ILDR2
gene geneOn this page
Summary
ILDR2 (immunoglobulin like domain containing receptor 2, HGNC:18131) is a protein-coding gene on chromosome 1q24.1, encoding Immunoglobulin-like domain-containing receptor 2 (Q71H61). May be involved in ER stress pathways with effects on lipid homeostasis and insulin secretion.
Involved in negative regulation of T cell activation. Predicted to be located in tight junction. Predicted to be active in membrane.
Source: NCBI Gene 387597 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 103 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_199351
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18131 |
| Approved symbol | ILDR2 |
| Name | immunoglobulin like domain containing receptor 2 |
| Location | 1q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000143195 |
| Ensembl biotype | protein_coding |
| OMIM | 618081 |
| Entrez | 387597 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000271417, ENST00000414590, ENST00000469934, ENST00000525740, ENST00000526687, ENST00000528703, ENST00000529071, ENST00000529387, ENST00000614979, ENST00000880432
RefSeq mRNA: 3 — MANE Select: NM_199351
NM_001410891, NM_001410892, NM_199351
CCDS: CCDS1256, CCDS91097, CCDS91098
Canonical transcript exons
ENST00000271417 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000958594 | 166957769 | 166958101 |
| ENSE00000958595 | 166956733 | 166956852 |
| ENSE00000958596 | 166936591 | 166936737 |
| ENSE00000958597 | 166927067 | 166927180 |
| ENSE00001367803 | 166920707 | 166921379 |
| ENSE00001371788 | 166935301 | 166935477 |
| ENSE00001375693 | 166922593 | 166922809 |
| ENSE00001376217 | 166908187 | 166919390 |
| ENSE00001381197 | 166939514 | 166939570 |
| ENSE00001403958 | 166975223 | 166975540 |
Expression profiles
Bgee: expression breadth ubiquitous, 182 present calls, max score 90.74.
FANTOM5 (CAGE): breadth broad, TPM avg 2.5280 / max 83.7260, expressed in 427 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15752 | 1.2617 | 341 |
| 15751 | 0.9259 | 305 |
| 15750 | 0.2871 | 166 |
| 15749 | 0.0533 | 28 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 90.74 | gold quality |
| kidney epithelium | UBERON:0004819 | 89.67 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.35 | gold quality |
| secondary oocyte | CL:0000655 | 89.16 | gold quality |
| endothelial cell | CL:0000115 | 85.43 | gold quality |
| sperm | CL:0000019 | 84.81 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.03 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 83.54 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 83.00 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.61 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.02 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 80.80 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 80.71 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 80.49 | gold quality |
| amygdala | UBERON:0001876 | 80.47 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.11 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 80.03 | silver quality |
| neocortex | UBERON:0001950 | 79.62 | gold quality |
| pancreatic ductal cell | CL:0002079 | 79.54 | silver quality |
| frontal cortex | UBERON:0001870 | 79.38 | gold quality |
| occipital lobe | UBERON:0002021 | 78.69 | gold quality |
| cerebral cortex | UBERON:0000956 | 78.67 | gold quality |
| parietal pleura | UBERON:0002400 | 78.21 | gold quality |
| temporal lobe | UBERON:0001871 | 77.46 | gold quality |
| hypothalamus | UBERON:0001898 | 77.11 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 76.68 | gold quality |
| testis | UBERON:0000473 | 76.23 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 76.23 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.20 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
333 targeting ILDR2, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
Literature-anchored findings (GeneRIF, showing 1)
- We demonstrated that ZNF70 interacts with ZFP64 and activates HES1 transcription by binding to the HES1 promoter. In addition, HES1 gene expression is increased in ILDR2-knockdown HepG2 cells, in which ZNF70 is translocated from the cytoplasm to the nucleus, suggesting that ZNF70 migration to the nucleus after dissociating from the ILDR2-ZNF70 complex activates HES1 transcription. These results support a novel link betwee (PMID:27353377)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ildr2 | ENSDARG00000014180 |
| danio_rerio | si:zfos-1011f11.2 | ENSDARG00000101073 |
| mus_musculus | Ildr2 | ENSMUSG00000040612 |
| rattus_norvegicus | Ildr2 | ENSRNOG00000025151 |
Paralogs (2): LSR (ENSG00000105699), ILDR1 (ENSG00000145103)
Protein
Protein identifiers
Immunoglobulin-like domain-containing receptor 2 — Q71H61 (reviewed: Q71H61)
Alternative names: Angulin-3
All UniProt accessions (7): Q71H61, E9PLS0, E9PNU3, E9PPL0, E9PQC8, E9PR23, E9PRA4
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in ER stress pathways with effects on lipid homeostasis and insulin secretion. With ILDR1 and LSR, involved in the maintain of the epithelial barrier function through the recruitment of MARVELD2/tricellulin to tricellular tight junctions. Also functions as a B7-like protein family member expressed on immune cells and inflamed tissue and with T-cell inhibitory activity. In the inner ear, may regulate alternative pre-mRNA splicing via binding to TRA2A, TRA2B and SRSF1.
