HAO2
gene geneOn this page
Also known as HAOX2GIG16
Summary
HAO2 (hydroxyacid oxidase 2, HGNC:4810) is a protein-coding gene on chromosome 1p12, encoding 2-Hydroxyacid oxidase 2 (Q9NYQ3). Oxidase that catalyzes the oxidation of medium and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, to the correspondong 2-oxoacids.
This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51179 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 60 total
- Druggable target: yes
- MANE Select transcript:
NM_016527
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4810 |
| Approved symbol | HAO2 |
| Name | hydroxyacid oxidase 2 |
| Location | 1p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HAOX2, GIG16 |
| Ensembl gene | ENSG00000116882 |
| Ensembl biotype | protein_coding |
| OMIM | 605176 |
| Entrez | 51179 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 35 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000325945, ENST00000361035, ENST00000457318, ENST00000482991, ENST00000622548, ENST00000864531, ENST00000864532, ENST00000864533, ENST00000864534, ENST00000864535, ENST00000864536, ENST00000864537, ENST00000864538, ENST00000864539, ENST00000864540, ENST00000864541, ENST00000864542, ENST00000864543, ENST00000864544, ENST00000864545, ENST00000864546, ENST00000864547, ENST00000864548, ENST00000864549, ENST00000864550, ENST00000864551, ENST00000864552, ENST00000864553, ENST00000864554, ENST00000864555, ENST00000864556, ENST00000864557, ENST00000864558, ENST00000864559, ENST00000864560, ENST00000864561
RefSeq mRNA: 3 — MANE Select: NM_016527
NM_001005783, NM_001377472, NM_016527
CCDS: CCDS76196, CCDS901
Canonical transcript exons
ENST00000325945 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000785225 | 119382915 | 119383066 |
| ENSE00000785226 | 119384776 | 119385053 |
| ENSE00000785228 | 119392110 | 119392268 |
| ENSE00000785229 | 119392618 | 119392687 |
| ENSE00000800638 | 119386622 | 119386831 |
| ENSE00001814760 | 119368785 | 119368902 |
| ENSE00001839391 | 119393785 | 119394130 |
| ENSE00003513214 | 119381078 | 119381216 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 98.37.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1438 / max 48.4179, expressed in 11 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4917 | 0.0828 | 7 |
| 4916 | 0.0584 | 8 |
| 201635 | 0.0025 | 2 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 98.37 | gold quality |
| liver | UBERON:0002107 | 95.68 | gold quality |
| kidney epithelium | UBERON:0004819 | 94.72 | gold quality |
| nephron tubule | UBERON:0001231 | 94.69 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 93.55 | gold quality |
| adult organism | UBERON:0007023 | 93.55 | gold quality |
| renal glomerulus | UBERON:0000074 | 93.40 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 92.92 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.55 | gold quality |
| kidney | UBERON:0002113 | 90.15 | gold quality |
| renal medulla | UBERON:0000362 | 87.06 | gold quality |
| cortex of kidney | UBERON:0001225 | 84.64 | gold quality |
| metanephros | UBERON:0000081 | 79.73 | gold quality |
| upper leg skin | UBERON:0004262 | 73.80 | gold quality |
| upper arm skin | UBERON:0004263 | 70.05 | gold quality |
| mammalian vulva | UBERON:0000997 | 69.53 | gold quality |
| ileal mucosa | UBERON:0000331 | 69.26 | silver quality |
| thymus | UBERON:0002370 | 69.11 | silver quality |
| cerebellar vermis | UBERON:0004720 | 68.00 | gold quality |
| metanephros cortex | UBERON:0010533 | 67.19 | gold quality |
