ACOXL
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Also known as FLJ11042ACOX4
Summary
ACOXL (acyl-CoA oxidase like, HGNC:25621) is a protein-coding gene on chromosome 2q13, encoding Acyl-coenzyme A oxidase-like protein (Q9NUZ1).
Predicted to enable acyl-CoA oxidase activity; fatty acid binding activity; and flavin adenine dinucleotide binding activity. Predicted to be involved in fatty acid beta-oxidation using acyl-CoA oxidase. Predicted to be located in peroxisomal matrix. Predicted to be active in peroxisome.
Source: NCBI Gene 55289 — RefSeq curated summary.
At a glance
- GWAS associations: 92
- Clinical variants (ClinVar): 158 total — 15 pathogenic, 6 likely-pathogenic
- MANE Select transcript:
NM_001142807
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25621 |
| Approved symbol | ACOXL |
| Name | acyl-CoA oxidase like |
| Location | 2q13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11042, ACOX4 |
| Ensembl gene | ENSG00000153093 |
| Ensembl biotype | protein_coding |
| Entrez | 55289 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 26 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000340561, ENST00000389811, ENST00000417074, ENST00000433706, ENST00000439055, ENST00000441974, ENST00000443586, ENST00000448863, ENST00000461340, ENST00000496981, ENST00000676595, ENST00000903107, ENST00000930157, ENST00000930158, ENST00000930159, ENST00000930160, ENST00000930161, ENST00000930162, ENST00000930163, ENST00000930164, ENST00000957114, ENST00000957115, ENST00000957116, ENST00000957117, ENST00000957118, ENST00000957119, ENST00000957120, ENST00000957121, ENST00000957122
RefSeq mRNA: 3 — MANE Select: NM_001142807
NM_001142807, NM_001365487, NM_001371254
CCDS: CCDS42730, CCDS46389, CCDS92841
Canonical transcript exons
ENST00000439055 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001008795 | 110987108 | 110987217 |
| ENSE00001008796 | 110933489 | 110933642 |
| ENSE00001008797 | 110841371 | 110841405 |
| ENSE00001008799 | 110995893 | 110996004 |
| ENSE00001008800 | 111031627 | 111031714 |
| ENSE00001008801 | 110805263 | 110805395 |
| ENSE00001008805 | 110908789 | 110908905 |
| ENSE00001146517 | 110801652 | 110801724 |
| ENSE00001514654 | 110732573 | 110732774 |
| ENSE00001693594 | 110799014 | 110799100 |
| ENSE00002444491 | 110798610 | 110798724 |
| ENSE00002450006 | 110794076 | 110794174 |
| ENSE00002470533 | 110784732 | 110784815 |
| ENSE00002519011 | 110793650 | 110793736 |
| ENSE00002708869 | 110768368 | 110768464 |
| ENSE00003495323 | 111092865 | 111092966 |
| ENSE00003541999 | 111049218 | 111049288 |
| ENSE00003905097 | 111117616 | 111118548 |
Expression profiles
Bgee: expression breadth ubiquitous, 168 present calls, max score 82.58.
FANTOM5 (CAGE): breadth broad, TPM avg 0.7201 / max 47.5041, expressed in 190 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21935 | 0.5531 | 146 |
| 21934 | 0.0685 | 40 |
| 21937 | 0.0503 | 29 |
| 202341 | 0.0256 | 18 |
| 21938 | 0.0226 | 19 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.58 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.33 | gold quality |
| buccal mucosa cell | CL:0002336 | 78.40 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 73.81 | gold quality |
| upper lobe of lung | UBERON:0008948 | 73.78 | gold quality |
| visceral pleura | UBERON:0002401 | 73.43 | gold quality |
| lower lobe of lung | UBERON:0008949 | 72.68 | silver quality |
| apex of heart | UBERON:0002098 | 71.28 | gold quality |
| right lung | UBERON:0002167 | 70.83 | gold quality |
| left testis | UBERON:0004533 | 70.77 | gold quality |
| right testis | UBERON:0004534 | 70.77 | gold quality |
| lung | UBERON:0002048 | 69.90 | gold quality |
| testis | UBERON:0000473 | 68.88 | gold quality |
| urinary bladder | UBERON:0001255 | 68.80 | gold quality |
