MOXD1
gene geneOn this page
Also known as DKFZP564G202MOXdJ248E1.1
Summary
MOXD1 (monooxygenase DBH like 1, HGNC:21063) is a protein-coding gene on chromosome 6q23.2, encoding DBH-like monooxygenase protein 1 (Q6UVY6).
Predicted to enable copper ion binding activity and dopamine beta-monooxygenase activity. Predicted to be involved in dopamine catabolic process; norepinephrine biosynthetic process; and octopamine biosynthetic process. Part of endoplasmic reticulum membrane.
Source: NCBI Gene 26002 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 101 total
- MANE Select transcript:
NM_015529
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21063 |
| Approved symbol | MOXD1 |
| Name | monooxygenase DBH like 1 |
| Location | 6q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564G202, MOX, dJ248E1.1 |
| Ensembl gene | ENSG00000079931 |
| Ensembl biotype | protein_coding |
| OMIM | 609000 |
| Entrez | 26002 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000336749, ENST00000367963, ENST00000392401, ENST00000489128, ENST00000897946, ENST00000897947, ENST00000897948, ENST00000897949, ENST00000940885, ENST00000940886, ENST00000940887
RefSeq mRNA: 1 — MANE Select: NM_015529
NM_015529
CCDS: CCDS5152
Canonical transcript exons
ENST00000367963 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000763967 | 132328013 | 132328115 |
| ENSE00000798735 | 132297787 | 132297955 |
| ENSE00000798736 | 132315635 | 132315777 |
| ENSE00000919221 | 132372830 | 132372997 |
| ENSE00001014944 | 132372608 | 132372691 |
| ENSE00001014945 | 132374631 | 132374777 |
| ENSE00001014946 | 132328415 | 132328594 |
| ENSE00001446002 | 132296055 | 132297317 |
| ENSE00001906046 | 132401163 | 132401475 |
| ENSE00003491641 | 132323931 | 132324097 |
| ENSE00003514003 | 132322679 | 132322870 |
| ENSE00003581619 | 132320629 | 132320688 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 98.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4273 / max 719.4897, expressed in 1078 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 75593 | 20.0249 | 1069 |
| 75591 | 1.1606 | 530 |
| 75592 | 0.2418 | 130 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 98.31 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.69 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.04 | gold quality |
| periodontal ligament | UBERON:0008266 | 92.38 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.67 | gold quality |
| gall bladder | UBERON:0002110 | 91.34 | gold quality |
| body of uterus | UBERON:0009853 | 90.92 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.43 | gold quality |
| endometrium | UBERON:0001295 | 88.85 | gold quality |
| mucosa of stomach | UBERON:0001199 | 88.57 | gold quality |
| myometrium | UBERON:0001296 | 88.49 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.87 | gold quality |
| cauda epididymis | UBERON:0004360 | 87.83 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.73 | gold quality |
| uterus | UBERON:0000995 | 87.16 | gold quality |
| right adrenal gland | UBERON:0001233 | 86.79 | gold quality |
| adrenal cortex | UBERON:0001235 | 86.78 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.78 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 86.69 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 86.57 | gold quality |
| esophagus | UBERON:0001043 | 86.54 | gold quality |
| upper lobe of lung | UBERON:0008948 | 86.47 | gold quality |
| lower esophagus | UBERON:0013473 | 86.16 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.13 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 86.11 | gold quality |
| adrenal gland | UBERON:0002369 | 85.94 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.62 | gold quality |
| embryo | UBERON:0000922 | 85.04 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.31 | gold quality |
| caudate nucleus | UBERON:0001873 | 83.94 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124472 | yes | 479.96 |
| E-HCAD-10 | yes | 68.98 |
| E-ANND-3 | yes | 4.68 |
| E-ENAD-20 | no | 2424.63 |
| E-MTAB-6911 | no | 147.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
87 targeting MOXD1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
Literature-anchored findings (GeneRIF, showing 3)
- Based on its sequence and localization, MOX (monooxygenase X) is predicted to hydroxylate a hydrophobic substrate in the endoplasmic reticulum. (PMID:15337741)
- RNA N6-methyladenosine demethylase FTO targets MOXD1 promoting the malignant phenotype of gastric cancer. (PMID:38200441)
- MOXD1 is a lineage-specific gene and a tumor suppressor in neuroblastoma. (PMID:38905335)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | moxd1 | ENSDARG00000031136 |
| mus_musculus | Moxd1 | ENSMUSG00000020000 |
| rattus_norvegicus | Moxd1 | ENSRNOG00000015321 |
| drosophila_melanogaster | CG5235 | FBGN0036565 |
| drosophila_melanogaster | olf413 | FBGN0037153 |
Paralogs (1): DBH (ENSG00000123454)
Protein
Protein identifiers
DBH-like monooxygenase protein 1 — Q6UVY6 (reviewed: Q6UVY6)
Alternative names: Monooxygenase X
All UniProt accessions (2): Q6UVY6, A6PVS1
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Highly expressed in lung, kidney, brain and spinal cord.
