TRAPPC6A
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Also known as TRS33MGC2650HSPC289
Summary
TRAPPC6A (trafficking protein particle complex subunit 6A, HGNC:23069) is a protein-coding gene on chromosome 19q13.32, encoding Trafficking protein particle complex subunit 6A (O75865). May play a role in vesicular transport during the biogenesis of melanosomes.
This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 79090 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 9
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_001270891
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23069 |
| Approved symbol | TRAPPC6A |
| Name | trafficking protein particle complex subunit 6A |
| Location | 19q13.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRS33, MGC2650, HSPC289 |
| Ensembl gene | ENSG00000007255 |
| Ensembl biotype | protein_coding |
| OMIM | 610396 |
| Entrez | 79090 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron
ENST00000006275, ENST00000585934, ENST00000587818, ENST00000588062, ENST00000592647, ENST00000879979, ENST00000940426, ENST00000940427, ENST00000940428
RefSeq mRNA: 4 — MANE Select: NM_001270891
NM_001270891, NM_001270892, NM_001270893, NM_024108
CCDS: CCDS12655, CCDS59395, CCDS59396, CCDS59397
Canonical transcript exons
ENST00000585934 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002865685 | 45178135 | 45178237 |
| ENSE00002900972 | 45162933 | 45163223 |
| ENSE00003491197 | 45164853 | 45164970 |
| ENSE00003500714 | 45165127 | 45165194 |
| ENSE00003512065 | 45164164 | 45164247 |
| ENSE00003666601 | 45163916 | 45164009 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 95.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9957 / max 125.1835, expressed in 1667 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181445 | 5.4785 | 1574 |
| 181444 | 1.5173 | 763 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 95.20 | gold quality |
| granulocyte | CL:0000094 | 94.13 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.86 | gold quality |
| endometrium epithelium | UBERON:0004811 | 93.44 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.36 | gold quality |
| skin of leg | UBERON:0001511 | 93.27 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.21 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.16 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.31 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.23 | gold quality |
| zone of skin | UBERON:0000014 | 91.98 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.85 | gold quality |
| spleen | UBERON:0002106 | 91.65 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.58 | gold quality |
| spinal cord | UBERON:0002240 | 91.54 | gold quality |
| monocyte | CL:0000576 | 91.24 | gold quality |
| leukocyte | CL:0000738 | 91.21 | gold quality |
| mononuclear cell | CL:0000842 | 91.14 | gold quality |
| thyroid gland | UBERON:0002046 | 91.07 | gold quality |
| transverse colon | UBERON:0001157 | 90.97 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 90.96 | gold quality |
| apex of heart | UBERON:0002098 | 90.55 | gold quality |
| body of stomach | UBERON:0001161 | 90.51 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.18 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.12 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.01 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.92 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.81 | gold quality |
| putamen | UBERON:0001874 | 89.73 | gold quality |
| mucosa of stomach | UBERON:0001199 | 89.35 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.35 |
| E-MTAB-7606 | no | 1246.56 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF
miRNA regulators (miRDB)
8 targeting TRAPPC6A, 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-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-4324 | 99.04 | 70.14 | 1569 |
| HSA-MIR-7973 | 96.48 | 65.54 | 502 |
| HSA-MIR-6846-3P | 94.80 | 65.19 | 389 |
Literature-anchored findings (GeneRIF, showing 3)
- Mapping and characterization of mouse Trappc6a, along with a description of the human homolog. (PMID:16697553)
- Host cellular protein TRAPPC6ADelta interacts with influenza A virus M2 protein and regulates viral propagation by modulating M2 trafficking. (PMID:27795429)
- Missense mutation in TRAPPC6A identified in patients with a neurodevelopmental syndrome, affects stability of the TRAPP complex. (PMID:29391579)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trappc6bl | ENSDARG00000033171 |
| mus_musculus | Trappc6a | ENSMUSG00000002043 |
| rattus_norvegicus | Trappc6a | ENSRNOG00000017468 |
| drosophila_melanogaster | Trs33 | FBGN0266722 |
| caenorhabditis_elegans | WBGENE00010699 |
Paralogs (1): TRAPPC6B (ENSG00000182400)
Protein
Protein identifiers
Trafficking protein particle complex subunit 6A — O75865 (reviewed: O75865)
All UniProt accessions (2): O75865, B7TZ90
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in vesicular transport during the biogenesis of melanosomes.
