UNC79
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Summary
UNC79 (unc-79 subunit of NALCN channel complex, HGNC:19966) is a protein-coding gene on chromosome 14q32.12, encoding Protein unc-79 homolog (Q9P2D8). Auxiliary subunit of the NALCN sodium channel complex, a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability.
The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel.
Source: NCBI Gene 57578 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 10
- Clinical variants (ClinVar): 416 total — 8 pathogenic, 6 likely-pathogenic
- MANE Select transcript:
NM_001395159
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19966 |
| Approved symbol | UNC79 |
| Name | unc-79 subunit of NALCN channel complex |
| Location | 14q32.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000133958 |
| Ensembl biotype | protein_coding |
| OMIM | 616884 |
| Entrez | 57578 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
ENST00000256339, ENST00000393151, ENST00000553484, ENST00000554549, ENST00000555664, ENST00000621021, ENST00000695012, ENST00000695013
RefSeq mRNA: 3 — MANE Select: NM_001395159
NM_001346218, NM_001395159, NM_020818
CCDS: CCDS91920, CCDS91921, CCDS9911
Canonical transcript exons
ENST00000629588 — 0 exons
Expression profiles
Bgee: expression breadth ubiquitous, 106 present calls, max score 85.99.
FANTOM5 (CAGE): breadth broad, TPM avg 2.7404 / max 161.9060, expressed in 363 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 141178 | 0.7744 | 148 |
| 141181 | 0.7342 | 128 |
| 141174 | 0.3370 | 142 |
| 141177 | 0.3104 | 99 |
| 141173 | 0.2499 | 123 |
| 141179 | 0.2295 | 84 |
| 141180 | 0.1050 | 56 |
Top tissues by expression
120 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 85.99 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.68 | gold quality |
| cerebellum | UBERON:0002037 | 85.66 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 83.45 | gold quality |
| pituitary gland | UBERON:0000007 | 83.21 | gold quality |
| cortical plate | UBERON:0005343 | 82.78 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.29 | gold quality |
| primary visual cortex | UBERON:0002436 | 81.06 | gold quality |
| adenohypophysis | UBERON:0002196 | 81.00 | gold quality |
| frontal cortex | UBERON:0001870 | 80.54 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.08 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 79.94 | gold quality |
| prefrontal cortex | UBERON:0000451 | 79.87 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 79.19 | gold quality |
| cerebral cortex | UBERON:0000956 | 78.67 | gold quality |
| brain | UBERON:0000955 | 78.63 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.05 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 77.33 | gold quality |
| corpus callosum | UBERON:0002336 | 77.14 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.99 | gold quality |
| nucleus accumbens | UBERON:0001882 | 76.71 | gold quality |
| hypothalamus | UBERON:0001898 | 76.33 | gold quality |
| caudate nucleus | UBERON:0001873 | 74.58 | gold quality |
| Ammon’s horn | UBERON:0001954 | 74.28 | gold quality |
| putamen | UBERON:0001874 | 74.25 | gold quality |
| temporal lobe | UBERON:0001871 | 74.15 | gold quality |
| amygdala | UBERON:0001876 | 74.04 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 73.74 | gold quality |
| substantia nigra | UBERON:0002038 | 71.38 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75140 | yes | 159.28 |
| E-ANND-3 | no | 1.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting UNC79, 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-6798-5P | 100.00 | 65.77 | 699 |
| 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
Literature-anchored findings (GeneRIF, showing 4)
- In the Australian GWAS, one SNP achieved genomewide significance for comorbid AD/ND, rs12882384 in KIAA1409 on chromosome 14 (p = 4.86 x 10(-8))). (PMID:20158304)
- UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex (PMID:26708753)
- UNC79 variant is associated with neurodevelopmental diseases. (PMID:30167850)
- A new neurodevelopmental disorder linked to heterozygous variants in UNC79. (PMID:37183800)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Unc79 | ENSMUSG00000021198 |
| rattus_norvegicus | Unc79 | ENSRNOG00000008728 |
| drosophila_melanogaster | unc79 | FBGN0038693 |
| caenorhabditis_elegans | WBGENE00006811 |
Protein
Protein identifiers
Protein unc-79 homolog — Q9P2D8 (reviewed: Q9P2D8)
All UniProt accessions (4): A0A8Q3SHI5, A0A8Q3SHN5, G3V2U4, Q9P2D8
UniProt curated annotations — full annotation on UniProt →
Function. Auxiliary subunit of the NALCN sodium channel complex, a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability. Activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current.
Subunit / interactions. NALCN complex consists of NALCN and auxiliary subunits, UNC79, UNC80 and NACL1. These auxiliary subunits are essential for the NALCN channel function. UNC80 bridges NALCN to UNC79.
Subcellular location. Cell membrane.
