COQ3
gene geneOn this page
Also known as bA9819.1
Summary
COQ3 (coenzyme Q3, methyltransferase, HGNC:18175) is a protein-coding gene on chromosome 6q16.2, encoding Ubiquinone biosynthesis O-methyltransferase, mitochondrial (Q9NZJ6). O-methyltransferase required for two non-consecutive steps during ubiquinone biosynthesis.
Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.
Source: NCBI Gene 51805 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 70 total — 1 likely-pathogenic
- MANE Select transcript:
NM_017421
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18175 |
| Approved symbol | COQ3 |
| Name | coenzyme Q3, methyltransferase |
| Location | 6q16.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA9819.1 |
| Ensembl gene | ENSG00000132423 |
| Ensembl biotype | protein_coding |
| OMIM | 605196 |
| Entrez | 51805 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000254759, ENST00000369240, ENST00000479163, ENST00000876256, ENST00000876257, ENST00000926084, ENST00000961104
RefSeq mRNA: 1 — MANE Select: NM_017421
NM_017421
CCDS: CCDS5042
Canonical transcript exons
ENST00000254759 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000904085 | 99369401 | 99369820 |
| ENSE00000904086 | 99371428 | 99371587 |
| ENSE00000904087 | 99375940 | 99376182 |
| ENSE00003463911 | 99394074 | 99394195 |
| ENSE00003612461 | 99383698 | 99383824 |
| ENSE00003653990 | 99380189 | 99380341 |
| ENSE00003730517 | 99377386 | 99377485 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 93.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5894 / max 66.4794, expressed in 1558 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74793 | 4.5894 | 1558 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| biceps brachii | UBERON:0001507 | 93.19 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.90 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.54 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 92.13 | gold quality |
| quadriceps femoris | UBERON:0001377 | 91.79 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.47 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.35 | gold quality |
| triceps brachii | UBERON:0001509 | 91.31 | gold quality |
| deltoid | UBERON:0001476 | 90.22 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.17 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.11 | gold quality |
| apex of heart | UBERON:0002098 | 89.73 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.70 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 89.28 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.12 | gold quality |
| muscle organ | UBERON:0001630 | 89.03 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 89.03 | gold quality |
| diaphragm | UBERON:0001103 | 89.02 | silver quality |
| heart | UBERON:0000948 | 88.55 | gold quality |
| muscle of leg | UBERON:0001383 | 88.20 | gold quality |
| muscle tissue | UBERON:0002385 | 88.12 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.86 | gold quality |
| myocardium | UBERON:0002349 | 87.86 | gold quality |
| right atrium auricular region | UBERON:0006631 | 87.73 | gold quality |
| cortical plate | UBERON:0005343 | 87.70 | gold quality |
| gluteal muscle | UBERON:0002000 | 87.48 | silver quality |
| cardiac atrium | UBERON:0002081 | 87.27 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.24 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.04 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.87 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting COQ3, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-129-1-3P | 98.86 | 68.41 | 779 |
| HSA-MIR-129-2-3P | 98.86 | 68.41 | 779 |
| HSA-MIR-625-3P | 97.32 | 66.55 | 554 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | coq3 | ENSDARG00000069857 |
| mus_musculus | Coq3 | ENSMUSG00000028247 |
| rattus_norvegicus | Coq3 | ENSRNOG00000009974 |
| drosophila_melanogaster | Coq3 | FBGN0032922 |
| caenorhabditis_elegans | WBGENE00000763 |
Protein
Protein identifiers
Ubiquinone biosynthesis O-methyltransferase, mitochondrial — Q9NZJ6 (reviewed: Q9NZJ6)
Alternative names: 3-demethylubiquinol 3-O-methyltransferase, 3-demethylubiquinone 3-O-methyltransferase, Polyprenyldihydroxybenzoate methyltransferase
All UniProt accessions (2): Q9NZJ6, F6WGP0
UniProt curated annotations — full annotation on UniProt →
Function. O-methyltransferase required for two non-consecutive steps during ubiquinone biosynthesis. Catalyzes the 2 O-methylation of 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoic acid into 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid. Also catalyzes the last step of ubiquinone biosynthesis by mediating methylation of 3-demethylubiquinone into ubiquinone. Also able to mediate the methylation of 3-demethylubiquinol-10 into ubiquinol-10.
Subunit / interactions. Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.
