TPTE

gene
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Also known as PTEN2CT44TPTE1

Summary

TPTE (transmembrane phosphatase with tensin homology, HGNC:12023) is a protein-coding gene on chromosome 21p11.2, encoding Putative tyrosine-protein phosphatase TPTE (P56180). Could be involved in signal transduction. It is a selective cancer dependency (DepMap: 11.1% of cell lines).

This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 7179 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 45 total
  • Cancer dependency (DepMap): dependent in 11.1% of screened cell lines
  • MANE Select transcript: NM_199261

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:12023
Approved symbolTPTE
Nametransmembrane phosphatase with tensin homology
Location21p11.2
Locus typegene with protein product
StatusApproved
AliasesPTEN2, CT44, TPTE1
Ensembl geneENSG00000274391
Ensembl biotypeprotein_coding
OMIM604336
Entrez7179

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000427445, ENST00000612746, ENST00000612957, ENST00000618007, ENST00000622113

RefSeq mRNA: 5 — MANE Select: NM_199261 NM_001290224, NM_001425016, NM_199259, NM_199260, NM_199261

CCDS: CCDS74771, CCDS74772, CCDS74773, CCDS77617

Canonical transcript exons

ENST00000618007 — 24 exons

ExonStartEnd
ENSE000016107541056943710569536
ENSE000016571551056968310569746
ENSE000016598691057833710578418
ENSE000017037551055949410559544
ENSE000017746601059046210590523
ENSE000022069771052458010524688
ENSE000022088311056767010567789
ENSE000022215831059229310592373
ENSE000022298941057048510570549
ENSE000022347921056103010561191
ENSE000022408711057851710578605
ENSE000022950751054111210541165
ENSE000023037711060205810602150
ENSE000023118101059598210596087
ENSE000037255681060541710605716
ENSE000037355341053868110538734
ENSE000037372871052735510527412
ENSE000037389031057746010577520
ENSE000037416951059801510598094
ENSE000037450061060356210603632
ENSE000037510231055265710552716
ENSE000037515711054332910543382
ENSE000037545791054239510542448
ENSE000039097801052158310521694

Expression profiles

Bgee: expression breadth broad, 26 present calls, max score 96.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.2707 / max 346.4333, expressed in 992 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
2092642.6418925
1884800.5605107
1884790.068413

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right testisUBERON:000453496.29gold quality
left testisUBERON:000453395.14gold quality
testisUBERON:000047394.90gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047391.97gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099188.10gold quality
placentaUBERON:000198752.96gold quality
colonic epitheliumUBERON:000039746.62gold quality
sural nerveUBERON:001548844.35gold quality
cortex of kidneyUBERON:000122541.51silver quality
calcaneal tendonUBERON:000370140.88gold quality
bone marrow cellCL:000209240.87gold quality
monocyteCL:000057640.80silver quality
cortical plateUBERON:000534340.30silver quality
ventricular zoneUBERON:000305340.14gold quality
leukocyteCL:000073840.10silver quality
endometriumUBERON:000129540.07gold quality
right lobe of thyroid glandUBERON:000111939.68silver quality
smooth muscle tissueUBERON:000113538.18gold quality
skeletal muscle tissueUBERON:000113438.05gold quality
left lobe of thyroid glandUBERON:000112037.97gold quality
muscle tissueUBERON:000238537.85gold quality
bone marrowUBERON:000237137.76gold quality
thyroid glandUBERON:000204637.65silver quality
metanephros cortexUBERON:001053337.45silver quality
ganglionic eminenceUBERON:000402337.35gold quality
corpus callosumUBERON:000233636.25gold quality
primary visual cortexUBERON:000243635.94gold quality
adrenal tissueUBERON:001830335.78gold quality
mucosa of transverse colonUBERON:000499135.70gold quality
body of stomachUBERON:000116135.41gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes3.11

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA3

miRNA regulators (miRDB)

