DPP10

gene
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Also known as DPRP3DPL2DPPY

Summary

DPP10 (dipeptidyl peptidase like 10, HGNC:20823) is a protein-coding gene on chromosome 2q14.1, encoding Inactive dipeptidyl peptidase 10 (Q8N608). Promotes cell surface expression of the potassium channel KCND2.

This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Source: NCBI Gene 57628 — RefSeq curated summary.

At a glance

  • GWAS associations: 23
  • Clinical variants (ClinVar): 148 total — 1 likely-pathogenic
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_020868

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20823
Approved symbolDPP10
Namedipeptidyl peptidase like 10
Location2q14.1
Locus typegene with protein product
StatusApproved
AliasesDPRP3, DPL2, DPPY
Ensembl geneENSG00000175497
Ensembl biotypeprotein_coding
OMIM608209
Entrez57628

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000310323, ENST00000393146, ENST00000393147, ENST00000409163, ENST00000410059, ENST00000419287, ENST00000429914, ENST00000436732, ENST00000461250, ENST00000473362, ENST00000486885, ENST00000488208, ENST00000492708

RefSeq mRNA: 18 — MANE Select: NM_020868 NM_001004360, NM_001178034, NM_001178036, NM_001178037, NM_001321905, NM_001321906, NM_001321907, NM_001321908, NM_001321909, NM_001321910, NM_001321911, NM_001321912, NM_001321913, NM_001321914, NM_001399849, NM_001399850, NM_001399851, NM_020868

CCDS: CCDS33278, CCDS46400, CCDS54388, CCDS54389

Canonical transcript exons

ENST00000410059 — 26 exons

ExonStartEnd
ENSE00001180066115814793115814987
ENSE00001180073115791287115791356
ENSE00001180079115791081115791179
ENSE00001180086115782352115782399
ENSE00001180095115780874115780995
ENSE00001180103115777787115777834
ENSE00001180111115777208115777299
ENSE00001180117115768297115768404
ENSE00001180123115762572115762610
ENSE00001180129115753174115753297
ENSE00001180133115746086115746183
ENSE00001180140115739739115739893
ENSE00001577188115842211115845780
ENSE00002459664115836674115836746
ENSE00002501265115840750115840823
ENSE00003475851115836507115836565
ENSE00003501958115727816115727936
ENSE00003508232114442641114442838
ENSE00003522145115309239115309353
ENSE00003588854115815675115815729
ENSE00003632415115689687115689739
ENSE00003635824115499510115499604
ENSE00003635964115689840115689921
ENSE00003660192115836157115836256
ENSE00003677355115343817115343912
ENSE00003789213115525898115525972

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 97.53.

FANTOM5 (CAGE): breadth broad, TPM avg 4.1859 / max 387.5476, expressed in 366 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter IDTPM avgSamples expressed
222030.9763178
222020.8326279
221870.604868
222010.5678286
221900.470582
221890.340982
221910.104056
221850.059132
221860.057137
221840.053029

Top tissues by expression

244 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
adrenal tissueUBERON:001830397.53gold quality
endothelial cellCL:000011594.10gold quality
Brodmann (1909) area 23UBERON:001355491.11gold quality
prefrontal cortexUBERON:000045190.36gold quality
cortical plateUBERON:000534389.16gold quality
dorsolateral prefrontal cortexUBERON:000983488.48gold quality
Brodmann (1909) area 9UBERON:001354088.01gold quality
Brodmann (1909) area 46UBERON:000648388.00gold quality
frontal cortexUBERON:000187087.48gold quality
neocortexUBERON:000195087.12gold quality
anterior cingulate cortexUBERON:000983586.14gold quality
cerebral cortexUBERON:000095685.80gold quality
primary visual cortexUBERON:000243685.61gold quality
amygdalaUBERON:000187685.40gold quality
right frontal lobeUBERON:000281085.33gold quality
right adrenal gland cortexUBERON:003582784.82gold quality
superior frontal gyrusUBERON:000266184.55gold quality
temporal lobeUBERON:000187183.92gold quality
ventricular zoneUBERON:000305383.85gold quality
right adrenal glandUBERON:000123383.51gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099183.20gold quality
entorhinal cortexUBERON:000272882.95gold quality
left adrenal glandUBERON:000123482.59gold quality
adrenal glandUBERON:000236982.59gold quality
germinal epithelium of ovaryUBERON:000130482.57gold quality
caudate nucleusUBERON:000187382.53gold quality
left adrenal gland cortexUBERON:003582582.26gold quality
occipital lobeUBERON:000202182.08gold quality
adrenal cortexUBERON:000123581.53gold quality
hypothalamusUBERON:000189881.21gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-GEOD-180759yes14440.74
E-HCAD-35yes13317.33
E-HCAD-25yes12171.98
E-ANND-2yes5156.55
E-ANND-3yes6.73
E-HCAD-30no5715.44
E-GEOD-98556no1153.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