Subcellular location. Mitochondrion inner membrane.
Pathway. Cofactor biosynthesis; ubiquinone biosynthesis.
Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. UbiG/COQ3 family.
RefSeq proteins (1): NP_059117* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010233 | UbiG_MeTrfase | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
Pfam: PF13489
Enzyme classification (BRENDA):
- EC 2.1.1.114 — polyprenyldihydroxybenzoate methyltransferase (BRENDA: 6 organisms, 10 substrates, 0 inhibitors, 0 Km, 0 kcat entries)
- EC 2.1.1.222 — 2-polyprenyl-6-hydroxyphenol methylase (BRENDA: 7 organisms, 12 substrates, 0 inhibitors, 0 Km, 0 kcat entries)
- EC 2.1.1.64 — 3-demethylubiquinol 3-O-methyltransferase (BRENDA: 5 organisms, 14 substrates, 0 inhibitors, 2 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| S-ADENOSYL-L-METHIONINE | 0.022 | 1 |
Catalyzed reactions (Rhea), 3 shown:
- 3-demethylubiquinol-10 + S-adenosyl-L-methionine = ubiquinol-10 + S-adenosyl-L-homocysteine + H(+) (RHEA:44412)
- 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoate + S-adenosyl-L-methionine = 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoate + S-adenosyl-L-homocysteine + H(+) (RHEA:44492)
- a 3-demethylubiquinone + S-adenosyl-L-methionine = a ubiquinone + S-adenosyl-L-homocysteine (RHEA:81215)
UniProt features (19 total): binding site 7, sequence conflict 4, modified residue 3, sequence variant 3, transit peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZJ6-F1 | 71.17 | 0.43 |
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): 124; 154; 175; 222; 223; 226; 227
Post-translational modifications (3): 149, 196, 143
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2142789 | Ubiquinol biosynthesis |
MSigDB gene sets: 151 (showing top):
HORIUCHI_WTAP_TARGETS_DN, TGCGCANK_UNKNOWN, GOBP_POLYOL_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_KETONE_METABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_KETONE_BIOSYNTHETIC_PROCESS, WONG_MITOCHONDRIA_GENE_MODULE, GOBP_METHYLATION, GOBP_QUINONE_METABOLIC_PROCESS
GO Biological Process (3): glycerol metabolic process (GO:0006071), ubiquinone biosynthetic process (GO:0006744), methylation (GO:0032259)
GO Molecular Function (7): O-methyltransferase activity (GO:0008171), polyprenyldihydroxybenzoate methyltransferase activity (GO:0010420), 3-demethylubiquinol 3-O-methyltransferase activity (GO:0061542), 3-demethylubiquinone 3-O-methyltransferase activity (GO:0120537), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), extrinsic component of mitochondrial inner membrane (GO:0031314), ubiquinone biosynthesis complex (GO:0110142), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of cofactors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ubiquinone biosynthetic process | 3 |
| S-adenosylmethionine-dependent methyltransferase activity | 3 |
| O-methyltransferase activity | 2 |
| carbohydrate metabolic process | 1 |
| polyol metabolic process | 1 |
| ubiquinone metabolic process | 1 |
| quinone biosynthetic process | 1 |
| metabolic process | 1 |
| methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| mitochondrial inner membrane | 1 |
| extrinsic component of organelle membrane | 1 |
| catalytic complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2912 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COQ3 | COQ9 | O75208 | 984 |
| COQ3 | COQ5 | Q5HYK3 | 982 |
| COQ3 | COQ6 | Q9Y2Z9 | 976 |
| COQ3 | COQ7 | Q99807 | 961 |
| COQ3 | COQ4 | Q9Y3A0 | 953 |
| COQ3 | COQ8A | Q8NI60 | 877 |
| COQ3 | PDSS1 | Q5T2R2 | 864 |
| COQ3 | COQ8B | Q96D53 | 858 |
| COQ3 | COQ2 | Q96H96 | 856 |
| COQ3 | PDSS2 | Q86YH6 | 794 |
