B3GAT2
gene geneOn this page
Also known as GlcAT-S
Summary
B3GAT2 (beta-1,3-glucuronyltransferase 2, HGNC:922) is a protein-coding gene on chromosome 6q13, encoding Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 (Q9NPZ5). Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins.
The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system.
Source: NCBI Gene 135152 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 102 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_080742
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:922 |
| Approved symbol | B3GAT2 |
| Name | beta-1,3-glucuronyltransferase 2 |
| Location | 6q13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GlcAT-S |
| Ensembl gene | ENSG00000112309 |
| Ensembl biotype | protein_coding |
| OMIM | 607497 |
| Entrez | 135152 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000230053, ENST00000615536
RefSeq mRNA: 1 — MANE Select: NM_080742
NM_080742
CCDS: CCDS4974
Canonical transcript exons
ENST00000230053 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000758544 | 70861830 | 70861978 |
| ENSE00003992269 | 70856679 | 70861749 |
| ENSE00003992279 | 70955839 | 70957060 |
| ENSE00003992289 | 70894128 | 70894272 |
Expression profiles
Bgee: expression breadth ubiquitous, 207 present calls, max score 96.01.
FANTOM5 (CAGE): breadth broad, TPM avg 1.4700 / max 95.4153, expressed in 196 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74322 | 0.5765 | 95 |
| 74323 | 0.1852 | 80 |
| 74319 | 0.1842 | 96 |
| 74317 | 0.1536 | 78 |
| 74318 | 0.1282 | 74 |
| 74316 | 0.0824 | 50 |
| 74321 | 0.0744 | 53 |
| 74324 | 0.0463 | 31 |
| 74320 | 0.0240 | 12 |
| 74315 | 0.0152 | 5 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 96.01 | gold quality |
| entorhinal cortex | UBERON:0002728 | 92.65 | gold quality |
| embryo | UBERON:0000922 | 92.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.48 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.63 | gold quality |
| pons | UBERON:0000988 | 91.52 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 89.56 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.64 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.20 | gold quality |
| endothelial cell | CL:0000115 | 87.07 | gold quality |
| corpus callosum | UBERON:0002336 | 86.74 | gold quality |
| parietal lobe | UBERON:0001872 | 86.43 | gold quality |
| secondary oocyte | CL:0000655 | 86.41 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 85.81 | gold quality |
| oocyte | CL:0000023 | 85.55 | gold quality |
| medulla oblongata | UBERON:0001896 | 85.46 | gold quality |
| temporal lobe | UBERON:0001871 | 85.32 | gold quality |
| hypothalamus | UBERON:0001898 | 85.20 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.36 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 84.34 | gold quality |
| spinal cord | UBERON:0002240 | 83.32 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 82.96 | gold quality |
| midbrain | UBERON:0001891 | 82.62 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 82.52 | gold quality |
| substantia nigra | UBERON:0002038 | 82.49 | gold quality |
| amygdala | UBERON:0001876 | 82.21 | gold quality |
| ventral tegmental area | UBERON:0002691 | 81.97 | gold quality |
| cerebral cortex | UBERON:0000956 | 81.63 | gold quality |
| medial globus pallidus | UBERON:0002477 | 81.45 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.19 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 5.84 |
| E-MTAB-6386 | no | 29.78 |