Subunit / interactions. Part of the multisubunit transport protein particle (TRAPP) complex. Heterodimer with TRAPPC3. The heterodimer TRAPPC3-TRAPPC6A interacts with TRAPPC2L. Interacts with TRAPPC2L.
Subcellular location. Golgi apparatus. cis-Golgi network. Endoplasmic reticulum.
Similarity. Belongs to the TRAPP small subunits family. BET3 subfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75865-1 | 1 | yes |
| O75865-2 | 2 | |
| O75865-3 | 3 | |
| O75865-4 | 4 |
RefSeq proteins (4): NP_001257820, NP_001257821, NP_001257822, NP_077013 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007194 | TRAPP_component | Family |
| IPR024096 | NO_sig/Golgi_transp_ligand-bd | Homologous_superfamily |
| IPR037992 | TRAPPC6/Trs33 | Family |
Pfam: PF04051
UniProt features (21 total): helix 10, strand 4, splice variant 3, chain 1, modified residue 1, turn 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2C0J | X-RAY DIFFRACTION | 2.2 |
| 2J3T | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75865-F1 | 90.51 | 0.71 |
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): 33
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
MSigDB gene sets: 150 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, JI_RESPONSE_TO_FSH_UP, GOBP_VESICLE_LOCALIZATION, GOBP_VESICLE_ORGANIZATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, MODULE_16, BROWNE_HCMV_INFECTION_48HR_DN, GOCC_TRANS_GOLGI_NETWORK, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, DELYS_THYROID_CANCER_DN, MODULE_88, BASAKI_YBX1_TARGETS_DN
GO Biological Process (6): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), COPII vesicle coat assembly (GO:0048208), obsolete vesicle tethering (GO:0099022), vesicle-mediated transport (GO:0016192), regulation of GTPase activity (GO:0043087), Golgi vesicle transport (GO:0048193)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cis-Golgi network (GO:0005801), trans-Golgi network (GO:0005802), cytosol (GO:0005829), TRAPP complex (GO:0030008), TRAPPIII protein complex (GO:1990072), Golgi apparatus (GO:0005794)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 1 |
| Rab regulation of trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| intracellular membrane-bounded organelle | 3 |
| cellular anatomical structure | 2 |
| endomembrane system | 2 |
| Golgi apparatus | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| vesicle coat assembly | 1 |
| protein-containing complex assembly | 1 |
| COPII-coated vesicle budding | 1 |
| transport | 1 |
| cellular process | 1 |
| GTPase activity | 1 |
| regulation of hydrolase activity | 1 |
| vesicle-mediated transport | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| Golgi apparatus subcompartment | 1 |
| vesicle tethering complex | 1 |
| intracellular protein-containing complex | 1 |
| TRAPP complex | 1 |
Protein interactions and networks
STRING
768 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRAPPC6A | TRAPPC5 | Q8IUR0 | 998 |
| TRAPPC6A | TRAPPC4 | Q9Y296 | 998 |
| TRAPPC6A | TRAPPC1 | Q9Y5R8 | 998 |
| TRAPPC6A | TRAPPC2 | P0DI81 | 997 |
| TRAPPC6A | TRAPPC3 | O43617 | 996 |
| TRAPPC6A | TRAPPC8 | Q9Y2L5 | 966 |
| TRAPPC6A | TRAPPC9 | Q96Q05 | 898 |
| TRAPPC6A | TRAPPC10 | P48553 | 882 |
| TRAPPC6A | TRAPPC12 | Q8WVT3 | 727 |
| TRAPPC6A | TRAPPC2L | Q9UL33 | 725 |
| TRAPPC6A | TRAPPC11 | Q7Z392 | 710 |
| TRAPPC6A | RAB1A | P11476 | 706 |
| TRAPPC6A | TRAPPC13 | A5PLN9 | 680 |
| TRAPPC6A | MYO18A | O95411 | 579 |
| TRAPPC6A | USO1 | O60763 | 545 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRAPPC6A | TRAPPC3 | psi-mi:“MI:0915”(physical association) | 0.850 |
| TRAPPC3 | TRAPPC6A | psi-mi:“MI:0915”(physical association) | 0.850 |