| secondary oocyte | CL:0000655 | 68.62 | gold quality |
| mucosa of stomach | UBERON:0001199 | 67.82 | gold quality |
| gastrocnemius | UBERON:0001388 | 67.71 | gold quality |
| muscle of leg | UBERON:0001383 | 66.47 | gold quality |
| right coronary artery | UBERON:0001625 | 66.37 | gold quality |
| tibial artery | UBERON:0007610 | 65.44 | gold quality |
| popliteal artery | UBERON:0002250 | 65.43 | gold quality |
| prostate gland | UBERON:0002367 | 65.29 | gold quality |
| cauda epididymis | UBERON:0004360 | 65.25 | gold quality |
| right atrium auricular region | UBERON:0006631 | 64.82 | gold quality |
| stromal cell of endometrium | CL:0002255 | 64.31 | gold quality |
| corpus epididymis | UBERON:0004359 | 63.84 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 63.67 | gold quality |
| bone marrow cell | CL:0002092 | 63.60 | silver quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 63.29 | gold quality |
| cardiac atrium | UBERON:0002081 | 63.28 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 16.28 |
| E-ENAD-27 | no | 27.18 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- The study identified two proteins, TMEM79 and ACOXL, with potential to differentiate between benign and cancerous prostatic glands in tissue biopsies. (PMID:26237329)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | acoxl | ENSDARG00000020149 |
| mus_musculus | Acoxl | ENSMUSG00000027380 |
| rattus_norvegicus | Acoxl | ENSRNOG00000016179 |
| caenorhabditis_elegans | acox-1.1 | WBGENE00008564 |
| caenorhabditis_elegans | acox-1.2 | WBGENE00008565 |
| caenorhabditis_elegans | acox-1.3 | WBGENE00008566 |
| caenorhabditis_elegans | acox-1.4 | WBGENE00008567 |
| caenorhabditis_elegans | WBGENE00015894 | |
| caenorhabditis_elegans | acdh-1 | WBGENE00016943 |
| caenorhabditis_elegans | WBGENE00019406 | |
| caenorhabditis_elegans | WBGENE00020366 |
Paralogs (14): ACADVL (ENSG00000072778), ACOX3 (ENSG00000087008), GCDH (ENSG00000105607), ACAD10 (ENSG00000111271), ACADL (ENSG00000115361), ACADM (ENSG00000117054), ACADS (ENSG00000122971), IVD (ENSG00000128928), ACAD8 (ENSG00000151498), ACOX1 (ENSG00000161533), ACOX2 (ENSG00000168306), ACAD9 (ENSG00000177646), ACADSB (ENSG00000196177), ACAD11 (ENSG00000240303)
Protein
Protein identifiers
Acyl-coenzyme A oxidase-like protein — Q9NUZ1 (reviewed: Q9NUZ1)
All UniProt accessions (7): Q9NUZ1, A0A0C4DG10, A0A7I2V3X2, C9JQI3, H7C0A6, H7C2M3, H7C345
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the acyl-CoA oxidase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUZ1-1 | 1 | yes |
| Q9NUZ1-2 | 2 | |
| Q9NUZ1-3 | 3 | |
| Q9NUZ1-4 | 4 |
RefSeq proteins (3): NP_001136279, NP_001352416, NP_001358183 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002655 | Acyl-CoA_oxidase_C | Domain |
| IPR006091 | AcylCoA_DH/ox_M | Domain |
| IPR009100 | AcylCoA_DH/oxidase_NM_dom_sf | Homologous_superfamily |
| IPR012258 | Acyl-CoA_oxidase | Family |
| IPR036250 | AcylCo_DH-like_C | Homologous_superfamily |
| IPR046373 | Acyl-CoA_Oxase/DH_mid-dom_sf | Homologous_superfamily |
| IPR055060 | ACOX_C_alpha1 | Domain |
Pfam: PF01756, PF02770, PF22924
UniProt features (10 total): splice variant 4, sequence variant 2, sequence conflict 2, chain 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUZ1-F1 | 92.00 | 0.79 |
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 (1): 350–355
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-389887 | Beta-oxidation of pristanoyl-CoA |
| R-HSA-1430728 | Metabolism |
| R-HSA-390918 | Peroxisomal lipid metabolism |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-8978868 | Fatty acid metabolism |
MSigDB gene sets: 103 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, RORA1_01, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_OXIDASE, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, AACTTT_UNKNOWN, GOBP_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GOBP_LIPID_OXIDATION
