QTGAL
gene geneOn this page
Also known as B3GNT8
Summary
QTGAL (queuosine-tRNA galactosyltransferase, HGNC:21727) is a protein-coding gene on chromosome 17q25.3, encoding Queuosine-tRNA galactosyltransferase (Q67FW5). Glycosyltransferase that specifically catalyzes galactosylation of cytoplasmic tRNA(Tyr) modified with queuosine at position 34 (queuosine(34)).
Enables tRNA-queuosine(34) galactosyltransferase activity. Involved in regulation of translation and tRNA modification. Is active in cytoplasm.
Source: NCBI Gene 146712 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 242 total — 1 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_001009905
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21727 |
| Approved symbol | QTGAL |
| Name | queuosine-tRNA galactosyltransferase |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | B3GNT8 |
| Ensembl gene | ENSG00000175711 |
| Ensembl biotype | protein_coding |
| OMIM | 615337 |
| Entrez | 146712 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000320865, ENST00000570947, ENST00000571218, ENST00000571301, ENST00000571394, ENST00000571954, ENST00000572267, ENST00000572977, ENST00000573363, ENST00000573629, ENST00000576599, ENST00000905888, ENST00000905889, ENST00000905890, ENST00000905891, ENST00000905892, ENST00000915988
RefSeq mRNA: 4 — MANE Select: NM_001009905
NM_001009905, NM_001320742, NM_001320743, NM_001421881
CCDS: CCDS32778, CCDS82232
Canonical transcript exons
ENST00000320865 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001463771 | 83051737 | 83051770 |
| ENSE00003485394 | 82957181 | 82957249 |
| ENSE00003512054 | 82956695 | 82956769 |
| ENSE00003562724 | 82946879 | 82946983 |
| ENSE00003565858 | 83048669 | 83048785 |
| ENSE00003594199 | 82965651 | 82965746 |
| ENSE00003597813 | 82961057 | 82961181 |
| ENSE00003608638 | 82957359 | 82957494 |
| ENSE00003621251 | 83048471 | 83048570 |
| ENSE00003621983 | 83035035 | 83035099 |
| ENSE00003652301 | 83014454 | 83014519 |
| ENSE00003666709 | 83005115 | 83005210 |
| ENSE00003922562 | 82942149 | 82944049 |
Expression profiles
Bgee: expression breadth ubiquitous, 135 present calls, max score 90.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0312 / max 151.2561, expressed in 1451 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 169014 | 2.2227 | 1242 |
| 169011 | 1.1822 | 301 |
| 169013 | 0.3301 | 145 |
| 169012 | 0.1785 | 80 |
| 169010 | 0.1178 | 54 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 90.45 | gold quality |
| granulocyte | CL:0000094 | 84.72 | gold quality |
| right uterine tube | UBERON:0001302 | 84.38 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.13 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.81 | gold quality |
| monocyte | CL:0000576 | 83.52 | gold quality |
| thymus | UBERON:0002370 | 83.40 | silver quality |
| leukocyte | CL:0000738 | 83.17 | gold quality |
| bone marrow | UBERON:0002371 | 82.75 | gold quality |
| cortical plate | UBERON:0005343 | 82.27 | gold quality |
| right ovary | UBERON:0002118 | 82.02 | gold quality |
| skin of leg | UBERON:0001511 | 81.99 | gold quality |
| zone of skin | UBERON:0000014 | 81.66 | gold quality |
| skin of abdomen | UBERON:0001416 | 81.25 | gold quality |
| sural nerve | UBERON:0015488 | 81.21 | gold quality |
| left ovary | UBERON:0002119 | 81.19 | gold quality |
| spleen | UBERON:0002106 | 80.86 | gold quality |
| ovary | UBERON:0000992 | 80.70 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 80.70 | gold quality |
| left uterine tube | UBERON:0001303 | 80.39 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 80.33 | gold quality |
| cerebellum | UBERON:0002037 | 80.20 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 80.20 | gold quality |
| cerebellar cortex | UBERON:0002129 | 80.18 | gold quality |
| endocervix | UBERON:0000458 | 80.15 | gold quality |
| ectocervix | UBERON:0012249 | 79.40 | gold quality |
| body of uterus | UBERON:0009853 | 79.32 | gold quality |
| pituitary gland | UBERON:0000007 | 79.27 | gold quality |
| primary visual cortex | UBERON:0002436 | 79.25 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.14 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.95 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting QTGAL, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-657 | 99.48 | 66.02 | 848 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-6839-3P | 99.39 | 68.86 | 1301 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-6088 | 99.29 | 68.45 | 1284 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
Literature-anchored findings (GeneRIF, showing 1)
- beta3-GnTL1 is similar to beta1, 3-N-acetylglucosaminyltransferase (PMID:15560372)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | b3gntl1 | ENSDARG00000043431 |
| mus_musculus | B3gntl1 | ENSMUSG00000046605 |
| rattus_norvegicus | B3gntl1 | ENSRNOG00000049724 |
| caenorhabditis_elegans | F13G3.6 | WBGENE00008766 |
Protein
Protein identifiers
Queuosine-tRNA galactosyltransferase — Q67FW5 (reviewed: Q67FW5)
Alternative names: Beta-1,3-N-acetylglucosaminyltransferase 8, UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1
All UniProt accessions (4): Q67FW5, I3L1A1, I3L232, I3L4B6
UniProt curated annotations — full annotation on UniProt →
Function. Glycosyltransferase that specifically catalyzes galactosylation of cytoplasmic tRNA(Tyr) modified with queuosine at position 34 (queuosine(34)). Galactosylates the cyclopentene hydroxyl group of queuosine(34) in tRNA(Tyr) to form galactosyl-queuosine(34). Mannosylation of queuosine(34) in tRNA(Tyr) is required to slow-down elongation at cognate codons UAC and suppress stop codon readthrough, thereby regulating protein translation.