49 targeting TPTE, 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-6867-5P100.0082.213464
HSA-MIR-4425100.0067.591049
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-480399.9871.993117
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-381-3P99.9371.872854
HSA-MIR-30099.9271.762856
HSA-MIR-380-3P99.8970.181978
HSA-MIR-427199.8868.322244
HSA-MIR-576-5P99.8470.462582
HSA-MIR-469899.8471.414303
HSA-MIR-449599.8272.083080
HSA-MIR-6885-3P99.7570.363187
HSA-MIR-379-3P99.6969.601524
HSA-MIR-411-3P99.6969.631524
HSA-MIR-651-5P99.6468.491104
HSA-MIR-29899.6367.561916
HSA-MIR-488-3P99.6168.791731
HSA-MIR-1207-5P99.4969.112983
HSA-MIR-132499.4666.571302
HSA-MIR-148A-5P99.3068.271141

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

  • Gene dosage change of TPTE is associated with Robertsonian Down syndrome (PMID:18074101)
  • TPTE sero-reactivity has moderate sensitivity. (PMID:26350112)
  • Overexpression of Transmembrane Phosphatase with Tensin homology (TPTE) in prostate cancer is clinically significant, suggesting its potential as a valuable biomarker. (PMID:38546751)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriotpteENSDARG00000056985
mus_musculusTpteENSMUSG00000031481
rattus_norvegicusTpte2ENSRNOG00000024837

Paralogs (6): TNS1 (ENSG00000079308), HVCN1 (ENSG00000122986), TPTE2 (ENSG00000132958), TNS3 (ENSG00000136205), TMEM266 (ENSG00000169758), PTEN (ENSG00000171862)

Protein

Protein identifiers

Putative tyrosine-protein phosphatase TPTEP56180 (reviewed: P56180)

Alternative names: Cancer/testis antigen 44, Transmembrane phosphatase with tensin homology, Tumor antigen BJ-HCC-5

All UniProt accessions (2): P56180, A0A087X1C4

UniProt curated annotations — full annotation on UniProt →

Function. Could be involved in signal transduction.

Subcellular location. Membrane.

Tissue specificity. Exclusively expressed in testis.

Isoforms (4)

UniProt IDNamesCanonical?
P56180-11, Alphayes
P56180-22, Beta
P56180-33, Gamma
P56180-44, Delta

RefSeq proteins (5): NP_001277153, NP_001411945, NP_954868, NP_954869, NP_954870* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000387Tyr_Pase_domDomain
IPR005821Ion_trans_domDomain
IPR014020Tensin_C2-domDomain
IPR016130Tyr_Pase_ASActive_site
IPR027359Volt_channel_dom_sfHomologous_superfamily
IPR029021Prot-tyrosine_phosphatase-likeHomologous_superfamily
IPR029023Tensin_phosphataseDomain
IPR035892C2_domain_sfHomologous_superfamily
IPR045102PTP_VSP_TPTEDomain
IPR051281Dual-spec_lipid-protein_phosphFamily

Pfam: PF00520, PF10409, PF22785

Catalyzed reactions (Rhea), 1 shown:

  • O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate (RHEA:10684)

UniProt features (18 total): sequence variant 6, transmembrane region 3, splice variant 3, domain 2, chain 1, region of interest 1, compositionally biased region 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P56180-F182.160.50

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): 338

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-1660514Synthesis of PIPs at the Golgi membrane

MSigDB gene sets: 82 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MODULE_205, BLALOCK_ALZHEIMERS_DISEASE_UP, GNF2_CCNA1, GOBP_DEPHOSPHORYLATION, GOBP_PROTEIN_DEPHOSPHORYLATION, WEBER_METHYLATED_HCP_IN_SPERM_UP, GOBP_TRANSMEMBRANE_TRANSPORT, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN, chr21p11, CHEN_HOXA5_TARGETS_9HR_UP, KIM_WT1_TARGETS_DN, GOMF_PHOSPHATIDYLINOSITOL_PHOSPHATE_PHOSPHATASE_ACTIVITY, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS

GO Biological Process (7): protein dephosphorylation (GO:0006470), signal transduction (GO:0007165), phosphate-containing compound metabolic process (GO:0006796), monoatomic ion transport (GO:0006811), dephosphorylation (GO:0016311), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)