235 targeting DPP10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-340-5P100.0072.504437
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-3163100.0077.238605
HSA-MIR-6798-5P100.0065.77699
HSA-MIR-518D-5P100.0067.51979
HSA-MIR-518E-5P100.0067.66954
HSA-MIR-518F-5P100.0067.51979
HSA-MIR-519A-5P100.0067.66954
HSA-MIR-519B-5P100.0067.66954
HSA-MIR-519C-5P100.0067.66954
HSA-MIR-520C-5P100.0067.51979
HSA-MIR-522-5P100.0067.66954
HSA-MIR-523-5P100.0067.66954
HSA-MIR-526A-5P100.0067.51979
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-186-5P99.9970.833707
HSA-MIR-366299.9973.825684
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-569699.9872.364487
HSA-MIR-25-3P99.9874.601817
HSA-MIR-32-5P99.9875.211964
HSA-MIR-363-3P99.9874.721821
HSA-MIR-367-3P99.9874.831819
HSA-MIR-92A-3P99.9875.211960
HSA-MIR-92B-3P99.9875.251955
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955

Literature-anchored findings (GeneRIF, showing 22)

  • cloning, characterization and mapping to chromosome 2 (PMID:12662155)
  • Interaction between transmembranes of DPP10/DPPX and Kv4 channel mediates functional complex formation. We call this protein DPPY, instead of DPP10, because of its revealed role as a Kv4 channel regulator. (PMID:15911355)
  • although similar in structure and sequence to other dipeptidyl peptidases, it lacks vital residues required for dipeptidyl peptidase activity and has instead evolved features that enable it to act as a component of voltage-gated potassium channels (PMID:16290253)
  • Data show that in the Kv4.2+KChIP3+DPP10 channel complex, all DPP10 variants accelerate channel gating kinetics; however, the splice variant DPP10a produces uniquely fast inactivation kinetics that accelerates with increasing depolarization. (PMID:17475505)
  • No consistent association was found between DPP10 and asthma susceptibility. (PMID:17702965)
  • rs10208402 associated with percentage of peripheral blood eosinophils and log(e)-transformed total IgE in a Han Chinese population (PMID:19672052)
  • REVIEW: role in health and disease (PMID:19676137)
  • Our study is the first one to provide additional evidence that supports the roles of DPP10 in influencing asthma or BHR in a Chinese population (PMID:19951440)
  • We were unable to confirm associations of single nucleotide polymorphisms of the positional candidates DPP10 and PHF11 with wheeze. Significant associations with reported and examined eczema were only observed for DPP10. (PMID:20085599)
  • N-linked glycosylation of DPP10 plays an important role in modulating Kv4.3 channel/KCHIP2 complex activities. (PMID:20354865)
  • Crystals of DPP10 obtained by the sitting-drop method were orthorhombic, belonging to space group P2(1)2(1)2(1) with unit-cell parameters a = 80.91, b = 143.73, c = 176.25 A. (PMID:22298003)
  • demonstrated that glycosylation was necessary for both DPP10 trafficking to the cell surface and functional interaction with Kv4 channels (PMID:22387313)
  • Our results suggest that DPP10(789) is involved in the pathology of AD and other neurodegenerative diseases. (PMID:25025038)
  • study suggests a genetic contribution of DPP10 rs17048175 in eosinophilic inflammation induction in the airways and to aspirin-exacerbated respiratory disease susceptibility (PMID:25592153)
  • the interaction of DPP10a, expressed in human atrium, with Kv4.3 channels generates a sustained current component of Ito, which may affect late repolarization phase of atrial action potentials. (PMID:25600224)
  • The stoichiometry of the Kv4.2-DPP10 complex was variable depending on the relative expression level of each subunit, with a preference for 4:2 stoichiometry (PMID:26209633)
  • The DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of ~1%. (PMID:28670437)
  • These results show that a Dpp10 point mutation leads to increased airway responsiveness following allergen challenge. (PMID:29361513)
  • SNP rs11693320 associated with pulmonary function when incorporating an interaction with docosahexaenoic acid (PMID:30199657)
  • increased ventricular DPP10 expression in heart failure might promote arrhythmias by decreasing peak Na(+) current, while increasing window Na(+) current and channel re-openings due to accelerated recovery from inactivation (PMID:30638748)
  • Contribution of dipeptidyl peptidase 10 to airway dysfunction in patients with NSAID-exacerbated respiratory disease. (PMID:34431147)
  • Omega-3 Fatty Acids Interact with DPP10 Region Genotype in Association with Childhood Atopy. (PMID:37242299)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
mus_musculusDpp10ENSMUSG00000036815
rattus_norvegicusDpp10ENSRNOG00000002595
drosophila_melanogasterCG3744FBGN0039240
caenorhabditis_elegansdpf-3WBGENE00001056

