 3, compositionally biased region 3, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5CCB | X-RAY DIFFRACTION | 2 |
| 5CCX | X-RAY DIFFRACTION | 2.1 |
| 5CD1 | X-RAY DIFFRACTION | 3.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UJA5-F1 | 80.02 | 0.61 |
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 (7): 175–182; 349; 377; 415–423; 434–441; 94–104; 145–154
Post-translational modifications (3): 107, 298, 305
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6782315 | tRNA modification in the nucleus and cytosol |
MSigDB gene sets: 136 (showing top):
E2F_Q4, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, E2F4DP1_01, GOBP_TRNA_METABOLIC_PROCESS, CHANDRAN_METASTASIS_DN, GOBP_RNA_METHYLATION, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, WEI_MYCN_TARGETS_WITH_E_BOX, E2F1DP1_01, E2F_Q3, E2F1DP2_01, GOBP_RNA_MODIFICATION, GOBP_TRNA_METHYLATION, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN
GO Biological Process (3): mRNA processing (GO:0006397), tRNA methylation (GO:0030488), tRNA processing (GO:0008033)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), tRNA (m1A) methyltransferase complex (GO:0031515)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| mRNA metabolic process | 1 |
| RNA methylation | 1 |
| tRNA modification | 1 |
| tRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| tRNA methyltransferase complex | 1 |
Protein interactions and networks
STRING
1988 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRMT6 | TRMT61A | Q96FX7 | 999 |
| TRMT6 | TRMT61B | Q9BVS5 | 918 |
| TRMT6 | TRMT10C | Q7L0Y3 | 850 |
| TRMT6 | ALKBH1 | Q13686 | 776 |
| TRMT6 | METTL1 | Q9UBP6 | 744 |
| TRMT6 | WDR4 | P57081 | 718 |
| TRMT6 | TRMT5 | Q32P41 | 718 |
| TRMT6 | TRMT112 | Q9UI30 | 718 |
| TRMT6 | TRMT11 | Q7Z4G4 | 712 |
| TRMT6 | NSUN2 | Q08J23 | 711 |
| TRMT6 | ALKBH3 | Q96Q83 | 709 |
| TRMT6 | FTSJ1 | Q9UET6 | 691 |
| TRMT6 | TRUB1 | Q8WWH5 | 676 |
| TRMT6 | TRMT10A | Q8TBZ6 | 661 |
| TRMT6 | ADAT3 | Q96EY9 | 645 |
IntAct
98 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SRP9 | SRP72 | psi-mi:“MI:0914”(association) | 0.730 |
| TRMT61A | TRMT6 | psi-mi:“MI:0915”(physical association) | 0.670 |
| USE1 | NBAS | psi-mi:“MI:0914”(association) | 0.640 |
| KLHL22 | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| TRMT6 | PPIA | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRMT6 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRMT6 | SETDB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRMT6 | KAT5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | TRMT6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRMT61A | ARHGEF11 | psi-mi:“MI:0914”(association) | 0.530 |
| PTGES3 | AIP | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL4 | TEFM | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT6 | FOXJ1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRMT6 | HHEX | psi-mi:“MI:0915”(physical association) | 0.370 |
| CKAP5 | TACC3 | psi-mi:“MI:0914”(association) | 0.350 |
| NETO2 | TIA1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (128): TRMT6 (Affinity Capture-MS), TRMT6 (Affinity Capture-MS), TRMT6 (Affinity Capture-MS), TRMT6 (Affinity Capture-MS), DDX5 (Co-fractionation), DNAJC17 (Co-fractionation), EIF2B1 (Co-fractionation), NHP2L1 (Co-fractionation), PUS1 (Co-fractionation), RDX (Co-fractionation), SNW1 (Co-fractionation), STK24 (Co-fractionation), TLN2 (Co-fractionation), TRMT6 (Co-fractionation), TRMT6 (Co-fractionation)
ESM2 similar proteins: A0A3Q1LSX9, A2APV2, A4IHK8, A8K855, A9JRL3, D3Z8X7, O00418, O08796, O35099, O60308, P55265, P70531, Q13905, Q1LX49, Q28CB1, Q3SXY8, Q3UFM5, Q4V8B2, Q5E9V1, Q5QNQ6, Q5R6Y9, Q5R9G1, Q5RHX6, Q62172, Q62796, Q640N2, Q66JG9, Q6DD21, Q6DFA1, Q6ZPF4, Q7Z699, Q7ZYB4, Q80V31, Q80V94, Q8CI95, Q8IVF7, Q8IWE4, Q8K0Q5, Q8K0V2, Q8K4M9
Diamond homologs: Q2T9V5, Q4WE58, Q54UB1, Q8CE96, Q9UJA5, Q2UJ66
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 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 |
|---|---|---|---|
| SRP-dependent cotranslational protein targeting to membrane | 7 | 9.5× | 4e-03 |
| Formation of a pool of free 40S subunits | 6 | 9.1× | 8e-03 |
| L13a-mediated translational silencing of Ceruloplasmin expression | 6 | 8.2× | 8e-03 |