Subcellular location. Cytoplasm.
Tissue specificity. Widely expressed. Highly expressed in adult pancreas. Expressed at moderate level in kidney, spleen, thymus, prostate, testis and ovary. Weakly expressed in small intestine, colon, peripheral blood leukocyte and liver.
Similarity. Belongs to the glycosyltransferase 2 family.
RefSeq proteins (4): NP_001009905, NP_001307671, NP_001307672, NP_001408810 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001173 | Glyco_trans_2-like | Domain |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
Pfam: PF00535
Catalyzed reactions (Rhea), 1 shown:
- queuosine(34) in tRNA(Tyr) + UDP-alpha-D-galactose = O-5’’-beta-D-galactosylqueuosine(34) in tRNA(Tyr) + UDP + H(+) (RHEA:78231)
UniProt features (2 total): chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q67FW5-F1 | 96.05 | 0.92 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-913709 | O-linked glycosylation of mucins |
MSigDB gene sets: 230 (showing top):
GOBP_TRNA_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_RNA_MODIFICATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMINOGLYCAN_METABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, BOYLAN_MULTIPLE_MYELOMA_C_CLUSTER_UP, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_TRNA_PROCESSING, GOBP_TRNA_MODIFICATION, GOBP_REGULATION_OF_TRANSLATION, GOMF_HEXOSYLTRANSFERASE_ACTIVITY
GO Biological Process (3): tRNA wobble guanine modification (GO:0002099), tRNA modification (GO:0006400), regulation of translation (GO:0006417)
GO Molecular Function (4): tRNA-queuosine(34) galactosyltransferase activity (GO:0141125), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), hexosyltransferase activity (GO:0016758)
GO Cellular Component (1): cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| O-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tRNA wobble base modification | 1 |
| tRNA processing | 1 |
| RNA modification | 1 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| UDP-galactosyltransferase activity | 1 |
| catalytic activity, acting on a tRNA | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| glycosyltransferase activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
324 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| QTGAL | TBCD | Q9BTW9 | 523 |
| QTGAL | FN3KRP | Q9HA64 | 461 |
| QTGAL | METRNL | Q641Q3 | 455 |
| QTGAL | FARSA | Q9Y285 | 439 |
| QTGAL | ALG3 | Q92685 | 411 |
| QTGAL | NOC4L | Q9BVI4 | 397 |
| QTGAL | TRNAU1AP | Q9NX07 | 383 |
| QTGAL | DOK6 | Q6PKX4 | 370 |
| QTGAL | NKAIN2 | Q5VXU1 | 360 |
| QTGAL | FGD5 | Q6ZNL6 | 344 |
| QTGAL | EFHB | Q8N7U6 | 339 |
| QTGAL | IPO4 | Q8TEX9 | 339 |
| QTGAL | PUS7 | Q96PZ0 | 339 |
| QTGAL | TACSTD2 | P09758 | 327 |
| QTGAL | CCT4 | P50991 | 325 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| IMPDH1 | LCMT2 | psi-mi:“MI:0914”(association) | 0.350 |
| FTL | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| IMPDH1 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| MPP3 | B3GNTL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (5): B3GNTL1 (Affinity Capture-MS), B3GNTL1 (Affinity Capture-RNA), B3GNTL1 (Affinity Capture-MS), B3GNTL1 (Affinity Capture-MS), B3GNTL1 (Affinity Capture-RNA)
ESM2 similar proteins: A2VE14, A5PLN9, B1WC68, D3Z7P3, O54865, O89050, O94925, P13264, P16068, P20595, P38024, P51583, P97834, Q02153, Q0VCB2, Q0VCJ8, Q13042, Q13098, Q3TIR1, Q4R4U1, Q4ZHR9, Q5F450, Q5M887, Q5NVN7, Q5R5F8, Q5RB35, Q5RB59, Q5RBN9, Q5RKN4, Q5ZJB7, Q5ZMH6, Q67FW5, Q6AXQ0, Q6NRT5, Q86TJ2, Q8R349, Q8VH37, Q91YQ7, Q99LD4, Q99PV3