Paralogs (6): DPP8 (ENSG00000074603), FAP (ENSG00000078098), DPP6 (ENSG00000130226), DPP9 (ENSG00000142002), APEH (ENSG00000164062), DPP4 (ENSG00000197635)

Protein

Protein identifiers

Inactive dipeptidyl peptidase 10Q8N608 (reviewed: Q8N608)

Alternative names: Dipeptidyl peptidase IV-related protein 3, Dipeptidyl peptidase X, Dipeptidyl peptidase-like protein 2

All UniProt accessions (5): C9J4M8, Q8N608, F8WEB2, J3KPP1, J3KQK8

UniProt curated annotations — full annotation on UniProt →

Function. Promotes cell surface expression of the potassium channel KCND2. Modulates the activity and gating characteristics of the potassium channel KCND2. Has no dipeptidyl aminopeptidase activity.

Subunit / interactions. May form oligomers. Interacts with KCND1. Interacts with KCND2.

Subcellular location. Cell membrane.

Tissue specificity. Found in serum, T-cells and brain (at protein level). Expressed in brain, pancreas, spinal cord and adrenal glands.

Post-translational modifications. N-glycosylation is important for cell surface expression, specially at Asn-257, which is crucial.

Disease relevance. Asthma (ASTHMA) [MIM:600807] The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Similarity. Belongs to the peptidase S9B family. DPPIV subfamily.

Isoforms (4)

UniProt IDNamesCanonical?
Q8N608-11yes
Q8N608-22
Q8N608-33
Q8N608-44

RefSeq proteins (18): NP_001004360, NP_001171505, NP_001171507, NP_001171508, NP_001308834, NP_001308835, NP_001308836, NP_001308837, NP_001308838, NP_001308839, NP_001308840, NP_001308841, NP_001308842, NP_001308843, NP_001386778, NP_001386779, NP_001386780, NP_065919* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001375Peptidase_S9_catDomain
IPR002469Peptidase_S9B_NDomain
IPR029058AB_hydrolase_foldHomologous_superfamily
IPR050278Serine_Prot_S9B/DPPIVFamily

Pfam: PF00326, PF00930

UniProt features (93 total): strand 48, helix 12, turn 10, glycosylation site 6, splice variant 3, sequence variant 3, sequence conflict 3, topological domain 2, modified residue 2, chain 1, mutagenesis site 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
4WJLX-RAY DIFFRACTION3.4

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N608-F190.670.81

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 (2): 138, 143

Glycosylation sites (6): 257, 342, 748, 90, 111, 119

Mutagenesis-validated functional residues (1):

PositionPhenotype
257abolishes sorting to the cell surface and dimerization.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (4): proteolysis (GO:0006508), protein localization to plasma membrane (GO:0072659), regulation of potassium ion transmembrane transport (GO:1901379), positive regulation of protein localization to plasma membrane (GO:1903078)

GO Molecular Function (3): serine-type peptidase activity (GO:0008236), potassium channel regulator activity (GO:0015459), transmembrane transporter binding (GO:0044325)

