GPATCH11
gene geneOn this page
Also known as FLJ38348CENPYCENP-Y
Summary
GPATCH11 (G-patch domain containing 11, HGNC:26768) is a protein-coding gene on chromosome 2p22.2, encoding G patch domain-containing protein 11 (Q8N954).
Predicted to enable nucleic acid binding activity. Located in kinetochore.
Source: NCBI Gene 253635 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
- Clinical variants (ClinVar): 51 total — 4 pathogenic
- MANE Select transcript:
NM_174931
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26768 |
| Approved symbol | GPATCH11 |
| Name | G-patch domain containing 11 |
| Location | 2p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ38348, CENPY, CENP-Y |
| Ensembl gene | ENSG00000152133 |
| Ensembl biotype | protein_coding |
| OMIM | 621183 |
| Entrez | 253635 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000281932, ENST00000473067, ENST00000674370, ENST00000964376, ENST00000964377
RefSeq mRNA: 9 — MANE Select: NM_174931
NM_001278505, NM_001322249, NM_001371856, NM_001371858, NM_001371859, NM_001371860, NM_001371861, NM_001371862, NM_174931
CCDS: CCDS1785
Canonical transcript exons
ENST00000674370 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001153301 | 37094082 | 37094195 |
| ENSE00001213466 | 37095437 | 37095518 |
| ENSE00001427985 | 37089640 | 37089866 |
| ENSE00001480030 | 37090681 | 37090722 |
| ENSE00001583953 | 37096208 | 37099244 |
| ENSE00001951164 | 37084518 | 37084570 |
| ENSE00003520100 | 37091916 | 37092036 |
| ENSE00003617907 | 37092165 | 37092255 |
| ENSE00003898684 | 37088369 | 37088440 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 90.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1036 / max 832.5096, expressed in 1734 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 19749 | 14.3955 | 1715 |
| 19746 | 0.7146 | 296 |
| 19748 | 0.6097 | 307 |
| 202159 | 0.2651 | 121 |
| 19747 | 0.1187 | 50 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 90.07 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.46 | gold quality |
| pancreatic ductal cell | CL:0002079 | 86.92 | gold quality |
| tendon | UBERON:0000043 | 85.51 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.14 | gold quality |
| endothelial cell | CL:0000115 | 84.85 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 84.59 | silver quality |
| adipose tissue | UBERON:0001013 | 84.25 | gold quality |
| upper arm skin | UBERON:0004263 | 84.23 | silver quality |
| postcentral gyrus | UBERON:0002581 | 83.69 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 83.64 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 83.20 | gold quality |
| myocardium | UBERON:0002349 | 83.16 | silver quality |
| medial globus pallidus | UBERON:0002477 | 82.92 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 82.74 | gold quality |
| entorhinal cortex | UBERON:0002728 | 82.70 | gold quality |
| lymph node | UBERON:0000029 | 82.67 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 82.67 | gold quality |
| ventricular zone | UBERON:0003053 | 82.57 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.51 | gold quality |
| corpus callosum | UBERON:0002336 | 82.40 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 82.40 | gold quality |
| parietal lobe | UBERON:0001872 | 82.32 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.22 | gold quality |
| primary visual cortex | UBERON:0002436 | 82.20 | gold quality |
| spinal cord | UBERON:0002240 | 82.06 | gold quality |
| globus pallidus | UBERON:0001875 | 81.54 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.48 | gold quality |
| cortical plate | UBERON:0005343 | 81.36 | gold quality |
| ganglionic eminence | UBERON:0004023 | 81.23 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.20 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
157 targeting GPATCH11, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| 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-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpatch11 | ENSDARG00000026892 |
| mus_musculus | Gpatch11 | ENSMUSG00000050668 |
| rattus_norvegicus | Gpatch11 | ENSRNOG00000025317 |
| drosophila_melanogaster | CG10053 | FBGN0037490 |
| caenorhabditis_elegans | WBGENE00011451 |
Protein
Protein identifiers
G patch domain-containing protein 11 — Q8N954 (reviewed: Q8N954)
Alternative names: Centromeric protein Y, Coiled-coil domain-containing protein 75
All UniProt accessions (2): A0A6I8PRS5, A0A6Q8JGY2
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Chromosome. Centromere. Kinetochore.