GO Biological Process (4): fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540), fatty acid metabolic process (GO:0006631), fatty acid beta-oxidation (GO:0006635), biological_process (GO:0008150)
GO Molecular Function (7): acyl-CoA oxidase activity (GO:0003997), fatty acid binding (GO:0005504), flavin adenine dinucleotide binding (GO:0050660), FAD binding (GO:0071949), molecular_function (GO:0003674), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)
GO Cellular Component (3): peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cellular_component (GO:0005575)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Peroxisomal lipid metabolism | 1 |
| Fatty acid metabolism | 1 |
| Metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid beta-oxidation | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| fatty acid catabolic process | 1 |
| fatty acid ligase activity | 1 |
| fatty acid oxidation | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors, oxygen as acceptor | 1 |
| lipid binding | 1 |
| monocarboxylic acid binding | 1 |
| nucleotide binding | 1 |
| anion binding | 1 |
| flavin adenine dinucleotide binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity | 1 |
| microbody | 1 |
| peroxisome | 1 |
| microbody lumen | 1 |
Protein interactions and networks
STRING
1856 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACOXL | TMEM87B | Q96K49 | 503 |
| ACOXL | ANAPC1 | Q9H1A4 | 466 |
| ACOXL | CFAP299 | Q6V702 | 464 |
| ACOXL | ZC3H6 | P61129 | 451 |
| ACOXL | C11orf21 | Q9P2W6 | 447 |
| ACOXL | SP140 | Q13342 | 418 |
| ACOXL | LRRC32 | Q14392 | 396 |
| ACOXL | PPARA | Q07869 | 394 |
| ACOXL | FBLN7 | Q53RD9 | 393 |
| ACOXL | ACACA | Q13085 | 390 |
| ACOXL | PPARG | P37231 | 379 |
| ACOXL | FASN | P49327 | 379 |
| ACOXL | ZC3H8 | Q8N5P1 | 365 |
| ACOXL | ACSL3 | O95573 | 364 |
| ACOXL | BCL2L11 | O43521 | 364 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): ACOXL (Synthetic Lethality), ACOXL (Affinity Capture-MS), ACOXL (Affinity Capture-MS)
ESM2 similar proteins: B1H369, O00764, O35331, O35969, O80526, O95045, P10867, P10868, P11172, P33124, P50554, P58710, P61922, P80404, P81799, Q05B63, Q15124, Q28DS0, Q2KIG0, Q2QNG7, Q2QZ86, Q3SZM9, Q3T067, Q3U129, Q3ZC33, Q4R4U1, Q5I0K3, Q5R5C9, Q5R5F8, Q5RFI8, Q5ZID6, Q6AY30, Q7SXM0, Q8BZF8, Q8HXW0, Q8K183, Q8N0X4, Q8NBX0, Q8R127, Q8R4N0
Diamond homologs: O02767, O15254, O62137, O62138, O62139, O62140, O64894, O65201, O65202, O74934, O74935, O74936, P07872, P34355, P97562, Q15067, Q3SZP5, Q54GQ6, Q5RAU0, Q5RC19, Q63448, Q6FY63, Q7KML2, Q8HYL8, Q99424, Q9EPL9, Q9NUZ1, Q9QXD1, Q9R0H0, Q9Z1N0, Q9ZQP2, P0CZ23, Q20992, Q756A9, Q9DBS4, Q9LMI7, P06598, P08790, Q6BRD5, Q8HXX8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
158 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 15 |
| Likely pathogenic | 6 |
| Uncertain significance | 111 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (21)
| Variant ID | HGVS | Classification |
|---|---|---|
| 149662 | GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 | Pathogenic |
| 1705942 | GRCh37/hg19 2q13(chr2:111365995-113199850)x3 | Pathogenic |
| 219044 | GRCh37/hg19 2q13(chr2:111398336-113101220)x1 | Pathogenic |
| 252968 | GRCh37/hg19 2q13(chr2:111392259-113094793)x1 | Pathogenic |
| 253388 | GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 | Pathogenic |
| 253673 | GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 | Pathogenic |
| 3062651 | GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 | Pathogenic |
| 3242293 | GRCh37/hg19 2q13(chr2:111394609-112009912)x1 | Pathogenic |
| 562655 | GRCh37/hg19 2q13(chr2:110980294-113137529)x1 | Pathogenic |
| 562679 | GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 | Pathogenic |