Similarity. Belongs to the unc-79 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P2D8-1 | 1 | yes |
| Q9P2D8-2 | 2 | |
| Q9P2D8-3 | 3 |
RefSeq proteins (3): NP_001333147, NP_001382088, NP_065869 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR024855 | UNC79 | Family |
Pfam: PF14776
UniProt features (121 total): helix 87, region of interest 6, strand 6, compositionally biased region 5, sequence variant 4, turn 4, transmembrane region 2, modified residue 2, splice variant 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7SX3 | ELECTRON MICROSCOPY | 3.1 |
| 7SX4 | ELECTRON MICROSCOPY | 3.5 |
| 7WJI | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P2D8-F1 | 63.95 | 0.04 |
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): 754, 758
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2672351 | Stimuli-sensing channels |
MSigDB gene sets: 106 (showing top):
MODULE_255, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, TTTGTAG_MIR520D, MODULE_317, GOBP_MONOATOMIC_CATION_TRANSPORT, MODULE_171, TGIF_01, GOBP_REGULATION_OF_ACTION_POTENTIAL, GOBP_REGULATION_OF_NERVOUS_SYSTEM_PROCESS, GOBP_REGULATION_OF_SYSTEM_PROCESS, AACTTT_UNKNOWN, CTTTGTA_MIR524, GOBP_REGULATION_OF_TRANSMISSION_OF_NERVE_IMPULSE, GOBP_NEURONAL_ACTION_POTENTIAL, chr14q32
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Ion channel transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1326 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UNC79 | UNC80 | Q8N2C7 | 994 |
| UNC79 | NALCN | Q8IZF0 | 962 |
| UNC79 | NALF1 | B1AL88 | 821 |
| UNC79 | C2CD4A | Q8NCU7 | 702 |
| UNC79 | NALF2 | O75949 | 577 |
| UNC79 | CEACAM4 | O75871 | 575 |
| UNC79 | UNC119 | Q13432 | 539 |
| UNC79 | GK5 | Q6ZS86 | 488 |
| UNC79 | STOML1 | Q9UBI4 | 476 |
| UNC79 | SPIDR | Q14159 | 456 |
| UNC79 | DYM | Q7RTS9 | 456 |
| UNC79 | BTBD7 | Q9P203 | 449 |
| UNC79 | UBR7 | Q8N806 | 444 |
| UNC79 | TMEM117 | Q9H0C3 | 438 |
| UNC79 | STRBP | Q96SI9 | 426 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CALM1 | NALF1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| UNC79 | HMGA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| UNC79 | H2AC4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IGHA1 | PLG | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (13): UNC79 (Affinity Capture-MS), UNC79 (Affinity Capture-MS), UNC79 (Affinity Capture-MS), UNC79 (Affinity Capture-MS), UNC79 (Proximity Label-MS), UNC79 (Proximity Label-MS), UNC79 (Affinity Capture-MS), PSMA8 (Cross-Linking-MS (XL-MS)), UNC79 (Cross-Linking-MS (XL-MS)), UNC79 (Co-fractionation), UNC79 (Proximity Label-MS), UNC79 (Affinity Capture-RNA), UNC79 (Reconstituted Complex)
ESM2 similar proteins: A0JMW6, A1A535, A1A5P5, A1L1L2, A1L2I9, A2BID5, A4FV45, A7Z033, F1QN74, P56695, Q08CY4, Q0KK59, Q14D04, Q2PW47, Q3UHQ6, Q568Z0, Q5FWU8, Q5JWR5, Q5PQS3, Q5SPP5, Q5U249, Q642P2, Q68F70, Q68Y81, Q6DRL5, Q6GPP1, Q6GQ26, Q6IV68, Q6NUQ4, Q6PI53, Q7SYB2, Q7Z3E5, Q7ZYV9, Q80V62, Q80X82, Q8BL99, Q8BM55, Q8CIM8, Q8JGR7, Q8K1H7
Diamond homologs: P42173, Q0KK59, Q9P2D8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UNC80 | “up-regulates activity” | UNC79 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
416 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 6 |
| Uncertain significance | 335 |
| Likely benign | 43 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (14)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3370626 | NM_001395159.1(UNC79):c.6973C>T (p.Arg2325Ter) | Pathogenic |
| 3813609 | NM_001395159.1(UNC79):c.1879del (p.Glu627fs) | Pathogenic |
| 3813610 | NM_001395159.1(UNC79):c.4027C>T (p.Gln1343Ter) | Pathogenic |
| 3901859 | NM_001395159.1(UNC79):c.4658dup (p.His1554fs) | Pathogenic |
| 3977809 | NM_001395159.1(UNC79):c.751A>T (p.Lys251Ter) | Pathogenic |
| 4278632 | NM_001395159.1(UNC79):c.2601C>A (p.Cys867Ter) | Pathogenic |
| 4531490 | NM_001395159.1(UNC79):c.7695_7697delinsT (p.Asn2566fs) | Pathogenic |
| 4683117 | NM_001395159.1(UNC79):c.5542dup (p.Glu1848fs) | Pathogenic |
| 4088188 | NM_001395159.1(UNC79):c.2236C>T (p.Arg746Ter) | Likely pathogenic |
| 4196313 | NM_001395159.1(UNC79):c.7089del (p.Asp2363fs) | Likely pathogenic |
| 4292289 | NM_001395159.1(UNC79):c.4107+1del | Likely pathogenic |
