IGSF11
gene geneOn this page
Also known as BT-IgSFMGC35227Igsf13VSIG3CT119
Summary
IGSF11 (immunoglobulin superfamily member 11, HGNC:16669) is a protein-coding gene on chromosome 3q13.32, encoding Immunoglobulin superfamily member 11 (Q5DX21). Functions as a cell adhesion molecule through homophilic interaction.
IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).
Source: NCBI Gene 152404 — RefSeq curated summary.
At a glance
- GWAS associations: 24
- Clinical variants (ClinVar): 68 total
- Druggable target: yes
- MANE Select transcript:
NM_001015887
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16669 |
| Approved symbol | IGSF11 |
| Name | immunoglobulin superfamily member 11 |
| Location | 3q13.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BT-IgSF, MGC35227, Igsf13, VSIG3, CT119 |
| Ensembl gene | ENSG00000144847 |
| Ensembl biotype | protein_coding |
| OMIM | 608351 |
| Entrez | 152404 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000354673, ENST00000393775, ENST00000425327, ENST00000441144, ENST00000459718, ENST00000480431, ENST00000483401, ENST00000489689, ENST00000491903, ENST00000494802, ENST00000874675, ENST00000874676, ENST00000874677, ENST00000947895
RefSeq mRNA: 11 — MANE Select: NM_001015887
NM_001015887, NM_001353318, NM_001353319, NM_001353320, NM_001353321, NM_001353322, NM_001353323, NM_001353324, NM_001353325, NM_001353326, NM_152538
CCDS: CCDS2983, CCDS46891, CCDS87123, CCDS87124, CCDS87125
Canonical transcript exons
ENST00000393775 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000967477 | 118926101 | 118926256 |
| ENSE00001241518 | 118904648 | 118904798 |
| ENSE00001241526 | 118905596 | 118905718 |
| ENSE00001851354 | 118900557 | 118902961 |
| ENSE00001953097 | 119034531 | 119034846 |
| ENSE00003497813 | 118928509 | 118928716 |
| ENSE00003623791 | 118930112 | 118930275 |
Expression profiles
Bgee: expression breadth ubiquitous, 186 present calls, max score 97.36.
FANTOM5 (CAGE): breadth broad, TPM avg 3.2818 / max 192.4690, expressed in 295 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43964 | 1.2343 | 195 |
| 43963 | 1.1153 | 180 |
| 43962 | 0.2324 | 103 |
| 43966 | 0.2145 | 87 |
| 43960 | 0.1602 | 83 |
| 43965 | 0.1395 | 89 |
| 43961 | 0.1077 | 67 |
| 43967 | 0.0343 | 18 |
| 43970 | 0.0288 | 3 |
| 43969 | 0.0106 | 6 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.36 | gold quality |
| oocyte | CL:0000023 | 97.27 | gold quality |
| corpus callosum | UBERON:0002336 | 92.11 | gold quality |
| left testis | UBERON:0004533 | 91.47 | gold quality |
| right testis | UBERON:0004534 | 90.85 | gold quality |
| spinal cord | UBERON:0002240 | 90.00 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.99 | gold quality |
| testis | UBERON:0000473 | 89.92 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.52 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 89.27 | gold quality |
| globus pallidus | UBERON:0001875 | 88.81 | gold quality |
| caudate nucleus | UBERON:0001873 | 86.60 | gold quality |
| ventricular zone | UBERON:0003053 | 86.40 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 86.18 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 86.10 | gold quality |
| putamen | UBERON:0001874 | 85.83 | gold quality |
