ATP10D

gene
On this page

Also known as ATPVDKIAA1487

Summary

ATP10D (ATPase phospholipid transporting 10D (putative), HGNC:13549) is a protein-coding gene on chromosome 4p12, encoding Phospholipid-transporting ATPase VD (Q9P241). Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of the plasma membrane.

Enables glycosylceramide flippase activity. Predicted to be involved in phospholipid translocation. Located in endoplasmic reticulum; nucleoplasm; and plasma membrane. Part of phospholipid-translocating ATPase complex.

Source: NCBI Gene 57205 — RefSeq curated summary.

At a glance

  • GWAS associations: 19
  • Clinical variants (ClinVar): 201 total — 1 pathogenic, 1 likely-pathogenic
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_020453

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13549
Approved symbolATP10D
NameATPase phospholipid transporting 10D (putative)
Location4p12
Locus typegene with protein product
StatusApproved
AliasesATPVD, KIAA1487
Ensembl geneENSG00000145246
Ensembl biotypeprotein_coding
OMIM619815
Entrez57205

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000273859, ENST00000503288, ENST00000504445, ENST00000505277, ENST00000505476, ENST00000507889, ENST00000512393, ENST00000907879, ENST00000907880, ENST00000907881, ENST00000917244, ENST00000917246, ENST00000951777

RefSeq mRNA: 1 — MANE Select: NM_020453 NM_020453

CCDS: CCDS3476

Canonical transcript exons

ENST00000273859 — 23 exons

ExonStartEnd
ENSE000011220334753590247536033
ENSE000011220384753550947535615
ENSE000011220424752555747525642
ENSE000012105014754662447546862
ENSE000012105044753668647536938
ENSE000012105084753643747536564
ENSE000012105124759104247593486
ENSE000012105244752301247523216
ENSE000012105334751547647515670
ENSE000012105424751250447512830
ENSE000012955804755472647554914
ENSE000013190744755766447558273
ENSE000019274984748527547485519
ENSE000035084664758039847580478
ENSE000035278434755892347559029
ENSE000035523194758196047582064
ENSE000035630704757215447572230
ENSE000035783974758701947587206
ENSE000035877644756358147563765
ENSE000036382684756883747569146
ENSE000036609544757677347576973
ENSE000036660934757287247572997
ENSE000036921344756094947561075

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 95.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3892 / max 302.3318, expressed in 1593 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
4755312.53981589
475540.4584245
475520.3910202

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
corpus epididymisUBERON:000435995.33gold quality
secondary oocyteCL:000065594.00gold quality
placentaUBERON:000198793.94gold quality
adrenal tissueUBERON:001830393.68gold quality
upper leg skinUBERON:000426293.35gold quality
oocyteCL:000002393.13gold quality
choroid plexus epitheliumUBERON:000391193.01gold quality
gingival epitheliumUBERON:000194992.77gold quality
calcaneal tendonUBERON:000370192.77gold quality
gingivaUBERON:000182892.38gold quality
skin of hipUBERON:000155492.30gold quality
descending thoracic aortaUBERON:000234592.24gold quality
hair follicleUBERON:000207391.87gold quality
thoracic aortaUBERON:000151591.76gold quality
ascending aortaUBERON:000149691.71gold quality
tibiaUBERON:000097990.83gold quality
tongue squamous epitheliumUBERON:000691990.55gold quality
metanephric glomerulusUBERON:000473690.42gold quality
renal glomerulusUBERON:000007490.40gold quality
penisUBERON:000098990.35gold quality
metanephrosUBERON:000008190.14gold quality
aortaUBERON:000094789.73gold quality
cauda epididymisUBERON:000436089.62gold quality
blood vessel layerUBERON:000479789.54gold quality
caput epididymisUBERON:000435889.53gold quality
urethraUBERON:000005789.30gold quality
right coronary arteryUBERON:000162589.28gold quality
squamous epitheliumUBERON:000691489.14gold quality
oral cavityUBERON:000016789.08gold quality
esophagus squamous epitheliumUBERON:000692089.02gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-MTAB-9221yes1981.04
E-ANND-3yes6.15
E-MTAB-9801yes5.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

