TMPRSS11D
gene geneOn this page
Also known as HATASP
Summary
TMPRSS11D (transmembrane serine protease 11D, HGNC:24059) is a protein-coding gene on chromosome 4q13.2, encoding Transmembrane protease serine 11D (O60235). May play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions.
This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins.
Source: NCBI Gene 9407 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 57 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_004262
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24059 |
| Approved symbol | TMPRSS11D |
| Name | transmembrane serine protease 11D |
| Location | 4q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HAT, ASP |
| Ensembl gene | ENSG00000153802 |
| Ensembl biotype | protein_coding |
| OMIM | 605369 |
| Entrez | 9407 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding_CDS_not_defined, 2 protein_coding, 2 retained_intron
ENST00000283916, ENST00000502573, ENST00000502822, ENST00000505533, ENST00000508409, ENST00000509584, ENST00000511931, ENST00000514868
RefSeq mRNA: 1 — MANE Select: NM_004262
NM_004262
CCDS: CCDS3518
Canonical transcript exons
ENST00000283916 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001228417 | 67820876 | 67822498 |
| ENSE00002045096 | 67883926 | 67884002 |
| ENSE00003490097 | 67859557 | 67859678 |
| ENSE00003535368 | 67827261 | 67827520 |
| ENSE00003556113 | 67833204 | 67833381 |
| ENSE00003591598 | 67825732 | 67825874 |
| ENSE00003602290 | 67854068 | 67854186 |
| ENSE00003624208 | 67838172 | 67838329 |
| ENSE00003628627 | 67835083 | 67835121 |
| ENSE00003687534 | 67842558 | 67842625 |
Expression profiles
Bgee: expression breadth ubiquitous, 168 present calls, max score 99.36.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3406 / max 116.5213, expressed in 45 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52318 | 0.3057 | 42 |
| 52319 | 0.0348 | 17 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tongue squamous epithelium | UBERON:0006919 | 99.36 | gold quality |
| gingiva | UBERON:0001828 | 99.28 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.27 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.74 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.56 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.95 | gold quality |
| cervix epithelium | UBERON:0004801 | 97.59 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.93 | gold quality |
| oral cavity | UBERON:0000167 | 96.39 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 96.26 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.10 | gold quality |
| body of tongue | UBERON:0011876 | 94.71 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.55 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.34 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.26 | gold quality |
| periodontal ligament | UBERON:0008266 | 91.73 | gold quality |
| penis | UBERON:0000989 | 91.17 | gold quality |
| tongue | UBERON:0001723 | 90.50 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.04 | gold quality |
| mammalian vulva | UBERON:0000997 | 89.39 | gold quality |
| vagina | UBERON:0000996 | 88.39 | gold quality |
| sperm | CL:0000019 | 87.33 | gold quality |
| male germ cell | CL:0000015 | 86.86 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 86.22 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.88 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 84.01 | gold quality |
| nasopharynx | UBERON:0001728 | 83.99 | gold quality |
| superior surface of tongue | UBERON:0007371 | 83.69 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 81.56 | gold quality |
| pancreatic ductal cell | CL:0002079 | 81.54 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF2, NR5A1, TFAP2A
miRNA regulators (miRDB)
81 targeting TMPRSS11D, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
Literature-anchored findings (GeneRIF, showing 19)
- HAT regulates cellular functions of human bronchial epithelial cells via activation of protease-activated receptor-2. (PMID:12630574)
- HAT might promote PAR-2-mediated IL-8 production to accumulate inflammatory cells in the epidermal layer of psoriasis. (PMID:15102084)
- results indicate that HAT stimulates fibroblast proliferation in bronchial airways through a PAR-2-dependent MEK-MAPK mediated pathway and that HAT is linked to airway processes involving fibroblasts (PMID:16199437)