GO Cellular Component (3): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
protein metabolic process1
protein localization to membrane1
protein localization to cell periphery1
regulation of potassium ion transport1
potassium ion transmembrane transport1
regulation of monoatomic cation transmembrane transport1
protein localization to plasma membrane1
regulation of protein localization to plasma membrane1
positive regulation of protein localization to cell periphery1
positive regulation of protein localization to membrane1
peptidase activity1
serine hydrolase activity1
potassium channel activity1
ion channel regulator activity1
protein binding1
membrane1
cell periphery1
potassium channel complex1
plasma membrane protein complex1
cellular anatomical structure1

Protein interactions and networks

STRING

1470 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DPP10KCND2Q9NZV8969
DPP10KCND3Q9UK17967
DPP10IGLON5A6NGN9878
DPP10LGI1O95970873
DPP10PHF11Q9UIL8818
DPP10CNTNAP2Q9UHC6817
DPP10KCNC1P48547810
DPP10PNMA2Q9UL42788
DPP10ADAM33Q9BZ11787
DPP10GRM5P41594755
DPP10WTAPQ15007739
DPP10DPYSL5Q9BPU6720
DPP10AMPHP49418720
DPP10KCNIP3Q9Y2W7718
DPP10ZIC4Q8N9L1714

IntAct

4 interactions, top by confidence:

ABTypeScore
CERS2ATP5F1Bpsi-mi:“MI:0914”(association)0.640
Mpsi-mi:“MI:0914”(association)0.350
DPP10SMAD2psi-mi:“MI:0915”(physical association)0.000

BioGRID (7): DPP10 (Affinity Capture-MS), DPP10 (Affinity Capture-MS), DPP10 (Affinity Capture-Western), DPP10 (Affinity Capture-Western), KCND2 (Affinity Capture-Western), DPP10 (Reconstituted Complex), DPP10 (Affinity Capture-Luminescence)

ESM2 similar proteins: A0A1Q3EPF5, A0A4S8L6U5, A0S5V9, A1CHP1, A2RSQ1, A5D7B7, A7UKV8, B1A4F7, B2D0J4, B6V868, B8N970, C5FJE3, D4APE2, D4CZ59, E2JFG1, O14073, O62653, P0DRB8, P14740, P18962, P22411, P27487, P28843, P33894, P34422, P42658, P42659, P46101, P81425, P86100, P97321, P9WEN5, Q10916, Q12884, Q18253, Q2M2H8, Q2UH35, Q5IS50, Q5J6J3, Q6NXK7

Diamond homologs: A0A2R8QP51, A0S5V9, A1CHP1, A1CJQ1, A1CX29, A1D7R6, A2QEK7, A4QYQ5, A5D7B7, A6RBI0, A6SL49, A7EQZ1, A7UKV8, B0XYK8, B0Y6C5, B2A951, B2WC36, B6HFS8, B6QVW4, B6V868, B8MTH6, B8N076, B8N970, C0NUQ8, C0S7H1, C1FZL3, C1GT79, C4JHY5, C5FJE3, C5FYZ3, C5GVF3, C5JC30, C5P334, C6HRC7, C7YYG9, C9SJ15, D1Z9B4, D4APE2, D4AQT0, D4CZ59

SIGNOR signaling

1 interactions.

AEffectBMechanism
DPP10“up-regulates activity”KCND2relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

148 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance115
Likely benign7
Benign6

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
545242NC_000002.12:g.(?115503140)(115527426_?)delLikely pathogenic

SpliceAI

1027 predictions. Top by Δscore:

VariantEffectΔscore
2:115209805:G:GTdonor_gain1.0000
2:115162192:G:GTdonor_gain0.9900
2:115162192:G:Tdonor_gain0.9900
2:115162233:G:GTdonor_gain0.9900
2:115209805:G:Tdonor_gain0.9900
2:115209817:A:AGdonor_gain0.9900
2:115209821:GTCT:Gdonor_gain0.9900
2:115209822:TCTT:Tdonor_gain0.9900
2:115209824:T:Gdonor_gain0.9900
2:115209824:T:TGdonor_gain0.9900
2:115162258:G:Tdonor_gain0.9800
2:115162270:GAG:Gdonor_gain0.9800
2:115165339:TCTG:Tdonor_gain0.9800
2:115209806:A:Tdonor_gain0.9800
2:115162268:GAGAG:Gdonor_gain0.9700
2:115162271:AGG:Adonor_loss0.9700
2:115162272:GGTAA:Gdonor_loss0.9700
2:115162273:G:Adonor_loss0.9700
2:115209817:A:Gdonor_gain0.9700
2:115162258:G:GTdonor_gain0.9500
2:115181514:ATG:Aacceptor_gain0.9400
2:115274613:G:Tdonor_gain0.9400
2:115189690:A:ACacceptor_gain0.9300
2:115248794:GAT:Gacceptor_gain0.9300
2:115283220:T:TGdonor_gain0.9300
2:115233594:G:GTdonor_gain0.9200
2:115162244:TG:Tdonor_loss0.9100
2:115162476:C:Tdonor_gain0.9100
2:115184453:T:Aacceptor_gain0.9100
2:115162270:G:GTdonor_gain0.9000