Subunit / interactions. Interacts with MARVELD2 and OCLN. Interacts with P4HB AND HSPA5; the interaction with HSPA5 stabilizes ILDR2 expression. Interacts (via C-terminus) with TRA2A, TRA2B and SRSF1.
Subcellular location. Endoplasmic reticulum membrane. Cell junction. Tight junction. Nucleus.
Tissue specificity. Expressed in testis, brain, pituitary, colon, heart, nerves, prostate, esophagus, lung liver and small intestine. Highly expressed in macrophages, also expressed in monocytes and at low levels in NK and NKT cells (at protein level).
Similarity. Belongs to the immunoglobulin superfamily. LISCH7 family.
RefSeq proteins (3): NP_001397820, NP_001397821, NP_955383* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003599 | Ig_sub | Domain |
| IPR008664 | LISCH7 | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR051874 | Ig-like_domain-LISCH7 | Family |
Pfam: PF05624
UniProt features (18 total): compositionally biased region 4, modified residue 3, region of interest 3, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, sequence variant 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q71H61-F1 | 56.70 | 0.16 |
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 (3): 473, 544, 579
Disulfide bonds (1): 42–145
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 168 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_INSULIN_SECRETION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_HORMONE_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_PANCREAS_DEVELOPMENT, TERAMOTO_OPN_TARGETS_CLUSTER_5, GOBP_CELL_CELL_ADHESION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RNA_SPLICING, GOBP_SECRETION, TGANTCA_AP1_C
GO Biological Process (7): response to glucose (GO:0009749), insulin secretion (GO:0030073), cell differentiation (GO:0030154), pancreas development (GO:0031016), regulation of RNA splicing (GO:0043484), homeostasis of number of cells within a tissue (GO:0048873), negative regulation of T cell activation (GO:0050868)
GO Molecular Function (0):
GO Cellular Component (8): nucleus (GO:0005634), endoplasmic reticulum membrane (GO:0005789), bicellular tight junction (GO:0005923), membrane (GO:0016020), tight junction (GO:0070160), endoplasmic reticulum (GO:0005783), endomembrane system (GO:0012505), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| response to hexose | 1 |
| protein secretion | 1 |
| peptide hormone secretion | 1 |
| cellular developmental process | 1 |
| animal organ development | 1 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| tissue homeostasis | 1 |
| homeostasis of number of cells | 1 |
| T cell activation | 1 |
| regulation of T cell activation | 1 |
| negative regulation of lymphocyte activation | 1 |
| negative regulation of leukocyte cell-cell adhesion | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| cell-cell junction | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
651 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ILDR2 | MARVELD2 | Q8N4S9 | 893 |
| ILDR2 | TRA2A | Q13595 | 581 |
| ILDR2 | OCLN | Q16625 | 559 |
| ILDR2 | POGK | Q9P215 | 511 |
| ILDR2 | ZFP69 | Q49AA0 | 506 |
| ILDR2 | TRA2B | P62995 | 499 |
| ILDR2 | LSR | Q86X29 | 463 |