| medulla oblongata | UBERON:0001896 | 85.10 | gold quality |
| substantia nigra | UBERON:0002038 | 85.07 | gold quality |
| midbrain | UBERON:0001891 | 84.66 | gold quality |
| nucleus accumbens | UBERON:0001882 | 84.56 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.40 | gold quality |
| amygdala | UBERON:0001876 | 84.16 | gold quality |
| Ammon’s horn | UBERON:0001954 | 84.00 | gold quality |
| pons | UBERON:0000988 | 83.84 | gold quality |
| temporal lobe | UBERON:0001871 | 83.79 | gold quality |
| postcentral gyrus | UBERON:0002581 | 83.78 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 83.56 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 83.33 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.24 | gold quality |
| entorhinal cortex | UBERON:0002728 | 83.16 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.70 |
| E-CURD-10 | no | 8.10 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
156 targeting IGSF11, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| 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-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
Literature-anchored findings (GeneRIF, showing 7)
- Molecular cloning of BT-IgSF which is preferentially expressed by brain and testis (PMID:12207903)
- cell adhesion-inducing function of BT-IgSF suggests a role of the cell surface molecule in the development/function of the central nervous system and spermatogenesis (PMID:15795899)
- IGSF11 is a good candidate of cancer-testis antigen. Furthermore, suppression of IGSF11 by siRNA retarded the growth of gastric cancer cells. (PMID:16108831)
- Concerted role for IgSF11 and PSD-95 in the regulation of AMPAR-mediated synaptic transmission and plasticity. (PMID:26595655)
- this study shows that VSIG-3 as a ligand of VISTA inhibits human T-cell function (PMID:30220083)
- Structural Basis of VSIG3: The Ligand for VISTA. (PMID:33841409)
- IGSF11 is required for pericentric heterochromatin dissociation during meiotic diplotene. (PMID:34491997)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | igsf11 | ENSDARG00000109783 |
| mus_musculus | Igsf11 | ENSMUSG00000022790 |
| rattus_norvegicus | Igsf11 | ENSRNOG00000001525 |
Paralogs (14): VSIG2 (ENSG00000019102), VSIG1 (ENSG00000101842), VSIR (ENSG00000107738), GPA33 (ENSG00000143167), ESAM (ENSG00000149564), CXADR (ENSG00000154639), JAM2 (ENSG00000154721), F11R (ENSG00000158769), MXRA8 (ENSG00000162576), JAM3 (ENSG00000166086), CLMP (ENSG00000166250), MUC15 (ENSG00000169550), VSTM2B (ENSG00000187135), VSIG8 (ENSG00000243284)
Protein
Protein identifiers
Immunoglobulin superfamily member 11 — Q5DX21 (reviewed: Q5DX21)
Alternative names: Brain and testis-specific immunoglobulin superfamily protein, V-set and immunoglobulin domain-containing protein 3
All UniProt accessions (5): Q5DX21, C9IZX3, C9JAD3, C9JBA5, C9JMW0
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a cell adhesion molecule through homophilic interaction. Stimulates cell growth.
Subcellular location. Cell membrane.
Tissue specificity. Abundantly expressed in testis and ovary and to a lower extent in brain, kidney and skeletal muscle.
Post-translational modifications. N-glycosylated.