AlphaMissense

5247 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:115309314:T:CC46R0.999
2:115525950:T:CL140P0.999
2:115689898:T:AW185R0.999
2:115689898:T:CW185R0.999
2:115727912:G:TG225W0.999
2:115753199:T:AW326R0.999
2:115753199:T:CW326R0.999
2:115309291:C:AA38D0.998
2:115689708:G:CA155P0.998
2:115689854:T:CL170S0.998
2:115689900:G:CW185C0.998
2:115689900:G:TW185C0.998
2:115689920:T:CL192P0.998
2:115727913:G:AG225E0.998
2:115739793:T:CL251P0.998
2:115753201:G:CW326C0.998
2:115753201:G:TW326C0.998
2:115753268:T:CC349R0.998
2:115309294:T:CL39P0.997
2:115309303:T:AI42N0.997
2:115689709:C:AA155D0.997
2:115689893:C:AA183E0.997
2:115727840:T:GY201D0.997
2:115727912:G:AG225R0.997
2:115727912:G:CG225R0.997
2:115753229:T:AW336R0.997
2:115753229:T:CW336R0.997
2:115768375:T:CF398L0.997
2:115768377:T:AF398L0.997
2:115768377:T:GF398L0.997

dbSNP variants (sampled 300 via entrez): RS1000003080 (2:115048166 A>G), RS1000004357 (2:115693735 A>G), RS1000004434 (2:115179797 C>G,T), RS1000006869 (2:114542158 C>G), RS1000006930 (2:114767794 T>C), RS1000007188 (2:115615292 A>C,G), RS1000011287 (2:114830257 T>C), RS1000011528 (2:114513307 G>C), RS1000012524 (2:114474828 C>G), RS1000012525 (2:114580230 G>A,C), RS1000013787 (2:114553365 G>A), RS1000014824 (2:114909023 T>C), RS1000015590 (2:114889246 C>A), RS1000016623 (2:115829660 T>C), RS1000017713 (2:114631026 T>C,G)

Disease associations

OMIM: gene MIM:608209 | disease phenotypes: MIM:181500

GenCC curated gene-disease

Mondo (1): schizophrenia (MONDO:0005090)

Orphanet (1): NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0100753Schizophrenia

GWAS associations

23 associations (top):

StudyTraitp-value
GCST001762_551Obesity-related traits3.000000e-06
GCST002187_2Systolic blood pressure in sickle cell anemia2.000000e-06
GCST002820_2Survival in microsatellite instability low/stable colorectal cancer2.000000e-06
GCST002822_8Survival in colon cancer6.000000e-06
GCST002826_8Urate levels (BMI interaction)6.000000e-06
GCST002936_7Cadmium levels6.000000e-06
GCST002972_1Suicide attempts in major depressive disorder4.000000e-06
GCST003123_6Severe influenza A (H1N1) infection2.000000e-19
GCST003518_68Daytime sleep phenotypes7.000000e-06
GCST003803_2Response to antidepressants in depression7.000000e-07
GCST006431_11Plasma parathyroid hormone levels2.000000e-09
GCST006431_2Plasma parathyroid hormone levels2.000000e-07
GCST007676_163-month functional outcome in ischaemic stroke (modified Rankin score)8.000000e-06
GCST008099_1Pulmonary function (FVC) x omega-3 PUFA (docosahexaenoic acid) interaction (2df)9.000000e-09
GCST008156_60Hip circumference adjusted for BMI4.000000e-06
GCST008162_80Hip circumference8.000000e-06
GCST008462_1Plasma factor V levels in venous thrombosis (conditioned on rs6027)1.000000e-06
GCST008506_3Stress sensitivity (neuroticism score x major depressive disorder status interaction)2.000000e-06
GCST008506_5Stress sensitivity (neuroticism score x major depressive disorder status interaction)4.000000e-06
GCST008829_4Neuritic plaque6.000000e-07
GCST008947_1High chromosomal aberration frequency (chromatid type) in genotoxic compound exposure1.000000e-06
GCST009028_24Adverse response to drug4.000000e-07
GCST90011898_67Alanine aminotransferase levels1.000000e-13