GO Molecular Function (7): protein tyrosine phosphatase activity (GO:0004725), monoatomic ion channel activity (GO:0005216), phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787), phosphatase activity (GO:0016791)

GO Cellular Component (2): cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
PI Metabolism1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular process2
transport2
cellular anatomical structure2
dephosphorylation1
protein modification process1
cell communication1
signaling1
regulation of cellular process1
cellular response to stimulus1
metabolic process1
phosphate-containing compound metabolic process1
monoatomic ion transport1
transmembrane transport1
phosphoprotein phosphatase activity1
monoatomic ion transmembrane transporter activity1
channel activity1
phosphatidylinositol trisphosphate phosphatase activity1
phosphatase activity1
catalytic activity, acting on a protein1
binding1
catalytic activity1
phosphoric ester hydrolase activity1
cytoplasm1

Protein interactions and networks

STRING

1818 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TPTENEK3P51956785
TPTEMAGEA3P43357745
TPTECTAG1AP78358732
TPTETYRP14679675
TPTEMTMR2Q13614560
TPTEPTENP60484463
TPTEHAUS6Q7Z4H7437
TPTETCHPQ9BT92423
TPTETMEM266Q2M3C6416
TPTENUDT21O43809406
TPTENDUFS6O75380405
TPTEMTMR7Q9Y216401
TPTELUZP4Q9P127398
TPTESDHAP31040379
TPTENBPF4Q96M43378

IntAct

14 interactions, top by confidence:

ABTypeScore
TPTETLN1psi-mi:“MI:0407”(direct interaction)0.440
PIP5K1CTPTEpsi-mi:“MI:0915”(physical association)0.400
TPTEADRB2psi-mi:“MI:0915”(physical association)0.370
TPTEERBB3psi-mi:“MI:0915”(physical association)0.370
PDGFRBTPTEpsi-mi:“MI:0915”(physical association)0.370
TPTEROR2psi-mi:“MI:0915”(physical association)0.370
TPTENTRK1psi-mi:“MI:0915”(physical association)0.370
TPTEPTK7psi-mi:“MI:0915”(physical association)0.370
TPTEEPHA3psi-mi:“MI:0915”(physical association)0.370
TPTEEPHA2psi-mi:“MI:0915”(physical association)0.370
TPTEEPHA1psi-mi:“MI:0915”(physical association)0.370
TPTETUBB3psi-mi:“MI:0915”(physical association)0.370
Ppsi-mi:“MI:0914”(association)0.350

BioGRID (170): ATP2A2 (Affinity Capture-MS), EMD (Affinity Capture-MS), ENAH (Affinity Capture-MS), FANCD2 (Affinity Capture-MS), GCN1L1 (Affinity Capture-MS), SPAG9 (Affinity Capture-MS), TOR1AIP2 (Proximity Label-MS), SCYL3 (Proximity Label-MS), UBXN4 (Proximity Label-MS), TRMT10C (Proximity Label-MS), EMC3 (Proximity Label-MS), DDX54 (Proximity Label-MS), CLCC1 (Proximity Label-MS), VEZT (Proximity Label-MS), STAM2 (Proximity Label-MS)

ESM2 similar proteins: A1A4F0, A2QM49, A2ZIM4, E1BPQ3, E2R4X3, F4IXT6, N4WW42, O49567, O57428, O81514, P0C941, P18380, P38279, P50581, P52885, P56180, P68253, P86214, P86252, P86265, Q01741, Q0C8A7, Q0DWQ7, Q2QWX8, Q2RBJ4, Q2XXR3, Q3SZ89, Q4R6N0, Q5GH77, Q5HYJ1, Q5ZHX6, Q66H96, Q6UXP3, Q6YXZ1, Q7X7E9, Q7XT08, Q866X0, Q86UG4, Q86V35, Q8BFZ1