| 4528309 | NM_001395159.1(UNC79):c.6955C>T (p.Arg2319Ter) | Likely pathogenic |
| 4538265 | NM_001395159.1(UNC79):c.6047_6048dup (p.Glu2017fs) | Likely pathogenic |
| 4730260 | NM_001395159.1(UNC79):c.3191-2A>C | Likely pathogenic |
SpliceAI
9462 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:93333460:A:T | donor_gain | 1.0000 |
| 14:93351145:G:GT | donor_gain | 1.0000 |
| 14:93455657:T:TA | donor_gain | 1.0000 |
| 14:93455658:A:AA | donor_gain | 1.0000 |
| 14:93467669:A:AG | acceptor_gain | 1.0000 |
| 14:93467670:G:GG | acceptor_gain | 1.0000 |
| 14:93467670:GTT:G | acceptor_gain | 1.0000 |
| 14:93477554:GTAG:G | acceptor_loss | 1.0000 |
| 14:93477555:TA:T | acceptor_loss | 1.0000 |
| 14:93477556:A:AG | acceptor_gain | 1.0000 |
| 14:93477557:G:GA | acceptor_gain | 1.0000 |
| 14:93477557:G:GC | acceptor_loss | 1.0000 |
| 14:93477557:GAT:G | acceptor_gain | 1.0000 |
| 14:93477722:GCTA:G | donor_gain | 1.0000 |
| 14:93477725:ATATG:A | donor_loss | 1.0000 |
| 14:93477727:ATGT:A | donor_loss | 1.0000 |
| 14:93477728:TG:T | donor_loss | 1.0000 |
| 14:93477729:G:C | donor_loss | 1.0000 |
| 14:93477729:G:GG | donor_gain | 1.0000 |
| 14:93477730:TAA:T | donor_loss | 1.0000 |
| 14:93487661:A:AG | acceptor_gain | 1.0000 |
| 14:93487662:G:GG | acceptor_gain | 1.0000 |
| 14:93496467:G:GG | donor_gain | 1.0000 |
| 14:93528645:GG:G | donor_gain | 1.0000 |
| 14:93528646:GG:G | donor_gain | 1.0000 |
| 14:93537987:A:AG | acceptor_gain | 1.0000 |
| 14:93537988:G:GA | acceptor_gain | 1.0000 |
| 14:93537988:GAACT:G | acceptor_gain | 1.0000 |
| 14:93538214:ATCAG:A | donor_gain | 1.0000 |
| 14:93538216:CAG:C | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000011634 (14:93352653 C>A), RS1000020735 (14:93556448 A>T), RS1000030835 (14:93639820 T>A), RS1000034822 (14:93462804 A>C,G,T), RS1000036302 (14:93691186 C>A,T), RS1000051356 (14:93629172 C>A), RS1000065416 (14:93508630 A>T), RS1000084545 (14:93500010 G>A), RS1000093750 (14:93360004 A>G), RS1000102198 (14:93564290 A>G), RS1000106999 (14:93452520 C>G), RS1000109486 (14:93692656 A>G), RS1000109768 (14:93360150 G>A,T), RS1000110496 (14:93407438 T>G), RS1000111583 (14:93669622 C>A,G)
Disease associations
OMIM: gene MIM:616884 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Strong | Autosomal dominant |
| neurodevelopmental disorder | Strong | Autosomal dominant |
Mondo (5): autism spectrum disorder (MONDO:0005258), prostate cancer (MONDO:0008315), neurodevelopmental disorder (MONDO:0700092), epilepsy (MONDO:0005027), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003980_5 | Sleep duration | 1.000000e-07 |
| GCST004904_2 | Body mass index | 2.000000e-09 |
| GCST005830_138 | Hand grip strength | 2.000000e-09 |
| GCST005951_7 | Body mass index | 4.000000e-08 |
| GCST007519_2 | Adult asthma | 3.000000e-06 |
| GCST009391_1242 | Metabolite levels | 7.000000e-06 |
| GCST010774_6 | Essential hypertension (time to event) | 1.000000e-07 |
| GCST010988_544 | Adult body size | 1.000000e-20 |
| GCST90000047_251 | Age at first sexual intercourse | 2.000000e-11 |
| GCST90000514_23 | Gastroesophageal reflux disease | 8.000000e-10 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0006941 | grip strength measurement |
| EFO:0010422 | triacylglycerol 54:4 measurement |
| EFO:0004918 | age at diagnosis |
| EFO:0009749 | age at first sexual intercourse measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D004827 | Epilepsy | C10.228.140.490 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases methylation | 2 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| tobacco tar | decreases reaction, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| diallyl disulfide | decreases reaction, increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| allyl sulfide | decreases reaction, increases expression | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Methapyrilene | increases methylation | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
500 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-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 |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder, essential hypertension, gastroesophageal reflux disease, neurodevelopmental disorder