95 targeting ATP10D, 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-7110-3P100.0073.182486
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-223-3P99.9970.141140
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-60799.9773.625593
HSA-MIR-314899.9775.066478
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-590-3P99.9674.346478
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-4760-3P99.9370.502385
HSA-MIR-205-3P99.9269.923165
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-367199.9073.043897
HSA-MIR-182-5P99.8774.032589
HSA-LET-7A-2-3P99.8770.531921
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-450399.8571.451869
HSA-MIR-659-3P99.8570.691620
HSA-LET-7G-3P99.8570.431929
HSA-MIR-489-3P99.8066.46839
HSA-MIR-205299.7969.372031

Literature-anchored findings (GeneRIF, showing 1)

  • The rs2351791 SNP in the Atp10d gene affects the susceptibility for cardiac and intracranial vascular stenosis in the elderly Japanese population. (PMID:24125428)

Cross-species orthologs

8 orthologs

OrganismSymbolGene ID
danio_rerioatp10dENSDARG00000078887
mus_musculusAtp10dENSMUSG00000046808
rattus_norvegicusAtp10dENSRNOG00000002312
drosophila_melanogasterCG9981FBGN0030746
drosophila_melanogasterCG4301FBGN0030747
drosophila_melanogasterCG31729FBGN0051729
caenorhabditis_eleganstat-5WBGENE00009498
caenorhabditis_elegansWBGENE00017174

Paralogs (13): ATP9A (ENSG00000054793), ATP11B (ENSG00000058063), ATP11A (ENSG00000068650), ATP8B1 (ENSG00000081923), ATP11C (ENSG00000101974), ATP8B4 (ENSG00000104043), ATP10B (ENSG00000118322), ATP8A1 (ENSG00000124406), ATP8B3 (ENSG00000130270), ATP8A2 (ENSG00000132932), ATP8B2 (ENSG00000143515), ATP9B (ENSG00000166377), ATP10A (ENSG00000206190)

Protein

Protein identifiers

Phospholipid-transporting ATPase VDQ9P241 (reviewed: Q9P241)

Alternative names: ATPase class V type 10D, P4-ATPase flippase complex alpha subunit ATP10D

All UniProt accessions (3): Q9P241, H0Y8M7, Q6PEW3

UniProt curated annotations — full annotation on UniProt →

Function. Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of the plasma membrane.

Subunit / interactions. Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit ATP10A and an accessory beta subunit TMEM30A.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in placenta and, to a lesser extent, in kidney.

Post-translational modifications. Autophosphorylated at the conserved aspartate of the P-type ATPase signature sequence.

Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q9P241-11yes
Q9P241-22

RefSeq proteins (1): NP_065186* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001757P_typ_ATPaseFamily
IPR006539P-type_ATPase_IVFamily
IPR008250ATPase_P-typ_transduc_dom_A_sfHomologous_superfamily
IPR018303ATPase_P-typ_P_sitePTM
IPR023214HAD_sfHomologous_superfamily
IPR023298ATPase_P-typ_TM_dom_sfHomologous_superfamily
IPR023299ATPase_P-typ_cyto_dom_NHomologous_superfamily
IPR032630P_typ_ATPase_cDomain
IPR032631P-type_ATPase_NDomain
IPR036412HAD-like_sfHomologous_superfamily
IPR044492P_typ_ATPase_HD_domDomain

Pfam: PF13246, PF16209, PF16212

Enzyme classification (BRENDA):

  • EC 7.6.2.1 — P-type phospholipid transporter (BRENDA: 22 organisms, 260 substrates, 62 inhibitors, 53 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
ATP0.016–2.21541
P-NITROPHENYL PHOSPHATE1.17–1.463
ACETYL PHOSPHATE1.03–1.312
1-PALMITOYL-2-OLEOYL-SN-GLYCERO-3-PHOSPHO-L-SERI0.1111

Catalyzed reactions (Rhea), 1 shown:

  • a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine(out) + ATP + H2O = a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine(in) + ADP + phosphate + H(+) (RHEA:66036)

UniProt features (67 total): binding site 20, sequence variant 13, topological domain 11, transmembrane region 10, mutagenesis site 5, sequence conflict 3, chain 1, region of interest 1, compositionally biased region 1, active site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9P241-F172.970.24

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 438 (4-aspartylphosphate intermediate)

Ligand- & substrate-binding residues (20): 438; 438; 439; 440; 440; 730; 772; 796; 840; 920; 921; 922

Mutagenesis-validated functional residues (5):

