CROT
gene geneOn this page
Also known as COT
Summary
CROT (carnitine O-octanoyltransferase, HGNC:2366) is a protein-coding gene on chromosome 7q21.12, encoding Peroxisomal carnitine O-octanoyltransferase (Q9UKG9). Beta-oxidation of fatty acids.
This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.
Source: NCBI Gene 54677 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 39 total
- Druggable target: yes
- MANE Select transcript:
NM_021151
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2366 |
| Approved symbol | CROT |
| Name | carnitine O-octanoyltransferase |
| Location | 7q21.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | COT |
| Ensembl gene | ENSG00000005469 |
| Ensembl biotype | protein_coding |
| OMIM | 606090 |
| Entrez | 54677 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 3 retained_intron
ENST00000331536, ENST00000412227, ENST00000419147, ENST00000442291, ENST00000469785, ENST00000479014, ENST00000488850, ENST00000881399, ENST00000881400, ENST00000881401, ENST00000947266
RefSeq mRNA: 3 — MANE Select: NM_021151
NM_001143935, NM_001243745, NM_021151
CCDS: CCDS47634, CCDS5604, CCDS59062
Canonical transcript exons
ENST00000331536 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000703802 | 87392948 | 87393067 |
| ENSE00000703806 | 87392730 | 87392823 |
| ENSE00000703810 | 87392566 | 87392644 |
| ENSE00000703814 | 87391589 | 87391712 |
| ENSE00000703817 | 87382413 | 87382543 |
| ENSE00000703819 | 87382074 | 87382181 |
| ENSE00000703829 | 87375828 | 87375953 |
| ENSE00000703832 | 87375632 | 87375725 |
| ENSE00000703835 | 87369376 | 87369484 |
| ENSE00000703841 | 87361390 | 87361571 |
| ENSE00000703844 | 87359206 | 87359330 |
| ENSE00000877143 | 87349048 | 87349183 |
| ENSE00001016681 | 87346340 | 87346430 |
| ENSE00001318633 | 87398524 | 87399794 |
| ENSE00001913179 | 87345664 | 87345767 |
| ENSE00003472071 | 87381910 | 87381993 |
| ENSE00003526250 | 87361728 | 87361852 |
| ENSE00003682267 | 87377349 | 87377450 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 95.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9320 / max 185.4348, expressed in 1642 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79393 | 3.8449 | 1526 |
| 79394 | 1.8295 | 878 |
| 79395 | 0.8436 | 387 |
| 79396 | 0.4140 | 192 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| esophagus squamous epithelium | UBERON:0006920 | 95.66 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 95.35 | gold quality |
| seminal vesicle | UBERON:0000998 | 95.33 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.27 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 94.79 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 94.74 | gold quality |
| squamous epithelium | UBERON:0006914 | 94.73 | gold quality |
| upper leg skin | UBERON:0004262 | 94.22 | gold quality |
| duodenum | UBERON:0002114 | 93.35 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 92.88 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.78 | gold quality |
| urethra | UBERON:0000057 | 92.73 | gold quality |
| hair follicle | UBERON:0002073 | 92.52 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.15 | gold quality |
| cervix epithelium | UBERON:0004801 | 92.01 | gold quality |
| gingiva | UBERON:0001828 | 91.78 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.43 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.36 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.35 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.26 | gold quality |
| jejunum | UBERON:0002115 | 91.26 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 91.19 | gold quality |
| mammalian vulva | UBERON:0000997 | 91.13 | gold quality |
| thyroid gland | UBERON:0002046 | 90.89 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.31 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.19 | gold quality |
| oral cavity | UBERON:0000167 | 90.16 | gold quality |
| skin of hip | UBERON:0001554 | 89.83 | gold quality |
| urinary bladder | UBERON:0001255 | 89.73 | gold quality |