| COQ3 | COQ10A | Q96MF6 | 728 |
| COQ3 | NDUFA9 | Q16795 | 693 |
| COQ3 | COQ10B | Q9H8M1 | 679 |
| COQ3 | ADCK2 | Q7Z695 | 638 |
| COQ3 | ADCK1 | Q86TW2 | 619 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COQ8A | COQ9 | psi-mi:“MI:0914”(association) | 0.670 |
| COQ3 | COQ7 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| COQ7 | COQ3 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| COQ9 | COQ5 | psi-mi:“MI:0915”(physical association) | 0.590 |
| COQ7 | COQ9 | psi-mi:“MI:0915”(physical association) | 0.590 |
| COQ5 | COQ9 | psi-mi:“MI:0914”(association) | 0.590 |
| PTPN9 | COQ3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNX1 | COQ3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTPA | COQ3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COQ3 | NDRG4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COQ3 | COQ4 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| COQ3 | COQ5 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| COQ3 | COQ6 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| COQ4 | COQ3 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| COQ5 | COQ3 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| COQ6 | COQ3 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| COQ4 | COQ5 | psi-mi:“MI:0914”(association) | 0.520 |
| COQ3 | NFS1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| COQ3 | COQ9 | psi-mi:“MI:0914”(association) | 0.500 |
| COQ4 | COQ9 | psi-mi:“MI:0914”(association) | 0.500 |
| COQ3 | VPS28 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECE1 | COQ3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COQ5 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ3 | COQ8B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (62): VPS28 (Affinity Capture-MS), COQ3 (Co-fractionation), COQ3 (Co-fractionation), NOVA1 (Co-fractionation), COQ6 (Reconstituted Complex), COQ3 (Reconstituted Complex), COQ3 (Affinity Capture-MS), COQ3 (Affinity Capture-MS), COQ3 (Affinity Capture-MS), COQ3 (Affinity Capture-MS), NFS1 (Affinity Capture-MS), COQ9 (Affinity Capture-MS), COQ3 (Affinity Capture-MS), COQ5 (Affinity Capture-MS), COQ6 (Affinity Capture-MS)
ESM2 similar proteins: A0A067XMT3, A0A075D5I4, A0A075D654, A0A075D657, A0A075D6M1, A0A1B4XBK1, A0A1B5L8S2, A0A1D6NER6, A0A1W5SKE9, A0A2I2F2M2, A0A411KUP5, A0A482NB13, A0A8X8M4T9, A0A8X8M4W6, A0A8X8M501, A0A8X8M505, A2XMJ1, C8YTM5, F4J2K2, F4K2A1, H2E7T5, H2E7T6, H2E7T7, H2E7T8, H2E7T9, H2E7U0, O49196, O81027, P74388, P9WEU0, Q03606, Q05763, Q0CXW9, Q0UI02, Q0WVD6, Q1JPN0, Q38932, Q3T131, Q6ZIK0, Q7X7H9
Diamond homologs: A1K8Q1, A1U3K1, A1URT5, A3PNM3, A4JCG7, A4SM99, A4VLX7, A4WW91, A4YKT6, A5VSK3, A5W7G3, A6UCF6, A6V2Q4, A6WXQ0, A7HTX8, A8HVC4, A8LQ43, A9ADW3, A9IQF4, A9M8K8, B0CIC6, B0KTX4, B0SW81, B0U3W1, B0UAV0, B1J5G4, B1Y2L3, B1YV26, B2I705, B2JEZ6, B2S828, B3H0C8, B3PP83, B3QCF3, B5ZRR7, B7V9J5, B8EI29, B8H209, B8IUB0, B9JB78
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| COQ3 | “form complex” | “CoQ biosynthetic complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 22 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ubiquinone biosynthetic process | 7 | 327.7× | 3e-15 |
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 | 1 |
| Uncertain significance | 49 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1807771 | GRCh37/hg19 6q16.1-16.2(chr6:97904220-99964434)x1 | Likely pathogenic |
SpliceAI
1532 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:99371426:A:AC | donor_gain | 1.0000 |
| 6:99371427:C:CC | donor_gain | 1.0000 |
| 6:99375938:A:AC | donor_gain | 1.0000 |
| 6:99375939:C:CC | donor_gain | 1.0000 |