| TRAPPC6A | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.850 |
| RAB3IP | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.700 |
| RAB3IP | TRAPPC6A | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRAPPC6A | Hoxa1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| Hoxa1 | TRAPPC6A | psi-mi:“MI:0915”(physical association) | 0.570 |
| TRAPPC6A | ZMIZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IKZF3 | TRAPPC6A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAPPC6A | HEL-S-101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMIZ2 | TRAPPC6A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAPPC6A | IKZF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAPPC2L | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.560 |
| TRAPPC6A | Trappc3 | psi-mi:“MI:0915”(physical association) | 0.540 |
| TRAPPC6A | Trappc3 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
BioGRID (82): TRAPPC6A (Two-hybrid), TRAPPC6A (Two-hybrid), TRAPPC6A (Two-hybrid), ZMIZ2 (Two-hybrid), RAB3IP (Two-hybrid), TRAPPC6A (Affinity Capture-MS), TRAPPC6A (Two-hybrid), TRAPPC6A (Two-hybrid), TRAPPC6A (Two-hybrid), TRAPPC6A (Two-hybrid), TRAPPC6A (Two-hybrid), TRAPPC6A (PCA), Hoxa1 (Affinity Capture-Western), TRAPPC6A (Affinity Capture-MS), TRAPPC6A (Affinity Capture-MS)
ESM2 similar proteins: B4S3A5, F1QMV3, O01757, O08700, O75865, P06814, P08096, P15847, P30182, P34605, P36149, P41810, P87078, P87303, P97390, Q01879, Q09191, Q09805, Q22307, Q24179, Q2M197, Q32L78, Q3T086, Q54GE3, Q54YG5, Q5F3Z1, Q61IU9, Q6AX60, Q6BIJ0, Q6BZX4, Q6GME1, Q6PEI7, Q7KQM2, Q86K94, Q86SZ2, Q94KJ7, Q9BMM1, Q9BMX3, Q9D289, Q9EQP2
Diamond homologs: F1QMV3, O75865, Q09784, Q32L78, Q3T086, Q78XR0, Q86SZ2, Q99394, Q9D289
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TRAPPC6A | “form complex” | “TRAPP III complex, TRAPPC2 variant” | binding |
| TRAPPC6A | “form complex” | “TRAPP III complex, TRAPPC2B variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 21 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 |
|---|---|---|---|
| RAB GEFs exchange GTP for GDP on RABs | 7 | 79.0× | 6e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle tethering | 6 | 396.5× | 1e-13 |
| COPII vesicle coat assembly | 5 | 234.1× | 2e-10 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 6 | 54.4× | 1e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 7 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1186 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:45163914:A:AC | donor_gain | 1.0000 |
| 19:45163915:C:CC | donor_gain | 1.0000 |
| 19:45163915:CAGA:C | donor_gain | 1.0000 |
| 19:45164158:CCATA:C | donor_loss | 1.0000 |
| 19:45164159:CATA:C | donor_loss | 1.0000 |
| 19:45164160:ATACC:A | donor_loss | 1.0000 |
| 19:45164161:TAC:T | donor_loss | 1.0000 |
| 19:45164174:T:TA | donor_gain | 1.0000 |
| 19:45164245:CCC:C | acceptor_gain | 1.0000 |
| 19:45164246:CC:C | acceptor_gain | 1.0000 |
| 19:45164246:CCC:C | acceptor_gain | 1.0000 |
| 19:45164247:CC:C | acceptor_gain | 1.0000 |
| 19:45164248:C:CC | acceptor_gain | 1.0000 |
| 19:45164249:T:G | acceptor_loss | 1.0000 |
| 19:45164847:TCCCA:T | donor_loss | 1.0000 |
| 19:45164848:CCCAC:C | donor_loss | 1.0000 |
| 19:45164849:CCAC:C | donor_loss | 1.0000 |
| 19:45164850:CACCT:C | donor_loss | 1.0000 |
| 19:45164005:AGGAA:A | acceptor_gain | 0.9900 |
| 19:45164006:GGAA:G | acceptor_gain | 0.9900 |
| 19:45164007:GAA:G | acceptor_gain | 0.9900 |
| 19:45164008:AACTG:A | acceptor_loss | 0.9900 |
| 19:45164009:AC:A | acceptor_loss | 0.9900 |
| 19:45164010:C:CA | acceptor_loss | 0.9900 |
| 19:45164010:C:CC | acceptor_gain | 0.9900 |