Miscellaneous. The last 20 cytoplasmic amino acids are not required for the cell adhesion function.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5DX21-1 | 1 | yes |
| Q5DX21-2 | 2 | |
| Q5DX21-3 | 3 |
RefSeq proteins (11): NP_001015887, NP_001340247, NP_001340248, NP_001340249, NP_001340250, NP_001340251, NP_001340252, NP_001340253, NP_001340254, NP_001340255, NP_689751 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR042758 | IGSF11 | Family |
Pfam: PF07686, PF13927
UniProt features (21 total): sequence variant 3, sequence conflict 3, disulfide bond 2, splice variant 2, topological domain 2, domain 2, signal peptide 1, chain 1, glycosylation site 1, transmembrane region 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5DX21-F1 | 73.38 | 0.47 |
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): 378
Disulfide bonds (2): 44–120, 165–215
Glycosylation sites (1): 102
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 104 (showing top):
GOBP_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, ATTCTTT_MIR186, GOBP_SYNAPTIC_SIGNALING, GOBP_POSITIVE_REGULATION_OF_LONG_TERM_SYNAPTIC_POTENTIATION, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, GOBP_LONG_TERM_SYNAPTIC_POTENTIATION, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_LONG_TERM_SYNAPTIC_POTENTIATION
GO Biological Process (7): homophilic cell-cell adhesion (GO:0007156), obsolete cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742), trans-synaptic signaling (GO:0099537), positive regulation of long-term synaptic potentiation (GO:1900273), regulation of presynapse assembly (GO:1905606), cell adhesion (GO:0007155), regulation of synaptic plasticity (GO:0048167)
GO Molecular Function (2): ionotropic glutamate receptor binding (GO:0035255), protein binding (GO:0005515)
GO Cellular Component (4): plasma membrane (GO:0005886), cell-cell junction (GO:0005911), synapse (GO:0045202), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-cell adhesion | 1 |
| synaptic signaling | 1 |
| positive regulation of synaptic transmission | 1 |
| long-term synaptic potentiation | 1 |
| regulation of long-term synaptic potentiation | 1 |
| regulation of synapse assembly | 1 |
| presynapse assembly | 1 |
| regulation of presynapse organization | 1 |
| cellular process | 1 |
| modulation of chemical synaptic transmission | 1 |
| regulation of biological quality | 1 |
| glutamate receptor binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| anchoring junction | 1 |
| cell junction | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
850 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IGSF11 | VSIR | Q9H7M9 | 740 |
| IGSF11 | CSF1R | P07333 | 573 |
| IGSF11 | HAVCR2 | Q8TDQ0 | 571 |
| IGSF11 | LAG3 | P18627 | 561 |
| IGSF11 | CTLA4 | P16410 | 551 |
| IGSF11 | TIGIT | Q495A1 | 541 |
| IGSF11 | BTLA | Q7Z6A9 | 484 |
| IGSF11 | KCNJ13 | O60928 | 479 |
| IGSF11 | VSIG1 | Q86XK7 | 454 |
| IGSF11 | TNFRSF18 | Q9Y5U5 | 433 |
| IGSF11 | PPP1R36 | Q96LQ0 | 420 |
| IGSF11 | LRFN2 | Q9ULH4 | 406 |
| IGSF11 | DNAJC24 | Q6P3W2 | 406 |
| IGSF11 | MAU2 | Q9Y6X3 | 400 |
| IGSF11 | MCHR1 | Q99705 | 399 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IGSF11 | IGSF11 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IGSF10 | IGSF11 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (2): IGSF11 (Two-hybrid), IGSF11 (Reconstituted Complex)