| 625548 | GRCh37/hg19 2q13(chr2:111395351-113102594) | Pathogenic |
| 686485 | GRCh37/hg19 2q13(chr2:111382460-113137975)x3 | Pathogenic |
| 686865 | GRCh37/hg19 2q13(chr2:111382460-113115979)x3 | Pathogenic |
| 687786 | GRCh37/hg19 2q13(chr2:111388619-113199850)x3 | Pathogenic |
| 688671 | GRCh37/hg19 2q13(chr2:111388619-113137529)x3 | Pathogenic |
| 151397 | GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1 | Likely pathogenic |
| 1808613 | GRCh37/hg19 2q13(chr2:111397786-113111856)x3 | Likely pathogenic |
| 1808680 | GRCh37/hg19 2q13(chr2:111365996-113111856)x3 | Likely pathogenic |
| 223093 | NC_000002.12:g.(?110649261)(112345017_?)del | Likely pathogenic |
| 560135 | Single allele | Likely pathogenic |
| 625831 | GRCh37/hg19 2q13(chr2:111395603-113251000) | Likely pathogenic |
SpliceAI
4740 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:110768362:TCACA:T | acceptor_loss | 1.0000 |
| 2:110768363:CACA:C | acceptor_loss | 1.0000 |
| 2:110768365:CAG:C | acceptor_loss | 1.0000 |
| 2:110768366:AGG:A | acceptor_loss | 1.0000 |
| 2:110768463:TGGTA:T | donor_loss | 1.0000 |
| 2:110768465:G:GG | donor_gain | 1.0000 |
| 2:110768465:GT:G | donor_loss | 1.0000 |
| 2:110793644:TTCCA:T | acceptor_loss | 1.0000 |
| 2:110793645:TCCA:T | acceptor_loss | 1.0000 |
| 2:110793646:CCA:C | acceptor_loss | 1.0000 |
| 2:110793647:CA:C | acceptor_loss | 1.0000 |
| 2:110793648:A:AG | acceptor_gain | 1.0000 |
| 2:110793648:AGTGC:A | acceptor_gain | 1.0000 |
| 2:110793649:G:GA | acceptor_gain | 1.0000 |
| 2:110793649:GT:G | acceptor_gain | 1.0000 |
| 2:110793649:GTGC:G | acceptor_gain | 1.0000 |
| 2:110793649:GTGCG:G | acceptor_gain | 1.0000 |
| 2:110793732:TCCAG:T | donor_loss | 1.0000 |
| 2:110793733:CCAG:C | donor_loss | 1.0000 |
| 2:110793734:CAG:C | donor_loss | 1.0000 |
| 2:110793735:AGGTA:A | donor_loss | 1.0000 |
| 2:110793736:GG:G | donor_loss | 1.0000 |
| 2:110793737:GT:G | donor_loss | 1.0000 |
| 2:110793738:T:A | donor_loss | 1.0000 |
| 2:110794060:ATCT:A | acceptor_gain | 1.0000 |
| 2:110798609:GGA:G | acceptor_gain | 1.0000 |
| 2:110798713:G:GT | donor_gain | 1.0000 |
| 2:110798720:TCAAG:T | donor_loss | 1.0000 |
| 2:110798721:CAAG:C | donor_loss | 1.0000 |
| 2:110798722:AAGGT:A | donor_loss | 1.0000 |
AlphaMissense
3799 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:110799032:T:A | V160D | 0.987 |
| 2:110794097:T:C | F90L | 0.983 |
| 2:110794099:T:A | F90L | 0.983 |
| 2:110794099:T:G | F90L | 0.983 |
| 2:110798613:T:C | F117L | 0.982 |
| 2:110798615:T:A | F117L | 0.982 |
| 2:110798615:T:G | F117L | 0.982 |
| 2:110908799:T:C | F267L | 0.979 |
| 2:110908801:T:A | F267L | 0.979 |
| 2:110908801:T:G | F267L | 0.979 |
| 2:110799096:G:C | K181N | 0.978 |
| 2:110799096:G:T | K181N | 0.978 |
| 2:110793671:T:C | F61L | 0.975 |
| 2:110793673:T:A | F61L | 0.975 |
| 2:110793673:T:G | F61L | 0.975 |
| 2:110799041:G:C | R163P | 0.973 |
| 2:110801700:T:A | I199K | 0.973 |
| 2:110798691:T:C | F143L | 0.969 |
| 2:110798693:T:A | F143L | 0.969 |
| 2:110798693:T:G | F143L | 0.969 |
| 2:110798682:G:C | A140P | 0.968 |
| 2:110794151:G:C | A108P | 0.967 |
| 2:110794110:A:T | E94V | 0.966 |
| 2:110805324:T:C | F228L | 0.965 |
| 2:110805326:C:A | F228L | 0.965 |
| 2:110805326:C:G | F228L | 0.965 |
| 2:110793696:G:A | G69E | 0.963 |
| 2:110801684:T:C | F194L | 0.959 |
| 2:110801686:T:A | F194L | 0.959 |
| 2:110801686:T:G | F194L | 0.959 |
dbSNP variants (sampled 300 via entrez): RS1000011218 (2:111019897 A>G), RS1000011771 (2:111100043 A>T), RS1000013537 (2:111036268 A>G), RS1000017590 (2:111099129 A>G), RS1000017799 (2:110876546 A>G), RS1000027810 (2:110907265 G>A,T), RS1000028159 (2:111088626 A>G,T), RS1000030538 (2:110732428 C>G), RS1000038969 (2:110960493 A>T), RS1000045769 (2:110754034 G>A), RS1000051414 (2:110883482 G>A,C), RS1000059422 (2:110844926 T>C), RS1000070769 (2:110844704 C>A,T), RS1000071385 (2:110968975 T>C), RS1000071924 (2:111010956 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
