FAXDC2
geneOn this page
Also known as FLJ13758
Summary
FAXDC2 (fatty acid hydroxylase domain containing 2, HGNC:1334) is a protein-coding gene on chromosome 5q33.2, encoding Fatty acid hydroxylase domain-containing protein 2 (Q96IV6). Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression.
Predicted to enable C-4 methylsterol oxidase activity. Involved in positive regulation of megakaryocyte differentiation and positive regulation of protein phosphorylation. Located in cytoplasm.
Source: NCBI Gene 10826 — RefSeq curated summary.
At a glance
- Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 52 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_032385
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1334 |
| Approved symbol | FAXDC2 |
| Name | fatty acid hydroxylase domain containing 2 |
| Location | 5q33.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13758 |
| Ensembl gene | ENSG00000170271 |
| Ensembl biotype | protein_coding |
| OMIM | 619853 |
| Entrez | 10826 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 12 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000326080, ENST00000423554, ENST00000517448, ENST00000517874, ENST00000517938, ENST00000518651, ENST00000519258, ENST00000519501, ENST00000520461, ENST00000520581, ENST00000520968, ENST00000521518, ENST00000522825, ENST00000523997, ENST00000524250, ENST00000524363, ENST00000888401, ENST00000888402, ENST00000888403, ENST00000888404, ENST00000888405, ENST00000962790
RefSeq mRNA: 1 — MANE Select: NM_032385
NM_032385
CCDS: CCDS43390
Canonical transcript exons
ENST00000326080 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001288090 | 154818492 | 154820472 |
| ENSE00002118912 | 154850483 | 154850603 |
| ENSE00003475394 | 154830801 | 154830922 |
| ENSE00003481760 | 154823387 | 154823592 |
| ENSE00003488248 | 154822472 | 154822577 |
| ENSE00003542229 | 154821260 | 154821426 |
| ENSE00003544283 | 154834625 | 154834728 |
| ENSE00003570952 | 154838131 | 154838178 |
| ENSE00003626286 | 154834843 | 154834934 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 97.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0751 / max 1166.5627, expressed in 1347 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 64472 | 10.3791 | 1148 |
| 64467 | 2.0507 | 160 |
| 64468 | 1.8686 | 220 |
| 64466 | 0.9417 | 136 |
| 64473 | 0.6766 | 347 |
| 64469 | 0.4990 | 192 |
| 64465 | 0.2370 | 47 |
| 64474 | 0.1948 | 66 |
| 64464 | 0.1685 | 55 |
| 64471 | 0.0474 | 22 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| inferior vagus X ganglion | UBERON:0005363 | 97.47 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.44 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.97 | silver quality |
| corpus callosum | UBERON:0002336 | 96.75 | gold quality |
| right coronary artery | UBERON:0001625 | 96.70 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 96.61 | gold quality |
| right lung | UBERON:0002167 | 96.45 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.44 | gold quality |
| spinal cord | UBERON:0002240 | 96.35 | gold quality |
| saphenous vein | UBERON:0007318 | 96.08 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.03 | gold quality |
| ventral tegmental area | UBERON:0002691 | 95.49 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.37 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.17 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.11 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 95.05 | gold quality |
| monocyte | CL:0000576 | 95.00 | gold quality |
| mononuclear cell | CL:0000842 | 94.97 | gold quality |
| coronary artery | UBERON:0001621 | 94.97 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.80 | gold quality |
| left coronary artery | UBERON:0001626 | 94.77 | gold quality |
| medulla oblongata | UBERON:0001896 | 94.60 | gold quality |
| synovial joint | UBERON:0002217 | 94.49 | gold quality |