- HAT induces amphiregulin production through the PAR-2 mediated ERK pathway, and then causes amphiregulin release by a TACE-dependent mechanism (PMID:16336275)
- TMPRSS2 and HAT are candidates for proteolytic activation of influenza viruses in vivo (PMID:16973594)
- Human HAT cleaved severe acute respiratory syndrome coronavirus spike protein at R667, as determined by mutagenesis and mass spectrometry. (PMID:21994442)
- results suggest that HAI-1 functions as a physiological regulator of HAT by inhibiting its protease activity and proteolytic activation in airway epithelium.(HAT) (PMID:22023801)
- HAT cleaves proMSP at the physiological activation site (PMID:22245154)
- TMPRSS2 and HAT are expressed by important influenza and SARS-coronavirus target cells and could thus support viral spread in the human host. (PMID:22558251)
- H9N2 viruses with R-S-S-R or R-S-R-R cleavage sites in hemagglutinin are activated by matriptase in addition to HAT and TMPRSS2 and, therefore, can be activated in a wide range of tissues what may affect virus spread, tissue tropism and pathogenicity. (PMID:23192872)
- HAT expression may potentially be useful as a marker for clinical grading and assessment of patient prognosis in squamous cell carcinomas (PMID:26297835)
- we conclude that TMPRSS11D could play a role in non-small cell lung cancer development and progression (PMID:28086212)
- High HAT expression is associated with Idiopathic pulmonary fibrosis. (PMID:29122847)
- HAT concentration in saliva was measured by ELISA, and immunoreactive HAT:total protein ratio (ng/mg) in saliva samples from healthy subjects was similar to that in mucoid sputum. RT-PCR showed that HAT mRNA was expressed in gingival epithelial cells but not in gingival fibroblasts. (PMID:30282870)
- serine proteases transmembrane protein serine 11D and kallikrein-related peptidase 13 were shown as active proteases in Cervical-vaginal fluid. (PMID:30647911)
- results indicate that HAT stimulates IL-8 synthesis in airway epithelial cells via PAR2 and could help to amplify inflammation in chronic respiratory tract disease (PMID:30677406)
- TMPRSS11D and TMPRSS13 Activate the SARS-CoV-2 Spike Protein. (PMID:33671076)
- HalphaT is associated with increased risk for severe Hymenoptera venom-triggered anaphylaxis. (PMID:36529562)
- TMPRSS11D/ALR-mediated ER stress regulates the function of myeloid-derived suppressor cells in the cervical cancer microenvironment. (PMID:37666068)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | st14b | ENSDARG00000044655 |
| danio_rerio | st14a | ENSDARG00000061173 |
| danio_rerio | ENSDARG00000062758 | |
| danio_rerio | tmprss15 | ENSDARG00000079393 |
| mus_musculus | Tmprss11d | ENSMUSG00000061259 |
| rattus_norvegicus | Tmprss11d | ENSRNOG00000055991 |
| drosophila_melanogaster | Sb | FBGN0003319 |
| drosophila_melanogaster | CG1632 | FBGN0030027 |
| drosophila_melanogaster | CG10587 | FBGN0037039 |
| drosophila_melanogaster | CG17242 | FBGN0250841 |
Paralogs (17): PRSS22 (ENSG00000005001), PRSS21 (ENSG00000007038), TMPRSS11E (ENSG00000087128), HPN (ENSG00000105707), TMPRSS13 (ENSG00000137747), ST14 (ENSG00000149418), TMPRSS15 (ENSG00000154646), TMPRSS3 (ENSG00000160183), TMPRSS5 (ENSG00000166682), TMPRSS7 (ENSG00000176040), TMPRSS9 (ENSG00000178297), TMPRSS2 (ENSG00000184012), TMPRSS11B (ENSG00000185873), TMPRSS6 (ENSG00000187045), TMPRSS11A (ENSG00000187054), TMPRSS11F (ENSG00000198092), PRSS41 (ENSG00000215148)
Protein
Protein identifiers
Transmembrane protease serine 11D — O60235 (reviewed: O60235)
Alternative names: Airway trypsin-like protease
All UniProt accessions (2): O60235, H0Y8K7
UniProt curated annotations — full annotation on UniProt →
Function. May play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. Plays a role in the proteolytic processing of ACE2. Proteolytically cleaves and activates the human coronavirus 229E (HCoV-229E) spike glycoprotein which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Preferentially cleaves the C-terminal side of arginine residues at the P1 position of certain peptides, cleaving Boc-Phe-Ser-Arg-4-methylcoumaryl-7-amide most efficiently and having an optimum pH of 8.6 with this substrate.