| olfactory bulb | UBERON:0002264 | 66.68 | gold quality |
| type B pancreatic cell | CL:0000169 | 66.48 | gold quality |
| nipple | UBERON:0002030 | 65.71 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 65.19 | gold quality |
| deltoid | UBERON:0001476 | 63.66 | silver quality |
| diaphragm | UBERON:0001103 | 63.44 | gold quality |
| male germ cell | CL:0000015 | 63.42 | gold quality |
| right adrenal gland | UBERON:0001233 | 63.27 | gold quality |
| left adrenal gland | UBERON:0001234 | 63.03 | gold quality |
| pancreatic ductal cell | CL:0002079 | 62.89 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 32.77 |
| E-ANND-3 | yes | 4.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting HAO2, 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-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-5572 | 98.55 | 65.84 | 970 |
| HSA-MIR-1233-5P | 98.19 | 66.71 | 1201 |
| HSA-MIR-6778-5P | 98.19 | 66.59 | 1239 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-6847-5P | 97.93 | 66.74 | 1808 |
| HSA-MIR-450A-2-3P | 97.91 | 67.56 | 1459 |
| HSA-MIR-4257 | 97.86 | 68.05 | 1190 |
| HSA-MIR-299-3P | 97.73 | 66.67 | 773 |
| HSA-MIR-4253 | 97.48 | 65.11 | 692 |
| HSA-MIR-6862-5P | 97.48 | 64.84 | 713 |
| HSA-MIR-6515-5P | 97.08 | 65.48 | 1219 |
| HSA-MIR-4654 | 95.86 | 65.72 | 751 |
| HSA-MIR-4769-5P | 95.37 | 66.09 | 570 |
| HSA-MIR-4442 | 92.35 | 67.08 | 98 |
Literature-anchored findings (GeneRIF, showing 4)
- Dysregulation of HAO2 is a very early event in the development of hepatocellular carcinoma (HCC). (PMID:26658681)
- Overexpression of HAO2 by plasmid promoted lipid catabolic process, eliminated lipid accumulation, inhibited KRAS expression, controlled the proliferation, migration, and invasion activity of clear cell renal cell carcinoma (ccRCC) tumor cells (PMID:31127626)
- miR-1293 Suppresses Tumor Malignancy by Targeting Hydrocyanic Oxidase 2: Therapeutic Potential of a miR-1293/Hydrocyanic Oxidase 2 Axis in Renal Cell Carcinoma. (PMID:31971830)
- Hydroxyacid Oxidase 2 (HAO2) Inhibits the Tumorigenicity of Hepatocellular Carcinoma and Is Negatively Regulated by miR-615-5p. (PMID:35528616)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hao2 | ENSDARG00000027992 |
| mus_musculus | Hao2 | ENSMUSG00000027870 |
| rattus_norvegicus | Hao2 | ENSRNOG00000019470 |
| drosophila_melanogaster | Hao | FBGN0061356 |
| caenorhabditis_elegans | WBGENE00018286 |
Paralogs (2): HAO1 (ENSG00000101323), CARNS1 (ENSG00000172508)
Protein
Protein identifiers
2-Hydroxyacid oxidase 2 — Q9NYQ3 (reviewed: Q9NYQ3)
Alternative names: (S)-2-hydroxy-acid oxidase, peroxisomal, Cell growth-inhibiting gene 16 protein, Long chain alpha-hydroxy acid oxidase, Long-chain L-2-hydroxy acid oxidase
All UniProt accessions (2): Q9NYQ3, Q5QP02
UniProt curated annotations — full annotation on UniProt →
Function. Oxidase that catalyzes the oxidation of medium and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, to the correspondong 2-oxoacids. Its role in the oxidation of 2-hydroxy fatty acids may contribute to the general pathway of fatty acid alpha-oxidation. Active in vitro with the artificial electron acceptor 2,6-dichlorophenolindophenol (DCIP), but O2 is believed to be the physiological electron acceptor, leading to the production of H2O2. Is not active on glycolate, glyoxylate, L-lactate and 2-hydroxybutanoate.
Subunit / interactions. Homotetramer.
Subcellular location. Peroxisome.
Tissue specificity. Expressed in the liver and kidney.
Pathway. Lipid metabolism; fatty acid metabolism.
