ACOX2
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Also known as BRCACOXBRCOXTHCCox
Summary
ACOX2 (acyl-CoA oxidase 2, HGNC:120) is a protein-coding gene on chromosome 3p14.3, encoding Peroxisomal acyl-coenzyme A oxidase 2 (Q99424). Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids.
The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children.
Source: NCBI Gene 8309 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital bile acid synthesis defect 6 (Definitive, ClinGen)
- GWAS associations: 2
- Clinical variants (ClinVar): 346 total — 1 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_003500
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:120 |
| Approved symbol | ACOX2 |
| Name | acyl-CoA oxidase 2 |
| Location | 3p14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BRCACOX, BRCOX, THCCox |
| Ensembl gene | ENSG00000168306 |
| Ensembl biotype | protein_coding |
| OMIM | 601641 |
| Entrez | 8309 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 25 protein_coding, 5 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000302819, ENST00000459701, ENST00000459888, ENST00000460921, ENST00000466689, ENST00000466810, ENST00000467738, ENST00000474098, ENST00000475143, ENST00000480791, ENST00000481527, ENST00000489472, ENST00000492530, ENST00000900712, ENST00000900713, ENST00000900714, ENST00000900715, ENST00000900716, ENST00000900717, ENST00000900718, ENST00000900719, ENST00000900720, ENST00000900721, ENST00000900722, ENST00000900723, ENST00000900724, ENST00000900725, ENST00000900726, ENST00000900727, ENST00000900728, ENST00000900729, ENST00000900730, ENST00000900731, ENST00000900732, ENST00000943385
RefSeq mRNA: 1 — MANE Select: NM_003500
NM_003500
CCDS: CCDS33775
Canonical transcript exons
ENST00000302819 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001168650 | 58531251 | 58531366 |
| ENSE00001168680 | 58534360 | 58534522 |
| ENSE00001506823 | 58530466 | 58530638 |
| ENSE00001924617 | 58537119 | 58537190 |
| ENSE00003478353 | 58522496 | 58522601 |
| ENSE00003505218 | 58534947 | 58535197 |
| ENSE00003509301 | 58505136 | 58505286 |
| ENSE00003544793 | 58533445 | 58533552 |
| ENSE00003544947 | 58531693 | 58531812 |
| ENSE00003571135 | 58528794 | 58528956 |
| ENSE00003588341 | 58533994 | 58534145 |
| ENSE00003603426 | 58524426 | 58524605 |
| ENSE00003665043 | 58517206 | 58517423 |
| ENSE00003667005 | 58526466 | 58526656 |
| ENSE00003679101 | 58508893 | 58509025 |
Expression profiles
Bgee: expression breadth ubiquitous, 223 present calls, max score 98.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0525 / max 106.3414, expressed in 1136 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42695 | 1.8081 | 726 |
| 42691 | 1.2384 | 483 |
| 42694 | 0.7176 | 390 |
| 42692 | 0.1161 | 53 |
| 42693 | 0.0527 | 14 |
| 42697 | 0.0374 | 14 |
| 42698 | 0.0374 | 15 |
| 42696 | 0.0251 | 10 |
| 42690 | 0.0197 | 10 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 98.78 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 98.00 | gold quality |
| liver | UBERON:0002107 | 96.67 | gold quality |
| apex of heart | UBERON:0002098 | 94.87 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.67 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.53 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.26 | gold quality |
| nephron tubule | UBERON:0001231 | 92.86 | gold quality |
| thyroid gland | UBERON:0002046 | 92.59 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 92.22 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 92.15 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.79 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.67 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.48 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.46 | gold quality |
| body of uterus | UBERON:0009853 | 91.45 | gold quality |
| right coronary artery | UBERON:0001625 | 91.38 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.33 | gold quality |
| lower esophagus | UBERON:0013473 | 91.31 | gold quality |
| small intestine | UBERON:0002108 | 91.24 | gold quality |
| nerve | UBERON:0001021 | 91.18 | gold quality |
| tibial nerve | UBERON:0001323 | 91.18 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.98 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.95 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.66 | gold quality |
| right ovary | UBERON:0002118 | 90.60 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.58 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.51 | gold quality |