Diamond homologs: A0A0H2URH7, A0A0H3JPC6, A0A0H3JVA1, A1KMV1, A5U6W5, B5L3F2, D4GYG7, D4GYH2, E0U4V7, H2K893, O06483, O32268, P0A5A0, P26401, P47271, P74165, P75086, P9WMX6, P9WMX7, Q07755, Q077R2, Q0P9C6, Q15JF5, Q46632, Q48214, Q48215, Q4V9J0, Q54J42, Q57022, Q67FW5, Q6GV29, Q7BLV3, Q8L0V4, Q8U4M3, Q9CMP0, Q9DB25, Q9LM93, Q9Y673, A0A0H2UR96, A0A0H3JNB0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
242 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 160 |
| Likely benign | 30 |
| Benign | 15 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3248403 | NC_000019.9:g.(?41916522)(41932683_?)del | Pathogenic |
| 148281 | GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1 | Likely pathogenic |
| 1707631 | GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3 | Likely pathogenic |
SpliceAI
4403 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:82957354:CTCA:C | donor_loss | 1.0000 |
| 17:82957355:TCACC:T | donor_loss | 1.0000 |
| 17:82957356:CACCT:C | donor_loss | 1.0000 |
| 17:82957357:A:AC | donor_gain | 1.0000 |
| 17:82957357:AC:A | donor_gain | 1.0000 |
| 17:82957357:ACC:A | donor_loss | 1.0000 |
| 17:82957358:C:CC | donor_gain | 1.0000 |
| 17:82957358:CC:C | donor_gain | 1.0000 |
| 17:82957358:CCTTG:C | donor_gain | 1.0000 |
| 17:82957491:CGTC:C | acceptor_gain | 1.0000 |
| 17:82957493:TC:T | acceptor_gain | 1.0000 |
| 17:82957494:CC:C | acceptor_gain | 1.0000 |
| 17:82957495:C:CC | acceptor_gain | 1.0000 |
| 17:82957495:CTGCG:C | acceptor_loss | 1.0000 |
| 17:82957496:T:C | acceptor_loss | 1.0000 |
| 17:82957499:G:T | acceptor_gain | 1.0000 |
| 17:82961053:TCACT:T | donor_loss | 1.0000 |
| 17:82961054:CA:C | donor_loss | 1.0000 |
| 17:82961055:A:AC | donor_gain | 1.0000 |
| 17:82961056:C:CT | donor_gain | 1.0000 |
| 17:82961056:C:T | donor_loss | 1.0000 |
| 17:82961056:CT:C | donor_gain | 1.0000 |
| 17:82961178:CGCC:C | acceptor_gain | 1.0000 |
| 17:82961179:GCCC:G | acceptor_loss | 1.0000 |
| 17:82961180:CC:C | acceptor_gain | 1.0000 |
| 17:82961180:CCCTG:C | acceptor_loss | 1.0000 |
| 17:82961181:CC:C | acceptor_gain | 1.0000 |
| 17:82961181:CCTGC:C | acceptor_loss | 1.0000 |
| 17:82961183:T:A | acceptor_loss | 1.0000 |
| 17:83014448:ACTT:A | donor_loss | 1.0000 |
AlphaMissense
2371 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:83035065:G:C | S104R | 0.990 |
| 17:83035065:G:T | S104R | 0.990 |
| 17:83035067:T:G | S104R | 0.990 |
| 17:82965707:A:G | W182R | 0.989 |
| 17:82965707:A:T | W182R | 0.989 |
| 17:82957421:A:G | W267R | 0.985 |
| 17:82957421:A:T | W267R | 0.985 |
| 17:83035086:T:A | K97N | 0.984 |
| 17:83035086:T:G | K97N | 0.984 |
| 17:83035049:A:G | C110R | 0.980 |
| 17:82956704:G:C | C332W | 0.976 |
| 17:82961168:T:A | D205V | 0.976 |
| 17:82961168:T:G | D205A | 0.976 |
| 17:83035047:G:C | C110W | 0.976 |
| 17:82956711:A:T | V330D | 0.974 |
| 17:82961169:C:G | D205H | 0.973 |
| 17:83048672:A:C | S58R | 0.973 |
| 17:83048672:A:T | S58R | 0.973 |
| 17:83048674:T:G | S58R | 0.973 |
| 17:83048684:G:C | F54L | 0.973 |
| 17:83048684:G:T | F54L | 0.973 |
| 17:83048686:A:G | F54L | 0.973 |
| 17:82957403:C:A | G273W | 0.971 |
| 17:82957423:A:T | I266N | 0.971 |
| 17:83005201:A:G | C140R | 0.971 |
| 17:83035079:C:G | A100P | 0.971 |
| 17:83035044:A:C | F111L | 0.970 |
| 17:83035044:A:T | F111L | 0.970 |
| 17:83035046:A:G | F111L | 0.970 |
| 17:82956705:C:T | C332Y | 0.968 |
dbSNP variants (sampled 300 via entrez): RS1000033274 (17:82957982 C>T), RS1000051607 (17:83051181 G>A,C), RS1000085324 (17:82957814 G>A), RS1000105996 (17:83043263 C>T), RS1000129675 (17:83028925 C>A), RS1000139124 (17:82977195 C>T), RS1000162917 (17:82943656 G>C), RS1000199880 (17:83046853 A>C), RS1000211501 (17:82999619 A>G), RS1000242674 (17:82999455 C>G,T), RS1000256415 (17:82952440 C>T), RS1000291688 (17:83017227 G>A,C), RS1000319733 (17:83046982 C>A), RS1000368694 (17:82947945 C>T), RS1000394901 (17:82965816 T>C)