| 19:45164011:T:A | acceptor_loss | 0.9900 |
| 19:45164243:GTCCC:G | acceptor_gain | 0.9900 |
| 19:45164244:TCCC:T | acceptor_gain | 0.9900 |
| 19:45164245:CCCC:C | acceptor_gain | 0.9900 |
| 19:45164248:C:T | acceptor_gain | 0.9900 |
AlphaMissense
1031 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:45164889:G:C | F78L | 0.962 |
| 19:45164889:G:T | F78L | 0.962 |
| 19:45164891:A:G | F78L | 0.962 |
| 19:45163216:G:C | F152L | 0.957 |
| 19:45163216:G:T | F152L | 0.957 |
| 19:45163218:A:G | F152L | 0.957 |
| 19:45165145:C:T | G45D | 0.948 |
| 19:45165158:C:G | G41R | 0.948 |
| 19:45165158:C:T | G41R | 0.948 |
| 19:45165158:C:A | G41W | 0.946 |
| 19:45163978:C:T | G129D | 0.940 |
| 19:45163217:A:G | F152S | 0.939 |
| 19:45164903:A:G | W74R | 0.936 |
| 19:45164903:A:T | W74R | 0.936 |
| 19:45165157:C:T | G41E | 0.931 |
| 19:45163945:A:T | V140D | 0.922 |
| 19:45164241:A:C | Y93D | 0.913 |
| 19:45164919:G:C | F68L | 0.909 |
| 19:45164919:G:T | F68L | 0.909 |
| 19:45164921:A:G | F68L | 0.909 |
| 19:45163979:C:G | G129R | 0.906 |
| 19:45164229:C:G | D97H | 0.906 |
| 19:45164922:C:A | K67N | 0.903 |
| 19:45164922:C:G | K67N | 0.903 |
| 19:45163990:C:T | G125D | 0.902 |
| 19:45163950:G:C | S138R | 0.900 |
| 19:45163950:G:T | S138R | 0.900 |
| 19:45163952:T:G | S138R | 0.900 |
| 19:45164234:A:G | L95P | 0.896 |
| 19:45164007:G:C | F119L | 0.894 |
dbSNP variants (sampled 300 via entrez): RS1000026742 (19:45176420 C>A,T), RS1000246675 (19:45169755 C>G), RS1000673141 (19:45166619 C>T), RS1000749091 (19:45164952 C>T), RS1000783180 (19:45162439 C>A), RS1000832464 (19:45170899 C>T), RS1000897317 (19:45169451 T>A), RS1000978718 (19:45177271 G>A), RS1000988871 (19:45169183 C>T), RS1001011526 (19:45177547 T>C), RS1001013859 (19:45175348 A>C), RS1001213936 (19:45162589 C>G), RS1001277038 (19:45169267 G>A), RS1001284484 (19:45164735 G>A,T), RS1001470167 (19:45174846 C>A,T)
Disease associations
OMIM: gene MIM:610396 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (2): neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000337_21 | Quantitative traits | 2.000000e-06 |
| GCST000337_22 | Quantitative traits | 4.000000e-07 |
| GCST004069_16 | Cerebrospinal fluid AB1-42 levels | 6.000000e-10 |
| GCST007827_13 | Alzheimer’s disease or HDL levels (pleiotropy) | 7.000000e-22 |
| GCST007827_3 | Alzheimer’s disease or HDL levels (pleiotropy) | 1.000000e-97 |
| GCST007827_8 | Alzheimer’s disease or HDL levels (pleiotropy) | 3.000000e-36 |
| GCST009496_21 | Alzheimer’s disease (onset between ages 58 and 79) | 8.000000e-09 |
| GCST011351_22 | Aspartate aminotransferase levels | 1.000000e-10 |
| GCST011352_12 | Alanine aminotransferase levels | 2.000000e-42 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
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
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 3 |
| bisphenol A | increases expression, affects cotreatment | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Rotenone | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| afuresertib | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| cyfluthrin | decreases expression, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects 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 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Aspirin | increases expression | 1 |
Clinical trials (associated diseases)
204 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 |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| 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 |
Related Atlas pages
- Associated diseases: complex 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