| parietal pleura | UBERON:0002400 | 89.73 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting CROT, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
Literature-anchored findings (GeneRIF, showing 6)
- CROT encodes carnitine octanoyltransferase, an enzyme known from rat studies to act on products of peroxisomal fatty acid oxidation. Medium-chain acylcarnitines are thought to be transported from peroxisomes to mitochondria. (PMID:11001805)
- Human CPT1A, CPT1B, CPT2, CROT and CRAT are known to encode active carnitine acyltransferases. Earlier pfam annotations refer to the non-existing compound CARNITATE. In 2000 this has been changed to CARNITINE. (PMID:11001805)
- Selected ‘Tpl2/Cot-YL ribozyme’ efficiently cleaves its target sequence in cis and in trans; furthermore, the ribozyme efficiently cleaves a longer target sequence of 54 nucleotides in trans, as well as the full-length mRNA. (PMID:19054068)
- These results suggest that CROT activity, by controlling the peroxisomal amount of medium chain acyls, may control the peroxisomal oxidative pathway. (PMID:21619872)
- CROT (Carnitine O-Octanoyltransferase) Is a Novel Contributing Factor in Vascular Calcification via Promoting Fatty Acid Metabolism and Mitochondrial Dysfunction. (PMID:33356393)
- Carnitine octanoyltransferase is important for the assimilation of exogenous acetyl-L-carnitine into acetyl-CoA in mammalian cells. (PMID:36587768)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | crot | ENSDARG00000040352 |
| mus_musculus | Crot | ENSMUSG00000003623 |
| rattus_norvegicus | Crot | ENSRNOG00000006779 |
| drosophila_melanogaster | CROT | FBGN0039543 |
| caenorhabditis_elegans | WBGENE00009622 | |
| caenorhabditis_elegans | WBGENE00011850 |
Paralogs (6): CHAT (ENSG00000070748), CRAT (ENSG00000095321), CPT1A (ENSG00000110090), CPT2 (ENSG00000157184), CPT1C (ENSG00000169169), CPT1B (ENSG00000205560)
Protein
Protein identifiers
Peroxisomal carnitine O-octanoyltransferase — Q9UKG9 (reviewed: Q9UKG9)
All UniProt accessions (2): Q9UKG9, C9J3D7
UniProt curated annotations — full annotation on UniProt →
Function. Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester.
Subunit / interactions. Monomer.
Subcellular location. Peroxisome.
Pathway. Lipid metabolism; fatty acid beta-oxidation.
Similarity. Belongs to the carnitine/choline acetyltransferase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UKG9-1 | 1 | yes |
| Q9UKG9-2 | 2 | |
| Q9UKG9-3 | 3 |
RefSeq proteins (3): NP_001137407, NP_001230674, NP_066974* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000542 | Carn_acyl_trans | Family |
| IPR023213 | CAT-like_dom_sf | Homologous_superfamily |
| IPR039551 | Cho/carn_acyl_trans_1_2 | Domain |
| IPR042231 | Cho/carn_acyl_trans_2 | Homologous_superfamily |
| IPR042572 | Carn_acyl_trans_N | Homologous_superfamily |
Pfam: PF00755
Enzyme classification (BRENDA):
- EC 2.3.1.137 — carnitine O-octanoyltransferase (BRENDA: 12 organisms, 103 substrates, 23 inhibitors, 63 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
19 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| DECANOYL-COA | 0.0002–0.794 | 21 |
| L-CARNITINE | 0.0948–160 | 16 |
| PALMITOYL-COA | 0.0005–0.6 | 5 |
| ACETYL-COA | 0.077–16 | 3 |
| ACYL-COA | 0.002–0.034 | 3 |
| OCTANOYL-COA | 0.015–0.024 | 2 |
| ACETYL-L-CARNITINE | 0.783 | 1 |
| BUTYRYL-COA | 0.058 | 1 |
| CHOLINE | 143 | 1 |
| COA | 0.0074 | 1 |
| COASH | 0.11 | 1 |
| DECANOYL-L-CARNITINE | 8.4 | 1 |
| HEXADECANOYL-L-CARNITINE | 0.036 | 1 |
| HEXANOYL-COA | 0.055 | 1 |
| L-ACYLCARNITINE | 0.0074 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- octanoyl-CoA + (R)-carnitine = O-octanoyl-(R)-carnitine + CoA (RHEA:17177)
- 4,8-dimethylnonanoyl-CoA + (R)-carnitine = O-4,8-dimethylnonanoyl-(R)-carnitine + CoA (RHEA:44860)
UniProt features (20 total): modified residue 5, binding site 5, splice variant 3, sequence variant 2, sequence conflict 2, chain 1, short sequence motif 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKG9-F1 | 97.22 | 0.98 |
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): 327 (proton acceptor)