Similarity. Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NYQ3-1 | 1 | yes |
| Q9NYQ3-2 | 2 |
RefSeq proteins (3): NP_001005783, NP_001364401, NP_057611* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000262 | FMN-dep_DH | Domain |
| IPR008259 | FMN_hydac_DH_AS | Active_site |
| IPR012133 | Alpha-hydoxy_acid_DH_FMN | Family |
| IPR013785 | Aldolase_TIM | Homologous_superfamily |
| IPR037396 | FMN_HAD | Domain |
Pfam: PF01070
Enzyme classification (BRENDA):
- EC 1.1.3.15 — (S)-2-hydroxy-acid oxidase (BRENDA: 44 organisms, 164 substrates, 154 inhibitors, 169 Km, 41 kcat entries)
Substrate kinetics (BRENDA)
52 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GLYCOLATE | 0.0056–2.1 | 24 |
| (S)-LACTATE | 0.0052–103 | 15 |
| L-LACTATE | 0.34–16.5 | 14 |
| L-2-HYDROXYISOCAPROATE | 0.3–2.5 | 11 |
| O2 | 0.022–0.64 | 10 |
| DL-2-HYDROXYBUTYRATE | 0.6–14 | 8 |
| GLYOXYLATE | 1.41–6.51 | 7 |
| L-MANDELATE | 0.16–20 | 7 |
| DL-2-HYDROXYCAPROATE | 0.15–3.2 | 4 |
| DL-2-HYDROXYVALERATE | 0.25–13 | 4 |
| GLYCERATE | 2.76–7.14 | 4 |
| L-LEUCINE | 5.3–15 | 4 |
| DL-3-CHLOROLACTATE | 0.7–28 | 3 |
| DL-2-HYDROXY-4-METHYLTHIOBUTANOIC ACID | 0.7–1.1 | 2 |
| DL-2-HYDROXYISOVALERATE | 0.6–8 | 2 |
Catalyzed reactions (Rhea), 3 shown:
- a (2S)-2-hydroxycarboxylate + O2 = a 2-oxocarboxylate + H2O2 (RHEA:16789)
- 2-hydroxyoctanoate + O2 = 2-oxooctanoate + H2O2 (RHEA:67940)
- 2-hydroxyhexadecanoate + O2 = 2-oxohexadecanoate + H2O2 (RHEA:67944)
UniProt features (20 total): binding site 10, sequence variant 2, sequence conflict 2, chain 1, domain 1, modified residue 1, splice variant 1, short sequence motif 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYQ3-F1 | 92.99 | 0.88 |
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 (1): 246 (proton acceptor)
Ligand- & substrate-binding residues (10): 222; 249; 277–281; 300–301; 77–79; 106; 128; 130; 156; 165
Post-translational modifications (1): 178
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-390918 | Peroxisomal lipid metabolism |
| R-HSA-9033241 | Peroxisomal protein import |
MSigDB gene sets: 91 (showing top):
GOBP_LIPID_MODIFICATION, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, TGTGTGA_MIR377, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_DN, CAIRO_HEPATOBLASTOMA_DN, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, chr1p12, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_LIPID_OXIDATION, TGGAAA_NFAT_Q4_01, GOCC_MICROBODY, GOCC_MICROBODY_LUMEN, GOBP_FATTY_ACID_METABOLIC_PROCESS
GO Biological Process (4): fatty acid oxidation (GO:0019395), obsolete glutamate biosynthetic process (GO:0006537), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)
GO Molecular Function (6): (S)-2-hydroxy-acid oxidase activity (GO:0003973), FMN binding (GO:0010181), protein binding (GO:0005515), glutamate synthase activity (GO:0015930), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-NH2 group of donors (GO:0016638)
GO Cellular Component (3): peroxisomal matrix (GO:0005782), cytosol (GO:0005829), peroxisome (GO:0005777)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Fatty acid metabolism | 1 |
| Protein localization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid metabolic process | 1 |
| lipid oxidation | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| oxidoreductase activity, acting on the CH-OH group of donors, oxygen as acceptor | 1 |
| ribonucleotide binding | 1 |
| anion binding | 1 |
| binding | 1 |
| oxidoreductase activity, acting on the CH-NH2 group of donors | 1 |
| catalytic activity | 1 |
| oxidoreductase activity | 1 |
| peroxisome | 1 |
| microbody lumen | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| microbody | 1 |
Protein interactions and networks
