GPSM3
geneOn this page
Also known as NG1G18G18.1aG18.1bG18.2AGS4
Summary
GPSM3 (G protein signaling modulator 3, HGNC:13945) is a protein-coding gene on chromosome 6p21.32, encoding G-protein-signaling modulator 3 (Q9Y4H4). Interacts with subunit of G(i) alpha proteins and regulates the activation of G(i) alpha proteins.
Predicted to enable GTPase regulator activity. Predicted to be involved in positive regulation of inflammatory response. Predicted to act upstream of or within positive regulation of cytokine production involved in inflammatory response and positive regulation of leukocyte chemotaxis. Predicted to be located in cytoplasm and plasma membrane.
Source: NCBI Gene 63940 — RefSeq curated summary.
At a glance
- GWAS associations: 33
- Clinical variants (ClinVar): 29 total
- MANE Select transcript:
NM_001276501
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13945 |
| Approved symbol | GPSM3 |
| Name | G protein signaling modulator 3 |
| Location | 6p21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NG1, G18, G18.1a, G18.1b, G18.2, AGS4 |
| Ensembl gene | ENSG00000213654 |
| Ensembl biotype | protein_coding |
| OMIM | 618558 |
| Entrez | 63940 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay
ENST00000375040, ENST00000375043, ENST00000472768, ENST00000487761, ENST00000619085, ENST00000874270, ENST00000874271, ENST00000934374
RefSeq mRNA: 2 — MANE Select: NM_001276501
NM_001276501, NM_022107
CCDS: CCDS34419
Canonical transcript exons
ENST00000375040 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001660163 | 32192148 | 32192250 |
| ENSE00001727499 | 32191709 | 32191908 |
| ENSE00001811353 | 32192472 | 32192643 |
| ENSE00003645792 | 32190766 | 32191503 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 99.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.9197 / max 2505.6758, expressed in 1578 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72933 | 23.6894 | 1245 |
| 72936 | 13.0222 | 1334 |
| 72932 | 11.7123 | 752 |
| 72930 | 0.1925 | 93 |
| 72934 | 0.1237 | 58 |
| 72935 | 0.1138 | 54 |
| 72931 | 0.0657 | 20 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.44 | gold quality |
| blood | UBERON:0000178 | 99.34 | gold quality |
| spleen | UBERON:0002106 | 98.96 | gold quality |
| lymph node | UBERON:0000029 | 98.55 | gold quality |
| leukocyte | CL:0000738 | 98.52 | gold quality |
| monocyte | CL:0000576 | 98.44 | gold quality |
| vermiform appendix | UBERON:0001154 | 98.37 | gold quality |
| bone marrow | UBERON:0002371 | 98.33 | gold quality |
| bone marrow cell | CL:0002092 | 98.23 | gold quality |
| right lung | UBERON:0002167 | 96.13 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.72 | gold quality |
| placenta | UBERON:0001987 | 92.87 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 92.50 | gold quality |
| lung | UBERON:0002048 | 91.95 | gold quality |
| gall bladder | UBERON:0002110 | 91.89 | gold quality |
| small intestine | UBERON:0002108 | 91.77 | gold quality |
| omental fat pad | UBERON:0010414 | 90.78 | gold quality |
| adipose tissue | UBERON:0001013 | 88.72 | gold quality |
| right coronary artery | UBERON:0001625 | 88.05 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.75 | gold quality |
| duodenum | UBERON:0002114 | 87.71 | gold quality |
| apex of heart | UBERON:0002098 | 87.27 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.14 | gold quality |
| tonsil | UBERON:0002372 | 86.55 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.51 | gold quality |
| left uterine tube | UBERON:0001303 | 86.37 | gold quality |
| rectum | UBERON:0001052 | 86.24 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.98 | gold quality |
| transverse colon | UBERON:0001157 | 85.93 | gold quality |
| intestine | UBERON:0000160 | 85.46 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 89.03 |
| E-MTAB-10287 | yes | 32.88 |
| E-HCAD-10 | yes | 26.98 |
| E-GEOD-134144 | yes | 25.42 |
| E-CURD-112 | yes | 19.13 |
| E-MTAB-8410 | yes | 13.24 |
| E-ANND-3 | yes | 11.73 |
| E-MTAB-9388 | yes | 10.60 |
| E-HCAD-8 | no | 175.97 |
| E-CURD-89 | no | 96.31 |
| E-MTAB-5061 | no | 3.84 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting GPSM3, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-6088 | 99.29 | 68.45 | 1284 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-3199 | 99.17 | 65.19 | 696 |
| HSA-MIR-8052 | 99.17 | 65.01 | 719 |
| HSA-MIR-6809-5P | 99.13 | 68.45 | 1223 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-6895-3P | 98.79 | 65.69 | 996 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-6824-3P | 98.44 | 67.62 | 1154 |
| HSA-MIR-6764-3P | 98.44 | 67.64 | 1153 |
Literature-anchored findings (GeneRIF, showing 7)
- Mutational analysis of the role of GoLoco motifs in guanine nucleotide dissociation inhibitor activity of G18 protein. (PMID:14656218)
- AGS4-Galpha(i) complexes directly couple to a G-protein-coupled receptor and may serve as substrates for agonist-induced G-protein activation. (PMID:20452976)
- GPSM3 increases Gbeta stability until formation of the Gbetagamma dimer, including association of the Gbeta-GPSM3 complex with phosducin-like protein PhLP and T-complex protein 1 subunit eta (CCT7), two known chaperones of neosynthesized Gbeta subunits. (PMID:22167191)