| ILDR2 | IGSF5 | Q9NSI5 | 455 |
| ILDR2 | J3KSM2 | J3KSM2 | 407 |
| ILDR2 | SRSF1 | Q07955 | 373 |
| ILDR2 | SORCS1 | Q8WY21 | 370 |
| ILDR2 | DNAJC24 | Q6P3W2 | 360 |
| ILDR2 | SRRM4 | A7MD48 | 359 |
| ILDR2 | SFSWAP | Q12872 | 353 |
| ILDR2 | CLDN9 | O95484 | 343 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHRNA4 | FZD6 | psi-mi:“MI:0914”(association) | 0.530 |
| EVA1C | STK25 | psi-mi:“MI:0914”(association) | 0.530 |
| HFE | ADAM10 | psi-mi:“MI:0914”(association) | 0.530 |
| PCDHAC2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| ILDR2 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H1-5 | ILDR2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SFN | ILDR2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CHRNA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ADGRG5 | SLC33A1 | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB1 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | ATP9A | psi-mi:“MI:0914”(association) | 0.350 |
| GRAMD1B | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| KIRREL1 | TNFRSF1A | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC52 | DYSF | psi-mi:“MI:0914”(association) | 0.350 |
| SFTPC | CYTH3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMED5 | DGAT1 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNJ2 | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (61): ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS), ILDR2 (Proximity Label-MS)
ESM2 similar proteins: A0A1L8H8C0, A0A1L8HFX9, A2CEX1, A2RUV4, A4V8B4, A8XU52, C5DGS4, C5DT56, E7KIY3, E9QDC5, F1QPR4, G5EEK3, H2L045, O60504, P27715, Q02645, Q02831, Q11181, Q32NM7, Q3U5C7, Q571K4, Q5T5U3, Q5U303, Q60JJ0, Q6DFG0, Q6DFV3, Q71H61, Q71M21, Q71QF9, Q7Z3G6, Q7ZXH3, Q80Y24, Q86SQ0, Q8BRG8, Q8K1N2, Q8N5C8, Q8NEY8, Q8VEB2, Q96MT3, Q96SK2
Diamond homologs: B5TVM2, Q32NM7, Q5R8C7, Q71H61, Q86SU0, Q86X29, Q8CBR1, Q99KG5, Q9WU74
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 93 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 982219 | NM_199351.3(ILDR2):c.1049G>A (p.Arg350His) | Likely pathogenic |
SpliceAI
1585 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:166921376:CTGG:C | acceptor_gain | 1.0000 |
| 1:166921377:TGG:T | acceptor_gain | 1.0000 |
| 1:166921380:C:CC | acceptor_gain | 1.0000 |
| 1:166922394:TCTAC:T | donor_gain | 1.0000 |
| 1:166922738:T:C | donor_gain | 1.0000 |
| 1:166927066:CAT:C | donor_gain | 1.0000 |
| 1:166927079:T:TA | donor_gain | 1.0000 |
| 1:166956727:ACTT:A | donor_loss | 1.0000 |
| 1:166956730:TACCC:T | donor_loss | 1.0000 |
| 1:166956731:A:AC | donor_gain | 1.0000 |
| 1:166956731:A:T | donor_loss | 1.0000 |
| 1:166956731:AC:A | donor_gain | 1.0000 |
| 1:166956732:C:CC | donor_gain | 1.0000 |
| 1:166956732:C:G | donor_loss | 1.0000 |
| 1:166956732:CC:C | donor_gain | 1.0000 |
| 1:166956732:CCCAA:C | donor_gain | 1.0000 |
| 1:166956852:TC:T | acceptor_loss | 1.0000 |
| 1:166956853:C:CC | acceptor_gain | 1.0000 |
| 1:166956853:C:T | acceptor_loss | 1.0000 |
| 1:166956854:T:A | acceptor_loss | 1.0000 |
| 1:166957841:C:CT | donor_gain | 1.0000 |
| 1:166957842:T:TT | donor_gain | 1.0000 |
| 1:166958098:ATGG:A | acceptor_gain | 1.0000 |
| 1:166958099:TGG:T | acceptor_gain | 1.0000 |