Disease associations
OMIM: gene MIM:615337 | disease phenotypes: MIM:248600
GenCC curated gene-disease
Mondo (1): maple syrup urine disease (MONDO:0009563)
Orphanet (2): Non-syndromic anorectal malformation (Orphanet:557), Maple syrup urine disease (Orphanet:511)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006417_9 | Plasma factor VII activating protease levels | 5.000000e-07 |
| GCST006585_79 | Blood protein levels | 1.000000e-238 |
| GCST008358_1 | Response to cognitive-behavioural therapy in anxiety and major depressive disorders | 2.000000e-06 |
| GCST008767_9 | Perceived intensity of sucrose | 3.000000e-06 |
| GCST010396_22 | Gut microbiota (bacterial taxa, hurdle binary method) | 2.000000e-06 |
| GCST012033_19 | Sleep (1/3-day periodicity) | 7.000000e-09 |
| GCST012226_824 | Waist circumference adjusted for body mass index | 1.000000e-08 |
| GCST012490_207 | Femur bone mineral density x serum urate levels interaction | 2.000000e-09 |
| GCST90002381_545 | Eosinophil count | 2.000000e-11 |
| GCST90002388_512 | Lymphocyte count | 1.000000e-10 |
| GCST90002399_255 | Neutrophil percentage of white cells | 5.000000e-11 |
| GCST90020029_49 | Waist circumference adjusted for body mass index | 2.000000e-08 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007820 | cognitive behavioural therapy |
| EFO:0007874 | gut microbiome measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004531 | urate measurement |
| EFO:0004842 | eosinophil count |
| EFO:0004587 | lymphocyte count |
| EFO:0007990 | neutrophil percentage of leukocytes |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008375 | Maple Syrup Urine Disease | C10.228.140.163.100.520; C16.320.565.100.608; C16.320.565.189.520; C18.452.132.100.520; C18.452.648.100.608; C18.452.648.189.520 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects cotreatment, increases methylation, decreases expression, increases expression | 4 |
| Benzo(a)pyrene | decreases expression, increases methylation | 4 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, increases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | decreases methylation, affects cotreatment | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation, decreases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Quercetin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Thiram | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01529060 | PHASE2/PHASE3 | COMPLETED | Phenylbutyrate Therapy for Maple Syrup Urine Disease |
| NCT03655223 | Not specified | ENROLLING_BY_INVITATION | Early Check: Expanded Screening in Newborns |
| NCT04248062 | Not specified | COMPLETED | Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism |
| NCT04602325 | Not specified | RECRUITING | Systemic Biomarkers of Brain Injury From Hyperammonemia |
| NCT04828863 | Not specified | COMPLETED | Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD) |
| NCT05051657 | Not specified | COMPLETED | Evaluation of the Express Plus Range |
| NCT05687474 | Not specified | COMPLETED | Baby Detect : Genomic Newborn Screening |
| NCT05910151 | Not specified | UNKNOWN | Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan |
| NCT06298292 | Not specified | NOT_YET_RECRUITING | Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies |
| NCT06581991 | Not specified | NOT_YET_RECRUITING | Liquid Valine and Isoleucine in Maple Syrup Urine Disease |
| NCT06664840 | Not specified | NOT_YET_RECRUITING | MyRareDiet A Novel Diet Tracking Tool |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): maple syrup urine disease