Ligand- & substrate-binding residues (5): 406; 410–417; 439; 441; 452
Post-translational modifications (5): 57, 406, 406, 1, 40
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-389887 | Beta-oxidation of pristanoyl-CoA |
| R-HSA-9033241 | Peroxisomal protein import |
MSigDB gene sets: 234 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_COENZYME_A_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_OXIDASE, NF1_Q6_01
GO Biological Process (9): generation of precursor metabolites and energy (GO:0006091), fatty acid metabolic process (GO:0006631), fatty acid beta-oxidation (GO:0006635), carnitine metabolic process (GO:0009437), fatty acid transport (GO:0015908), coenzyme A metabolic process (GO:0015936), fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540), medium-chain fatty acid metabolic process (GO:0051791), lipid metabolic process (GO:0006629)
GO Molecular Function (4): carnitine O-octanoyltransferase activity (GO:0008458), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (3): peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Peroxisomal lipid metabolism | 1 |
| Protein localization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| fatty acid catabolic process | 1 |
| fatty acid ligase activity | 1 |
| fatty acid oxidation | 1 |
| amino-acid betaine metabolic process | 1 |
| lipid transport | 1 |
| monocarboxylic acid transport | 1 |
| nucleoside phosphate metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| purine-containing compound metabolic process | 1 |
| fatty acid beta-oxidation | 1 |
| fatty acid metabolic process | 1 |
| primary metabolic process | 1 |
| carnitine O-acyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| microbody | 1 |
| peroxisome | 1 |
| microbody lumen | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
917 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CROT | HADHB | P55084 | 777 |
| CROT | HADH | Q16836 | 706 |
| CROT | SREBF2 | Q12772 | 622 |
| CROT | ABCA1 | O95477 | 614 |
| CROT | ECHS1 | P30084 | 593 |
| CROT | NPC1 | O15118 | 570 |
| CROT | SREBF1 | P36956 | 567 |
| CROT | ABCG1 | P45844 | 554 |
| CROT | ACAA1 | P09110 | 542 |
| CROT | RUNDC3B | Q96NL0 | 538 |
| CROT | PRKAA1 | Q13131 | 529 |
| CROT | ATP8B1 | O43520 | 497 |
| CROT | ACOX3 | O15254 | 487 |
| CROT | ECH1 | Q13011 | 483 |
| CROT | SLC25A20 | O43772 | 483 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ALB | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| CROT | FBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CD36 | TTMP | psi-mi:“MI:0914”(association) | 0.350 |
| GAS2L2 | ANKRD17 | psi-mi:“MI:0914”(association) | 0.350 |
| CROT | KLHDC4 | psi-mi:“MI:0914”(association) | 0.350 |
| FECH | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CAT | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (25): VWA9 (Affinity Capture-MS), EIF2AK4 (Affinity Capture-MS), KLHDC4 (Affinity Capture-MS), USP25 (Affinity Capture-MS), CROT (Affinity Capture-MS), KLHDC4 (Affinity Capture-MS), USP25 (Affinity Capture-MS), FBP1 (Affinity Capture-MS), EIF2AK4 (Affinity Capture-MS), GATAD2B (Affinity Capture-MS), CROT (Proximity Label-MS), CROT (Proximity Label-MS), CROT (Affinity Capture-MS), CROT (Affinity Capture-MS), USP25 (Affinity Capture-MS)
ESM2 similar proteins: A2RTX5, A2Z8S0, B2ZGJ1, F1LN46, O19094, P07668, P11035, P11466, P13222, P17569, P18886, P23786, P28329, P32198, P32738, P32756, P32796, P36859, P43155, P47934, P49696, P50416, P52825, P52826, P56523, P80235, P97742, Q03059, Q0V9S0, Q2KJB7, Q58DK1, Q5U3U3, Q60HG9, Q63704, Q68Y62, Q6P4X5, Q704S8, Q75G68, Q7ZXE1, Q80VY9
Diamond homologs: B2ZGJ1, O19094, P11466, P13222, P18886, P32198, P32738, P43155, P47934, P52825, P52826, Q704S8, Q9DC50, Q9UKG9, P28329, P50416, P97742, Q03059, Q8HY46, Q92523, P23786, P80235, Q2KJB7, Q5U3U3, Q60HG9, Q6P4X5, Q7ZXE1, F1LN46, P07668, P32756, P32796, Q58DK1, Q63704, Q68Y62, Q90YJ9, Q924X2, Q8BGD5, Q8TCG5, Q00614
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2437 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:87346338:A:AG | acceptor_gain | 1.0000 |