| rectum | UBERON:0001052 | 90.44 | gold quality |
| left uterine tube | UBERON:0001303 | 90.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.33 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PPARA
Literature-anchored findings (GeneRIF, showing 5)
- Our results suggest that downregulation of ACOX2 is a shared risk factor for PE and CVD. (PMID:21343950)
- Results found an ACOX2 variant present in a subset of human breast cancers and associated with improved outcome ER+ tumors suggesting it as a potential novel therapeutic biomarker in ER+ breast tumors. (PMID:26183823)
- We have identified by the first time in a young patient and his only sister a familiar genetic defect of an enzyme called ACOX2, which participates in the transformation of cholesterol into bile acids as a cause of increased serum transaminases in the absence of any other symptomatology. (PMID:27884763)
- ACOX2, physiologically responsible for one of the stages in the degradation of branched-chain fatty acids and bile acid, may be a possible genetic risk factor linking Preeclampsia and Related Cardiovascular diseases. (PMID:29971632)
- ACOX2 is a prognostic marker and impedes the progression of hepatocellular carcinoma via PPARalpha pathway. (PMID:33414412)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Acox2 | ENSMUSG00000021751 |
| rattus_norvegicus | Acox2 | ENSRNOG00000007378 |
| drosophila_melanogaster | ACOX1 | FBGN0027572 |
| drosophila_melanogaster | CG4586 | FBGN0029924 |
| drosophila_melanogaster | Acox57D-p | FBGN0034628 |
| drosophila_melanogaster | Acox57D-d | FBGN0034629 |
| 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 | acdh-3 | WBGENE00019433 |
| caenorhabditis_elegans | WBGENE00020366 | |
| caenorhabditis_elegans | acdh-4 | WBGENE00020419 |
Paralogs (14): ACADVL (ENSG00000072778), ACOX3 (ENSG00000087008), GCDH (ENSG00000105607), ACAD10 (ENSG00000111271), ACADL (ENSG00000115361), ACADM (ENSG00000117054), ACADS (ENSG00000122971), IVD (ENSG00000128928), ACAD8 (ENSG00000151498), ACOXL (ENSG00000153093), ACOX1 (ENSG00000161533), ACAD9 (ENSG00000177646), ACADSB (ENSG00000196177), ACAD11 (ENSG00000240303)
Protein
Protein identifiers
Peroxisomal acyl-coenzyme A oxidase 2 — Q99424 (reviewed: Q99424)
Alternative names: 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase, Trihydroxycoprostanoyl-CoA oxidase
All UniProt accessions (6): C9J0G0, C9JY29, Q99424, H7C4Q2, H7C4Y2, H7C573
UniProt curated annotations — full annotation on UniProt →
Function. Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids. Capable of oxidizing short as well as long chain 2-methyl branched fatty acids.
Subunit / interactions. Homodimer.
Subcellular location. Peroxisome.
Tissue specificity. Present in all tissues tested: heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Most abundant in heart, liver and kidney.
Disease relevance. Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308] An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the acyl-CoA oxidase family.
RefSeq proteins (1): NP_003491* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002655 | Acyl-CoA_oxidase_C | Domain |
| IPR009100 | AcylCoA_DH/oxidase_NM_dom_sf | Homologous_superfamily |
| IPR012258 | Acyl-CoA_oxidase | Family |
| IPR029320 | Acyl-CoA_ox_N | Domain |
| IPR036250 | AcylCo_DH-like_C | Homologous_superfamily |
| IPR037069 | AcylCoA_DH/ox_N_sf | Homologous_superfamily |
| IPR046373 | Acyl-CoA_Oxase/DH_mid-dom_sf | Homologous_superfamily |
| IPR055060 | ACOX_C_alpha1 | Domain |
Pfam: PF01756, PF14749, PF22924
Catalyzed reactions (Rhea), 2 shown:
- (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + A + H2O = (24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestan-26-oyl-CoA + AH2 (RHEA:15733)
- (25S)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + O2 = (24E)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-en-26-oyl-CoA + H2O2 (RHEA:46728)
UniProt features (11 total): modified residue 7, sequence variant 2, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99424-F1 | 94.49 | 0.91 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (7): 3, 9, 13, 66, 137, 453, 561
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-193368 | Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol |
| R-HSA-389887 | Beta-oxidation of pristanoyl-CoA |
| R-HSA-9033241 | Peroxisomal protein import |
| R-HSA-1430728 | Metabolism |