| 1:166975218:CTTAC:C | donor_loss | 1.0000 |
| 1:166975219:TTAC:T | donor_loss | 1.0000 |
| 1:166975220:TAC:T | donor_loss | 1.0000 |
| 1:166975221:ACCTG:A | donor_loss | 1.0000 |
| 1:166975222:C:CT | donor_loss | 1.0000 |
| 1:166919197:C:CA | donor_gain | 0.9900 |
AlphaMissense
4172 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:166927114:T:A | E316V | 1.000 |
| 1:166927117:A:T | V315D | 1.000 |
| 1:166956821:C:A | W137C | 1.000 |
| 1:166956821:C:G | W137C | 1.000 |
| 1:166956843:A:G | L130P | 1.000 |
| 1:166957980:C:A | W56C | 1.000 |
| 1:166957980:C:G | W56C | 1.000 |
| 1:166957982:A:G | W56R | 1.000 |
| 1:166957982:A:T | W56R | 1.000 |
| 1:166927105:A:G | L319P | 0.999 |
| 1:166927113:C:A | E316D | 0.999 |
| 1:166927113:C:G | E316D | 0.999 |
| 1:166936603:A:G | C231R | 0.999 |
| 1:166936630:A:G | C222R | 0.999 |
| 1:166956744:A:G | L163P | 0.999 |
| 1:166956797:A:C | C145W | 0.999 |
| 1:166956798:C:G | C145S | 0.999 |
| 1:166956798:C:T | C145Y | 0.999 |
| 1:166956799:A:G | C145R | 0.999 |
| 1:166956799:A:T | C145S | 0.999 |
| 1:166956823:A:G | W137R | 0.999 |
| 1:166956823:A:T | W137R | 0.999 |
| 1:166956843:A:T | L130H | 0.999 |
| 1:166957837:G:T | A104D | 0.999 |
| 1:166957838:C:G | A104P | 0.999 |
| 1:166957963:C:G | C62S | 0.999 |
| 1:166957964:A:T | C62S | 0.999 |
| 1:166957981:C:G | W56S | 0.999 |
| 1:166927105:A:T | L319Q | 0.998 |
| 1:166927114:T:G | E316A | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000021756 (1:166913648 A>G), RS1000036681 (1:166970643 C>T), RS1000067127 (1:166943309 A>C,G), RS1000115204 (1:166950847 G>A,T), RS1000263075 (1:166920030 G>A,T), RS1000310 (1:166926263 T>C), RS1000334095 (1:166921535 T>A,C), RS1000336100 (1:166909780 T>A,C), RS1000353046 (1:166958636 G>A), RS1000391234 (1:166965797 T>C,G), RS1000437109 (1:166965576 T>TG), RS1000488509 (1:166948042 A>C,G), RS1000493302 (1:166914950 T>C), RS1000503112 (1:166908525 C>T), RS1000541511 (1:166971153 C>T)
Disease associations
OMIM: gene MIM:618081 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (1): Moyamoya angiopathy (Orphanet:477768)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010697_48 | Cortical surface area (min-P) | 3.000000e-13 |
| GCST010698_42 | Subcortical volume (min-P) | 8.000000e-12 |
| GCST010699_55 | Brain morphology (min-P) | 2.000000e-40 |
| GCST010700_39 | Cortical thickness (MOSTest) | 4.000000e-08 |
| GCST010701_100 | Cortical surface area (MOSTest) | 1.000000e-12 |
| GCST010702_40 | Subcortical volume (MOSTest) | 2.000000e-10 |
| GCST010703_26 | Brain morphology (MOSTest) | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
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)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Other immune checkpoint proteins
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases expression, increases methylation | 5 |
| trichostatin A | decreases expression, affects cotreatment | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Cadmium Chloride | increases expression, decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| nickel sulfate | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Vincristine | 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.