PositionPhenotype
110–111impairs atpase flippase activity.
215impairs atpase flippase activity.
381impairs atpase flippase activity.
382increases atpase flippase activity.
1148–1149impairs atpase flippase activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-936837Ion transport by P-type ATPases
R-HSA-382551Transport of small molecules
R-HSA-983712Ion channel transport

MSigDB gene sets: 240 (showing top): DITTMER_PTHLH_TARGETS_UP, CREBP1_Q2, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_MONOATOMIC_CATION_TRANSPORT, chr4p12, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, HUTTMANN_B_CLL_POOR_SURVIVAL_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, E4F1_Q6, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, DOUGLAS_BMI1_TARGETS_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION

GO Biological Process (6): monoatomic cation transport (GO:0006812), monoatomic ion transmembrane transport (GO:0034220), phospholipid translocation (GO:0045332), lipid transport (GO:0006869), phospholipid transport (GO:0015914), lipid translocation (GO:0034204)

GO Molecular Function (9): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), glycosylceramide flippase activity (GO:0140351), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), phospholipid-translocating ATPase complex (GO:1990531)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Ion channel transport1
Transport of small molecules1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
monoatomic ion transport2
lipid transport2
ATP-dependent activity2
cellular anatomical structure2
transmembrane transport1
phospholipid transport1
lipid translocation1
transport1
lipid localization1
organophosphate ester transport1
regulation of membrane lipid distribution1
metal ion binding1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
ribonucleoside triphosphate phosphatase activity1
intramembrane lipid carrier activity1
sphingolipid intramembrane carrier activity1
flippase activity1
nucleoside phosphate binding1
heterocyclic compound binding1
molecular_function1
binding1
cation binding1
nuclear lumen1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
membrane1
cell periphery1
transporter complex1

Protein interactions and networks

STRING

1026 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ATP10DCDC50AQ9NV96639
ATP10DCDC50BQ3MIR4551
ATP10DTMEM86BQ8N661541
ATP10DNCEH1Q6PIU2524
ATP10DTRIML1Q8N9V2514
ATP10DBEND5Q7L4P6507
ATP10DMS4A5Q9H3V2428
ATP10DGCATO75600427
ATP10DATP10AO60312419
ATP10DADGRF5Q8IZF2418
ATP10DDPEP2Q9H4A9418
ATP10DPROX1Q92786409
ATP10DATP10BO94823405
ATP10DTMEM268Q5VZI3401
ATP10DVSNL1P28677397

IntAct

3 interactions, top by confidence:

ABTypeScore
ATP10DTMEM30Apsi-mi:“MI:0915”(physical association)0.400
ATP10DVMA21psi-mi:“MI:0914”(association)0.350

BioGRID (9): ATP10D (Affinity Capture-RNA), ATP10D (Proximity Label-MS), ATP10D (Affinity Capture-RNA), ATP10D (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), VMA21 (Affinity Capture-MS), ATP10D (Affinity Capture-MS), ATP10D (Proximity Label-MS), ATP10D (Affinity Capture-RNA)

ESM2 similar proteins: A0A131MCZ8, A3KMI0, A6H8T7, A7T1N0, B1AWN4, B7ZC32, D3ZEY4, D3ZSI8, F4INY4, G0S196, O36028, O54827, O60312, O60353, O60423, O62852, O94823, P21441, P22717, P32660, P34586, P49619, P49620, Q01063, Q03603, Q09891, Q12675, Q2NKY8, Q38SD2, Q39017, Q3UHC2, Q5BJS0, Q5CZZ9, Q5R607, Q5ZI74, Q6P158, Q6P5D3, Q6P5E8, Q6UQ17, Q7L2E3

Diamond homologs: A1A4J6, A3FIN4, B1AWN4, C7EXK4, D4AA47, D4ABB8, F1Q4S1, G0S196, G2X7W6, G5EBH1, O36028, O43520, O43861, O54827, O60312, O60423, O94296, O94823, P32660, P39524, P40527, P57792, P70704, P98195, P98196, P98197, P98198, P98199, P98200, P98204, P98205, Q09891, Q10309, Q12675, Q148W0, Q29449, Q37145, Q5BL50, Q6DFW5, Q6UQ17

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic1
Uncertain significance164
Likely benign12
Benign1

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
58027GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3Pathogenic
694454GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3Likely pathogenic

SpliceAI

4759 predictions. Top by Δscore:

VariantEffectΔscore
4:47493857:T:Aacceptor_gain1.0000
4:47523004:A:AGacceptor_gain1.0000
4:47523005:A:Gacceptor_gain1.0000
4:47523008:ACAG:Aacceptor_gain1.0000
4:47523009:C:Gacceptor_gain1.0000
4:47523009:CAGG:Cacceptor_loss1.0000
4:47523010:A:AGacceptor_gain1.0000
4:47523010:AG:Aacceptor_gain1.0000
4:47523011:G:GTacceptor_gain1.0000
4:47523011:GG:Gacceptor_gain1.0000
4:47523011:GGA:Gacceptor_gain1.0000
4:47523011:GGAA:Gacceptor_gain1.0000
4:47523011:GGAAA:Gacceptor_gain1.0000
4:47523214:CAGGT:Cdonor_loss1.0000
4:47523215:AGG:Adonor_loss1.0000
4:47523217:G:GGdonor_gain1.0000
4:47523217:GT:Gdonor_loss1.0000
4:47523218:T:Adonor_loss1.0000
4:47525641:CTG:Cdonor_loss1.0000
4:47525642:TG:Tdonor_loss1.0000
4:47525643:G:GCdonor_loss1.0000
4:47525643:G:GGdonor_gain1.0000
4:47525644:T:Adonor_loss1.0000
4:47525646:AG:Adonor_loss1.0000
4:47525647:G:Cdonor_loss1.0000
4:47536709:T:Gacceptor_gain1.0000
4:47536716:A:AGacceptor_gain1.0000
4:47536716:ATC:Aacceptor_gain1.0000
4:47536717:T:Gacceptor_gain1.0000
4:47536718:C:CAacceptor_gain1.0000

AlphaMissense

9372 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:47536891:T:CF450S0.999
4:47558018:A:CS727R0.999
4:47558020:C:AS727R0.999
4:47558020:C:GS727R0.999
4:47572169:A:CD1060A0.999
4:47512698:T:AV53D0.998
4:47535607:T:AV292D0.998
4:47536855:A:CD438A0.998
4:47569090:A:TK1036I0.998
4:47572168:G:CD1060H0.998
4:47572169:A:TD1060V0.998
4:47523040:T:AW172R0.997
4:47523040:T:CW172R0.997
4:47523139:T:CC205R0.997
4:47525599:T:CC245R0.997
4:47535562:G:CR277T0.997
4:47535597:G:CG289R0.997
4:47535911:C:TT298I0.997
4:47536855:A:TD438V0.997
4:47536885:T:CM448T0.997
4:47536890:T:CF450L0.997
4:47536892:T:AF450L0.997
4:47536892:T:GF450L0.997
4:47536899:T:CC453R0.997
4:47558046:C:AA736D0.997
4:47558049:C:AA737D0.997
4:47558153:T:CF772L0.997
4:47558155:T:AF772L0.997
4:47558155:T:GF772L0.997
4:47558177:T:CS780P0.997

dbSNP variants (sampled 300 via entrez): RS1000035718 (4:47519704 C>A,G,T), RS10000432 (4:47509764 T>A,C,G), RS1000047450 (4:47518592 A>C), RS1000096519 (4:47562534 G>T), RS10001204 (4:47537187 G>A), RS1000135805 (4:47566226 A>G), RS1000187872 (4:47570649 C>G,T), RS1000187902 (4:47483928 T>C), RS1000233402 (4:47494590 C>T), RS1000233645 (4:47555758 CTT>C,CT,CTTT,CTTTT,CTTTTT,CTTTTTTT), RS1000246200 (4:47559757 C>T), RS1000250701 (4:47566629 T>C), RS10002592 (4:47576174 A>C,G,T), RS10002787 (4:47495794 A>C,G,T), RS1000303556 (4:47581405 G>T)

Disease associations

OMIM: gene MIM:619815 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (1): autism (MONDO:0005260)

Orphanet (0):

HPO phenotypes

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

HPOTerm
HP:0000717Autism

GWAS associations

19 associations (top):