| tibial nerve | UBERON:0001323 | 94.45 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.31 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 94.28 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 94.26 | gold quality |
| liver | UBERON:0002107 | 94.06 | gold quality |
| urethra | UBERON:0000057 | 94.05 | gold quality |
| midbrain | UBERON:0001891 | 94.03 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75367 | yes | 405.19 |
| E-GEOD-99795 | yes | 350.20 |
| E-CURD-112 | yes | 43.15 |
| E-MTAB-10042 | yes | 23.75 |
| E-MTAB-5061 | no | 3.49 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting FAXDC2, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-6743-5P | 99.48 | 63.60 | 721 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-3922-3P | 99.25 | 64.96 | 1136 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-6768-3P | 99.14 | 67.38 | 1319 |
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | faxdc2 | ENSDARG00000023820 |
| mus_musculus | Faxdc2 | ENSMUSG00000086962 |
| rattus_norvegicus | Faxdc2 | ENSRNOG00000027259 |
| drosophila_melanogaster | CG1998 | FBGN0030485 |
| drosophila_melanogaster | CG11162 | FBGN0030509 |
| caenorhabditis_elegans | WBGENE00009902 | |
| caenorhabditis_elegans | WBGENE00009903 |
Paralogs (3): MSMO1 (ENSG00000052802), SC5D (ENSG00000109929), CH25H (ENSG00000138135)
Protein
Protein identifiers
Fatty acid hydroxylase domain-containing protein 2 — Q96IV6 (reviewed: Q96IV6)
All UniProt accessions (9): Q96IV6, E5RFJ7, E5RH66, E5RH84, E5RIK6, E5RJN8, E5RJQ9, E5RK01, E5RK16
UniProt curated annotations — full annotation on UniProt →
Function. Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression.
Subcellular location. Cytoplasm. Membrane.
Tissue specificity. Down-regulated in primary acute myeloid leukemia (AML) patients.
Induction. Up-regulated during 12-O-tetradecanoyl phorbol-acetate (TPA)-induced megakaryocytic differentiation of K562 cells.
Similarity. Belongs to the sterol desaturase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96IV6-1 | 1 | yes |
| Q96IV6-2 | 2 |
RefSeq proteins (1): NP_115761* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006694 | Fatty_acid_hydroxylase | Domain |
| IPR050307 | Sterol_desaturase-rel | Family |
Pfam: PF04116
UniProt features (10 total): transmembrane region 6, chain 1, domain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96IV6-F1 | 92.28 | 0.79 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 125 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_PHOSPHORYLATION, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_HEMOPOIESIS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOBP_REGULATION_OF_MEGAKARYOCYTE_DIFFERENTIATION, DELYS_THYROID_CANCER_DN, GOBP_STEROID_BIOSYNTHETIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION
GO Biological Process (4): positive regulation of protein phosphorylation (GO:0001934), sterol biosynthetic process (GO:0016126), positive regulation of megakaryocyte differentiation (GO:0045654), lipid biosynthetic process (GO:0008610)
GO Molecular Function (4): C-4 methylsterol oxidase activity (GO:0000254), iron ion binding (GO:0005506), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (3): cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| regulation of protein phosphorylation | 1 |
| protein phosphorylation | 1 |
| positive regulation of protein modification process | 1 |
| positive regulation of phosphorylation | 1 |
| steroid biosynthetic process | 1 |
| sterol metabolic process | 1 |
| megakaryocyte differentiation | 1 |
| positive regulation of myeloid cell differentiation | 1 |
| regulation of megakaryocyte differentiation | 1 |
| lipid metabolic process | 1 |
| biosynthetic process | 1 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
1268 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAXDC2 | ZNF134 | P52741 | 576 |
| FAXDC2 | ZNF160 | Q9HCG1 | 526 |
| FAXDC2 | FA2H | Q7L5A8 | 518 |
| FAXDC2 | EFTUD2 | Q15029 | 505 |
| FAXDC2 | TM7SF2 | O76062 | 459 |