Subunit / interactions. Monomer.
Subcellular location. Cell membrane Secreted.
Tissue specificity. Located in the cells of the submucosal serous glands of the bronchi and trachea.
Activity regulation. Strongly inhibited by diisopropyl fluorophosphate, leupeptin, antipain, aprotinin, and soybean trypsin inhibitor, but hardly inhibited by secretory leukocyte protease inhibitor at 10 microM.
Similarity. Belongs to the peptidase S1 family.
RefSeq proteins (1): NP_004253* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000082 | SEA_dom | Domain |
| IPR001254 | Trypsin_dom | Domain |
| IPR001314 | Peptidase_S1A | Family |
| IPR009003 | Peptidase_S1_PA | Homologous_superfamily |
| IPR017329 | Pept_S1A_HAT/DESC1 | Family |
| IPR018114 | TRYPSIN_HIS | Active_site |
| IPR033116 | TRYPSIN_SER | Active_site |
| IPR036364 | SEA_dom_sf | Homologous_superfamily |
| IPR043504 |
Pfam: PF00089, PF01390
Enzyme classification (BRENDA):
- EC 3.4.21.B61 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
UniProt features (15 total): disulfide bond 4, active site 3, chain 2, topological domain 2, domain 2, glycosylation site 1, transmembrane region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8VIS | X-RAY DIFFRACTION | 1.59 |
| 9DPF | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60235-F1 | 90.42 | 0.73 |
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 (3): 227 (charge relay system); 272 (charge relay system); 368 (charge relay system)
Disulfide bonds (4): 173–292, 212–228, 337–353, 364–393
Glycosylation sites (1): 144
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 78 (showing top):
GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, chr4q13, GOBP_PROTEIN_MATURATION, GROSS_HIF1A_TARGETS_DN, GROSS_HYPOXIA_VIA_HIF1A_DN, MODULE_99, RGAGGAARY_PU1_Q6, TAATTA_CHX10_01, GAL_LEUKEMIC_STEM_CELL_UP, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, YAGI_AML_WITH_T_8_21_TRANSLOCATION, RICKMAN_HEAD_AND_NECK_CANCER_E
GO Biological Process (2): proteolysis (GO:0006508), respiratory gaseous exchange by respiratory system (GO:0007585)
GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), peptidase activity (GO:0008233), serine-type peptidase activity (GO:0008236), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| multicellular organismal process | 1 |
| endopeptidase activity | 1 |
| serine-type peptidase activity | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| serine hydrolase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
942 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMPRSS11D | FURIN | P09958 | 667 |
| TMPRSS11D | ACE2 | Q9BYF1 | 639 |
| TMPRSS11D | CTSL | P07711 | 609 |
| TMPRSS11D | CTSS | P25774 | 544 |
| TMPRSS11D | SERPINA5 | P05154 | 518 |
| TMPRSS11D | GFER | P55789 | 511 |
| TMPRSS11D | ZBED5 | Q49AG3 | 479 |
| TMPRSS11D | ZBED1 | O96006 | 430 |
| TMPRSS11D | SPINT1 | O43278 | 409 |
| TMPRSS11D | CTSB | P07858 | 397 |
| TMPRSS11D | IL1RN | P18510 | 396 |
| TMPRSS11D | ZBED4 | O75132 | 395 |
| TMPRSS11D | IL1A | P01583 | 394 |
| TMPRSS11D | SCAND3 | Q6R2W3 | 393 |
| TMPRSS11D | DPP4 | P27487 | 392 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SGTA | TMPRSS11D | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMPRSS11D | S | psi-mi:“MI:0570”(protein cleavage) | 0.440 |
| TMPRSS11D | MST1 | psi-mi:“MI:0194”(cleavage reaction) | 0.440 |