Similarity. Belongs to the GPATCH11 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N954-1 | 1 | yes |
| Q8N954-2 | 2 |
RefSeq proteins (9): NP_001265434, NP_001309178, NP_001358785, NP_001358787, NP_001358788, NP_001358789, NP_001358790, NP_001358791, NP_777591* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000467 | G_patch_dom | Domain |
| IPR025239 | DUF4187 | Domain |
| IPR039249 | GPATCH11 | Family |
Pfam: PF01585, PF13821
UniProt features (10 total): region of interest 2, modified residue 2, splice variant 2, chain 1, domain 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N954-F1 | 80.60 | 0.42 |
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): 141, 149
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 97 (showing top):
FXR_IR1_Q6, TGCGCANK_UNKNOWN, CEBP_Q2, GGCKCATGS_UNKNOWN, RYTTCCTG_ETS2_B, FISCHER_DREAM_TARGETS, YNGTTNNNATT_UNKNOWN, GOCC_CHROMOSOMAL_REGION, GOCC_CONDENSED_CHROMOSOME_CENTROMERIC_REGION, CEBPB_02, chr2p22, GOCC_SUPRAMOLECULAR_COMPLEX, NRF1_Q6, HHEX_TARGET_GENES, HOXB4_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (1): nucleic acid binding (GO:0003676)
GO Cellular Component (1): kinetochore (GO:0000776)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| condensed chromosome, centromeric region | 1 |
| intracellular membraneless organelle | 1 |
| supramolecular complex | 1 |
Protein interactions and networks
STRING
1280 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPATCH11 | YJU2B | P13994 | 580 |
| GPATCH11 | CCDC97 | Q96F63 | 528 |
| GPATCH11 | GEM | P55040 | 510 |
| GPATCH11 | NRDC | O43847 | 494 |
| GPATCH11 | TTC27 | Q6P3X3 | 456 |
| GPATCH11 | FN3KRP | Q9HA64 | 453 |
| GPATCH11 | U2SURP | O15042 | 451 |
| GPATCH11 | C4orf33 | Q8N1A6 | 446 |
| GPATCH11 | CEP128 | Q6ZU80 | 424 |
| GPATCH11 | CHERP | Q8IWX8 | 422 |
| GPATCH11 | CDKL4 | Q5MAI5 | 417 |
| GPATCH11 | DRC1 | Q96MC2 | 415 |
| GPATCH11 | TMEM255A | Q5JRV8 | 393 |
| GPATCH11 | ZNF276 | Q8N554 | 391 |
| GPATCH11 | SF3A2 | Q15428 | 379 |
IntAct
77 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.910 |
| SMNDC1 | SF3B1 | psi-mi:“MI:0914”(association) | 0.790 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| RBM17 | U2SURP | psi-mi:“MI:0914”(association) | 0.740 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPG | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPB | PRMT5 | psi-mi:“MI:0914”(association) | 0.670 |
| SNRPA1 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.640 |
| DNAJC8 | SF3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| GPATCH11 | ADGRB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDCBP | GPATCH11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRB3 | GPATCH11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPN | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| SF3A3 | SF3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPF | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| U2AF2 | U2SURP | psi-mi:“MI:0914”(association) | 0.480 |
| SMNDC1 | U2SURP | psi-mi:“MI:0914”(association) | 0.480 |