Post-translational modifications. N-glycosylated.
Cofactor. Binds 2 copper ions per subunit.
Induction. By replicative senescence.
Miscellaneous. Major.
Similarity. Belongs to the copper type II ascorbate-dependent monooxygenase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6UVY6-1 | 1, Long | yes |
| Q6UVY6-2 | 2, Short |
RefSeq proteins (1): NP_056344* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000323 | Cu2_ascorb_mOase_N | Domain |
| IPR000945 | DBH-like | Family |
| IPR005018 | DOMON_domain | Domain |
| IPR008977 | PHM/PNGase_F_dom_sf | Homologous_superfamily |
| IPR014784 | Cu2_ascorb_mOase-like_C | Homologous_superfamily |
| IPR024548 | Cu2_monoox_C | Domain |
| IPR028460 | Tbh/DBH | Family |
| IPR036939 | Cu2_ascorb_mOase_N_sf | Homologous_superfamily |
| IPR045266 | DOH_DOMON | Domain |
Pfam: PF01082, PF03351, PF03712
UniProt features (29 total): binding site 6, disulfide bond 5, glycosylation site 4, sequence conflict 3, splice variant 2, sequence variant 2, active site 2, signal peptide 1, chain 1, topological domain 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UVY6-F1 | 89.34 | 0.75 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 203; 389
Ligand- & substrate-binding residues (6): 389; 391; 464; 235; 236; 307
Disulfide bonds (5): 205–257, 242–269, 364–480, 368–550, 443–465
Glycosylation sites (4): 114, 247, 476, 517
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 160 (showing top):
GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOCC_SECRETORY_GRANULE, PEREZ_TP63_TARGETS, CHANDRAN_METASTASIS_DN, BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_DOPAMINE_METABOLIC_PROCESS, RIGGI_EWING_SARCOMA_PROGENITOR_DN, ONDER_CDH1_TARGETS_2_UP, VANHARANTA_UTERINE_FIBROID_DN, RICKMAN_HEAD_AND_NECK_CANCER_A, AACTTT_UNKNOWN
GO Biological Process (3): octopamine biosynthetic process (GO:0006589), dopamine catabolic process (GO:0042420), norepinephrine biosynthetic process (GO:0042421)
GO Molecular Function (8): dopamine beta-monooxygenase activity (GO:0004500), copper ion binding (GO:0005507), catalytic activity (GO:0003824), monooxygenase activity (GO:0004497), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715), metal ion binding (GO:0046872)
GO Cellular Component (5): obsolete extracellular space (GO:0005615), endoplasmic reticulum membrane (GO:0005789), secretory granule membrane (GO:0030667), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| biogenic amine biosynthetic process | 1 |
| alcohol biosynthetic process | 1 |
| phenol-containing compound biosynthetic process | 1 |
| octopamine metabolic process | 1 |
| dopamine metabolic process | 1 |
| catecholamine catabolic process | 1 |
| norepinephrine metabolic process | 1 |
| catecholamine biosynthetic process | 1 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen | 1 |
| transition metal ion binding | 1 |
| molecular_function | 1 |
| oxidoreductase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| monooxygenase activity | 1 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | 1 |
| cation binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
946 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MOXD1 | TAAR5 | O14804 | 905 |
| MOXD1 | STX7 | O15400 | 859 |
| MOXD1 | TAAR6 | Q96RI8 | 757 |
| MOXD1 | CPLX3 | Q8WVH0 | 548 |
| MOXD1 | PF4 | P02776 | 447 |
| MOXD1 | SRXN1 | Q9BYN0 | 447 |
| MOXD1 | SLC18B1 | Q6NT16 | 439 |
| MOXD1 | HMOX1 | P09601 | 432 |
| MOXD1 | TMEM163 | Q8TC26 | 431 |
| MOXD1 | HOPX | Q9BPY8 | 425 |
| MOXD1 | NCF1 | P14598 | 418 |
| MOXD1 | UBD | O15205 | 418 |
| MOXD1 | CYBA | P13498 | 415 |
| MOXD1 | LIX1 | Q8N485 | 410 |
