ADO
geneOn this page
Also known as FLJ14547
Summary
ADO (2-aminoethanethiol dioxygenase, HGNC:23506) is a protein-coding gene on chromosome 10q21.3, encoding 2-aminoethanethiol dioxygenase (Q96SZ5). Plays a vital role in regulating thiol metabolism and preserving oxygen homeostasis by oxidizing the sulfur of cysteamine and N-terminal cysteine-containing proteins to their corresponding sulfinic acids using O2 as a cosubstrate.
Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).
Source: NCBI Gene 84890 — RefSeq curated summary.
At a glance
- GWAS associations: 29
- Clinical variants (ClinVar): 28 total — 2 pathogenic
- MANE Select transcript:
NM_032804
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23506 |
| Approved symbol | ADO |
| Name | 2-aminoethanethiol dioxygenase |
| Location | 10q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14547 |
| Ensembl gene | ENSG00000181915 |
| Ensembl biotype | protein_coding |
| OMIM | 611392 |
| Entrez | 84890 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000373783, ENST00000710287
RefSeq mRNA: 1 — MANE Select: NM_032804
NM_032804
CCDS: CCDS7266
Canonical transcript exons
ENST00000373783 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001461538 | 62804720 | 62808479 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 99.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.0849 / max 179.5809, expressed in 1807 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 105159 | 11.0125 | 1732 |
| 105156 | 7.7369 | 1779 |
| 105160 | 1.1648 | 701 |
| 105155 | 1.0628 | 732 |
| 105161 | 0.6846 | 376 |
| 105157 | 0.2340 | 82 |
| 105158 | 0.1893 | 68 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.54 | gold quality |
| male germ cell | CL:0000015 | 98.96 | gold quality |
| secondary oocyte | CL:0000655 | 98.40 | gold quality |
| oocyte | CL:0000023 | 97.95 | gold quality |
| endothelial cell | CL:0000115 | 96.55 | gold quality |
| adult organism | UBERON:0007023 | 94.60 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.08 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.94 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.71 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.44 | gold quality |
| hair follicle | UBERON:0002073 | 93.42 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 93.06 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 92.74 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 91.91 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 91.29 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.06 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.00 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.91 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 90.90 | gold quality |
| parietal lobe | UBERON:0001872 | 90.78 | gold quality |
| spinal cord | UBERON:0002240 | 90.71 | gold quality |
| pons | UBERON:0000988 | 90.69 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 90.58 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.48 | gold quality |
| medulla oblongata | UBERON:0001896 | 90.44 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.14 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.05 | gold quality |
| ventral tegmental area | UBERON:0002691 | 89.91 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 89.90 | gold quality |
| inferior olivary complex | UBERON:0002127 | 89.90 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124858 | no | 64.07 |
| E-ANND-3 | no | 2.88 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SP1
miRNA regulators (miRDB)
146 targeting ADO, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
Literature-anchored findings (GeneRIF, showing 5)
- when endogenous expression of the human ADO ortholog C10orf22 in HepG2/C3A cells was reduced by RNA-mediated interference, hypotaurine production decreased (PMID:17581819)
- this study shows in human cells that ADO regulates RGS4/5 (regulator of G protein signaling) N-degron substrates, modulates G protein-coupled calcium ion signals and mitogen-activated protein kinase activity, and that its activity extends to other N-cysteine proteins including the angiogenic cytokine interleukin-32 (PMID:31273118)
- Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population. (PMID:32437414)
- Characterization of the nonheme iron center of cysteamine dioxygenase and its interaction with substrates. (PMID:32601061)
- Crystal structure of human cysteamine dioxygenase provides a structural rationale for its function as an oxygen sensor. (PMID:34508780)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adoa | ENSDARG00000042827 |
| danio_rerio | adob | ENSDARG00000053571 |
| mus_musculus | Ado | ENSMUSG00000057134 |
| rattus_norvegicus | Ado | ENSRNOG00000070733 |
| drosophila_melanogaster | CG7550 | FBGN0035839 |
Protein
Protein identifiers
2-aminoethanethiol dioxygenase — Q96SZ5 (reviewed: Q96SZ5)
Alternative names: Cysteamine dioxygenase
All UniProt accessions (2): Q96SZ5, A0AA34QVG9
UniProt curated annotations — full annotation on UniProt →
Function. Plays a vital role in regulating thiol metabolism and preserving oxygen homeostasis by oxidizing the sulfur of cysteamine and N-terminal cysteine-containing proteins to their corresponding sulfinic acids using O2 as a cosubstrate. Catalyzes the oxidation of cysteamine (2-aminoethanethiol) to hypotaurine. Catalyzes the oxidation of regulators of G-protein signaling 4 (RGS4) and 5 (RGS5) and interleukin-32 (IL32).