| FAXDC2 | STYX | Q8WUJ0 | 450 |
| FAXDC2 | KRTAP19-5 | Q3LI72 | 447 |
| FAXDC2 | A0A0J9YXS1 | A0A0J9YXS1 | 428 |
| FAXDC2 | RETSAT | Q6NUM9 | 419 |
| FAXDC2 | COPZ1 | P61923 | 419 |
| FAXDC2 | FDFT1 | P37268 | 414 |
| FAXDC2 | CYP51A1 | Q16850 | 413 |
| FAXDC2 | H1-10 | Q92522 | 408 |
| FAXDC2 | SLC14A1 | Q13336 | 400 |
| FAXDC2 | TP53 | P04637 | 388 |
IntAct
97 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| FAXDC2 | TMX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX4 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3L1 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| FAXDC2 | TMEM106C | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMPRSS2 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RETREG3 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL13B | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAXDC2 | CGRRF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAXDC2 | ELOVL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLT1A | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC10A1 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5R3 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD79A | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEMP1 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FFAR2 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PGRMC2 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAXDC2 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR152 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAXDC2 | PANX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBP | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC10A6 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPX8 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM139 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN7 | FAXDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (36): FAXDC2 (Two-hybrid), FAXDC2 (Affinity Capture-RNA), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid), FAXDC2 (Two-hybrid)
ESM2 similar proteins: A0JPQ8, A8MWK0, A9SIZ6, B6JWP7, C4QVU3, C4R613, D6WJ77, F1Q8R9, G5ECD6, I1MSF2, O13846, O17554, O31250, O74787, O94298, O94673, P21147, P25338, P68434, P9WNZ8, P9WNZ9, Q03529, Q296J9, Q2LAM0, Q2U0S9, Q4R4P4, Q567X1, Q5GKZ7, Q5M8F9, Q5MPP0, Q5R7H4, Q6GNM0, Q6NYE4, Q6RS96, Q6ZNB7, Q754G0, Q7L5A8, Q8BS35, Q8NKG9, Q8WZK2
Diamond homologs: A0A0D1DT68, B8B6I2, I1RFM2, I1S1Q3, O35532, O75845, P50860, P53045, Q15800, Q4R4Q4, Q4W9I3, Q4WDL3, Q4WIX5, Q55D54, Q5R574, Q5ZLL6, Q69L93, Q6UGB2, Q754B9, Q7SBB6, Q7ZW77, Q8J207, Q96IV6, Q9CRA4, Q9GKT2, A0A0E0SNE8, O13666, O88822, O93875, O94457, P32353, Q39208, Q4WB51, Q59VG6, Q8NJ57, Q9AST3, Q9EQS5, Q9M883, Q9UUH4, Q9ZT29
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1625 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:154820471:ACCTA:A | acceptor_loss | 1.0000 |
| 5:154820472:CCT:C | acceptor_loss | 1.0000 |
| 5:154820473:C:CC | acceptor_gain | 1.0000 |
| 5:154820474:T:C | acceptor_loss | 1.0000 |
| 5:154822470:A:AC | donor_gain | 1.0000 |
| 5:154822470:ACTG:A | donor_gain | 1.0000 |
| 5:154822471:C:CC | donor_gain | 1.0000 |
| 5:154822471:CTG:C | donor_gain | 1.0000 |
| 5:154822471:CTGC:C | donor_gain | 1.0000 |
| 5:154823411:T:TA | donor_gain | 1.0000 |
| 5:154830799:A:AC | donor_gain | 1.0000 |
| 5:154830800:C:CC | donor_gain | 1.0000 |
| 5:154834730:T:C | acceptor_gain | 1.0000 |
| 5:154821254:CCTT:C | donor_loss | 0.9900 |
| 5:154821255:CTT:C | donor_loss | 0.9900 |
| 5:154821256:TTA:T | donor_loss | 0.9900 |
| 5:154821257:TA:T | donor_loss | 0.9900 |
| 5:154821258:A:AC | donor_gain | 0.9900 |
| 5:154821258:A:C | donor_loss | 0.9900 |
| 5:154821259:C:CC | donor_gain | 0.9900 |
| 5:154823381:GCTCA:G | donor_loss | 0.9900 |
| 5:154823382:CTCAC:C | donor_loss | 0.9900 |
| 5:154823383:T:TC | donor_loss | 0.9900 |
| 5:154823384:CAC:C | donor_loss | 0.9900 |
| 5:154823385:A:AC | donor_gain | 0.9900 |
| 5:154823385:A:AT | donor_loss | 0.9900 |