| 6:99369817:CCAT:C | acceptor_gain | 0.9900 |
| 6:99369818:CAT:C | acceptor_gain | 0.9900 |
| 6:99369818:CATC:C | acceptor_gain | 0.9900 |
| 6:99371420:ATACT:A | donor_loss | 0.9900 |
| 6:99371421:TACTT:T | donor_loss | 0.9900 |
| 6:99371422:ACTTA:A | donor_loss | 0.9900 |
| 6:99371423:CTT:C | donor_loss | 0.9900 |
| 6:99371424:TTAC:T | donor_loss | 0.9900 |
| 6:99371425:TACTT:T | donor_loss | 0.9900 |
| 6:99371427:CTTGA:C | donor_gain | 0.9900 |
| 6:99375941:TTTA:T | donor_gain | 0.9900 |
| 6:99375983:A:C | donor_gain | 0.9900 |
| 6:99376001:T:TA | donor_gain | 0.9900 |
| 6:99377384:A:AC | donor_gain | 0.9900 |
| 6:99377385:C:CC | donor_gain | 0.9900 |
| 6:99377485:CCT:C | acceptor_gain | 0.9900 |
| 6:99377491:T:C | acceptor_gain | 0.9900 |
| 6:99377491:T:TC | acceptor_gain | 0.9900 |
| 6:99380240:C:CA | donor_gain | 0.9900 |
| 6:99383821:TAAA:T | acceptor_gain | 0.9900 |
| 6:99383825:C:CC | acceptor_gain | 0.9900 |
| 6:99369821:C:CA | acceptor_loss | 0.9800 |
| 6:99369821:C:CC | acceptor_gain | 0.9800 |
| 6:99371427:CTT:C | donor_gain | 0.9800 |
| 6:99371583:CCGGG:C | acceptor_gain | 0.9800 |
| 6:99371584:CGGGC:C | acceptor_gain | 0.9800 |
AlphaMissense
2394 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:99376172:C:G | R166P | 0.989 |
| 6:99380203:C:A | R124S | 0.987 |
| 6:99380203:C:G | R124S | 0.987 |
| 6:99380251:C:A | W108C | 0.987 |
| 6:99380251:C:G | W108C | 0.987 |
| 6:99376151:C:T | G173E | 0.985 |
| 6:99380256:A:G | W107R | 0.984 |
| 6:99380256:A:T | W107R | 0.984 |
| 6:99369731:C:G | A327P | 0.982 |
| 6:99377409:A:G | C155R | 0.982 |
| 6:99376013:A:T | V219D | 0.980 |
| 6:99376157:A:T | V171D | 0.980 |
| 6:99380204:C:G | R124T | 0.980 |
| 6:99377407:A:C | C155W | 0.979 |
| 6:99380253:A:G | W108R | 0.979 |
| 6:99380253:A:T | W108R | 0.979 |
| 6:99376110:G:C | H187D | 0.978 |
| 6:99376118:G:T | A184E | 0.977 |
| 6:99377399:C:T | G158E | 0.977 |
| 6:99369730:G:T | A327E | 0.976 |
| 6:99380212:A:C | N121K | 0.976 |
| 6:99380212:A:T | N121K | 0.976 |
| 6:99371448:A:G | L290P | 0.975 |
| 6:99377411:C:T | G154D | 0.975 |
| 6:99376001:T:A | E223V | 0.974 |
| 6:99377420:A:G | L151P | 0.974 |
| 6:99380254:C:A | W107C | 0.974 |
| 6:99380254:C:G | W107C | 0.974 |
| 6:99369764:A:G | W316R | 0.973 |
| 6:99369764:A:T | W316R | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000078027 (6:99371394 C>T), RS1000131477 (6:99370953 A>C), RS1000228330 (6:99389272 C>A,T), RS1000381799 (6:99395205 T>C,G), RS1000452915 (6:99375721 A>G), RS1000578907 (6:99389559 C>A), RS1000640560 (6:99383270 A>G), RS1000646030 (6:99395448 A>T), RS1000852580 (6:99389411 C>T), RS1000881938 (6:99382240 T>C), RS1000916744 (6:99376927 C>A,T), RS1001089271 (6:99369634 G>C), RS1001141652 (6:99369281 A>C), RS1001245258 (6:99384544 T>C), RS1001253539 (6:99390464 G>T)
Disease associations
OMIM: gene MIM:605196 | 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 |
|---|---|---|
| GCST006922_14 | Regular attendance at a religious group | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009592 | social interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11548336 | COQ3 | 0.00 | 0 |
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| Cadmium Chloride | increases expression, decreases expression, increases abundance | 2 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| quercitrin | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Oxygen | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, affects cotreatment, decreases expression | 1 |
| Quercetin | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1UA | HAP1 COQ3 (-) | Cancer cell line | Male |
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.