| GTP hydrolysis and joining of the 60S ribosomal subunit | 6 | 8.1× | 8e-03 |
| Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) | 6 | 7.9× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 6 | 12.2× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1569 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:5938726:CCTAA:C | acceptor_loss | 1.0000 |
| 20:5938727:CTA:C | acceptor_loss | 1.0000 |
| 20:5941048:CGTA:C | donor_loss | 1.0000 |
| 20:5941049:GTACC:G | donor_loss | 1.0000 |
| 20:5941050:TA:T | donor_loss | 1.0000 |
| 20:5941051:ACC:A | donor_loss | 1.0000 |
| 20:5941052:CCTGA:C | donor_loss | 1.0000 |
| 20:5941136:GAGG:G | acceptor_gain | 1.0000 |
| 20:5941140:C:CC | acceptor_gain | 1.0000 |
| 20:5941341:TTAAA:T | acceptor_gain | 1.0000 |
| 20:5941346:C:CC | acceptor_gain | 1.0000 |
| 20:5941938:T:TA | donor_gain | 1.0000 |
| 20:5941950:CCCAT:C | donor_gain | 1.0000 |
| 20:5941973:G:C | donor_gain | 1.0000 |
| 20:5942421:T:TA | donor_gain | 1.0000 |
| 20:5942426:A:AC | donor_gain | 1.0000 |
| 20:5942427:C:CC | donor_gain | 1.0000 |
| 20:5942430:AAT:A | donor_gain | 1.0000 |
| 20:5942443:T:TA | donor_gain | 1.0000 |
| 20:5942455:AGGCC:A | donor_gain | 1.0000 |
| 20:5942489:T:TA | donor_gain | 1.0000 |
| 20:5942498:T:A | donor_gain | 1.0000 |
| 20:5943554:CTTA:C | donor_loss | 1.0000 |
| 20:5943556:TA:T | donor_loss | 1.0000 |
| 20:5943557:A:AC | donor_gain | 1.0000 |
| 20:5943557:ACCT:A | donor_gain | 1.0000 |
| 20:5943557:ACCTC:A | donor_gain | 1.0000 |
| 20:5943558:C:CC | donor_gain | 1.0000 |
| 20:5943558:C:CT | donor_loss | 1.0000 |
| 20:5943558:CCT:C | donor_gain | 1.0000 |
AlphaMissense
3276 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:5938708:G:C | H441D | 1.000 |
| 20:5944183:T:C | Y146C | 1.000 |
| 20:5944184:A:G | Y146H | 1.000 |
| 20:5944206:C:A | K138N | 1.000 |
| 20:5944206:C:G | K138N | 1.000 |
| 20:5944215:G:C | F135L | 1.000 |
| 20:5944215:G:T | F135L | 1.000 |
| 20:5944217:A:G | F135L | 1.000 |
| 20:5944237:A:G | L128S | 1.000 |
| 20:5944854:A:G | L106P | 1.000 |
| 20:5944859:C:A | Q104H | 1.000 |
| 20:5944859:C:G | Q104H | 1.000 |
| 20:5944887:C:G | R95P | 1.000 |
| 20:5938713:C:G | R439P | 0.999 |
| 20:5941062:T:A | R431S | 0.999 |
| 20:5941062:T:G | R431S | 0.999 |
| 20:5941063:C:A | R431I | 0.999 |
| 20:5941063:C:G | R431T | 0.999 |
| 20:5944170:C:A | K150N | 0.999 |
| 20:5944170:C:G | K150N | 0.999 |
| 20:5944172:T:C | K150E | 0.999 |
| 20:5944183:T:G | Y146S | 0.999 |
| 20:5944184:A:C | Y146D | 0.999 |
| 20:5944185:T:A | K145N | 0.999 |
| 20:5944185:T:G | K145N | 0.999 |
| 20:5944186:T:A | K145I | 0.999 |
| 20:5944187:T:C | K145E | 0.999 |
| 20:5944191:T:A | Q143H | 0.999 |
| 20:5944191:T:G | Q143H | 0.999 |
| 20:5944195:G:T | A142D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000293469 (20:5949977 G>A), RS1000402164 (20:5949304 T>C), RS1000696039 (20:5938532 G>A,C), RS1000922968 (20:5943797 T>C,G), RS1001425755 (20:5940761 G>A,T), RS1002243875 (20:5945106 G>T), RS1002343414 (20:5950566 G>T), RS1002418498 (20:5951055 A>G), RS1002504259 (20:5947732 C>A,G,T), RS1002856021 (20:5948198 G>A,C), RS1002967038 (20:5948037 T>C), RS1003562129 (20:5949248 C>T), RS1003648188 (20:5949127 T>G), RS1003734138 (20:5942548 A>G,T), RS1003855333 (20:5949930 G>A)
Disease associations
OMIM: gene MIM:620886 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000403_1 | Menarche and menopause (age at onset) | 1.000000e-21 |
| GCST009158_7 | Uterine fibroids | 9.000000e-10 |
| GCST012316_9 | ghrelin levels | 7.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004704 | age at menopause |
| EFO:0600001 | ghrelin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Resveratrol | affects cotreatment, increases expression | 2 |
| Air Pollutants | increases oxidation, decreases expression, affects cotreatment, increases abundance | 2 |
| Valproic Acid | increases expression, decreases methylation | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| ICG 001 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Benzo(a)pyrene | increases mutagenesis | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Nickel | increases expression | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): uterine corpus leiomyoma