| SRRT | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| FNDC5 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS11D | SGTA | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (8): ACE2 (Biochemical Activity), S (Biochemical Activity), TMPRSS11D (Two-hybrid), TMPRSS11D (Affinity Capture-MS), TMPRSS11D (Affinity Capture-MS), TMPRSS11D (Biochemical Activity), S (Biochemical Activity), TMPRSS11D (Co-crystal Structure)
ESM2 similar proteins: A0A126GUP6, A0A1S4H5M5, A0A1S4H5S2, A6MFK7, B5U2W0, F5HKX0, O60235, O88947, O97366, P00740, P05049, P13582, P15120, P15638, P16292, P16293, P16294, P19540, P21902, P25155, P29598, P49150, P81428, P82807, P83370, P98121, Q14C59, Q27081, Q27083, Q2VG86, Q3UQ41, Q49QW1, Q4QXT9, Q63207, Q6ZMR5, Q7PEV7, Q7QBP4, Q804X6, Q8I6K0, Q8MZM7
Diamond homologs: A0A126GUP6, A0A182C2Z2, A0A1S4H5M5, A8JUP7, B5U2W0, B7YZU2, F5HKX0, O15393, O35453, O60235, O60259, O97366, P00774, P03951, P03952, P05049, P05981, P08419, P09871, P10323, P13582, P14272, P21902, P23578, P25155, P26262, P28175, P29293, P31394, P33587, P35035, P35036, P35037, P35039, P35041, P35045, P35046, P35047, P40313, P48038
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 47 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 635941 | Single allele | Likely pathogenic |
SpliceAI
1338 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:67838168:TTA:T | donor_loss | 1.0000 |
| 4:67838169:TA:T | donor_loss | 1.0000 |
| 4:67838170:A:AC | donor_gain | 1.0000 |
| 4:67838170:ACATG:A | donor_loss | 1.0000 |
| 4:67838171:C:CA | donor_gain | 1.0000 |
| 4:67838171:CA:C | donor_gain | 1.0000 |
| 4:67838171:CAT:C | donor_gain | 1.0000 |
| 4:67838171:CATG:C | donor_gain | 1.0000 |
| 4:67838171:CATGT:C | donor_gain | 1.0000 |
| 4:67838325:CTTGC:C | acceptor_gain | 1.0000 |
| 4:67838327:TGCC:T | acceptor_loss | 1.0000 |
| 4:67838328:GCCTG:G | acceptor_loss | 1.0000 |
| 4:67838330:C:CA | acceptor_loss | 1.0000 |
| 4:67838330:C:CC | acceptor_gain | 1.0000 |
| 4:67838338:CA:C | acceptor_gain | 1.0000 |
| 4:67838339:A:C | acceptor_gain | 1.0000 |
| 4:67854062:ACTT:A | donor_loss | 1.0000 |
| 4:67854063:CTT:C | donor_loss | 1.0000 |
| 4:67854064:TTACC:T | donor_loss | 1.0000 |
| 4:67854065:TACCA:T | donor_loss | 1.0000 |
| 4:67854066:A:AC | donor_gain | 1.0000 |
| 4:67854066:A:T | donor_loss | 1.0000 |
| 4:67854066:AC:A | donor_gain | 1.0000 |
| 4:67854067:C:CA | donor_gain | 1.0000 |
| 4:67854067:CC:C | donor_gain | 1.0000 |
| 4:67854067:CCA:C | donor_gain | 1.0000 |
| 4:67854067:CCAG:C | donor_gain | 1.0000 |
| 4:67854067:CCAGA:C | donor_gain | 1.0000 |
| 4:67854182:TTGAT:T | acceptor_gain | 1.0000 |
| 4:67854183:TGAT:T | acceptor_gain | 1.0000 |
AlphaMissense
2728 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:67827280:C:A | W311C | 0.996 |
| 4:67827280:C:G | W311C | 0.996 |
| 4:67825817:C:G | C337S | 0.995 |
| 4:67825818:A:T | C337S | 0.995 |
| 4:67827393:C:G | A274P | 0.992 |
| 4:67827398:T:A | D272V | 0.992 |
| 4:67827398:T:G | D272A | 0.992 |
| 4:67822430:G:C | S388R | 0.991 |
| 4:67822430:G:T | S388R | 0.991 |
| 4:67822432:T:G | S388R | 0.991 |
| 4:67833296:C:A | W200C | 0.991 |
| 4:67833296:C:G | W200C | 0.991 |
| 4:67822361:C:A | W411C | 0.990 |
| 4:67822361:C:G | W411C | 0.990 |
| 4:67822427:C:A | W389C | 0.990 |
| 4:67822427:C:G | W389C | 0.990 |
| 4:67825769:C:G | C353S | 0.990 |
| 4:67825770:A:T | C353S | 0.990 |
| 4:67825817:C:T | C337Y | 0.989 |
| 4:67833212:G:C | C228W | 0.989 |
| 4:67822441:C:A | G385W | 0.988 |
| 4:67827282:A:G | W311R | 0.988 |