EFO canonical traits (17, from GWAS)

EFO IDTrait name
EFO:0004344birth weight
EFO:0006335systolic blood pressure
EFO:0000638overall survival
EFO:0007054microsatellite instability measurement
EFO:0004340body mass index
EFO:0004531urate measurement
EFO:0004321attempted suicide
EFO:1001488influenza A (H1N1)
EFO:0007828daytime rest measurement
EFO:0009603stroke outcome severity measurement
EFO:0004312vital capacity
EFO:0007761docosahexaenoic acid measurement
EFO:0008039BMI-adjusted hip circumference
EFO:0007660neuroticism measurement
EFO:0006798neuritic plaque measurement
EFO:0009862chromatid-type aberration frequency
EFO:0009658adverse effect

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression, decreases methylation8
Particulate Matterincreases abundance, decreases reaction, increases expression, affects methylation2
bisphenol Fdecreases methylation1
methylmercuric chloridedecreases expression1
bisphenol Adecreases methylation1
CGP 52608affects binding, increases reaction1
deguelinincreases expression1
2-palmitoylglycerolincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
quinocetoneincreases expression1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amidedecreases reaction, increases expression1
dorsomorphinincreases expression, affects cotreatment1
picoxystrobinincreases expression1
Resveratroldecreases expression, affects cotreatment1
Air Pollutantsaffects methylation, increases abundance1
Benzo(a)pyreneaffects methylation, decreases methylation, increases methylation1
Cadmiumdecreases expression, increases abundance1
Copperdecreases expression, affects cotreatment1
Nitrogen Dioxideincreases abundance, affects methylation1
Tobacco Smoke Pollutionincreases methylation1
Cadmium Chlorideincreases abundance, decreases expression1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00000374PHASE4COMPLETEDTreatment for First-Episode Schizophrenia
NCT00001656PHASE4COMPLETEDComparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774PHASE4COMPLETEDTo Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001PHASE4COMPLETEDCATIE- Schizophrenia Trial
NCT00018668PHASE4COMPLETEDAntipsychotic Response in Schizophrenia
NCT00034801PHASE4COMPLETEDOlanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905PHASE4COMPLETEDA Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088PHASE4COMPLETEDOlanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187PHASE4COMPLETEDThe 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
NCT00044655PHASE4COMPLETEDSwitching Medication to Treat Schizophrenia
NCT00048828PHASE4COMPLETEDTreating Drug-Resistant Childhood Schizophrenia
NCT00053703PHASE4COMPLETEDTreatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498PHASE4COMPLETEDRisperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802PHASE4COMPLETEDEfficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327PHASE4COMPLETEDStudy of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049PHASE4COMPLETEDStudy of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012PHASE4COMPLETEDComparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776PHASE4COMPLETEDEfficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571PHASE4COMPLETEDOlanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368PHASE4COMPLETEDThe Effects of Risperidone and Olanzapine on Thinking
NCT00114595PHASE4COMPLETEDEthyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923PHASE4COMPLETEDRisperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020PHASE4COMPLETEDClinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166PHASE4COMPLETEDTreatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847PHASE4COMPLETEDNaltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564PHASE4COMPLETEDEnergy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715PHASE4COMPLETEDEfficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223PHASE4COMPLETEDEffectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081PHASE4COMPLETEDOne Year Drug Treatment in First-Episode Schizophrenia
NCT00159120PHASE4COMPLETEDMaintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133PHASE4COMPLETEDProdrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757PHASE4TERMINATED12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817PHASE4COMPLETEDEffect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026PHASE4TERMINATEDAlcoholism and Schizophrenia: Effects of Clozapine
NCT00169039PHASE4TERMINATEDClozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065PHASE4COMPLETEDEffectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091PHASE4TERMINATEDClozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423PHASE4COMPLETEDEfficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436PHASE4COMPLETEDAtomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008PHASE4COMPLETEDAripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): colonic neoplasm