ESM2 similar proteins: A0A0R4IGV4, A0A8M2B818, A0JM41, A2VD98, B0CLX4, B6ZK77, D3YX43, F1LW30, O00241, O18906, O54901, O88775, O95256, P00545, P04218, P0C673, P10522, P13369, P17948, P21995, P27931, P35916, P35917, P35969, P37301, P42071, P42703, P53767, Q08DK1, Q15762, Q58EG3, Q5DX21, Q5FWR8, Q5R412, Q5U2P2, Q5VJ70, Q6GMZ9, Q6PCB8, Q6X936, Q7TSN7
Diamond homologs: P01635, P01636, P01670, P01671, P01674, P01685, P01696, P04945, P09564, P0C673, P50283, Q08DK1, Q5DX21, Q5U2P2, A2AJ76, D3YXG0, P78310, Q08E08, Q29RR6, Q4KLY3, Q5R764, Q6AYD4, Q6WRH9, Q6WRI0, Q86XK7, Q8K1G0, Q8NDA2, Q8R373, Q90W79, Q90Y50, Q91664, Q925F2, Q92626, Q96IQ7, Q96JA1, Q96RW7, Q99795, Q9D2J4, Q9H6B4, Q9JMB8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3146 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:118902958:CTCT:C | acceptor_gain | 1.0000 |
| 3:118902960:CT:C | acceptor_gain | 1.0000 |
| 3:118902962:C:CC | acceptor_gain | 1.0000 |
| 3:118904643:CAAA:C | donor_gain | 1.0000 |
| 3:118904644:AAACC:A | donor_loss | 1.0000 |
| 3:118904645:AACCT:A | donor_loss | 1.0000 |
| 3:118904646:A:C | donor_loss | 1.0000 |
| 3:118905594:A:AC | donor_gain | 1.0000 |
| 3:118905595:C:CC | donor_gain | 1.0000 |
| 3:118905719:C:CC | acceptor_gain | 1.0000 |
| 3:118926099:AC:A | donor_gain | 1.0000 |
| 3:118926100:CC:C | donor_gain | 1.0000 |
| 3:118926257:C:CC | acceptor_gain | 1.0000 |
| 3:118930108:ATACC:A | donor_loss | 1.0000 |
| 3:118930110:A:AT | donor_loss | 1.0000 |
| 3:118930273:CAC:C | acceptor_gain | 1.0000 |
| 3:118930276:C:CA | acceptor_loss | 1.0000 |
| 3:118930276:C:CC | acceptor_gain | 1.0000 |
| 3:118931311:A:AC | donor_gain | 1.0000 |
| 3:118931312:A:C | donor_gain | 1.0000 |
| 3:118932408:C:A | donor_gain | 1.0000 |
| 3:118958427:T:A | donor_gain | 1.0000 |
| 3:118902957:CCTCT:C | acceptor_gain | 0.9900 |
| 3:118902958:CTCTC:C | acceptor_gain | 0.9900 |
| 3:118902959:TCT:T | acceptor_gain | 0.9900 |
| 3:118902959:TCTCT:T | acceptor_gain | 0.9900 |
| 3:118902960:CTC:C | acceptor_gain | 0.9900 |
| 3:118902961:TC:T | acceptor_loss | 0.9900 |
| 3:118902961:TCT:T | acceptor_gain | 0.9900 |
| 3:118902962:C:G | acceptor_gain | 0.9900 |
AlphaMissense
2791 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:118905655:C:G | C215S | 1.000 |
| 3:118905656:A:T | C215S | 1.000 |
| 3:118926147:C:A | W178C | 1.000 |
| 3:118926147:C:G | W178C | 1.000 |
| 3:118926149:A:G | W178R | 1.000 |
| 3:118926149:A:T | W178R | 1.000 |
| 3:118928581:A:C | Y118D | 1.000 |
| 3:118905642:A:C | N219K | 0.999 |
| 3:118905642:A:T | N219K | 0.999 |
| 3:118905654:G:C | C215W | 0.999 |
| 3:118905655:C:T | C215Y | 0.999 |
| 3:118905656:A:G | C215R | 0.999 |
| 3:118905662:A:C | Y213D | 0.999 |
| 3:118926148:C:G | W178S | 0.999 |
| 3:118926186:A:C | C165W | 0.999 |
| 3:118926187:C:G | C165S | 0.999 |
| 3:118926187:C:T | C165Y | 0.999 |
| 3:118926188:A:G | C165R | 0.999 |
| 3:118926188:A:T | C165S | 0.999 |
| 3:118926236:A:G | C149R | 0.999 |
| 3:118928520:A:G | L138P | 0.999 |
| 3:118928574:C:G | C120S | 0.999 |
| 3:118928575:A:G | C120R | 0.999 |
| 3:118928575:A:T | C120S | 0.999 |
| 3:118905621:A:C | C226W | 0.998 |
| 3:118905655:C:A | C215F | 0.998 |
| 3:118926160:G:C | P174R | 0.998 |
| 3:118926166:G:T | P172H | 0.998 |
| 3:118926193:A:G | L163P | 0.998 |
| 3:118926234:G:C | C149W | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000031433 (3:118946585 G>A), RS1000032365 (3:119074138 A>C), RS1000034318 (3:119086273 T>C), RS1000034569 (3:119022563 G>A), RS1000039251 (3:118928814 C>T), RS1000040493 (3:119019729 T>C), RS1000067000 (3:119107052 G>C), RS1000082237 (3:119129092 T>A), RS1000083079 (3:118948933 C>A,T), RS1000083181 (3:119143559 C>A,T), RS1000092295 (3:118929217 T>A,C), RS1000107436 (3:119015947 A>G), RS1000121460 (3:118974785 T>C), RS1000130003 (3:118952952 T>C), RS1000139335 (3:118915520 A>G)