| 4:67827282:A:T | W311R | 0.988 |
| 4:67827392:G:T | A274E | 0.988 |
| 4:67827399:C:G | D272H | 0.988 |
| 4:67822416:C:G | C393S | 0.987 |
| 4:67822417:A:T | C393S | 0.987 |
| 4:67827397:G:C | D272E | 0.987 |
| 4:67827397:G:T | D272E | 0.987 |
| 4:67833298:A:G | W200R | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000046730 (4:67857518 G>A), RS1000047283 (4:67827922 T>C), RS1000124363 (4:67870417 A>G), RS1000134446 (4:67844073 T>C,G), RS1000144675 (4:67857032 G>A,C), RS1000179697 (4:67879454 A>C), RS1000242477 (4:67870611 G>A), RS1000262535 (4:67824092 G>T), RS1000276158 (4:67864201 C>A), RS1000284528 (4:67838544 G>A), RS1000329712 (4:67876761 T>C), RS1000393069 (4:67880980 G>A), RS1000440029 (4:67844404 A>G), RS10004555 (4:67867295 C>T), RS1000518427 (4:67851654 C>T)
Disease associations
OMIM: gene MIM:605369 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004068_32 | Venous thromboembolism adjusted for sickle cell variant rs77121243-T | 9.000000e-07 |
| GCST006921_13 | Regular attendance at a pub or social club | 7.000000e-09 |
| GCST009391_1284 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009592 | social interaction measurement |
| EFO:0009792 | valine measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1795138 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — S1: Chymotrypsin
Most potent curated ligand interactions (2 total), top 2:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| inhibitor 1 [Colombo et al., 2012] | Inhibition | 8.08 | pKi |
| compound 5 [PMID: 21741839] | Inhibition | 7.72 | pKi |
ChEMBL bioactivities
56 potent at pChembl≥5 of 62 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
PubChem BioAssay actives
44 with measured affinity, of 59 total; 44 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (2S)-2-[[(2S)-2-amino-5-(diaminomethylideneamino)pentanoyl]amino]-N-[(2S)-1-[[(2S)-1-(1,3-benzothiazol-2-yl)-5-(diaminomethylideneamino)-1-oxopentan-2-yl]amino]-1-oxopropan-2-yl]pentanediamide | 682987: Tight binding inhibition of human TMPRSS11D expressed in Drosophila melanogaster S2 cells using Boc-QAR-AMC as substrate incubated for 15 mins prior to substrate addition measured for 30 mins by fluorimetric analysis | ki | 0.0084 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-6-(diaminomethylideneamino)hexanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0130 | uM |
| 4-[[[(5R)-5-(benzylsulfonylamino)-8-(diaminomethylideneamino)-4-oxooctan-3-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0140 | uM |
| 4-[[[(4S,6R)-6-(benzylsulfonylamino)-9-(diaminomethylideneamino)-5-oxononan-4-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0150 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-5-oxo-5-(4-pyrimidin-2-ylpiperazin-1-yl)pentanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0170 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-5-(diaminomethylideneamino)pentanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0190 | uM |
| 4-[[[(3S,5R)-5-(benzylsulfonylamino)-8-(diaminomethylideneamino)-2-methyl-4-oxooctan-3-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0220 | uM |
| 4-[[[(3S,4S,6R)-6-(benzylsulfonylamino)-9-(diaminomethylideneamino)-3-methyl-5-oxononan-4-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0230 | uM |
| 4-[[[(2S,4R)-4-(benzylsulfonylamino)-7-(diaminomethylideneamino)-3-oxoheptan-2-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0300 | uM |