STRING
2782 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HAO2 | ACO1 | P21399 | 696 |
| HAO2 | IREB2 | P48200 | 694 |
| HAO2 | ACAA1 | P09110 | 630 |
| HAO2 | AGXT | P21549 | 556 |
| HAO2 | HACL1 | Q9UJ83 | 501 |
| HAO2 | PIPOX | Q9P0Z9 | 454 |
| HAO2 | HMGCS2 | P54868 | 444 |
| HAO2 | AMT | P48728 | 432 |
| HAO2 | NUDT12 | Q9BQG2 | 419 |
| HAO2 | HMGCLL1 | Q8TB92 | 418 |
| HAO2 | ACSM5 | Q6NUN0 | 416 |
| HAO2 | AGPS | O00116 | 413 |
| HAO2 | ACSL6 | Q9UKU0 | 410 |
| HAO2 | FBP1 | P09467 | 396 |
| HAO2 | AADAT | Q8N5Z0 | 395 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PI4KA | psi-mi:“MI:0914”(association) | 0.700 | |
| HAO2 | SEC14L4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HAO2 | EIF4G3 | psi-mi:“MI:0914”(association) | 0.530 |
| HAO2 | TRIM7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HAO2 | SEC14L4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (49): PPFIBP1 (Affinity Capture-MS), SMG6 (Affinity Capture-MS), PPM1A (Affinity Capture-MS), RBPMS (Affinity Capture-MS), RBPMS2 (Affinity Capture-MS), PM20D2 (Affinity Capture-MS), BCOR (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), TNIP1 (Affinity Capture-MS), CTAGE5 (Affinity Capture-MS), UBB (Affinity Capture-MS), CYHR1 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), WNK1 (Affinity Capture-MS)
ESM2 similar proteins: A0A3L6E0R4, A3N3E5, A4W540, A4XYG7, A5UBE3, A5UFG9, A6VCM8, A7IMB0, B0BNF9, B0BTC7, B1HZY7, B2SUY3, B3GZA5, B8AKX6, B8AUI3, B8B7C5, B8B8K5, B9K115, C3K053, C3LWP7, O49506, P05414, P46454, Q01KC2, Q07523, Q10CE4, Q1R0J2, Q24JJ8, Q2P9K0, Q3BZH2, Q3ZBW2, Q4QJK8, Q5H6Z4, Q6G0J2, Q6G4R2, Q6WB83, Q6YT73, Q7FAS1, Q7VPI9, Q7XPR4
Diamond homologs: A0A0D2YG00, A0A3L6E0R4, A0A5N1I561, A1AHE2, A4TKI4, A4XYG7, A6VCM8, A7FJF0, A7ZTF9, A8A670, A8ARJ1, A8GIL1, A9R623, B0BNF9, B0RLM2, B0T7X2, B1HZY7, B1IZI5, B1JPU0, B1LK44, B1X8M0, B2JZQ1, B2SUY3, B2U5C2, B5YWA7, B6I3I4, B7L725, B7M492, B7MFG9, B7N251, B7NER0, B7NPB4, B7RR92, B7ULG1, B7V1I3, B8AKX6, B8AUI3, B8B7C5, B8B8K5, B8MKR3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1501 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:119385332:A:T | donor_gain | 1.0000 |
| 1:119386832:G:GG | donor_gain | 1.0000 |
| 1:119392216:GAGC:G | donor_gain | 1.0000 |
| 1:119392219:C:G | donor_gain | 1.0000 |
| 1:119382981:G:T | donor_gain | 0.9900 |
| 1:119383886:C:G | donor_gain | 0.9900 |
| 1:119384770:TTACA:T | acceptor_loss | 0.9900 |
| 1:119384771:TACA:T | acceptor_loss | 0.9900 |
| 1:119384772:ACAG:A | acceptor_loss | 0.9900 |
| 1:119384773:CA:C | acceptor_loss | 0.9900 |
| 1:119384774:A:AG | acceptor_gain | 0.9900 |
| 1:119384774:AGC:A | acceptor_loss | 0.9900 |
| 1:119384774:AGCT:A | acceptor_gain | 0.9900 |
| 1:119384775:G:A | acceptor_loss | 0.9900 |
| 1:119384775:G:GG | acceptor_gain | 0.9900 |
| 1:119384775:GCT:G | acceptor_gain | 0.9900 |
| 1:119384775:GCTG:G | acceptor_gain | 0.9900 |
| 1:119385205:A:G | donor_gain | 0.9900 |
| 1:119385295:G:GT | donor_gain | 0.9900 |
| 1:119385331:G:GT | donor_gain | 0.9900 |
| 1:119385364:A:T | donor_gain | 0.9900 |
| 1:119392215:GGAGC:G | donor_gain | 0.9900 |
| 1:119392219:C:CG | donor_gain | 0.9900 |
| 1:119380737:A:AG | donor_gain | 0.9800 |
| 1:119381072:T:TA | acceptor_gain | 0.9800 |
| 1:119381212:AAAAG:A | donor_loss | 0.9800 |
| 1:119381213:AAAG:A | donor_loss | 0.9800 |
| 1:119381214:AAG:A | donor_loss | 0.9800 |
| 1:119381215:AG:A | donor_loss | 0.9800 |
| 1:119381216:G:GA | donor_loss | 0.9800 |
AlphaMissense
2288 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:119386725:A:T | K222I | 0.998 |
| 1:119386788:T:A | V243D | 0.993 |
| 1:119384808:A:C | S106R | 0.992 |
| 1:119384810:C:A | S106R | 0.992 |
| 1:119384810:C:G | S106R | 0.992 |