| GPATCH11 | RPLP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (78): GPATCH11 (Two-hybrid), GPATCH11 (Two-hybrid), GPATCH11 (Affinity Capture-RNA), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Proximity Label-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS), GPATCH11 (Affinity Capture-MS)
ESM2 similar proteins: A3KMI0, A7SBN6, B3MPC0, B3N8L3, B4G7U3, B4HWD7, B4JCG4, B4KH32, B4M9F7, B4NYQ2, B4Q8A7, C0HAV3, E7EXT2, E9PZM4, O13747, O14647, O75940, P87143, Q09655, Q0IIX9, Q17CQ8, Q29NF3, Q2KI19, Q3T045, Q3UFS4, Q4QQU6, Q5R591, Q5RET3, Q5U2Y6, Q5U4Z3, Q6DEY1, Q6DF57, Q6DGZ0, Q6K687, Q6PD74, Q7PYU6, Q7SXW2, Q7ZV80, Q8BGT7, Q8N954
Diamond homologs: A0JMV4, A4IGK4, A5DEF8, A5DSB5, A6ZRL6, A7TQN2, O74363, P53866, Q3UFS4, Q59UG4, Q6BYP9, Q6CQ59, Q6DDU9, Q6DF57, Q6FP19, Q75E62, Q7TN31, Q7TQC7, Q875B6, Q8N302, Q8N954, Q9NW75, A2VE39, A4HQI9, A8XYX2, A8XYX3, D2HRF1, P0C967, P0C968, P0C969, P0C970, P41469, Q2KI19, Q38AH0, Q4E123, Q4Q089, Q54WR1, Q5R981, Q5RAY7, Q5U2Z5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 79 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Metabolism of non-coding RNA | 6 | 63.4× | 9e-09 |
| mRNA Splicing - Minor Pathway | 11 | 41.0× | 5e-14 |
| mRNA Splicing | 22 | 40.3× | 1e-28 |
| mRNA Polyadenylation | 26 | 38.1× | 2e-33 |
| SARS-CoV-2 modulates host translation machinery | 10 | 37.3× | 3e-12 |
| CHD1 and CHD2 subfamily | 20 | 36.2× | 5e-25 |
| Processing of Capped Intron-Containing Pre-mRNA | 23 | 31.5× | 1e-27 |
| mRNA Splicing - Major Pathway | 30 | 27.3× | 2e-34 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 17 | 149.4× | 2e-32 |
| spliceosomal complex assembly | 8 | 67.8× | 2e-11 |
| spliceosomal snRNP assembly | 7 | 57.3× | 2e-09 |
| negative regulation of mRNA splicing, via spliceosome | 5 | 53.9× | 1e-06 |
| RNA splicing, via transesterification reactions | 6 | 52.7× | 6e-08 |
| mRNA splicing, via spliceosome | 24 | 31.0× | 1e-27 |
| RNA splicing | 16 | 19.9× | 9e-15 |
| ribosomal small subunit biogenesis | 5 | 16.0× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3062155 | NM_174931.4(GPATCH11):c.328+1G>T | Pathogenic |
| 3062156 | NM_174931.4(GPATCH11):c.454C>T (p.Arg152Ter) | Pathogenic |
| 3062157 | NM_174931.4(GPATCH11):c.449+1G>C | Pathogenic |
| 3062158 | NM_174931.4(GPATCH11):c.393C>G (p.Tyr131Ter) | Pathogenic |
SpliceAI
1068 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:37084569:AG:A | donor_loss | 1.0000 |
| 2:37088436:GTCCA:G | donor_gain | 1.0000 |
| 2:37088441:G:GG | donor_gain | 1.0000 |
| 2:37089639:GAGAA:G | acceptor_gain | 1.0000 |
| 2:37089779:TTG:T | donor_gain | 1.0000 |
| 2:37089862:GAGTG:G | donor_gain | 1.0000 |
| 2:37089864:GTG:G | donor_gain | 1.0000 |
| 2:37090678:AAGGG:A | acceptor_gain | 1.0000 |
| 2:37090679:AGGG:A | acceptor_gain | 1.0000 |
| 2:37090680:GGGG:G | acceptor_gain | 1.0000 |
| 2:37091914:A:AG | acceptor_gain | 1.0000 |
| 2:37091914:A:C | acceptor_loss | 1.0000 |
| 2:37091914:AG:A | acceptor_gain | 1.0000 |
| 2:37091914:AGG:A | acceptor_gain | 1.0000 |
| 2:37091915:G:A | acceptor_loss | 1.0000 |
| 2:37091915:G:GA | acceptor_gain | 1.0000 |
| 2:37091915:GG:G | acceptor_gain | 1.0000 |
| 2:37091915:GGG:G | acceptor_gain | 1.0000 |
| 2:37091915:GGGA:G | acceptor_gain | 1.0000 |
| 2:37092032:T:G | donor_gain | 1.0000 |