| 7:87346339:G:GG | acceptor_gain | 1.0000 |
| 7:87346427:ACTGG:A | donor_loss | 1.0000 |
| 7:87346429:TGGTA:T | donor_loss | 1.0000 |
| 7:87346430:GGT:G | donor_loss | 1.0000 |
| 7:87346431:G:GA | donor_loss | 1.0000 |
| 7:87346432:T:G | donor_loss | 1.0000 |
| 7:87349043:TTTA:T | acceptor_loss | 1.0000 |
| 7:87349044:TTAGG:T | acceptor_loss | 1.0000 |
| 7:87349045:TAGG:T | acceptor_loss | 1.0000 |
| 7:87349046:A:AG | acceptor_gain | 1.0000 |
| 7:87349046:AG:A | acceptor_gain | 1.0000 |
| 7:87349047:G:GC | acceptor_loss | 1.0000 |
| 7:87349047:G:GG | acceptor_gain | 1.0000 |
| 7:87349047:GG:G | acceptor_gain | 1.0000 |
| 7:87349180:TCAGG:T | donor_loss | 1.0000 |
| 7:87349184:G:GA | donor_loss | 1.0000 |
| 7:87349184:G:GG | donor_gain | 1.0000 |
| 7:87349185:T:G | donor_loss | 1.0000 |
| 7:87359204:A:AG | acceptor_gain | 1.0000 |
| 7:87359205:G:GG | acceptor_gain | 1.0000 |
| 7:87359205:GT:G | acceptor_gain | 1.0000 |
| 7:87359317:G:GT | donor_gain | 1.0000 |
| 7:87359318:A:T | donor_gain | 1.0000 |
| 7:87359323:GAAAT:G | donor_gain | 1.0000 |
| 7:87359327:T:G | donor_gain | 1.0000 |
| 7:87359327:T:TG | donor_gain | 1.0000 |
| 7:87361501:G:GT | donor_gain | 1.0000 |
| 7:87361502:A:T | donor_gain | 1.0000 |
| 7:87361523:G:GT | donor_gain | 1.0000 |
AlphaMissense
4027 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:87377388:T:A | W306R | 0.997 |
| 7:87377388:T:C | W306R | 0.997 |
| 7:87391638:C:A | R451S | 0.997 |
| 7:87391639:G:C | R451P | 0.997 |
| 7:87392979:A:C | S544R | 0.997 |
| 7:87392981:T:A | S544R | 0.997 |
| 7:87392981:T:G | S544R | 0.997 |
| 7:87375832:G:C | R252P | 0.996 |
| 7:87391680:T:A | W465R | 0.996 |
| 7:87391680:T:C | W465R | 0.996 |
| 7:87359328:T:A | W80R | 0.995 |
| 7:87359328:T:C | W80R | 0.995 |
| 7:87375637:T:C | L221P | 0.995 |
| 7:87375717:T:A | W248R | 0.995 |
| 7:87375717:T:C | W248R | 0.995 |
| 7:87375891:A:C | S272R | 0.995 |
| 7:87375893:T:A | S272R | 0.995 |
| 7:87375893:T:G | S272R | 0.995 |
| 7:87361402:T:A | W85R | 0.994 |
| 7:87361402:T:C | W85R | 0.994 |
| 7:87361825:G:C | D174H | 0.994 |
| 7:87377394:G:C | D308H | 0.994 |
| 7:87381923:A:T | D331V | 0.994 |
| 7:87391636:G:A | G450D | 0.994 |
| 7:87369424:G:C | R199P | 0.993 |
| 7:87377390:G:C | W306C | 0.993 |
| 7:87377390:G:T | W306C | 0.993 |
| 7:87391609:C:T | T441I | 0.993 |
| 7:87392980:G:T | S544I | 0.993 |
| 7:87381912:T:A | H327Q | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000088915 (7:87389713 T>A,C), RS1000158745 (7:87358338 C>T), RS1000198256 (7:87368314 T>A), RS1000198773 (7:87377287 A>G), RS1000468452 (7:87346069 G>A), RS1000541873 (7:87369995 A>G), RS1000651115 (7:87350477 G>A), RS1000654141 (7:87376930 G>A), RS1000719203 (7:87351905 C>T), RS1000792315 (7:87375226 A>G), RS1000804986 (7:87345216 G>A,C), RS1000849009 (7:87389448 AG>A), RS1000893678 (7:87370236 G>A), RS1000927458 (7:87349988 T>C), RS1000934366 (7:87396909 T>C)
Disease associations
OMIM: gene MIM:606090 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004748_126 | Lung cancer | 1.000000e-06 |
| GCST006585_1202 | Blood protein levels | 2.000000e-13 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2206 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
58 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 5 |
| Cyclosporine | decreases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| bisphenol A | increases methylation, decreases expression | 2 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Arsenic | increases methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| 2,4,6-tribromophenol | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| entinostat | decreases expression, affects cotreatment | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5658344 | Binding | Inhibition of COT (unknown origin) at 100 nM relative to control | Selective JAK3 Inhibitors with a Covalent Reversible Binding Mode Targeting a New Induced Fit Binding Pocket. — Cell Chem Biol |
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.