Diamond homologs: E9Q0S6, G5EE01, O08586, O54857, O94526, P56180, P60483, P60484, Q04205, Q4R6N0, Q54JL7, Q5SSZ5, Q63HR2, Q68CZ2, Q8CGB6, Q8H106, Q8T9S7, Q9FLZ5, Q9GLM4, Q9HBL0, Q9LT75, Q9P7H1, Q9PUT6, Q5B323, Q6XPS3, Q86IL4, Q99KY4, A0AUV4, A8WYE4, B0WAU8, D2I3C6, D3ZBE5, F1LP90, F1MH24, F1SPM8, G5ECQ3, O13773, O14976, O34507, O43066

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 13 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
cell surface receptor protein tyrosine kinase signaling pathway686.9×7e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance4
Likely benign1
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

3630 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
21:10605490:G:CA532P0.960
21:10603592:T:CF494L0.947
21:10603594:T:AF494L0.947
21:10603594:T:GF494L0.947
21:10605494:T:AV533E0.944
21:10592296:A:CS365R0.942
21:10592298:C:AS365R0.942
21:10592298:C:GS365R0.942
21:10605487:T:CF531L0.937
21:10605489:T:AF531L0.937
21:10605489:T:GF531L0.937
21:10569719:T:CF235L0.935
21:10569721:T:AF235L0.935
21:10569721:T:GF235L0.935
21:10595987:A:CR392S0.935
21:10595987:A:TR392S0.935
21:10605440:T:CL515S0.929
21:10602134:T:AV478E0.922
21:10605500:T:AI535K0.921
21:10602139:T:CF480L0.918
21:10602141:T:AF480L0.918
21:10602141:T:GF480L0.918
21:10592308:T:CF369L0.916
21:10592310:T:AF369L0.916
21:10592310:T:GF369L0.916
21:10605425:T:CL510P0.909
21:10605505:T:CF537L0.905
21:10605507:T:AF537L0.905
21:10605507:T:GF537L0.905
21:10578551:T:AW325R0.903

dbSNP variants (sampled 300 via entrez): RS1000019497 (21:10554389 A>G), RS1000022062 (21:10565025 G>A), RS1000074636 (21:10564709 T>A,C,G), RS1000231003 (21:10530947 G>A), RS1000297248 (21:10539835 C>A), RS1000322138 (21:10555978 A>G), RS1000425672 (21:10547635 G>T), RS1000566412 (21:10532862 G>A,C), RS1000662754 (21:10541787 G>A), RS1000732288 (21:10539352 T>A,C,G), RS1000761672 (21:10549655 A>G,T), RS1000960684 (21:10604048 C>G), RS1000991815 (21:10604540 C>A,T), RS1000994227 (21:10582554 G>A), RS1001033445 (21:10541989 G>T)

Disease associations

OMIM: gene MIM:604336 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST002112_7Celiac disease2.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

ChemicalActions (top 5)PubMed papers
Resveratrolaffects cotreatment, decreases expression1
Benzo(a)pyreneaffects methylation, increases methylation1
Cadmiumdecreases expression1
Coumestrolaffects cotreatment, decreases expression1
Folic Acidincreases expression1
Valproic Acidincreases methylation1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00391261PHASE4COMPLETEDAn Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820PHASE4COMPLETEDFMRI Brain Activation of Aripiprazole Treatment in 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
NCT02096952PHASE4COMPLETEDMethylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467PHASE4COMPLETEDMultisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
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
NCT01302964PHASE3COMPLETEDMirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523PHASE3TERMINATEDOpen Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798PHASE3COMPLETEDTreatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074PHASE3COMPLETEDBehavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749PHASE3COMPLETEDA Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922PHASE3COMPLETEDTreatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917PHASE3TERMINATEDA Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875PHASE3TERMINATEDMemantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156PHASE3COMPLETEDModulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153PHASE3TERMINATEDEfficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166PHASE3TERMINATEDEfficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502PHASE3WITHDRAWNEfficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756PHASE3COMPLETEDOpen-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398PHASE3COMPLETEDEffect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383PHASE3TERMINATEDAmitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493PHASE3COMPLETEDThe Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707PHASE3UNKNOWNEvaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616PHASE3COMPLETEDStudy of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210PHASE3RECRUITINGSafety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): celiac disease