Subunit / interactions. Monomer.
RefSeq proteins (1): NP_116193* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011051 | RmlC_Cupin_sf | Homologous_superfamily |
| IPR012864 | PCO/ADO | Family |
| IPR014710 | RmlC-like_jellyroll | Homologous_superfamily |
Pfam: PF07847
Enzyme classification (BRENDA):
- EC 1.13.11.19 — cysteamine dioxygenase (BRENDA: 15 organisms, 14 substrates, 22 inhibitors, 7 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3-MERCAPTOPROPIONIC ACID | 5 | 1 |
| CYSTEAMINE | 0.001 | 1 |
| HOMOCYSTEAMINE | 0.83 | 1 |
| MERCAPTOETHANOL | 1.2 | 1 |
| N-ACETYLCYSTEAMINE | 0.71 | 1 |
| O2 | 0.1 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- cysteamine + O2 = hypotaurine + H(+) (RHEA:14409)
- N-terminal L-cysteinyl-[protein] + O2 = N-terminal S-hydroxy-S-oxy-L-cysteinyl-[protein] + H(+) (RHEA:70895)
UniProt features (30 total): strand 11, helix 6, mutagenesis site 3, binding site 3, sequence variant 3, region of interest 2, chain 1, cross-link 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9DXV | X-RAY DIFFRACTION | 1.6 |
| 9DXB | X-RAY DIFFRACTION | 1.74 |
| 9DXU | X-RAY DIFFRACTION | 1.74 |
| 7REI | X-RAY DIFFRACTION | 1.78 |
| 9DMA | X-RAY DIFFRACTION | 1.89 |
| 9NDU | X-RAY DIFFRACTION | 1.98 |
| 8UAN | X-RAY DIFFRACTION | 1.99 |
| 8U9J | X-RAY DIFFRACTION | 2.02 |
| 9DY4 | X-RAY DIFFRACTION | 2.39 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96SZ5-F1 | 87.28 | 0.70 |
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 (3): 112; 114; 193
Post-translational modifications (1): 220–223
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 87 | moderate reduction in enzyme activity. |
| 222 | significant reduction in enzyme activity. |
| 223 | no significant reduction in enzyme activity. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-1614558 | Degradation of cysteine and homocysteine |
| R-HSA-1430728 | Metabolism |
| R-HSA-1614635 | Sulfur amino acid metabolism |
| R-HSA-71291 | Metabolism of amino acids and derivatives |
MSigDB gene sets: 215 (showing top):
FXR_IR1_Q6, GCM_MAP4K4, RRAGTTGT_UNKNOWN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, AAGCCAT_MIR135A_MIR135B, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, chr10q21, GGAMTNNNNNTCCY_UNKNOWN, CAGCTG_AP4_Q5, YY1_Q6, AGCGCTT_MIR518F_MIR518E_MIR518A, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS, YY1_02, KEGG_TAURINE_AND_HYPOTAURINE_METABOLISM, GOBP_RESPONSE_TO_OXYGEN_LEVELS
GO Biological Process (1): cellular response to hypoxia (GO:0071456)
GO Molecular Function (7): iron ion binding (GO:0005506), cysteamine dioxygenase activity (GO:0047800), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702), metal ion binding (GO:0046872), dioxygenase activity (GO:0051213)
GO Cellular Component (2): mitochondrion (GO:0005739), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Sulfur amino acid metabolism | 1 |
| Metabolism of amino acids and derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| response to hypoxia | 1 |
| cellular response to stress | 1 |
| cellular response to decreased oxygen levels | 1 |
| transition metal ion binding | 1 |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen | 1 |
| dioxygenase activity | 1 |
| cation binding | 1 |
| oxidoreductase activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
346 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADO | CDO1 | P78513 | 986 |
| ADO | CSAD | Q9Y600 | 709 |
| ADO | GADL1 | Q6ZQY3 | 503 |
| ADO | C3 | P01024 | 425 |
| ADO | SLC6A6 | P31641 | 415 |
| ADO | SCRN3 | Q0VDG4 | 381 |
| ADO | CTH | P32929 | 375 |
| ADO | OGA | O60502 | 361 |
| ADO | METAP1 | P53582 | 348 |
| ADO | EGR2 | P11161 | 333 |
| ADO | H7C2H4 | H7C2H4 | 327 |
| ADO | P0DN79 | P0DN79 | 327 |
| ADO | C1orf141 | Q5JVX7 | 310 |
| ADO | IL23R | Q5VWK5 | 266 |