| MOXD1 | FYN | P06241 | 409 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GLRX3 | MOXD1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| MOXD1 | GLRX3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| C1QTNF9 | C1QTNF9B | psi-mi:“MI:0914”(association) | 0.780 |
| MOXD1 | GPAA1 | psi-mi:“MI:0914”(association) | 0.620 |
| MOXD1 | GPAA1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SCGB1D1 | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| TAFA4 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CMA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| CTSG | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJC3 | DEDD | psi-mi:“MI:0914”(association) | 0.530 |
| ACACB | MOXD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| CSNK2B | MOXD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRAF2 | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| RBCK1 | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SHARPIN | MAP3K7 | psi-mi:“MI:0914”(association) | 0.350 |
| TANK | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP2 | CHUK | psi-mi:“MI:0914”(association) | 0.350 |
| TRAF2 | TMEM178B | psi-mi:“MI:0914”(association) | 0.350 |
| RBCK1 | KHNYN | psi-mi:“MI:0914”(association) | 0.350 |
| SHARPIN | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP1 | COCH | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP2 | TMEM178B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (68): MOXD1 (Two-hybrid), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), GPAA1 (Affinity Capture-MS)
ESM2 similar proteins: A0A2D0TC04, A2VDP5, B0BND0, F1N5C8, J3SBP3, J3SEZ3, O14638, O62806, O94323, P06802, P0DQQ4, P23188, P23377, P29119, P54793, P70699, P84039, P97675, Q0VA77, Q29444, Q32KH8, Q4FZV0, Q566N0, Q58D68, Q5BKW7, Q5FYA8, Q5R5M5, Q5RAC0, Q5RB45, Q6AX80, Q6DDP3, Q6DYE8, Q6P179, Q6P7A9, Q6UVY6, Q6UWR7, Q8BGN3, Q8BTJ4, Q8C129, Q8IVL8
Diamond homologs: A6NHM9, P09172, P15101, Q05754, Q08CS6, Q5TZ24, Q64237, Q68CI2, Q6UVY6, Q7TT41, Q86B61, Q98ST7, Q9CXI3, Q9XTA0, Q61P40, Q9VUY0, Q9XTQ6, Q6NP60, P08478
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 81 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 |
|---|---|---|---|
| TNFR1-induced NF-kappa-B signaling pathway | 5 | 32.3× | 1e-04 |
| Neutrophil degranulation | 10 | 4.4× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| canonical NF-kappaB signal transduction | 6 | 32.3× | 2e-05 |
| negative regulation of canonical NF-kappaB signal transduction | 6 | 15.2× | 4e-04 |
| positive regulation of canonical NF-kappaB signal transduction | 7 | 7.5× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 93 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2035 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:132297785:A:AC | donor_gain | 1.0000 |
| 6:132297786:C:CC | donor_gain | 1.0000 |
| 6:132297956:C:CC | acceptor_gain | 1.0000 |
| 6:132315633:A:AC | donor_gain | 1.0000 |
| 6:132315634:C:CC | donor_gain | 1.0000 |
| 6:132315634:CGTGA:C | donor_gain | 1.0000 |
| 6:132315776:CC:C | acceptor_gain | 1.0000 |
| 6:132315777:CC:C | acceptor_gain | 1.0000 |
| 6:132320627:A:AC | donor_gain | 1.0000 |
| 6:132320627:AC:A | donor_gain | 1.0000 |
| 6:132320628:C:CC | donor_gain | 1.0000 |
| 6:132320628:CC:C | donor_gain | 1.0000 |
| 6:132320684:TCTCC:T | acceptor_gain | 1.0000 |
| 6:132320685:CTCC:C | acceptor_gain | 1.0000 |
| 6:132320685:CTCCC:C | acceptor_gain | 1.0000 |
| 6:132320686:TCCCT:T | acceptor_gain | 1.0000 |
| 6:132320687:CC:C | acceptor_gain | 1.0000 |
| 6:132320687:CCCT:C | acceptor_loss | 1.0000 |
| 6:132320688:CC:C | acceptor_gain | 1.0000 |
| 6:132320689:C:A | acceptor_loss | 1.0000 |