| 5:154823386:C:CC | donor_gain | 0.9900 |
| 5:154823386:C:CT | donor_loss | 0.9900 |
| 5:154823412:C:A | donor_gain | 0.9900 |
| 5:154823521:C:CT | acceptor_gain | 0.9900 |
AlphaMissense
2203 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:154822525:A:G | W209R | 0.992 |
| 5:154822525:A:T | W209R | 0.992 |
| 5:154821267:G:C | H280D | 0.991 |
| 5:154821265:A:C | H280Q | 0.989 |
| 5:154821265:A:T | H280Q | 0.989 |
| 5:154821270:G:C | H279D | 0.989 |
| 5:154823387:C:G | R191P | 0.985 |
| 5:154820409:G:C | F303L | 0.984 |
| 5:154820409:G:T | F303L | 0.984 |
| 5:154820411:A:G | F303L | 0.984 |
| 5:154822534:G:C | H206D | 0.984 |
| 5:154821267:G:T | H280N | 0.983 |
| 5:154821319:G:C | H262Q | 0.983 |
| 5:154821319:G:T | H262Q | 0.983 |
| 5:154820437:T:A | D294V | 0.981 |
| 5:154820438:C:G | D294H | 0.980 |
| 5:154822509:C:T | G214D | 0.980 |
| 5:154820469:G:C | F283L | 0.979 |
| 5:154820469:G:T | F283L | 0.979 |
| 5:154820471:A:G | F283L | 0.979 |
| 5:154821270:G:T | H279N | 0.979 |
| 5:154821312:A:C | Y265D | 0.979 |
| 5:154821357:A:G | W250R | 0.979 |
| 5:154821357:A:T | W250R | 0.979 |
| 5:154822523:C:A | W209C | 0.979 |
| 5:154822523:C:G | W209C | 0.979 |
| 5:154820410:A:G | F303S | 0.978 |
| 5:154820437:T:G | D294A | 0.978 |
| 5:154821318:A:G | C263R | 0.978 |
| 5:154822510:C:G | G214R | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000156060 (5:154833934 C>T), RS1000207924 (5:154842447 A>C,G), RS1000207946 (5:154833627 T>G), RS1000235983 (5:154845140 C>A), RS1000288502 (5:154844829 G>C), RS1000338086 (5:154827103 G>A), RS1000409633 (5:154833911 A>C), RS1000426676 (5:154852332 G>A), RS1000439603 (5:154851892 CAAAAT>C), RS1000510983 (5:154832200 G>A), RS1000604341 (5:154831837 C>T), RS1000621043 (5:154846669 G>A), RS1000643150 (5:154839199 GCCTGTTGTC>G), RS1000786736 (5:154824847 G>C), RS1000836031 (5:154826841 C>T)
Disease associations
OMIM: gene MIM:619853 | disease phenotypes: MIM:209850
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (2): autism (MONDO:0005260), schizophrenia (MONDO:0005090)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003043_99 | Inflammatory bowel disease | 2.000000e-07 |
| GCST003045_44 | Ulcerative colitis | 2.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
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 cotreatment, decreases expression, affects expression | 9 |
| sodium arsenite | decreases expression, increases abundance | 3 |
| Nickel | decreases expression, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| bisphenol A | increases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Cisplatin | affects expression, affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | decreases expression | 1 |
| lei gong teng | increases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Ethanol | affects cotreatment, increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
599 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | PHASE4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | PHASE4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | PHASE4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | PHASE4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | PHASE4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | PHASE4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | PHASE4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | PHASE4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | PHASE4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | PHASE4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | PHASE4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | PHASE4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | PHASE4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | PHASE4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
Related Atlas pages
- Associated diseases: schizophrenia
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autism, schizophrenia, ulcerative colitis