| ADO | CARS2 | Q9HA77 | 263 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAP2 | ADO | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADO | DISC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM76B | ADO | psi-mi:“MI:0915”(physical association) | 0.560 |
| C5orf24 | MEIS1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSSC4 | SNRNP200 | psi-mi:“MI:0914”(association) | 0.530 |
| ADO | RGS5 | psi-mi:“MI:0945”(oxidoreductase activity electron transfer reaction) | 0.440 |
| ADO | RGS4 | psi-mi:“MI:0945”(oxidoreductase activity electron transfer reaction) | 0.440 |
| FYCO1 | RFT1 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNJ10 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF212 | ZNF746 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM76B | SORL1 | psi-mi:“MI:0914”(association) | 0.350 |
| FCRL4 | ADO | psi-mi:“MI:0914”(association) | 0.350 |
| SPANXN4 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| ANKRD39 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| STAC2 | EIF1AX | psi-mi:“MI:0914”(association) | 0.350 |
| C16orf74 | PPP3CC | psi-mi:“MI:0914”(association) | 0.350 |
| RTKN | ADO | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC46 | GTPBP6 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD14A | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| ADO | CAP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ADO | DISC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (26): ADO (Affinity Capture-MS), ADO (Affinity Capture-MS), ADO (Affinity Capture-MS), ADO (Affinity Capture-MS), ADO (Affinity Capture-MS), ADO (Affinity Capture-MS), ADO (Affinity Capture-MS), ADO (Affinity Capture-MS), ADO (Affinity Capture-MS), ADO (Two-hybrid), ADO (Two-hybrid), ADO (Negative Genetic), ADO (Affinity Capture-MS), ADO (Affinity Capture-RNA), ADO (Affinity Capture-MS)
ESM2 similar proteins: A0JMH0, A1YIZ1, B5DE73, B5DFG1, D3Z2R5, P13689, P33487, P33488, P33489, P33490, P33491, P68827, P97364, Q09200, Q0JCU7, Q10468, Q14703, Q3U487, Q53NI2, Q5E9N5, Q5EA24, Q5R673, Q5T447, Q5VW38, Q5YLM1, Q60649, Q6ICH7, Q6PDY2, Q6WQJ1, Q6Y290, Q6YRM6, Q86XS8, Q8CFC1, Q8IUF8, Q8IUH2, Q8IUL8, Q8NHY0, Q8VEM1, Q96375, Q96SZ5
Diamond homologs: Q556I2, Q6PDY2, Q96SZ5, Q9SJI9, Q1G3U6, Q8LGJ5, Q9LXG9, Q9LXT4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 152646 | GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3 | Pathogenic |
| 815349 | GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1 | Pathogenic |
SpliceAI
10 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:62806002:G:T | donor_gain | 0.5500 |
| 10:62805854:TCCC:T | donor_gain | 0.5400 |
| 10:62806002:G:GT | donor_gain | 0.5000 |
| 10:62806041:A:AG | donor_gain | 0.3200 |
| 10:62806034:C:T | donor_gain | 0.2700 |
| 10:62804944:G:GA | donor_gain | 0.2300 |
| 10:62806040:T:A | donor_gain | 0.2300 |
| 10:62805837:G:GT | donor_gain | 0.2000 |
| 10:62806038:GT:G | donor_gain | 0.2000 |
| 10:62806039:TT:T | donor_gain | 0.2000 |
AlphaMissense
1740 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:62805360:T:C | F101L | 1.000 |
| 10:62805360:T:G | F101V | 1.000 |
| 10:62805361:T:C | F101S | 1.000 |
| 10:62805361:T:G | F101C | 1.000 |
| 10:62805362:C:A | F101L | 1.000 |
| 10:62805362:C:G | F101L | 1.000 |
| 10:62805385:T:C | I109T | 1.000 |
| 10:62805393:C:A | H112N | 1.000 |
| 10:62805393:C:G | H112D | 1.000 |
| 10:62805395:C:A | H112Q | 1.000 |
| 10:62805395:C:G | H112Q | 1.000 |
| 10:62805399:C:A | H114N | 1.000 |
| 10:62805399:C:G | H114D | 1.000 |
| 10:62805400:A:G | H114R | 1.000 |
| 10:62805401:C:A | H114Q | 1.000 |
| 10:62805401:C:G | H114Q | 1.000 |
| 10:62805409:T:C | M117T | 1.000 |
| 10:62805436:G:T | G126V | 1.000 |
| 10:62805636:C:A | H193N | 1.000 |
| 10:62805636:C:G | H193D | 1.000 |
| 10:62805667:C:A | A203D | 1.000 |
