SYNPR
geneOn this page
Also known as MGC26651SPO
Summary
SYNPR (synaptoporin, HGNC:16507) is a protein-coding gene on chromosome 3p14.2, encoding Synaptoporin (Q8TBG9). Intrinsic membrane protein of small synaptic vesicles.
Predicted to be involved in modulation of chemical synaptic transmission. Predicted to be located in membrane; neuron projection; and synaptic vesicle. Predicted to be active in hippocampal mossy fiber to CA3 synapse and synaptic vesicle membrane.
Source: NCBI Gene 132204 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 45 total — 2 pathogenic
- MANE Select transcript:
NM_001130003
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16507 |
| Approved symbol | SYNPR |
| Name | synaptoporin |
| Location | 3p14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC26651, SPO |
| Ensembl gene | ENSG00000163630 |
| Ensembl biotype | protein_coding |
| Entrez | 132204 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 7 protein_coding, 6 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000295894, ENST00000450542, ENST00000460142, ENST00000460711, ENST00000465156, ENST00000467934, ENST00000468110, ENST00000472899, ENST00000478300, ENST00000478456, ENST00000478744, ENST00000479198, ENST00000493532, ENST00000496889, ENST00000498449
RefSeq mRNA: 2 — MANE Select: NM_001130003
NM_001130003, NM_144642
CCDS: CCDS46859, CCDS46860
Canonical transcript exons
ENST00000478300 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001769487 | 63278677 | 63278742 |
| ENSE00001872950 | 63278308 | 63278551 |
| ENSE00003554639 | 63556543 | 63556741 |
| ENSE00003585776 | 63480832 | 63480956 |
| ENSE00003620835 | 63609125 | 63609316 |
| ENSE00003850115 | 63615224 | 63616924 |
Expression profiles
Bgee: expression breadth ubiquitous, 156 present calls, max score 99.03.
FANTOM5 (CAGE): breadth broad, TPM avg 6.6554 / max 992.1752, expressed in 230 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 37120 | 2.6972 | 210 |
| 37130 | 2.3303 | 92 |
| 37131 | 0.5476 | 77 |
| 37127 | 0.2971 | 68 |
| 37126 | 0.2688 | 67 |
| 37123 | 0.1924 | 65 |
| 37128 | 0.1705 | 61 |
| 37124 | 0.0794 | 42 |
| 37129 | 0.0313 | 17 |
| 37125 | 0.0289 | 9 |
Top tissues by expression
239 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral nuclear group of thalamus | UBERON:0002736 | 99.03 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.97 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.32 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.31 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.08 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.93 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.96 | gold quality |
| cerebellum | UBERON:0002037 | 96.74 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.53 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.50 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.46 | gold quality |
| putamen | UBERON:0001874 | 96.02 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.01 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.88 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.81 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.68 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.36 | gold quality |
| parietal lobe | UBERON:0001872 | 95.26 | gold quality |
| frontal cortex | UBERON:0001870 | 94.73 | gold quality |
| entorhinal cortex | UBERON:0002728 | 94.50 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.40 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.28 | gold quality |
| cerebral cortex | UBERON:0000956 | 94.07 | gold quality |
| neocortex | UBERON:0001950 | 93.72 | gold quality |
| temporal lobe | UBERON:0001871 | 93.64 | gold quality |
| amygdala | UBERON:0001876 | 92.78 | gold quality |
| endothelial cell | CL:0000115 | 92.06 | gold quality |
| occipital lobe | UBERON:0002021 | 91.73 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.61 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 1630.31 |
| E-HCAD-35 | yes | 1517.25 |
| E-MTAB-7316 | yes | 1349.06 |
| E-MTAB-11268 | yes | 823.37 |
| E-GEOD-135922 | yes | 22.68 |
| E-GEOD-84465 | yes | 6.75 |
| E-ANND-3 | yes | 5.05 |
| E-HCAD-30 | no | 1073.52 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
75 targeting SYNPR, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
Literature-anchored findings (GeneRIF, showing 3)
- Tyrosine nitration of synaptophysin is related to Amyloid beta induced impairment of acetylcholine release. (PMID:12740598)
- cloning and characterization of the human cDNA that encodes the human homologue of synaptoporin (PMID:12974474)
- Results from genome-wide association studies identify synaptoporin gene as one of the three susceptibility loci candidate for congenital left-sided lesions. (PMID:25138779)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | synpra | ENSDARG00000037587 |
| mus_musculus | Synpr | ENSMUSG00000056296 |
| rattus_norvegicus | Synpr | ENSRNOG00000008203 |
| caenorhabditis_elegans | WBGENE00004979 |
Paralogs (3): SYPL1 (ENSG00000008282), SYP (ENSG00000102003), SYPL2 (ENSG00000143028)
Protein
Protein identifiers
Synaptoporin — Q8TBG9 (reviewed: Q8TBG9)
All UniProt accessions (8): Q8TBG9, B3KVD8, C9J0A2, C9J976, F8WDB8, F8WDF9, F8WE43, F8WF23
UniProt curated annotations — full annotation on UniProt →
Function. Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Synapse. Synaptosome.