| benzyl N-[(5S,7R)-7-(benzylsulfonylamino)-5-[(4-carbamimidoylphenyl)methylamino]-10-(diaminomethylideneamino)-6-oxodecyl]carbamate | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0340 | uM |
| 4-[[[(2S,4R)-4-(benzylsulfonylamino)-7-(diaminomethylideneamino)-1-hydroxy-3-oxoheptan-2-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0340 | uM |
| tert-butyl (4R)-4-(benzylsulfonylamino)-5-[(2S)-2-[(4-carbamimidoylphenyl)methylcarbamoyl]pyrrolidin-1-yl]-5-oxopentanoate | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0360 | uM |
| tert-butyl (3R)-3-(benzylsulfonylamino)-4-[(2S)-2-[(4-carbamimidoylphenyl)methylcarbamoyl]pyrrolidin-1-yl]-4-oxobutanoate | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0380 | uM |
| benzyl 4-[(4R)-4-(benzylsulfonylamino)-5-[(2S)-2-[(4-carbamimidoylphenyl)methylcarbamoyl]pyrrolidin-1-yl]-5-oxopentanoyl]piperazine-1-carboxylate | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0380 | uM |
| (2S)-1-[(2R)-6-amino-2-(benzylsulfonylamino)hexanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0400 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-oxo-4-(4-pyrimidin-2-ylpiperazin-1-yl)butanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0430 | uM |
| 4-[[[(4S,6R)-6-(benzylsulfonylamino)-9-(diaminomethylideneamino)-2-methyl-5-oxononan-4-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0470 | uM |
| benzyl N-[(5S)-5-[[(2R)-2-(benzylsulfonylamino)-3-hydroxypropanoyl]amino]-6-[(4-carbamimidoylphenyl)methylamino]-6-oxohexyl]carbamate | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0510 | uM |
| benzyl N-[(5R)-5-(benzylsulfonylamino)-6-[(2S)-2-[(4-carbamimidoylphenyl)methylcarbamoyl]pyrrolidin-1-yl]-6-oxohexyl]carbamate | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0530 | uM |
| (2S)-2-[[(2S)-2-[[(2S)-5-amino-2-[[(2S)-2-[(2-aminobenzoyl)amino]-5-(diaminomethylideneamino)pentanoyl]amino]-5-oxopentanoyl]amino]-3-carboxypropanoyl]amino]-5-(diaminomethylideneamino)pentanoic acid | 497562: Inhibition of human HAT by FRET assay | ki | 0.0543 | uM |
| 4-[[[(2S,4R)-4-(benzylsulfonylamino)-7-(diaminomethylideneamino)-3-oxo-1-phenylheptan-2-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0570 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-phenylbutanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0630 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-5-oxo-5-piperazin-1-ylpentanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0680 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-[4-(2,5-dimethylphenyl)piperazin-1-yl]-4-oxobutanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0730 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-3-methylbutanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0760 | uM |
| (2S)-2-[[(2R)-2-(benzylsulfonylamino)-3-hydroxypropanoyl]amino]-N-[(4-carbamimidoylphenyl)methyl]-3-hydroxypropanamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0780 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-3-phenylpropanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.0980 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-3-cyclohexylpropanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.1080 | uM |
| (2S)-6-amino-2-[[(2S)-2-[[(2S)-5-amino-2-[[(2S)-2-[(2-aminobenzoyl)amino]-5-(diaminomethylideneamino)pentanoyl]amino]-5-oxopentanoyl]amino]-3-carboxypropanoyl]amino]hexanoic acid | 497562: Inhibition of human HAT by FRET assay | ki | 0.1123 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-methylpentanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.1200 | uM |