| 2:37092033:TTCGG:T | donor_loss | 1.0000 |
| 2:37092035:CGGT:C | donor_loss | 1.0000 |
| 2:37092036:GGT:G | donor_loss | 1.0000 |
| 2:37092037:G:C | donor_loss | 1.0000 |
| 2:37092037:G:GG | donor_gain | 1.0000 |
| 2:37092038:T:A | donor_loss | 1.0000 |
| 2:37092159:A:AG | acceptor_gain | 1.0000 |
| 2:37092160:A:G | acceptor_gain | 1.0000 |
| 2:37092161:TTA:T | acceptor_loss | 1.0000 |
| 2:37092162:TAG:T | acceptor_loss | 1.0000 |
AlphaMissense
1757 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:37089822:T:C | L103P | 0.999 |
| 2:37095491:T:C | C259R | 0.999 |
| 2:37092212:T:C | L188P | 0.998 |
| 2:37092220:A:C | S191R | 0.998 |
| 2:37092222:C:A | S191R | 0.998 |
| 2:37092222:C:G | S191R | 0.998 |
| 2:37095493:T:G | C259W | 0.998 |
| 2:37095500:T:A | C262S | 0.998 |
| 2:37095500:T:C | C262R | 0.998 |
| 2:37095501:G:C | C262S | 0.998 |
| 2:37096231:T:C | C276R | 0.998 |
| 2:37089822:T:A | L103H | 0.997 |
| 2:37092242:T:C | L198P | 0.997 |
| 2:37095492:G:A | C259Y | 0.997 |
| 2:37095497:T:A | W261R | 0.997 |
| 2:37095497:T:C | W261R | 0.997 |
| 2:37096231:T:A | C276S | 0.997 |
| 2:37096232:G:C | C276S | 0.997 |
| 2:37096233:T:G | C276W | 0.997 |
| 2:37089768:G:C | R85P | 0.996 |
| 2:37095491:T:A | C259S | 0.996 |
| 2:37095492:G:C | C259S | 0.996 |
| 2:37095501:G:A | C262Y | 0.996 |
| 2:37095501:G:T | C262F | 0.996 |
| 2:37089836:T:G | Y108D | 0.995 |
| 2:37092224:A:C | Q192P | 0.995 |
| 2:37092232:T:C | C195R | 0.995 |
| 2:37092234:T:G | C195W | 0.995 |
| 2:37095492:G:T | C259F | 0.995 |
| 2:37095499:G:C | W261C | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000151344 (2:37083994 A>C,G), RS1000466203 (2:37095153 A>T), RS1001045148 (2:37082912 G>A,C,T), RS1001559663 (2:37082736 G>A), RS1001658554 (2:37083736 C>A,T), RS1001682558 (2:37093928 T>C), RS1001903623 (2:37098517 G>GAGTT), RS1002957660 (2:37092469 T>TCA), RS1003580220 (2:37097187 G>C), RS1003666734 (2:37094897 C>T), RS1003714825 (2:37088510 T>G), RS1003743280 (2:37091228 G>A,T), RS1003928114 (2:37084465 T>C,G), RS1004064046 (2:37084695 G>A,C), RS1004137877 (2:37096017 C>T)
Disease associations
OMIM: gene MIM:621183 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal recessive |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects expression | 1 |
| resorcinol | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Coumestrol | increases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, affects expression, decreases expression | 1 |
| Indomethacin | decreases expression, affects cotreatment, affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Sodium Dodecyl Sulfate | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Vincristine | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, affects expression, decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Gold Compounds | decreases expression | 1 |
| Sodium Selenite | decreases expression | 1 |
| Copper Sulfate | affects expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
202 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, |
| 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 |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder