LGALS9C
gene geneOn this page
Summary
LGALS9C (galectin 9C, HGNC:33874) is a protein-coding gene on chromosome 17p11.2, encoding Galectin-9C (Q6DKI2). Binds galactosides.
This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene.
Source: NCBI Gene 654346 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 67 total — 2 pathogenic
- Phenotypes (HPO): 1
- Druggable target: yes
- MANE Select transcript:
NM_001040078
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33874 |
| Approved symbol | LGALS9C |
| Name | galectin 9C |
| Location | 17p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000171916 |
| Ensembl biotype | protein_coding |
| Entrez | 654346 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 6 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000328114, ENST00000577265, ENST00000577691, ENST00000578450, ENST00000578563, ENST00000578983, ENST00000579773, ENST00000580674, ENST00000581545, ENST00000582333, ENST00000582928, ENST00000583322, ENST00000584127, ENST00000584170, ENST00000584941, ENST00000892832
RefSeq mRNA: 1 — MANE Select: NM_001040078
NM_001040078
CCDS: CCDS32587
Canonical transcript exons
ENST00000328114 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002338734 | 18494221 | 18494945 |
| ENSE00002730671 | 18476789 | 18476893 |
| ENSE00003468982 | 18491945 | 18491989 |
| ENSE00003478684 | 18488941 | 18489036 |
| ENSE00003489067 | 18490733 | 18490768 |
| ENSE00003541781 | 18492457 | 18492545 |
| ENSE00003551689 | 18492697 | 18492859 |
| ENSE00003555978 | 18487647 | 18487757 |
| ENSE00003583482 | 18485934 | 18486135 |
| ENSE00003614526 | 18483875 | 18483966 |
| ENSE00003639363 | 18491273 | 18491323 |
Expression profiles
Bgee: expression breadth ubiquitous, 123 present calls, max score 92.55.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2393 / max 37.3791, expressed in 96 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159815 | 0.2393 | 96 |
Top tissues by expression
132 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| rectum | UBERON:0001052 | 92.55 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.33 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.79 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.95 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.50 | gold quality |
| transverse colon | UBERON:0001157 | 82.59 | gold quality |
| blood | UBERON:0000178 | 81.14 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.28 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 80.18 | gold quality |
| gall bladder | UBERON:0002110 | 79.54 | gold quality |
| body of stomach | UBERON:0001161 | 78.97 | gold quality |
| colonic epithelium | UBERON:0000397 | 76.85 | gold quality |
| stomach | UBERON:0000945 | 76.60 | gold quality |
| granulocyte | CL:0000094 | 76.01 | gold quality |
| duodenum | UBERON:0002114 | 75.70 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 74.74 | gold quality |
| small intestine | UBERON:0002108 | 74.48 | gold quality |
| vagina | UBERON:0000996 | 71.16 | gold quality |
| intestine | UBERON:0000160 | 69.85 | gold quality |
| fundus of stomach | UBERON:0001160 | 69.72 | gold quality |
| colon | UBERON:0001155 | 68.58 | gold quality |
| spleen | UBERON:0002106 | 67.51 | gold quality |
| esophagus | UBERON:0001043 | 64.91 | gold quality |
| vermiform appendix | UBERON:0001154 | 64.30 | gold quality |
| leukocyte | CL:0000738 | 64.16 | gold quality |
| monocyte | CL:0000576 | 63.00 | gold quality |
| lymph node | UBERON:0000029 | 62.72 | gold quality |
| tonsil | UBERON:0002372 | 60.68 | gold quality |
| ectocervix | UBERON:0012249 | 60.10 | gold quality |
| right lobe of liver | UBERON:0001114 | 57.90 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.02 |
| E-ENAD-17 | no | 11.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting LGALS9C, 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-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-6744-3P | 99.22 | 64.41 | 972 |
| HSA-MIR-4757-5P | 99.12 | 64.51 | 981 |
| HSA-MIR-655-5P | 98.74 | 65.93 | 888 |
| HSA-MIR-455-5P | 98.74 | 67.31 | 795 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
| HSA-MIR-6880-5P | 98.08 | 65.59 | 1282 |
| HSA-MIR-204-3P | 97.80 | 66.84 | 1656 |
| HSA-MIR-4646-5P | 97.70 | 66.84 | 1692 |
| HSA-MIR-6857-3P | 96.70 | 65.43 | 915 |
| HSA-MIR-6782-5P | 96.45 | 64.42 | 612 |
| HSA-MIR-564 | 95.85 | 65.01 | 163 |
| HSA-MIR-4693-3P | 95.23 | 65.92 | 735 |
Literature-anchored findings (GeneRIF, showing 2)
- Functional analysis of the carbohydrate recognition domains and a linker peptide as to eosinophil chemoattractant activity (PMID:11971863)
- Specific recognition of Leishmania major poly-beta-galactosyl epitopes by this compound implicates it in interactions between L. major and host cells. (PMID:12684513)
Cross-species orthologs
23 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lgals3b | ENSDARG00000044001 |
| danio_rerio | si:ch211-10a23.2 | ENSDARG00000060656 |
| danio_rerio | si:dkey-95h12.2 | ENSDARG00000092923 |
| drosophila_melanogaster | galectin | FBGN0031213 |
| drosophila_melanogaster | CG11374 | FBGN0031214 |
| drosophila_melanogaster | CG13950 | FBGN0031289 |
| caenorhabditis_elegans | WBGENE00002264 | |
| caenorhabditis_elegans | WBGENE00002266 | |
| caenorhabditis_elegans | WBGENE00002269 | |
| caenorhabditis_elegans | WBGENE00002270 | |
| caenorhabditis_elegans | WBGENE00002271 | |
| caenorhabditis_elegans | WBGENE00004165 | |
| caenorhabditis_elegans | C27C7.5 | WBGENE00007768 |
| caenorhabditis_elegans | F46A8.3 | WBGENE00009746 |
| caenorhabditis_elegans | F46A8.4 | WBGENE00009747 |
| caenorhabditis_elegans | F46A8.5 | WBGENE00009748 |
| caenorhabditis_elegans | F46A8.8 | WBGENE00009751 |
| caenorhabditis_elegans | WBGENE00017080 | |
| caenorhabditis_elegans | WBGENE00018255 | |
| caenorhabditis_elegans | WBGENE00018649 | |
| caenorhabditis_elegans | WBGENE00018650 | |
| caenorhabditis_elegans | WBGENE00018651 | |
| caenorhabditis_elegans | WBGENE00235368 |
Paralogs (16): LGALS14 (ENSG00000006659), LGALS2 (ENSG00000100079), LGALS1 (ENSG00000100097), LGALS13 (ENSG00000105198), CLC (ENSG00000105205), LGALS8 (ENSG00000116977), LGALSL (ENSG00000119862), LGALS3 (ENSG00000131981), LGALS12 (ENSG00000133317), LGALS9 (ENSG00000168961), LGALS9B (ENSG00000170298), LGALS4 (ENSG00000171747), LGALS7B (ENSG00000178934), LGALS7 (ENSG00000205076), LGALS16 (ENSG00000249861), GRIFIN (ENSG00000275572)
Protein
Protein identifiers
Galectin-9C — Q6DKI2 (reviewed: Q6DKI2)
Alternative names: Galectin-9-like protein B
All UniProt accessions (8): Q6DKI2, J3KRF0, J3KSV0, J3KSY2, J3KT17, J3QKS2, J3QR96, J3QSH0
UniProt curated annotations — full annotation on UniProt →
Function. Binds galactosides.
Miscellaneous. The LGALS9-like proteins are encoded by a duplicated regions on chromosome 17; there are at least 3 genes coding for galectin-9-like proteins.
RefSeq proteins (1): NP_001035167* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001079 | Galectin_CRD | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR044156 | Galectin-like | Family |
Pfam: PF00337
UniProt features (11 total): sequence conflict 4, domain 2, binding site 2, chain 1, region of interest 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6DKI2-F1 | 84.74 | 0.77 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (2): 82–88; 288–294
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 55 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_LEUKOCYTE_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_TYPE_II_INTERFERON_PRODUCTION, GOBP_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_T_CELL_PROLIFERATION, GOBP_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_LEUKOCYTE_CELL_CELL_ADHESION
GO Biological Process (3): positive regulation of gene expression (GO:0010628), negative regulation of type II interferon production (GO:0032689), negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)
GO Molecular Function (3): galactoside binding (GO:0016936), carbohydrate binding (GO:0030246), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| negative regulation of cytokine production | 1 |
| type II interferon production | 1 |
| regulation of type II interferon production | 1 |
| CD4-positive, alpha-beta T cell proliferation | 1 |
| negative regulation of alpha-beta T cell proliferation | 1 |
| negative regulation of CD4-positive, alpha-beta T cell activation | 1 |
| regulation of CD4-positive, alpha-beta T cell proliferation | 1 |
| carbohydrate derivative binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1054 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LGALS9C | HAVCR2 | Q8TDQ0 | 999 |
| LGALS9C | LAG3 | P18627 | 991 |
| LGALS9C | CLEC7A | Q9BXN2 | 983 |
| LGALS9C | CTLA4 | P16410 | 974 |
| LGALS9C | TIGIT | Q495A1 | 950 |
| LGALS9C | PDCD1 | Q15116 | 947 |
| LGALS9C | CD44 | P16070 | 928 |
| LGALS9C | CD274 | Q9NZQ7 | 871 |
| LGALS9C | TNFRSF9 | Q07011 | 805 |
| LGALS9C | BTLA | Q7Z6A9 | 799 |
| LGALS9C | CEACAM1 | P13688 | 796 |
| LGALS9C | CD8A | P01732 | 778 |
| LGALS9C | HSPB3 | Q12988 | 764 |
| LGALS9C | PTPRC | P08575 | 738 |
| LGALS9C | TNFRSF14 | Q92956 | 702 |
IntAct
101 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LGALS9C | PLSCR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | DAB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | RBPMS | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLSCR1 | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBPMS | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| QARS1 | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-2 | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | CASP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | CCK | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYAA | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| DYNC1H1 | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | ATN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 | |
| LGALS9C | F13A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | GFAP | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | LAMP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | NDUFV2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOS3 | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | KLK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNALI1 | LGALS9C | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS9C | BAG6 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (68): LGALS9C (Two-hybrid), LGALS9C (Two-hybrid), LGALS9C (Two-hybrid), LGALS9C (Two-hybrid), ATP2B4 (Affinity Capture-MS), RRAGC (Affinity Capture-MS), SLC12A2 (Affinity Capture-MS), SLC4A2 (Affinity Capture-MS), SLC4A7 (Affinity Capture-MS), ABCC4 (Affinity Capture-MS), SLC12A6 (Affinity Capture-MS), SLC12A4 (Affinity Capture-MS), SLC12A7 (Affinity Capture-MS), DAG1 (Affinity Capture-MS), LGALS9 (Affinity Capture-MS)
ESM2 similar proteins: A8MUM7, C0HJQ1, C0HJR3, O00182, O00214, O08573, O44126, O54891, O54974, O55060, P05162, P07583, P09382, P11116, P11762, P16045, P23668, P36573, P38552, P47929, P47967, P48538, P56217, P56470, P61801, P81184, P97590, P97840, Q05315, Q09581, Q1ECW6, Q29058, Q3B8N2, Q3MHZ8, Q3T0D6, Q49I35, Q504A5, Q5R7M1, Q62665, Q68FJ4