Similarity. Belongs to the synaptophysin/synaptobrevin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TBG9-1 | 1 | yes |
| Q8TBG9-2 | 2 |
RefSeq proteins (2): NP_001123475, NP_653243 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001285 | Synaptophysin/porin | Family |
| IPR008253 | Marvel | Domain |
Pfam: PF01284
UniProt features (24 total): topological domain 5, repeat 5, transmembrane region 4, region of interest 2, compositionally biased region 2, glycosylation site 2, chain 1, domain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TBG9-F1 | 75.98 | 0.37 |
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 (1): 212
Glycosylation sites (2): 33, 38
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 100 (showing top):
TTTGTAG_MIR520D, TAL1ALPHAE47_01, TCF4_Q5, WTGAAAT_UNKNOWN, TCF11_01, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, AACTTT_UNKNOWN, MAF_Q6, GOCC_NEURON_PROJECTION, IK3_01, OCT1_B, RIGGI_EWING_SARCOMA_PROGENITOR_UP, chr3p14
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): synaptic vesicle membrane (GO:0030672), neuron projection (GO:0043005), synaptic vesicle (GO:0008021), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| plasma membrane bounded cell projection | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
2112 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYNPR | SYNGR1 | O43759 | 917 |
| SYNPR | SYNGR2 | O43760 | 734 |
| SYNPR | SYN1 | P17600 | 651 |
| SYNPR | SV2B | Q7L1I2 | 558 |
| SYNPR | RAB3A | P20336 | 549 |
| SYNPR | ALS2 | Q96Q42 | 540 |
| SYNPR | SYNGR3 | O43761 | 474 |
| SYNPR | SLC17A7 | Q9P2U7 | 461 |
| SYNPR | SYT1 | P21579 | 457 |
| SYNPR | REELD1 | A0A1B0GV85 | 448 |
| SYNPR | BDNF | P23560 | 443 |
| SYNPR | SYN2 | Q92777 | 430 |
| SYNPR | LRRTM1 | Q86UE6 | 415 |
| SYNPR | SYT6 | Q5T7P8 | 406 |
| SYNPR | FARP2 | O94887 | 402 |
| SYNPR | PICK1 | Q9NRD5 | 402 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYNPR | FATE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FATE1 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNPR | SMCO4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNPR | DOLK | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP6 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.560 |
| TUSC5 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.560 |
| KTN1 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC1A1 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNPR | ARLN | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNPR | LNPK | psi-mi:“MI:0915”(physical association) | 0.500 |
| SYNPR | LNPK | psi-mi:“MI:0915”(physical association) | 0.400 |
| SYNPR | CREB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYNPR | SPAG9 | psi-mi:“MI:0914”(association) | 0.350 |
| SMCO4 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
| DOLK | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLPP6 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
| TUSC5 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
| KTN1 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
| GALNT15 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC1A1 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
| GPR37L1 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
| ARLN | SYNPR | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): SYNPR (Two-hybrid), KIAA1715 (Affinity Capture-MS), KIAA1715 (Affinity Capture-MS), FATE1 (Two-hybrid), CREB3 (Two-hybrid), SYNPR (Two-hybrid), SYNPR (Two-hybrid), SYNPR (Two-hybrid), C4orf3 (Two-hybrid), SMCO4 (Two-hybrid), GPR37L1 (Two-hybrid), DOLK (Two-hybrid), TUSC5 (Two-hybrid), PPAPDC2 (Two-hybrid), KIAA1715 (Affinity Capture-MS)
ESM2 similar proteins: A2VE58, A3KQ86, A6H7B0, A7E3W5, A8MWL6, B2RZ87, O43759, O43760, O43761, O54980, O55100, O55101, O76735, O95473, P07825, P08247, P0DI73, P20488, P22831, P47987, P79826, Q08AU7, Q08DL4, Q28793, Q2YDD6, Q5EBF8, Q5R703, Q5RER2, Q5XGR0, Q5XIT3, Q5YJC1, Q62277, Q62876, Q642A2, Q6RW13, Q7JYV2, Q7TQJ1, Q8BGN8, Q8R191, Q8TBG9
Diamond homologs: O09117, O62646, O89104, P07825, P08247, P20488, P22831, Q16563, Q5VXT5, Q5YJC1, Q62277, Q8BGN8, Q8TBG9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 150755 | GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 | Pathogenic |
| 814449 | GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1 | Pathogenic |