| R-HSA-192105 | Synthesis of bile acids and bile salts |
| R-HSA-194068 | Bile acid and bile salt metabolism |
| R-HSA-390918 | Peroxisomal lipid metabolism |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-8957322 | Metabolism of steroids |
| R-HSA-8978868 | Fatty acid metabolism |
| R-HSA-9609507 | Protein localization |
MSigDB gene sets: 215 (showing top):
MODULE_172, GOBP_LIPID_MODIFICATION, MODULE_93, GOBP_FATTY_ACID_CATABOLIC_PROCESS, PAX4_01, KAAB_FAILED_HEART_ATRIUM_DN, GNF2_GSTM1, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, ENK_UV_RESPONSE_KERATINOCYTE_UP, GNF2_HPN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, STOSSI_RESPONSE_TO_ESTRADIOL
GO Biological Process (6): very long-chain fatty acid metabolic process (GO:0000038), bile acid biosynthetic process (GO:0006699), fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), fatty acid beta-oxidation (GO:0006635)
GO Molecular Function (10): acyl-CoA oxidase activity (GO:0003997), fatty acid binding (GO:0005504), 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791), protein homodimerization activity (GO:0042803), flavin adenine dinucleotide binding (GO:0050660), FAD binding (GO:0071949), protein binding (GO:0005515), obsolete palmitoyl-CoA oxidase activity (GO:0016401), 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), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Metabolism of lipids | 2 |
| Synthesis of bile acids and bile salts | 1 |
| Peroxisomal lipid metabolism | 1 |
| Protein localization | 1 |
| Bile acid and bile salt metabolism | 1 |
| Metabolism of steroids | 1 |
| Fatty acid metabolism | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid metabolic process | 1 |
| bile acid metabolic process | 1 |
| monocarboxylic acid biosynthetic process | 1 |
| fatty acid beta-oxidation | 1 |
| primary 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 |
| oxidoreductase activity, acting on the CH-CH group of donors, oxygen as acceptor | 1 |
| lipid binding | 1 |
| monocarboxylic acid binding | 1 |
| oxidoreductase activity, acting on CH or CH2 groups | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| nucleotide binding | 1 |
| anion binding | 1 |
| flavin adenine dinucleotide binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity | 1 |
| microbody | 1 |
| peroxisome | 1 |
| microbody lumen | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2297 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACOX2 | HSD17B4 | P51659 | 845 |
| ACOX2 | EHHADH | Q08426 | 821 |
| ACOX2 | ACAA1 | P09110 | 809 |
| ACOX2 | PEX5 | P50542 | 791 |
| ACOX2 | SCP2 | P22307 | 691 |
| ACOX2 | BAAT | Q14032 | 668 |
| ACOX2 | AMACR | Q9UHK6 | 665 |
| ACOX2 | PPARA | Q07869 | 651 |
| ACOX2 | ECI2 | O75521 | 648 |
| ACOX2 | SLC27A5 | Q9Y2P5 | 626 |
| ACOX2 | ACOT4 | Q8N9L9 | 617 |
| ACOX2 | CPT2 | P23786 | 613 |
| ACOX2 | ACLY | P53396 | 572 |
| ACOX2 | HSD3B7 | Q9H2F3 | 571 |
| ACOX2 | ROGDI | Q9GZN7 | 562 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACOX2 | STRN3 | psi-mi:“MI:0914”(association) | 0.560 |
| DYNLT1 | ACOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACOX2 | STRN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACOX2 | DYNLT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (6): ACOX2 (Biochemical Activity), SLMAP (Affinity Capture-MS), STRN3 (Affinity Capture-MS), ACOX2 (Two-hybrid), STRN3 (Affinity Capture-MS), ACOX2 (Protein-peptide)
ESM2 similar proteins: A4ILL5, A4IT51, A6T0H8, B0CIM5, B2S8A9, B2U7E6, B9JYR4, C0RGH3, C0SPC0, I3VE77, O30372, O62137, O62140, O74935, O86028, O87009, P16332, P22033, P97562, Q1LJV5, Q2YNV6, Q471I2, Q474N8, Q48440, Q4L1M7, Q57160, Q57FQ9, Q59677, Q5L1E2, Q5RFN2, Q5SJP8, Q6F4M8, Q7KML2, Q7MGQ1, Q8DDP0, Q8G340, Q8GMG6, Q8HXX1, Q8MI68, Q8RQQ0
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
346 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 203 |
| Likely benign | 103 |
| Benign | 16 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 375219 | NM_003500.4(ACOX2):c.207T>A (p.Tyr69Ter) | Pathogenic |
| 4849335 | NM_003500.4(ACOX2):c.674G>A (p.Arg225Gln) | Likely pathogenic |
SpliceAI
2445 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:58517201:CT:C | donor_loss | 1.0000 |
| 3:58517202:TCACC:T | donor_loss | 1.0000 |
| 3:58517203:CACCG:C | donor_loss | 1.0000 |
| 3:58517204:A:AC | donor_gain | 1.0000 |
| 3:58517204:ACCG:A | donor_loss | 1.0000 |
| 3:58517205:C:CC | donor_gain | 1.0000 |