Diamond homologs: A4D1Z8, C0HJQ1, C0HJR3, O00182, O88644, P08699, P09382, P11116, P16110, P47953, P47967, P97840, Q3B8N2, Q3MHZ8, Q3T0D6, Q49I35, Q6DGJ1, Q6DKI2, Q9D1U0, A8MUM7, O08573, O54891, P38486, P38552, P47929, P79238, P97400, Q05315, Q29058, Q8K419, Q8TCE9, Q9UHV8, O00214, O44126, O54974, P07583, P08520, P17931, P23668, P47845
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2498730 | GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1 | Pathogenic |
| 545217 | Single allele | Pathogenic |
SpliceAI
1853 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:18476889:GCCCA:G | donor_gain | 1.0000 |
| 17:18476894:G:GG | donor_gain | 1.0000 |
| 17:18491269:CCAG:C | acceptor_loss | 1.0000 |
| 17:18491270:CA:C | acceptor_loss | 1.0000 |
| 17:18491271:A:AG | acceptor_gain | 1.0000 |
| 17:18491271:AGAC:A | acceptor_loss | 1.0000 |
| 17:18491272:G:GG | acceptor_gain | 1.0000 |
| 17:18491322:CT:C | donor_gain | 1.0000 |
| 17:18491323:TG:T | donor_loss | 1.0000 |
| 17:18491324:G:GG | donor_gain | 1.0000 |
| 17:18491325:TAAG:T | donor_loss | 1.0000 |
| 17:18491990:G:GG | donor_gain | 1.0000 |
| 17:18492455:A:AG | acceptor_gain | 1.0000 |
| 17:18492455:AGCC:A | acceptor_gain | 1.0000 |
| 17:18492456:G:GG | acceptor_gain | 1.0000 |
| 17:18492456:GCC:G | acceptor_gain | 1.0000 |
| 17:18492456:GCCG:G | acceptor_gain | 1.0000 |
| 17:18492543:GAG:G | donor_gain | 1.0000 |
| 17:18492861:TAA:T | donor_loss | 1.0000 |
| 17:18494216:CACA:C | acceptor_loss | 1.0000 |
| 17:18494218:CA:C | acceptor_loss | 1.0000 |
| 17:18494220:G:GA | acceptor_loss | 1.0000 |
| 17:18494220:GGT:G | acceptor_gain | 1.0000 |
| 17:18494326:G:GT | donor_gain | 1.0000 |
| 17:18494326:G:T | donor_gain | 1.0000 |
| 17:18485925:T:TA | acceptor_gain | 0.9900 |
| 17:18485926:G:A | acceptor_gain | 0.9900 |
| 17:18485931:TAG:T | acceptor_loss | 0.9900 |
| 17:18485995:C:A | acceptor_gain | 0.9900 |
| 17:18486132:CAAGG:C | donor_loss | 0.9900 |
AlphaMissense
2368 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:18492774:G:C | R280P | 0.995 |
| 17:18492797:T:A | W288R | 0.993 |
| 17:18492797:T:C | W288R | 0.993 |
| 17:18492799:G:C | W288C | 0.992 |
| 17:18492799:G:T | W288C | 0.992 |
| 17:18492699:T:C | F255S | 0.991 |
| 17:18492771:T:A | V279D | 0.991 |
| 17:18492527:T:A | V248D | 0.990 |
| 17:18492698:T:C | F255L | 0.990 |
| 17:18492700:C:A | F255L | 0.990 |
| 17:18492700:C:G | F255L | 0.990 |
| 17:18492750:G:C | R272P | 0.989 |
| 17:18492778:C:A | N281K | 0.989 |
| 17:18492778:C:G | N281K | 0.989 |
| 17:18492773:C:A | R280S | 0.988 |
| 17:18492854:T:C | F307L | 0.988 |
| 17:18492856:C:A | F307L | 0.988 |
| 17:18492856:C:G | F307L | 0.988 |
| 17:18492521:G:A | G246D | 0.987 |
| 17:18485981:T:C | F60S | 0.986 |
| 17:18492735:T:C | F267S | 0.986 |
| 17:18492737:C:G | H268D | 0.985 |
| 17:18486131:T:C | F110S | 0.984 |
| 17:18485987:T:C | F62S | 0.983 |
| 17:18487683:C:G | H124D | 0.983 |
| 17:18492777:A:T | N281I | 0.982 |
| 17:18483933:T:A | V33D | 0.981 |
| 17:18487720:T:A | V136D | 0.981 |
| 17:18486046:T:A | W82R | 0.980 |
| 17:18486046:T:C | W82R | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1001084561 (17:18489256 A>C), RS1001470721 (17:18491740 G>A), RS1001523080 (17:18492323 T>A), RS1001807907 (17:18486906 A>G), RS1001858659 (17:18488414 T>TA), RS1003483567 (17:18482789 C>T), RS1003536196 (17:18483501 T>C), RS1005038138 (17:18481625 G>A), RS1005301716 (17:18475692 T>C), RS1005395669 (17:18480684 T>C), RS1006197486 (17:18487841 C>A,G,T), RS1006656757 (17:18493872 C>T), RS1007533480 (17:18475011 G>A), RS1008377682 (17:18490105 C>T), RS1008744772 (17:18489298 G>C)
Disease associations
OMIM: gene `` | 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
0 associations (top):
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: yes
ChEMBL targets (1): CHEMBL6066211 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Formaldehyde | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5582103 | Binding | Binding affinity to human galectin 9C by fluorescence anisotropy | Galectin-8N-Selective 4-Halophenylphthalazinone-Galactals Double π-Stack in a Unique Pocket. — ACS Med Chem Lett |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1G9 | Abcam A-549 LGALS9C KO | Cancer cell line | Male |
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.