| 6:132320690:TGAAA:T | acceptor_loss | 1.0000 |
| 6:132322677:A:AC | donor_gain | 1.0000 |
| 6:132322678:C:CC | donor_gain | 1.0000 |
| 6:132322698:T:TA | donor_gain | 1.0000 |
| 6:132322699:C:A | donor_gain | 1.0000 |
| 6:132322712:AAACT:A | donor_gain | 1.0000 |
| 6:132322768:T:TA | donor_gain | 1.0000 |
| 6:132322769:C:A | donor_gain | 1.0000 |
| 6:132328444:CAGTT:C | donor_gain | 1.0000 |
| 6:132372828:A:AC | donor_gain | 1.0000 |
AlphaMissense
4057 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:132315697:A:C | S482R | 0.999 |
| 6:132315697:A:T | S482R | 0.999 |
| 6:132315699:T:G | S482R | 0.999 |
| 6:132297815:C:G | C550S | 0.998 |
| 6:132297816:A:T | C550S | 0.998 |
| 6:132297877:C:A | W529C | 0.998 |
| 6:132297877:C:G | W529C | 0.998 |
| 6:132315703:A:C | C480W | 0.998 |
| 6:132315705:A:G | C480R | 0.998 |
| 6:132315748:A:C | C465W | 0.998 |
| 6:132320678:A:G | L439P | 0.998 |
| 6:132323952:G:C | C364W | 0.998 |
| 6:132323953:C:T | C364Y | 0.998 |
| 6:132328452:C:T | C269Y | 0.998 |
| 6:132297790:C:A | W558C | 0.997 |
| 6:132297790:C:G | W558C | 0.997 |
| 6:132297816:A:G | C550R | 0.997 |
| 6:132297949:C:A | W505C | 0.997 |
| 6:132297949:C:G | W505C | 0.997 |
| 6:132315704:C:G | C480S | 0.997 |
| 6:132315704:C:T | C480Y | 0.997 |
| 6:132315705:A:T | C480S | 0.997 |
| 6:132315749:C:G | C465S | 0.997 |
| 6:132315750:A:G | C465R | 0.997 |
| 6:132315750:A:T | C465S | 0.997 |
| 6:132320666:C:G | C443S | 0.997 |
| 6:132320667:A:T | C443S | 0.997 |
| 6:132323942:A:G | C368R | 0.997 |
| 6:132323954:A:G | C364R | 0.997 |
| 6:132324006:G:C | S346R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000000881 (6:132333063 G>A), RS1000012224 (6:132356731 C>A,T), RS1000027647 (6:132338426 A>T), RS1000067716 (6:132392563 G>T), RS1000080956 (6:132350577 T>C), RS1000131609 (6:132311506 T>C), RS1000174829 (6:132341211 G>A), RS1000199166 (6:132304167 A>G), RS1000237390 (6:132308865 T>C), RS1000242286 (6:132355643 C>T), RS1000270916 (6:132399745 C>G), RS1000348297 (6:132304465 G>A,T), RS1000361805 (6:132321186 C>G,T), RS1000385926 (6:132386781 A>C,G), RS1000423501 (6:132386428 C>A)
Disease associations
OMIM: gene MIM:609000 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_459 | Obesity-related traits | 2.000000e-06 |
| GCST001762_533 | Obesity-related traits | 2.000000e-06 |
| GCST001762_539 | Obesity-related traits | 5.000000e-06 |
| GCST001762_583 | Obesity-related traits | 9.000000e-06 |
| GCST001762_615 | Obesity-related traits | 1.000000e-07 |
| GCST001762_681 | Obesity-related traits | 1.000000e-06 |
| GCST001762_89 | Obesity-related traits | 1.000000e-07 |
| GCST008839_579 | Height | 3.000000e-10 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005109 | energy expenditure |
| EFO:0004887 | maximal oxygen uptake measurement |
| EFO:0004338 | body weight |
| EFO:0005106 | body composition measurement |
| EFO:0004995 | lean body mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, affects cotreatment | 7 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 3 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Cadmium | increases palmitoylation, increases expression, decreases reaction, increases abundance | 2 |
| Cadmium Chloride | increases palmitoylation, increases expression, decreases reaction, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| terbufos | increases methylation | 1 |
| trichostatin A | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| butyraldehyde | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| quinocetone | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Aldehydes | increases expression | 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.