Disease associations
OMIM: gene MIM:608351 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
24 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001651_37 | Response to amphetamines | 9.000000e-06 |
| GCST001762_178 | Obesity-related traits | 1.000000e-06 |
| GCST002541_1 | Menarche (age at onset) | 2.000000e-27 |
| GCST003059_8 | Parkinson’s disease | 1.000000e-06 |
| GCST003123_11 | Severe influenza A (H1N1) infection | 2.000000e-10 |
| GCST003559_2 | Bone mineral density (hip) | 1.000000e-09 |
| GCST003559_4 | Bone mineral density (hip) | 4.000000e-10 |
| GCST004904_138 | Body mass index | 3.000000e-09 |
| GCST005987_30 | Albumin-globulin ratio | 2.000000e-08 |
| GCST007323_18 | Risk-taking tendency (4-domain principal component model) | 9.000000e-09 |
| GCST007323_79 | Risk-taking tendency (4-domain principal component model) | 2.000000e-10 |
| GCST007326_67 | Number of sexual partners | 8.000000e-09 |
| GCST007327_19 | Smoking status (ever vs never smokers) | 2.000000e-08 |
| GCST007327_212 | Smoking status (ever vs never smokers) | 4.000000e-16 |
| GCST007327_90 | Smoking status (ever vs never smokers) | 7.000000e-10 |
| GCST007327_96 | Smoking status (ever vs never smokers) | 1.000000e-09 |
| GCST008358_3 | Response to cognitive-behavioural therapy in anxiety and major depressive disorders | 5.000000e-06 |
| GCST008360_5 | Response to cognitive-behavioural therapy in anxiety disorder | 6.000000e-06 |
| GCST008595_38 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 4.000000e-08 |
| GCST008810_25 | Smoking initiation (ever regular vs never regular) | 8.000000e-09 |
| GCST008810_53 | Smoking initiation (ever regular vs never regular) | 9.000000e-10 |
| GCST008839_418 | Height | 4.000000e-10 |
| GCST010002_436 | Refractive error | 6.000000e-16 |
| GCST011703_63 | Smoking initiation | 1.000000e-09 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005118 | IGFBP-1 measurement |
| EFO:0004703 | age at menarche |
| EFO:1001488 | influenza A (H1N1) |
| EFO:0007702 | hip bone mineral density |
| EFO:0004340 | body mass index |
| EFO:0005128 | albumin:globulin ratio measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0007820 | cognitive behavioural therapy |
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0005670 | smoking initiation |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5291534 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 6 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| perfluorooctane sulfonic acid | increases 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 | affects cotreatment, decreases expression, increases expression | 1 |
| licochalcone B | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cisplatin | affects expression | 1 |
| Estradiol | affects binding, increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Methapyrilene | increases methylation | 1 |
| Nickel | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5233350 | Binding | Binding affinity to recombinant human VSIG3 (23 to 241 residues extracellular binding domain expressed in Escherichia coli BL21 (DE3) incubated for 30 mins by microscale thermophoresis analysis | VISTA inhibitors in cancer immunotherapy: a short perspective on recent progresses. — RSC Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.