| 1:119384868:T:A | W126R | 0.992 |
| 1:119384868:T:C | W126R | 0.992 |
| 1:119386727:G:T | G223W | 0.989 |
| 1:119386758:C:A | A233D | 0.989 |
| 1:119384809:G:T | S106I | 0.988 |
| 1:119386726:A:C | K222N | 0.988 |
| 1:119386726:A:T | K222N | 0.988 |
| 1:119386791:C:T | S244F | 0.988 |
| 1:119386727:G:A | G223R | 0.987 |
| 1:119386727:G:C | G223R | 0.987 |
| 1:119386748:G:C | A230P | 0.986 |
| 1:119386790:T:C | S244P | 0.986 |
| 1:119386795:C:A | N245K | 0.984 |
| 1:119386795:C:G | N245K | 0.984 |
| 1:119386791:C:A | S244Y | 0.982 |
| 1:119386757:G:C | A233P | 0.981 |
| 1:119381199:C:A | N38K | 0.980 |
| 1:119381199:C:G | N38K | 0.980 |
| 1:119384964:G:C | D158H | 0.980 |
| 1:119386725:A:C | K222T | 0.980 |
| 1:119384965:A:T | D158V | 0.979 |
| 1:119386675:G:C | W205C | 0.978 |
| 1:119386675:G:T | W205C | 0.978 |
| 1:119386728:G:A | G223E | 0.977 |
| 1:119384966:T:A | D158E | 0.976 |
dbSNP variants (sampled 300 via entrez): RS1000039917 (1:119376954 C>T), RS1000098938 (1:119374373 G>T), RS1000172988 (1:119373029 A>G), RS1000244644 (1:119382715 T>C), RS1000249025 (1:119390649 A>G), RS1000273054 (1:119370724 A>G), RS1000346118 (1:119394363 A>G), RS1000448735 (1:119388241 A>G), RS1000449501 (1:119374122 C>T), RS1000639869 (1:119381285 T>C), RS1000785565 (1:119386452 C>A,T), RS1000846972 (1:119386589 C>T), RS1000937073 (1:119392853 G>A), RS1000940852 (1:119380315 T>C), RS1000990894 (1:119381462 T>C)
Disease associations
OMIM: gene MIM:605176 | 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 |
|---|---|---|
| GCST003996_15 | Monobrow | 4.000000e-11 |
| GCST007239_2 | Ovarian cancer | 8.000000e-07 |
| GCST008971_132 | Urate levels | 2.000000e-08 |
| GCST008972_260 | Urate levels | 2.000000e-08 |
| GCST012020_234 | Serum metabolite levels | 5.000000e-27 |
| GCST012020_235 | Serum metabolite levels | 6.000000e-17 |
| GCST012353_11 | Serum metabolite concentrations in chronic kidney disease | 4.000000e-19 |
| GCST012353_12 | Serum metabolite concentrations in chronic kidney disease | 1.000000e-14 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007906 | synophrys measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2169732 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.02 | IC50 | 950 | nM | CHEMBL2172058 |
PubChem BioAssay actives
1 with measured affinity, of 107 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-[3-(4-fluorophenyl)phenyl]-5-methyl-1H-pyrazole-3-carboxylic acid | 702442: Inhibition of human Hao2-mediated oxidation of 2-hydroxyoctanoic acid assessed as proportionate release of H2O2 | ic50 | 0.9500 | uM |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, affects expression | 4 |
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| methyleugenol | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Chenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Endosulfan | affects cotreatment, decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Glycocholic Acid | affects cotreatment, decreases expression | 1 |
| Glycodeoxycholic Acid | decreases expression, affects cotreatment | 1 |
| Methapyrilene | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Triclosan | affects cotreatment, decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Isotretinoin | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Palmitic Acid | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2175908 | Binding | Inhibition of human Hao2-mediated oxidation of 2-hydroxyoctanoic acid assessed as proportionate release of H2O2 at 10 uM | Discovery of pyrazole carboxylic acids as potent inhibitors of rat long chain L-2-hydroxy acid oxidase. — Bioorg Med Chem Lett |
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.