| 10:62805669:T:C | F204L | 1.000 |
| 10:62805670:T:C | F204S | 1.000 |
| 10:62805671:C:A | F204L | 1.000 |
| 10:62805671:C:G | F204L | 1.000 |
| 10:62805676:A:T | D206V | 1.000 |
| 10:62805693:T:C | Y212H | 1.000 |
| 10:62805717:T:C | C220R | 1.000 |
| 10:62805718:G:A | C220Y | 1.000 |
| 10:62805825:T:C | F256L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000279857 (10:62804726 C>T), RS1000337667 (10:62806446 G>A), RS1000666380 (10:62804875 G>A), RS1000823475 (10:62804739 T>C), RS1001685158 (10:62805035 C>T), RS1001737413 (10:62804857 A>C,G,T), RS1002743537 (10:62806190 A>G), RS1003564112 (10:62802966 G>A,C), RS1003663479 (10:62803172 CAAAA>C,CAAA,CAAAAA,CAAAAAAA,CAAAAAAAA), RS1003731016 (10:62807762 A>C), RS1004232850 (10:62806899 T>C), RS1004241752 (10:62805248 C>G,T), RS1004577712 (10:62804200 C>G,T), RS1004630073 (10:62804450 C>G,T), RS1004684683 (10:62806604 A>G)
Disease associations
OMIM: gene MIM:611392 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
29 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001407_3 | Ewing sarcoma | 4.000000e-17 |
| GCST001438_9 | Crohn’s disease | 7.000000e-09 |
| GCST001585_31 | Breast size | 3.000000e-09 |
| GCST001709_15 | Atopic dermatitis | 2.000000e-07 |
| GCST002562_3 | Vogt-Koyanagi-Harada syndrome | 3.000000e-11 |
| GCST003269_1 | Cutaneous psoriasis | 2.000000e-06 |
| GCST003814_9 | Selective IgA deficiency | 7.000000e-07 |
| GCST004131_20 | Inflammatory bowel disease | 2.000000e-36 |
| GCST004132_12 | Crohn’s disease | 8.000000e-29 |
| GCST004133_19 | Ulcerative colitis | 1.000000e-15 |
| GCST004274_2 | Venlafaxine response in generalised anxiety disorder (remitters vs non-remitters after 12 weeks) | 5.000000e-06 |
| GCST004625_179 | Monocyte count | 3.000000e-09 |
| GCST004866_33 | Alopecia areata | 9.000000e-06 |
| GCST005752_141 | Systemic lupus erythematosus | 7.000000e-06 |
| GCST006020_30 | Diastolic blood pressure | 1.000000e-12 |
| GCST006021_35 | Systolic blood pressure | 2.000000e-06 |
| GCST006166_113 | Diastolic blood pressure x alcohol consumption interaction (2df test) | 2.000000e-13 |
| GCST006227_9 | Diastolic blood pressure | 2.000000e-11 |
| GCST006463_17 | Urinary albumin excretion (no hypertensive medication) | 1.000000e-08 |
| GCST006586_28 | Urinary albumin excretion | 4.000000e-08 |
| GCST007094_70 | Diastolic blood pressure | 1.000000e-15 |
| GCST007099_231 | Systolic blood pressure | 1.000000e-11 |
| GCST009640_13 | Urinary albumin-to-creatinine ratio | 8.000000e-10 |
| GCST011494_53 | Daytime nap | 2.000000e-17 |
| GCST012073_7 | Behcet’s disease | 3.000000e-08 |
| GCST012465_59 | Bipolar disorder | 5.000000e-08 |
| GCST90002388_558 | Lymphocyte count | 1.000000e-14 |
| GCST90002393_354 | Monocyte count | 3.000000e-25 |
| GCST90002402_117 | Platelet count | 7.000000e-17 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007773 | cutaneous psoriasis measurement |
| EFO:0005091 | monocyte count |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
| EFO:0004329 | alcohol drinking |
| EFO:0004285 | albuminuria |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0007828 | daytime rest measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs10995311 | Efficacy | 3 | hydrochlorothiazide | Hypertension |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs10995311 | ADO | 3 | 3.00 | 1 | hydrochlorothiazide |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | increases expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Gold Compounds | 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_E1PK | HAP1 ADO (-) | Cancer cell line | Male |
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): alopecia areata, atopic eczema, Behcet disease, Ewing sarcoma, selective IgA deficiency disease, Vogt-Koyanagi-Harada disease