92 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000224_2 | Chronic lymphocytic leukemia | 2.000000e-10 |
| GCST001134_10 | White blood cell types | 4.000000e-07 |
| GCST001364_7 | IgA nephropathy | 4.000000e-07 |
| GCST001515_15 | Economic and political preferences (immigration/crime) | 4.000000e-06 |
| GCST001765_39 | Red blood cell traits | 4.000000e-11 |
| GCST002073_11 | Chronic lymphocytic leukemia | 4.000000e-17 |
| GCST002073_9 | Chronic lymphocytic leukemia | 2.000000e-18 |
| GCST002299_7 | Chronic lymphocytic leukemia | 5.000000e-15 |
| GCST002318_128 | Rheumatoid arthritis | 9.000000e-09 |
| GCST002318_2 | Rheumatoid arthritis | 3.000000e-08 |
| GCST002415_12 | Colorectal cancer (diet interaction) | 1.000000e-06 |
| GCST003025_20 | Attention function in attention deficit hyperactive disorder | 3.000000e-07 |
| GCST003025_9 | Attention function in attention deficit hyperactive disorder | 2.000000e-06 |
| GCST003468_2 | Chronic lymphocytic leukemia | 5.000000e-20 |
| GCST004146_2 | Chronic lymphocytic leukemia | 2.000000e-27 |
| GCST004601_28 | Red blood cell count | 8.000000e-20 |
| GCST004601_29 | Red blood cell count | 3.000000e-15 |
| GCST004602_90 | Mean corpuscular volume | 8.000000e-25 |
| GCST004602_91 | Mean corpuscular volume | 2.000000e-27 |
| GCST004608_55 | Granulocyte percentage of myeloid white cells | 5.000000e-25 |
| GCST004608_56 | Granulocyte percentage of myeloid white cells | 1.000000e-21 |
| GCST004608_57 | Granulocyte percentage of myeloid white cells | 9.000000e-24 |
| GCST004609_141 | Monocyte percentage of white cells | 1.000000e-31 |
| GCST004609_142 | Monocyte percentage of white cells | 3.000000e-25 |
| GCST004609_143 | Monocyte percentage of white cells | 2.000000e-21 |
| GCST004625_49 | Monocyte count | 7.000000e-20 |
| GCST004625_50 | Monocyte count | 3.000000e-27 |
| GCST004625_51 | Monocyte count | 1.000000e-18 |
| GCST004627_79 | Lymphocyte count | 1.000000e-19 |
| GCST004627_80 | Lymphocyte count | 4.000000e-11 |
EFO canonical traits (28, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005091 | monocyte count |
| EFO:0004827 | economic and social preference |
| EFO:0008111 | diet measurement |
| EFO:0007636 | attention function measurement |
| EFO:0004305 | erythrocyte count |
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004587 | lymphocyte count |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0005128 | albumin:globulin ratio measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0010355 | diacylglycerol 36:2 measurement |
| EFO:0010411 | triacylglycerol 50:4 measurement |
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007984 | platelet component distribution width |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
4 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs73954926 | ACOXL, BCL2L11 | 0.00 | 0 | ||
| rs72836346 | ACOXL, BCL2L11 | 0.00 | 0 | ||
| rs7582030 | ACOXL, BCL2L11 | 0.00 | 0 | ||
| rs72836345 | ACOXL, BCL2L11 | 0.00 | 0 |
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases methylation, affects methylation, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| methylmercuric chloride | 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 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cadmium | decreases expression, decreases reaction | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Selenium | decreases expression, decreases reaction | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cyclosporine | increases methylation | 1 |
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, B-cell chronic lymphocytic leukemia, IgA glomerulonephritis, open-angle glaucoma