StudyTraitp-value
GCST000493_1Sphingolipid levels8.000000e-19
GCST001413_10Sphingolipid levels2.000000e-19
GCST009255_4Fourth ventricle volume6.000000e-06
GCST009698_33Metabolite levels5.000000e-06
GCST009698_81Metabolite levels3.000000e-15
GCST009698_83Metabolite levels6.000000e-10
GCST009698_85Metabolite levels4.000000e-13
GCST009698_86Metabolite levels6.000000e-16
GCST009698_88Metabolite levels2.000000e-16
GCST009698_89Metabolite levels2.000000e-17
GCST009698_92Metabolite levels9.000000e-15
GCST009698_93Metabolite levels5.000000e-15
GCST009698_94Metabolite levels3.000000e-08
GCST009698_96Metabolite levels2.000000e-08
GCST009698_97Metabolite levels4.000000e-08
GCST012020_1Serum metabolite levels8.000000e-40
GCST012020_100Serum metabolite levels3.000000e-24
GCST012020_276Serum metabolite levels1.000000e-25
GCST012020_277Serum metabolite levels1.000000e-15

MeSH disease descriptors (1)

DescriptorNameTree numbers
D001321Autistic DisorderF03.625.164.113.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — P4 P-type ATPases: Phospholipid-transporting ATPases

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, affects cotreatment, increases expression8
Cyclosporinedecreases expression, increases expression3
sodium arsenitedecreases expression, increases abundance, affects cotreatment2
potassium chromate(VI)affects cotreatment, decreases expression2
mercuric bromideincreases expression, affects cotreatment2
(+)-JQ1 compounddecreases expression, increases expression2
Acetaminophenincreases expression2
Arsenicaffects cotreatment, decreases expression, increases abundance2
Benzo(a)pyreneaffects methylation, increases mutagenesis2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Tretinoinincreases expression2
GSK-J4decreases expression1
FR900359increases phosphorylation1
sotorasibaffects cotreatment, increases expression1
triphenyl phosphateaffects expression1
trichostatin Aincreases expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
phenethyl isothiocyanateincreases expression1
chromium hexavalent iondecreases expression1
2-palmitoylglycerolincreases expression1
entinostatincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinincreases expression, affects cotreatment1
trametinibaffects cotreatment, increases expression1
NVP-BKM120increases expression, affects cotreatment1
Vorinostatincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Cadmiumincreases abundance, increases expression1
Cytarabineincreases expression1
Doxorubicindecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00211796PHASE4COMPLETEDDivalproex Sodium ER in Adult Autism
NCT00391261PHASE4COMPLETEDAn Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747PHASE4COMPLETEDMinocycline to Treat Childhood Regressive Autism
NCT00576732PHASE4COMPLETEDA Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753PHASE4COMPLETEDAtomoxetine, Placebo and Parent Management Training in Autism
NCT01028820PHASE4COMPLETEDFMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383PHASE4UNKNOWNTreatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865PHASE4COMPLETEDA Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700PHASE4COMPLETEDMilnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200PHASE4COMPLETEDOmega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977PHASE4UNKNOWNStudy to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952PHASE4COMPLETEDMethylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925PHASE4UNKNOWNAn Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467PHASE4COMPLETEDMultisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565PHASE4COMPLETEDDose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574PHASE4COMPLETEDNeural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629PHASE4COMPLETEDPromoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646PHASE4COMPLETEDEvaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431PHASE4COMPLETEDImproving Driving in Young People With Autism Spectrum Disorders
NCT03757585PHASE4COMPLETEDNatural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353PHASE4COMPLETEDPragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656PHASE4COMPLETEDBiomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245PHASE4UNKNOWNSafety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339PHASE4RECRUITINGAWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052PHASE4TERMINATEDA Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665PHASE4RECRUITINGThe TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697PHASE4COMPLETEDPilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804PHASE4COMPLETEDPilot RCT Using Homeopathic Medicines in ASD
NCT07439042PHASE4NOT_YET_RECRUITINGBuspirone for Anxiety in Autistic Youth
NCT00036231PHASE3TERMINATEDSynthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244PHASE3COMPLETEDSynthetic Human Secretin in Children With Autism
NCT00065884PHASE3UNKNOWNValproate Response in Aggressive Autistic Adolescents
NCT00065962PHASE3COMPLETEDSecretin for the Treatment of Autism
NCT00252603PHASE3COMPLETEDGalantamine Versus Placebo in Childhood Autism
NCT00346736PHASE3COMPLETEDUse of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248PHASE3COMPLETEDRandomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352PHASE3COMPLETEDUse of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329PHASE3COMPLETEDRandomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173PHASE3COMPLETEDEffectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346PHASE3COMPLETEDA Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autism