| 3:58517422:ACCT:A | acceptor_loss | 1.0000 |
| 3:58517423:CCTA:C | acceptor_loss | 1.0000 |
| 3:58517424:CTACA:C | acceptor_loss | 1.0000 |
| 3:58517425:T:G | acceptor_loss | 1.0000 |
| 3:58522597:TGAGC:T | acceptor_gain | 1.0000 |
| 3:58522603:T:G | acceptor_loss | 1.0000 |
| 3:58524422:TTA:T | donor_loss | 1.0000 |
| 3:58524424:A:T | donor_loss | 1.0000 |
| 3:58524425:CCTTA:C | donor_gain | 1.0000 |
| 3:58524601:GGAAC:G | acceptor_gain | 1.0000 |
| 3:58524602:GAAC:G | acceptor_gain | 1.0000 |
| 3:58524606:C:CA | acceptor_loss | 1.0000 |
| 3:58524606:C:CC | acceptor_gain | 1.0000 |
| 3:58524613:T:C | acceptor_gain | 1.0000 |
| 3:58524613:T:TC | acceptor_gain | 1.0000 |
| 3:58528748:G:C | donor_gain | 1.0000 |
| 3:58528790:GTAC:G | donor_loss | 1.0000 |
| 3:58528791:TACC:T | donor_loss | 1.0000 |
| 3:58528792:ACCTC:A | donor_loss | 1.0000 |
| 3:58528952:GGTCA:G | acceptor_gain | 1.0000 |
| 3:58528953:GTCA:G | acceptor_gain | 1.0000 |
| 3:58528954:TCA:T | acceptor_gain | 1.0000 |
| 3:58528955:CA:C | acceptor_gain | 1.0000 |
| 3:58528955:CAC:C | acceptor_gain | 1.0000 |
AlphaMissense
4440 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:58533523:C:G | A169P | 0.993 |
| 3:58533457:A:G | W191R | 0.992 |
| 3:58533457:A:T | W191R | 0.992 |
| 3:58526549:A:C | S421R | 0.991 |
| 3:58526549:A:T | S421R | 0.991 |
| 3:58526551:T:G | S421R | 0.991 |
| 3:58531722:C:G | R225P | 0.990 |
| 3:58533494:A:C | F178L | 0.990 |
| 3:58533494:A:T | F178L | 0.990 |
| 3:58533496:A:G | F178L | 0.990 |
| 3:58526630:C:A | K394N | 0.989 |
| 3:58526630:C:G | K394N | 0.989 |
| 3:58531737:A:G | F220S | 0.989 |
| 3:58533461:T:A | K189N | 0.989 |
| 3:58533461:T:G | K189N | 0.989 |
| 3:58533495:A:G | F178S | 0.988 |
| 3:58526586:C:G | R409P | 0.986 |
| 3:58526642:G:C | S390R | 0.986 |
| 3:58526642:G:T | S390R | 0.986 |
| 3:58526644:T:G | S390R | 0.986 |
| 3:58533460:A:G | W190R | 0.986 |
| 3:58533460:A:T | W190R | 0.986 |
| 3:58533482:G:C | S182R | 0.985 |
| 3:58533482:G:T | S182R | 0.985 |
| 3:58533484:T:G | S182R | 0.985 |
| 3:58531306:A:G | L255P | 0.984 |
| 3:58531308:G:C | F254L | 0.984 |
| 3:58531308:G:T | F254L | 0.984 |
| 3:58531310:A:G | F254L | 0.984 |
| 3:58531780:C:G | A206P | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000114998 (3:58515324 A>G), RS1000619881 (3:58538087 A>T), RS1000629463 (3:58508464 C>A), RS1000711221 (3:58533762 C>T), RS1000763139 (3:58527396 C>T), RS1000813854 (3:58527709 G>A), RS1000968088 (3:58527362 C>G), RS1000976361 (3:58520971 C>A,T), RS1000979043 (3:58533698 C>T), RS1001057957 (3:58533429 G>A,T), RS1001128401 (3:58513904 G>T), RS1001221289 (3:58536908 C>T), RS1001256262 (3:58528277 C>T), RS1001309977 (3:58528614 G>T), RS1001424304 (3:58521638 A>C)
Disease associations
OMIM: gene MIM:601641 | disease phenotypes: MIM:617308
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital bile acid synthesis defect 6 | Definitive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| congenital bile acid synthesis defect 6 | Definitive | AR |
Mondo (1): congenital bile acid synthesis defect 6 (MONDO:0015015)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_43 | Night sleep phenotypes | 4.000000e-06 |
| GCST005752_36 | Systemic lupus erythematosus | 6.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| Aflatoxin B1 | affects expression, decreases expression | 3 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| 3,19-(2-bromobenzylidene)andrographolide | decreases response to substance, decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate | increases expression | 1 |
| fluorene-9-bisphenol | increases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| pirinixic acid | affects cotreatment, increases expression | 1 |
| chlortoluron | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| propiconazole | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| fludioxonil | decreases expression, affects cotreatment | 1 |
| difenoconazole | affects cotreatment, decreases expression | 1 |
| GW 4064 | affects cotreatment, decreases expression | 1 |
| GW 7647 | affects cotreatment, decreases expression, increases expression | 1 |
| obeticholic acid | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| bisphenol S | increases expression | 1 |
| 3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: congenital bile acid synthesis defect 6
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital bile acid synthesis defect 6, systemic lupus erythematosus