| E-ANND-3 | no | 3.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting B3GAT2, 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-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-141-5P | 99.57 | 67.86 | 897 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-21-5P | 99.46 | 70.54 | 1035 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-590-5P | 99.25 | 70.76 | 930 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-4718 | 98.55 | 68.61 | 814 |
| HSA-MIR-548AO-5P | 98.55 | 69.57 | 1362 |
| HSA-MIR-548AX | 98.55 | 69.58 | 1362 |
| HSA-MIR-1245B-3P | 98.01 | 68.91 | 1387 |
| HSA-MIR-219B-5P | 97.91 | 65.80 | 531 |
| HSA-MIR-5196-3P | 97.57 | 65.98 | 979 |
| HSA-MIR-5579-3P | 97.00 | 68.81 | 1111 |
| HSA-MIR-4732-5P | 90.07 | 64.77 | 412 |
Literature-anchored findings (GeneRIF, showing 5)
- human GlcAT-S gene-located on human chromosome 6 encodes a protein involved in biosynthesis of HNK-1 carbohydrate epitope on glycoproteins. (PMID:12522689)
- Residues interacting with UDP molecule, which is a part of the donor substrate, are highly conserved between GlcAT-P and GlcAT-S (PMID:16897771)
- results suggest that effects on biosynthesis of the neuronal epitope HNK-1, through common B3GAT2 variation, could increase the risk of SCZ, possibly by decreasing cortical area. (PMID:20950796)
- B3GAT2 and ZNF793 are hypermethylated in BE, and the methylation status of these genes can be used to detect BE in tissue samples. (PMID:26545406)
- The study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric venous thromboembolism. (PMID:28011674)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | b3gat2 | ENSDARG00000030733 |
| mus_musculus | B3gat2 | ENSMUSG00000026156 |
| rattus_norvegicus | B3gat2 | ENSRNOG00000046852 |
| caenorhabditis_elegans | glct-4 | WBGENE00008160 |
| caenorhabditis_elegans | glct-5 | WBGENE00008293 |
| caenorhabditis_elegans | glct-2 | WBGENE00008479 |
| caenorhabditis_elegans | glct-1 | WBGENE00011650 |
| caenorhabditis_elegans | glct-3 | WBGENE00011781 |
| caenorhabditis_elegans | WBGENE00019546 |
Paralogs (2): B3GAT1 (ENSG00000109956), B3GAT3 (ENSG00000149541)
Protein
Protein identifiers
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 — Q9NPZ5 (reviewed: Q9NPZ5)
Alternative names: Beta-1,3-glucuronyltransferase 2, GlcAT-D, UDP-glucuronosyltransferase S
All UniProt accessions (2): Q9NPZ5, A0A087WXU9
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins.
Subunit / interactions. Homodimer.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 43 family.
RefSeq proteins (1): NP_542780* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005027 | Glyco_trans_43 | Family |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
Pfam: PF03360
Catalyzed reactions (Rhea), 1 shown:
- 3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP + H(+) (RHEA:24168)
UniProt features (40 total): strand 12, helix 10, binding site 7, topological domain 2, site 2, glycosylation site 2, region of interest 2, chain 1, transmembrane region 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2D0J | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NPZ5-F1 | 85.88 | 0.68 |
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): 218 (interaction with galactose moiety of substrate glycoprotein); 310 (interaction with galactose moiety of substrate glycoprotein); 273 (proton donor/acceptor)
Ligand- & substrate-binding residues (7): 160; 185–187; 187; 300–302; 87–89; 118; 155
Glycosylation sites (2): 67, 292
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-1971475 | Glycosaminoglycan-protein linkage region biosynthesis |
| R-HSA-1430728 | Metabolism |
| R-HSA-1630316 | Glycosaminoglycan metabolism |
| R-HSA-1638091 | Heparan sulfate/heparin (HS-GAG) metabolism |
| R-HSA-1793185 | Chondroitin sulfate/dermatan sulfate metabolism |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
MSigDB gene sets: 57 (showing top):
GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_GLUCURONOSYLTRANSFERASE_ACTIVITY, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY, KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, GOBP_GLYCOPROTEIN_BIOSYNTHETIC_PROCESS
GO Biological Process (4): carbohydrate metabolic process (GO:0005975), carbohydrate biosynthetic process (GO:0016051), chondroitin sulfate proteoglycan biosynthetic process (GO:0050650), obsolete protein glycosylation (GO:0006486)
GO Molecular Function (3): galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018), metal ion binding (GO:0046872), transferase activity (GO:0016740)
GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Glycosaminoglycan metabolism | 3 |
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| primary metabolic process | 1 |
| carbohydrate metabolic process | 1 |
| biosynthetic process | 1 |
| proteoglycan biosynthetic process | 1 |
| chondroitin sulfate proteoglycan metabolic process | 1 |
| protein O-linked glycosylation via xylose | 1 |
| glucuronosyltransferase activity | 1 |
| cation binding | 1 |
| catalytic activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
960 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| B3GAT2 | UGT2B7 | P16662 | 914 |
| B3GAT2 | CYP1A2 | P05177 | 886 |
| B3GAT2 | CYP2E1 | P05181 | 886 |
| B3GAT2 | SLC35A2 | P78381 | 886 |
| B3GAT2 | UGT1A6 | P19224 | 880 |
| B3GAT2 | UGT2B15 | P23765 | 877 |
| B3GAT2 | UGT1A4 | P22310 | 876 |
| B3GAT2 | UGT1A10 | Q9HAW8 | 852 |
| B3GAT2 | CYP3A4 | P05184 | 834 |
| B3GAT2 | CYP2C19 | P33259 | 833 |
| B3GAT2 | UGT1A8 | Q9HAW9 | 833 |
| B3GAT2 | UGT1A7 | Q9HAW7 | 830 |
| B3GAT2 | UGT2B17 | O75795 | 827 |
| B3GAT2 | UGT1A1 | P22309 | 819 |
| B3GAT2 | UGT2B28 | Q9BY64 | 815 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| B3GAT2 | SEPTIN9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| B3GAT2 | FAM20B | psi-mi:“MI:0914”(association) | 0.350 |
| B3GAT2 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (18): SEPT9 (Proximity Label-MS), FHL2 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), RMND1 (Affinity Capture-MS), SEPN1 (Affinity Capture-MS), CACNA2D2 (Affinity Capture-MS), ITGA7 (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FRAS1 (Affinity Capture-MS), CLSTN3 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), ASIC1 (Affinity Capture-MS), LRP6 (Affinity Capture-MS)
ESM2 similar proteins: A0A0P0WL81, A2X933, A2XFT5, A2XFT6, A2ZAX5, A2ZF66, A2ZHL0, A2ZI32, B8AIZ4, B9FCV3, B9FKP6, C7J0P3, O35789, P45895, P59270, Q0D3C8, Q0E1Z0, Q10MK2, Q10MX2, Q10N05, Q2QXP0, Q2QYF3, Q2R2W8, Q2RB59, Q53JI9, Q5CAZ6, Q5CB03, Q5CB04, Q5D0W8, Q5QM25, Q5Z980, Q653F4, Q67V61, Q69XK5, Q6AT32, Q6Z3Y6, Q6Z5M3, Q75HA6, Q7XTB2, Q8GZ81
Diamond homologs: O35789, O94766, O97422, P58158, P59270, Q09363, Q10N05, Q5CAZ6, Q5CB03, Q5CB04, Q5QM25, Q5ZCC5, Q653F4, Q6AT32, Q7XTB2, Q8L707, Q8S626, Q9CW73, Q9NPZ5, Q9P2W7, Q9SXC4, Q9VLA1, Q9VTG7, Q9WU47, Q9Z137, Q9FH90, Q6Z3Y6, Q75L84, Q9ZQC6, B9FCV3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
102 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 86 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1710926 | GRCh37/hg19 6q13(chr6:71105038-75200617)x1 | Pathogenic |
| 3391830 | GRCh37/hg19 6q13(chr6:71236776-73908689)x1 | Likely pathogenic |
SpliceAI
1333 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:70856854:CTCAG:C | acceptor_loss | 1.0000 |
| 6:70856856:CAG:C | acceptor_loss | 1.0000 |
| 6:70856857:A:AG | acceptor_gain | 1.0000 |
| 6:70856857:A:AT | acceptor_loss | 1.0000 |
| 6:70856857:AG:A | acceptor_gain | 1.0000 |
| 6:70856857:AGG:A | acceptor_gain | 1.0000 |
| 6:70856858:G:A | acceptor_gain | 1.0000 |
| 6:70856858:G:GG | acceptor_gain | 1.0000 |
| 6:70856858:GGG:G | acceptor_gain | 1.0000 |