| benzyl 4-[(3R)-3-(benzylsulfonylamino)-4-[(2S)-2-[(4-carbamimidoylphenyl)methylcarbamoyl]pyrrolidin-1-yl]-4-oxobutanoyl]piperazine-1-carboxylate | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.1350 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-[4-[3-(dimethylamino)propyl]piperazin-1-yl]-4-oxobutanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.1490 | uM |
| (2S)-1-[(2R)-4-(4-benzylpiperazin-1-yl)-2-(benzylsulfonylamino)-4-oxobutanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.1580 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-3-(4-carbamimidoylphenyl)propanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.1680 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-morpholin-4-yl-4-oxobutanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.1830 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-oxo-4-piperazin-1-ylbutanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.2020 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-[4-(2-hydroxyethyl)piperazin-1-yl]-4-oxobutanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.2100 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-4-oxo-4-(4-propan-2-ylpiperazin-1-yl)butanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.2210 | uM |
| (2S)-1-[(2R)-2-(benzylsulfonylamino)-3-(4-cyanophenyl)propanoyl]-N-[(4-carbamimidoylphenyl)methyl]pyrrolidine-2-carboxamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.3110 | uM |
| (3S,5R)-5-(benzylsulfonylamino)-3-[(4-carbamimidoylphenyl)methylamino]-8-(diaminomethylideneamino)-4-oxooctanoic acid | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.4220 | uM |
| (2R)-2-(benzylsulfonylamino)-N-[2-[(4-carbamimidoylphenyl)methylamino]-2-oxoethyl]-5-(diaminomethylideneamino)pentanamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.4300 | uM |
| 4-[[[(4S,6R)-6-(benzylsulfonylamino)-1,9-bis(diaminomethylideneamino)-5-oxononan-4-yl]amino]methyl]benzenecarboximidamide | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.4570 | uM |
| tert-butyl (3S,5R)-5-(benzylsulfonylamino)-3-[(4-carbamimidoylphenyl)methylamino]-8-(diaminomethylideneamino)-4-oxooctanoate | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 0.5120 | uM |
| (3R)-3-(benzylsulfonylamino)-4-[(2S)-2-[(4-carbamimidoylphenyl)methylcarbamoyl]pyrrolidin-1-yl]-4-oxobutanoic acid | 610094: Inhibition of human recombinant airway trypsin-like protease HAT using D-cyclohexylalanine-Pro-Arg-AMC as substrate by fluorescence plate reader analysis | ki | 1.4250 | uM |
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Asbestos, Crocidolite | decreases methylation, increases expression | 2 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| benzylsulfonylargininyl-proline-(4-amidinobenzyl)amide | decreases activity | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Ozone | increases secretion | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
10 unique, capped per target: 10 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1219945 | Binding | Activity at human HAT by FRET assay | Substrate specificity and inhibitory study of human airway trypsin-like protease. — Bioorg Med Chem |
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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): venous thromboembolism