PLEKHA6
geneOn this page
Also known as PEPP3KIAA0969
Summary
PLEKHA6 (pleckstrin homology domain containing A6, HGNC:17053) is a protein-coding gene on chromosome 1q32.1, encoding Pleckstrin homology domain-containing family A member 6 (Q9Y2H5).
At a glance
- Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
- GWAS associations: 19
- Clinical variants (ClinVar): 232 total
- MANE Select transcript:
NM_014935
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17053 |
| Approved symbol | PLEKHA6 |
| Name | pleckstrin homology domain containing A6 |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PEPP3, KIAA0969 |
| Ensembl gene | ENSG00000143850 |
| Ensembl biotype | protein_coding |
| OMIM | 607771 |
| Entrez | 22874 |
Gene structure
Transcript identifiers
Ensembl transcripts: 65 — 63 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000272203, ENST00000414478, ENST00000485632, ENST00000564627, ENST00000637508, ENST00000672625, ENST00000713653, ENST00000713654, ENST00000713655, ENST00000713656, ENST00000713657, ENST00000851083, ENST00000859254, ENST00000859255, ENST00000859256, ENST00000859257, ENST00000859258, ENST00000859259, ENST00000859260, ENST00000859261, ENST00000859262, ENST00000859263, ENST00000859264, ENST00000859265, ENST00000859266, ENST00000859267, ENST00000859268, ENST00000859269, ENST00000859270, ENST00000859271, ENST00000859272, ENST00000859273, ENST00000859274, ENST00000859275, ENST00000859276, ENST00000859277, ENST00000859278, ENST00000859279, ENST00000859280, ENST00000859281, ENST00000859282, ENST00000859283, ENST00000859284, ENST00000859285, ENST00000859286, ENST00000859287, ENST00000859288, ENST00000859289, ENST00000859290, ENST00000859291, ENST00000859292, ENST00000859293, ENST00000859294, ENST00000859295, ENST00000859296, ENST00000859297, ENST00000859298, ENST00000921178, ENST00000921179, ENST00000921180, ENST00000921181, ENST00000921182, ENST00000943169, ENST00000943170, ENST00000943171
RefSeq mRNA: 1 — MANE Select: NM_014935
NM_014935
CCDS: CCDS1444
Canonical transcript exons
ENST00000272203 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000962329 | 204268208 | 204268312 |
| ENSE00000962330 | 204267475 | 204267547 |
| ENSE00000962331 | 204264942 | 204265042 |
| ENSE00000962332 | 204261306 | 204261448 |
| ENSE00000962333 | 204259258 | 204259740 |
| ENSE00000962334 | 204257353 | 204257869 |
| ENSE00000962335 | 204250546 | 204250614 |
| ENSE00000962336 | 204249184 | 204249264 |
| ENSE00000962337 | 204248821 | 204248970 |
| ENSE00000962338 | 204247365 | 204247460 |
| ENSE00000962339 | 204245615 | 204245726 |
| ENSE00000962340 | 204244864 | 204245003 |
| ENSE00000962341 | 204241685 | 204241814 |
| ENSE00000962342 | 204241375 | 204241481 |
| ENSE00001039735 | 204228937 | 204229104 |
| ENSE00001039739 | 204228728 | 204228861 |
| ENSE00001039740 | 204230413 | 204230586 |
| ENSE00001039741 | 204228083 | 204228228 |
| ENSE00001125867 | 204223462 | 204223585 |
| ENSE00001125876 | 204273626 | 204273740 |
| ENSE00001365727 | 204274729 | 204274809 |
| ENSE00003696537 | 204218853 | 204222779 |
| ENSE00003847625 | 204359694 | 204359929 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 92.70.
FANTOM5 (CAGE): breadth broad, TPM avg 7.3004 / max 327.9522, expressed in 746 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16900 | 3.6731 | 332 |
| 16907 | 2.1127 | 275 |
| 16888 | 0.5395 | 247 |
| 16889 | 0.4453 | 154 |
| 16902 | 0.1441 | 65 |
| 16887 | 0.1108 | 38 |
| 16899 | 0.1096 | 57 |
| 16901 | 0.0640 | 40 |
| 16890 | 0.0494 | 16 |
| 16906 | 0.0254 | 8 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.70 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.51 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.98 | gold quality |
| rectum | UBERON:0001052 | 91.75 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.74 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.71 | gold quality |
| endothelial cell | CL:0000115 | 91.36 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.32 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.25 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.15 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.11 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.94 | gold quality |
| apex of heart | UBERON:0002098 | 90.84 | gold quality |
| pituitary gland | UBERON:0000007 | 90.64 | gold quality |
| spinal cord | UBERON:0002240 | 90.50 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.26 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.01 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.40 | gold quality |
| metanephros cortex | UBERON:0010533 | 89.15 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.78 | gold quality |
| cerebellum | UBERON:0002037 | 88.76 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 88.76 | gold quality |
| transverse colon | UBERON:0001157 | 88.29 | gold quality |
| occipital lobe | UBERON:0002021 | 88.18 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.87 | gold quality |
| caudate nucleus | UBERON:0001873 | 87.71 | gold quality |
| cardiac atrium | UBERON:0002081 | 87.71 | gold quality |
| body of stomach | UBERON:0001161 | 87.68 | gold quality |
| stomach | UBERON:0000945 | 87.32 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.07 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-83139 | yes | 8.13 |
| E-ANND-3 | yes | 4.51 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
133 targeting PLEKHA6, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
Literature-anchored findings (GeneRIF, showing 2)
- This study demonistrated that PLEKHA6 polymorphisms are associated with psychopathology and response to treatment in schizophrenic patients. (PMID:24576533)
- PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes ATPase ATP7A to the cell periphery and regulate copper homeostasis. (PMID:34613798)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plekha6 | ENSDARG00000020328 |
| mus_musculus | Plekha6 | ENSMUSG00000041757 |
| rattus_norvegicus | Plekha6 | ENSRNOG00000002907 |
Paralogs (3): PLEKHA5 (ENSG00000052126), PLEKHA4 (ENSG00000105559), PLEKHA7 (ENSG00000166689)
Protein
Protein identifiers
Pleckstrin homology domain-containing family A member 6 — Q9Y2H5 (reviewed: Q9Y2H5)
Alternative names: Phosphoinositol 3-phosphate-binding protein 3
All UniProt accessions (6): Q9Y2H5, A0A1B0GUN5, A0A1B0GW03, A0A5F9ZH45, A0AAQ5BGL2, Q5VTI5
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Highly expressed in heart, kidney and throughout the brain.
RefSeq proteins (1): NP_055750* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR040392 | PKHA4-7_PH | Domain |
| IPR057971 | PKHA4-7_TBCA | Domain |
Pfam: PF00169, PF25541
UniProt features (54 total): modified residue 22, compositionally biased region 10, strand 9, region of interest 7, sequence variant 2, chain 1, domain 1, turn 1, helix 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2D9Y | SOLUTION NMR | |
| 2YRY | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2H5-F1 | 57.15 | 0.18 |
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 (22): 247, 251, 314, 459, 461, 472, 492, 591, 744, 777, 784, 801, 848, 854, 867, 920, 940, 1015, 1017, 1020 …
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1660499 | Synthesis of PIPs at the plasma membrane |
MSigDB gene sets: 176 (showing top):
GCANCTGNY_MYOD_Q6, MAZ_Q6, MEF2_02, CHX10_01, CAGCTG_AP4_Q5, DOANE_RESPONSE_TO_ANDROGEN_DN, USF_01, TGIF_01, OCT1_07, AFP1_Q6, USF_02, AML1_01, CART1_01, CCCNNGGGAR_OLF1_01, CTAWWWATA_RSRFC4_Q2
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| PI Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
456 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLEKHA6 | PLEK2 | Q9NYT0 | 651 |
| PLEKHA6 | PLEK | P08567 | 648 |
| PLEKHA6 | GOLT1A | Q6ZVE7 | 572 |
| PLEKHA6 | ETNK2 | Q9NVF9 | 477 |
| PLEKHA6 | NTRK1 | P04629 | 464 |
| PLEKHA6 | OR2G6 | Q5TZ20 | 448 |
| PLEKHA6 | CTNNB1 | P35222 | 386 |
| PLEKHA6 | PLEKHA4 | Q9H4M7 | 376 |
| PLEKHA6 | SCFD2 | Q8WU76 | 372 |
| PLEKHA6 | SCYL3 | Q8IZE3 | 365 |
| PLEKHA6 | IRGQ | Q8WZA9 | 363 |
| PLEKHA6 | LANCL2 | Q9NS86 | 348 |
| PLEKHA6 | SOX13 | Q9UN79 | 348 |
| PLEKHA6 | CLEC12B | Q2HXU8 | 340 |
| PLEKHA6 | PIK3C2B | O00750 | 337 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBE2Z | PLEKHA6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PFDN1 | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.530 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | psi-mi:“MI:0914”(association) | 0.350 | |
| MYBPHL | CASK | psi-mi:“MI:0914”(association) | 0.350 |
| MAGI1 | CIT | psi-mi:“MI:0914”(association) | 0.350 |
| RIMS1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHA6 | KCTD9 | psi-mi:“MI:0914”(association) | 0.350 |
| ARMC8 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2B | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| NFIB | psi-mi:“MI:0914”(association) | 0.350 | |
| ORF44 | ALYREF | psi-mi:“MI:0914”(association) | 0.350 |
| CDH1 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| EPHA1 | PLEKHA6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UBE2Z | PLEKHA6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLEKHA6 | PLEKHA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (38): PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Proximity Label-MS), PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Affinity Capture-RNA), PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Proximity Label-MS), UBE2Z (Two-hybrid), PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Affinity Capture-MS), PLEKHA6 (Affinity Capture-RNA), PLEKHA6 (Affinity Capture-MS)
ESM2 similar proteins: A0JLT2, A4QNZ7, A5PK23, B1AZP2, F5HSE3, O60293, O75420, O95402, P61129, P78312, P97839, Q03111, Q07FY3, Q08C81, Q08DM1, Q174D3, Q1LVC2, Q32NP7, Q3T044, Q4G0F8, Q5EAY2, Q5F368, Q5R8Q8, Q5U2R6, Q6DD45, Q6DRL8, Q6PEI3, Q7TN02, Q80Z38, Q8C1B1, Q8C1S0, Q8CFT2, Q8CGI1, Q8IVL1, Q8K4J6, Q90YL3, Q90YY5, Q969V6, Q96A73, Q99MR1
Diamond homologs: B6RSP1, D3ZL52, G9CGD6, O08967, O43739, P54644, P60669, P97434, P97696, Q3UIL6, Q5DU31, Q6IQ23, Q6WCQ1, Q6ZNL6, Q7TQG1, Q80UZ0, Q80VL0, Q80YA9, Q86IV4, Q8BH49, Q8C4V1, Q8N264, Q8N4B1, Q8VC98, Q8WWN9, Q8WXI2, Q99KW3, Q9ERE6, Q9ERS5, Q9H4M7, Q9HAU0, Q9HB19, Q9Y2H5, Q9Z1T4, A2A2Y4, A2AD83, A2ALK8, B2RYE5, F1LYQ8, F1P065
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
232 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 196 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4785 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:204228226:ATA:A | acceptor_gain | 1.0000 |
| 1:204228227:TA:T | acceptor_gain | 1.0000 |
| 1:204228229:C:CC | acceptor_gain | 1.0000 |
| 1:204228238:C:CT | acceptor_gain | 1.0000 |
| 1:204228240:C:CT | acceptor_gain | 1.0000 |
| 1:204228827:C:CT | acceptor_gain | 1.0000 |
| 1:204228932:CTCA:C | donor_loss | 1.0000 |
| 1:204228933:TCA:T | donor_loss | 1.0000 |
| 1:204228934:CACC:C | donor_loss | 1.0000 |
| 1:204228935:A:AC | donor_gain | 1.0000 |
| 1:204228935:AC:A | donor_gain | 1.0000 |
| 1:204228935:ACCT:A | donor_gain | 1.0000 |
| 1:204228935:ACCTC:A | donor_gain | 1.0000 |
| 1:204228936:C:CA | donor_gain | 1.0000 |
| 1:204228936:CC:C | donor_gain | 1.0000 |
| 1:204228936:CCT:C | donor_gain | 1.0000 |
| 1:204228936:CCTC:C | donor_gain | 1.0000 |
| 1:204228936:CCTCC:C | donor_gain | 1.0000 |
| 1:204228938:T:TA | donor_gain | 1.0000 |
| 1:204229102:CAC:C | acceptor_gain | 1.0000 |
| 1:204230412:CCA:C | donor_gain | 1.0000 |
| 1:204241482:C:CC | acceptor_gain | 1.0000 |
| 1:204245611:CCA:C | donor_loss | 1.0000 |
| 1:204245612:CAC:C | donor_loss | 1.0000 |
| 1:204245613:A:AC | donor_gain | 1.0000 |
| 1:204245613:ACCTC:A | donor_loss | 1.0000 |
| 1:204245614:C:CC | donor_gain | 1.0000 |
| 1:204245614:C:G | donor_loss | 1.0000 |
| 1:204245614:CCT:C | donor_gain | 1.0000 |
| 1:204245657:T:TA | donor_gain | 1.0000 |
AlphaMissense
6836 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:204248858:A:G | L596P | 1.000 |
| 1:204249197:A:G | L554P | 1.000 |
| 1:204261385:A:G | W149R | 1.000 |
| 1:204261385:A:T | W149R | 1.000 |
| 1:204267526:A:G | W77R | 1.000 |
| 1:204267526:A:T | W77R | 1.000 |
| 1:204268211:T:A | K68N | 1.000 |
| 1:204268211:T:G | K68N | 1.000 |
| 1:204228743:A:G | L957P | 0.999 |
| 1:204228752:A:C | I954S | 0.999 |
| 1:204228752:A:G | I954T | 0.999 |
| 1:204228752:A:T | I954N | 0.999 |
| 1:204247393:A:G | L631P | 0.999 |
| 1:204248829:C:G | A606P | 0.999 |
| 1:204248837:A:G | L603P | 0.999 |
| 1:204248963:A:G | L561P | 0.999 |
| 1:204261383:C:A | W149C | 0.999 |
| 1:204261383:C:G | W149C | 0.999 |
| 1:204261417:A:G | F138S | 0.999 |
| 1:204261424:A:C | Y136D | 0.999 |
| 1:204264942:C:A | K127N | 0.999 |
| 1:204264942:C:G | K127N | 0.999 |
| 1:204264946:A:G | F126S | 0.999 |
| 1:204264996:G:C | F109L | 0.999 |
| 1:204264996:G:T | F109L | 0.999 |
| 1:204264998:A:G | F109L | 0.999 |
| 1:204265006:A:T | L106H | 0.999 |
| 1:204265014:G:C | S103R | 0.999 |
| 1:204265014:G:T | S103R | 0.999 |
| 1:204265016:T:G | S103R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003862 (1:204302827 T>C), RS1000019186 (1:204302289 A>C), RS1000027982 (1:204264549 A>C), RS1000036931 (1:204349505 C>T), RS1000052285 (1:204345028 T>C), RS1000079950 (1:204247836 T>C), RS1000090892 (1:204265844 A>G,T), RS1000101440 (1:204350864 C>G), RS1000124001 (1:204346112 T>C), RS1000125855 (1:204331805 C>T), RS1000135433 (1:204289242 G>A), RS1000186602 (1:204285173 T>C), RS1000188629 (1:204366685 C>T), RS1000201268 (1:204266964 C>T), RS1000205903 (1:204377046 G>A)
Disease associations
OMIM: gene MIM:607771 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (1): schizophrenia (MONDO:0005090)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001841_11 | Palmitoleic acid (16:1n-7) levels | 3.000000e-06 |
| GCST001942_20 | Prostate cancer | 2.000000e-11 |
| GCST004607_208 | Plateletcrit | 2.000000e-12 |
| GCST006922_4 | Regular attendance at a religious group | 3.000000e-08 |
| GCST008359_1 | Response to cognitive-behavioural therapy in anxiety disorder | 7.000000e-07 |
| GCST010796_2654 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_2655 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_2656 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_2657 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-09 |
| GCST012322_13 | Triglyceride levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder | 3.000000e-07 |
| GCST90002383_345 | Hematocrit | 4.000000e-12 |
| GCST90002384_22 | Hemoglobin | 6.000000e-11 |
| GCST90002388_641 | Lymphocyte count | 1.000000e-16 |
| GCST90002393_173 | Monocyte count | 4.000000e-12 |
| GCST90002400_536 | Plateletcrit | 2.000000e-25 |
| GCST90002402_258 | Platelet count | 2.000000e-10 |
| GCST90002402_259 | Platelet count | 5.000000e-23 |
| GCST90002403_58 | Red blood cell count | 4.000000e-10 |
| GCST90016667_13 | Spleen volume | 3.000000e-09 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
| EFO:0009592 | social interaction measurement |
| EFO:0007820 | cognitive behavioural therapy |
| EFO:0004327 | electrocardiography |
| EFO:0004530 | triglyceride measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0005091 | monocyte count |
| EFO:0004309 | platelet count |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, affects cotreatment, increases abundance, increases expression | 5 |
| Arsenic | decreases expression, affects methylation, increases abundance, increases expression, affects cotreatment | 4 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Calcitriol | affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Hydrogen Peroxide | affects expression | 2 |
| Tretinoin | increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | decreases expression, increases methylation | 1 |
| diethyl phthalate | decreases expression, increases abundance | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| cupric chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monoethyl phthalate | decreases expression, increases abundance | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases response to substance | 1 |
| Vorinostat | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
Clinical trials (associated diseases)
300 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