| 6:70857004:G:GT | donor_gain | 1.0000 |
| 6:70857026:TCCTG:T | donor_loss | 1.0000 |
| 6:70857029:TGGTA:T | donor_loss | 1.0000 |
| 6:70857030:GGT:G | donor_loss | 1.0000 |
| 6:70857031:GTA:G | donor_loss | 1.0000 |
| 6:70857032:T:G | donor_loss | 1.0000 |
| 6:70861978:CCTT:C | acceptor_gain | 1.0000 |
| 6:70861981:T:TC | acceptor_gain | 1.0000 |
| 6:70894123:CTCA:C | donor_loss | 1.0000 |
| 6:70894125:CA:C | donor_loss | 1.0000 |
| 6:70894126:ACCT:A | donor_loss | 1.0000 |
| 6:70894127:C:CA | donor_loss | 1.0000 |
| 6:70894268:CGCAT:C | acceptor_gain | 1.0000 |
| 6:70894269:GCAT:G | acceptor_gain | 1.0000 |
| 6:70894270:CAT:C | acceptor_gain | 1.0000 |
| 6:70894270:CATC:C | acceptor_gain | 1.0000 |
| 6:70894271:AT:A | acceptor_gain | 1.0000 |
| 6:70894271:ATCT:A | acceptor_loss | 1.0000 |
| 6:70894272:TC:T | acceptor_loss | 1.0000 |
| 6:70894273:C:CC | acceptor_gain | 1.0000 |
| 6:70894273:C:CG | acceptor_loss | 1.0000 |
AlphaMissense
2079 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:70861735:G:C | H300Q | 1.000 |
| 6:70861735:G:T | H300Q | 1.000 |
| 6:70861737:G:C | H300D | 1.000 |
| 6:70861737:G:T | H300N | 1.000 |
| 6:70861738:C:A | W299C | 1.000 |
| 6:70861738:C:G | W299C | 1.000 |
| 6:70861740:A:G | W299R | 1.000 |
| 6:70861740:A:T | W299R | 1.000 |
| 6:70861836:G:C | C293W | 1.000 |
| 6:70861837:C:T | C293Y | 1.000 |
| 6:70861858:A:G | L286P | 1.000 |
| 6:70861885:A:G | L277P | 1.000 |
| 6:70861885:A:T | L277H | 1.000 |
| 6:70861888:A:G | F276S | 1.000 |
| 6:70861896:T:A | E273D | 1.000 |
| 6:70861896:T:G | E273D | 1.000 |
| 6:70861897:T:A | E273V | 1.000 |
| 6:70861899:T:A | Q272H | 1.000 |
| 6:70861899:T:G | Q272H | 1.000 |
| 6:70861929:A:C | F262L | 1.000 |
| 6:70861929:A:T | F262L | 1.000 |
| 6:70861930:A:C | F262C | 1.000 |
| 6:70861930:A:G | F262S | 1.000 |
| 6:70861931:A:G | F262L | 1.000 |
| 6:70861972:G:T | A248D | 1.000 |
| 6:70861973:C:G | A248P | 1.000 |
| 6:70861974:A:C | F247L | 1.000 |
| 6:70861974:A:T | F247L | 1.000 |
| 6:70861975:A:G | F247S | 1.000 |
| 6:70861976:A:G | F247L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000091197 (6:70939799 A>G,T), RS1000149473 (6:70927995 T>C), RS1000220518 (6:70889163 T>C), RS1000247176 (6:70906783 C>T), RS1000252966 (6:70945427 C>G,T), RS1000276170 (6:70907318 G>A), RS1000336470 (6:70873557 A>C), RS1000363105 (6:70947668 A>C), RS1000363823 (6:70885062 G>A,C), RS1000413071 (6:70878457 C>A,T), RS1000414171 (6:70918557 T>G), RS1000414777 (6:70919265 T>G), RS1000419985 (6:70861496 A>G), RS1000439655 (6:70938180 G>A), RS1000527443 (6:70908391 T>C)
Disease associations
OMIM: gene MIM:607497 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000982_4 | F-cell distribution in sickle cell anaemia | 9.000000e-07 |
| GCST001762_575 | Obesity-related traits | 7.000000e-06 |
| GCST003518_15 | Daytime sleep phenotypes | 4.000000e-06 |
| GCST004012_1 | Venous thromboembolism | 3.000000e-06 |
| GCST004012_2 | Venous thromboembolism | 1.000000e-06 |
| GCST012490_193 | Femur bone mineral density x serum urate levels interaction | 4.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004576 | fetal hemoglobin measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0004531 | urate measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects cotreatment | 4 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| trichostatin A | increases expression, decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Copper | decreases expression, affects cotreatment | 1 |
| Diazinon | increases methylation | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Methotrexate | decreases expression | 1 |
| Sodium Dodecyl Sulfate | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.