SpliceAI
2998 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:63278547:GTCAG:G | donor_gain | 1.0000 |
| 3:63278550:AG:A | donor_loss | 1.0000 |
| 3:63278551:GGTGA:G | donor_loss | 1.0000 |
| 3:63278552:G:GA | donor_loss | 1.0000 |
| 3:63288353:TTTAA:T | donor_gain | 1.0000 |
| 3:63480830:A:AG | acceptor_gain | 1.0000 |
| 3:63480831:G:GG | acceptor_gain | 1.0000 |
| 3:63480952:TTCAG:T | donor_loss | 1.0000 |
| 3:63480953:TCAGG:T | donor_loss | 1.0000 |
| 3:63480954:CAGG:C | donor_loss | 1.0000 |
| 3:63480955:AGG:A | donor_loss | 1.0000 |
| 3:63480956:GGT:G | donor_loss | 1.0000 |
| 3:63480957:G:T | donor_loss | 1.0000 |
| 3:63480958:T:A | donor_loss | 1.0000 |
| 3:63556737:TCATT:T | donor_gain | 1.0000 |
| 3:63556739:ATT:A | donor_gain | 1.0000 |
| 3:63556740:TT:T | donor_gain | 1.0000 |
| 3:63556742:G:GG | donor_gain | 1.0000 |
| 3:63609158:T:TA | acceptor_gain | 1.0000 |
| 3:63278659:C:A | acceptor_gain | 0.9900 |
| 3:63278665:A:AG | acceptor_gain | 0.9900 |
| 3:63278666:T:G | acceptor_gain | 0.9900 |
| 3:63278674:A:G | acceptor_gain | 0.9900 |
| 3:63480826:CCACA:C | acceptor_loss | 0.9900 |
| 3:63480827:CACAG:C | acceptor_loss | 0.9900 |
| 3:63480828:ACAG:A | acceptor_loss | 0.9900 |
| 3:63480829:C:G | acceptor_gain | 0.9900 |
| 3:63480829:CAG:C | acceptor_loss | 0.9900 |
| 3:63480830:A:C | acceptor_loss | 0.9900 |
| 3:63480831:G:GA | acceptor_loss | 0.9900 |
AlphaMissense
1857 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:63480850:T:C | F15L | 1.000 |
| 3:63480852:T:A | F15L | 1.000 |
| 3:63480852:T:G | F15L | 1.000 |
| 3:63480952:T:C | F49L | 1.000 |
| 3:63480954:C:A | F49L | 1.000 |
| 3:63480954:C:G | F49L | 1.000 |
| 3:63609158:T:A | W128R | 1.000 |
| 3:63609158:T:C | W128R | 1.000 |
| 3:63609179:T:A | W135R | 1.000 |
| 3:63609179:T:C | W135R | 1.000 |
| 3:63609181:G:C | W135C | 1.000 |
| 3:63609181:G:T | W135C | 1.000 |
| 3:63609192:T:C | L139P | 1.000 |
| 3:63609312:C:T | S179F | 1.000 |
| 3:63615230:G:A | G183R | 1.000 |
| 3:63615230:G:C | G183R | 1.000 |
| 3:63615231:G:A | G183E | 1.000 |
| 3:63615241:C:A | N186K | 1.000 |
| 3:63615241:C:G | N186K | 1.000 |
| 3:63615251:T:A | W190R | 1.000 |
| 3:63615251:T:C | W190R | 1.000 |
| 3:63615269:T:C | F196L | 1.000 |
| 3:63615271:T:A | F196L | 1.000 |
| 3:63615271:T:G | F196L | 1.000 |
| 3:63615280:G:C | K199N | 1.000 |
| 3:63615280:G:T | K199N | 1.000 |
| 3:63480848:C:A | A14E | 0.999 |
| 3:63480860:G:A | C18Y | 0.999 |
| 3:63480861:C:G | C18W | 0.999 |
| 3:63480898:T:A | C31S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000006486 (3:63263529 T>C), RS1000007625 (3:63587975 A>G), RS1000011324 (3:63380948 A>C), RS1000013173 (3:63198674 T>C,G), RS1000020356 (3:63367571 G>A,C), RS1000031477 (3:63367944 T>C), RS1000034307 (3:63404549 G>A,T), RS1000035545 (3:63417454 C>T), RS1000036588 (3:63308363 T>C), RS1000042281 (3:63265800 C>T), RS1000048894 (3:63546137 G>C), RS1000050858 (3:63548384 G>A,C,T), RS1000055836 (3:63424170 T>C), RS1000061394 (3:63443073 G>A,T), RS1000069527 (3:63301738 T>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): intellectual disability (MONDO:0001071)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002572_2 | Congenital left-sided heart lesions | 3.000000e-07 |
| GCST004718_10 | Congenital heart disease (inherited effect) | 4.000000e-06 |
| GCST005231_46 | Major depressive disorder | 6.000000e-06 |
| GCST008153_50 | Lean body mass | 9.000000e-06 |
| GCST010172_13 | Idiopathic downbeat nystagmus | 9.000000e-06 |
| GCST012498_3 | Autism | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004995 | lean body mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Lead | affects expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| p-Chloromercuribenzoic Acid | increases expression | 1 |
Clinical trials (associated diseases)
197 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
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| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
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| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
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| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
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| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital left-sided heart lesions