- Phosphorylation of GPSM3 by a proline-directed serine/threonine kinase and the resultant association of 14-3-3 is the first description of post-translational regulation of GPSM3 subcellular localization (PMID:22843681)
- findings suggest that GPSM3 acts as a direct negative regulator of NLRP3 function. (PMID:25271165)
- Genetic variations in GPSM3 which are associated with protection from rheumatoid arthritis affect its transcript abundance. (PMID:26821282)
- role for GPSM3 in neutrophil migration toward proinflammatory chemoattractants LTB4 and CXCL8-a discovery that helps strengthen the association between the promoter-weakening GPSM3 SNP rs204989 and a reduced risk of rheumatoid arthritis (PMID:27307211)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gpsm3 | ENSMUSG00000034786 |
Paralogs (6): TTC28 (ENSG00000100154), GPSM2 (ENSG00000121957), TTC29 (ENSG00000137473), GPSM1 (ENSG00000160360), RAPSN (ENSG00000165917), TTC24 (ENSG00000187862)
Protein
Protein identifiers
G-protein-signaling modulator 3 — Q9Y4H4 (reviewed: Q9Y4H4)
Alternative names: Activator of G-protein signaling 4, G18.1b, Protein G18
All UniProt accessions (6): A0A024RCP6, E9PIE9, E9PIP3, P78548, Q9Y4H4, Q9Y4H5
UniProt curated annotations — full annotation on UniProt →
Function. Interacts with subunit of G(i) alpha proteins and regulates the activation of G(i) alpha proteins.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in heart, placenta, lung and liver.
Domain organisation. The GoLoco 1 and/or GoLoco 3 domains exhibit GDI activity towards GDP-bound G(i) alpha protein, but not the GoLoco 2 domain.
RefSeq proteins (2): NP_001263430, NP_071390 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003109 | GoLoco_motif | Conserved_site |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR042888 | GPSM3 | Family |
Pfam: PF02188
UniProt features (14 total): modified residue 5, domain 3, compositionally biased region 2, chain 1, mutagenesis site 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y4H4-F1 | 71.77 | 0.24 |
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 (5): 59, 62, 35, 39, 56
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 121 | restores g(i) alpha binding and gdi activity of the goloco 2 domain. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-418594 | G alpha (i) signalling events |
MSigDB gene sets: 240 (showing top):
BROWNE_HCMV_INFECTION_30MIN_DN, GSE45365_NK_CELL_VS_CD11B_DC_DN, AP1_01, GOBP_CELL_CHEMOTAXIS, MODULE_255, GOBP_INFLAMMATORY_RESPONSE, GCM_MSN, MODULE_45, MODULE_317, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, MODULE_16, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS, MODULE_118
GO Biological Process (4): positive regulation of leukocyte chemotaxis (GO:0002690), positive regulation of inflammatory response (GO:0050729), positive regulation of cytokine production involved in inflammatory response (GO:1900017), regulation of inflammatory response (GO:0050727)
GO Molecular Function (2): GTPase regulator activity (GO:0030695), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), plasma membrane (GO:0005886), cellular_component (GO:0005575)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| inflammatory response | 2 |
| positive regulation of leukocyte migration | 1 |
| regulation of leukocyte chemotaxis | 1 |
| leukocyte chemotaxis | 1 |
| positive regulation of chemotaxis | 1 |
| positive regulation of defense response | 1 |
| positive regulation of response to external stimulus | 1 |
| regulation of inflammatory response | 1 |
| positive regulation of cytokine production | 1 |
| cytokine production involved in inflammatory response | 1 |
| regulation of cytokine production involved in inflammatory response | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| GTPase activity | 1 |
| nucleoside-triphosphatase regulator activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1490 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPSM3 | EGFL8 | Q99944 | 721 |
| GPSM3 | SUCLG2 | Q96I99 | 718 |
| GPSM3 | PRRT1 | Q99946 | 641 |
| GPSM3 | GPSM1 | Q86YR5 | 599 |
| GPSM3 | PCP2 | Q8IVA1 | 570 |
| GPSM3 | FGD2 | Q7Z6J4 | 558 |
| GPSM3 | GPSM2 | P81274 | 521 |
| GPSM3 | DXO | O77932 | 447 |
| GPSM3 | FKBPL | Q9UIM3 | 422 |
| GPSM3 | FBP1 | P09467 | 419 |
| GPSM3 | FPR3 | P25089 | 416 |
| GPSM3 | TDRD5 | Q8NAT2 | 402 |
| GPSM3 | LYZ | P00695 | 394 |
| GPSM3 | TCF19 | Q9Y242 | 381 |
| GPSM3 | PBX2 | P40425 | 379 |
IntAct
184 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GPSM3 | GNAI1 | psi-mi:“MI:0915”(physical association) | 0.830 |
| GNAI1 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.830 |
| GPSM3 | GNAI3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| GNAI3 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| YWHAZ | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| GNAI2 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GPSM3 | GNAI2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MEOX2 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TADA2A | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPSM3 | USHBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPSM3 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPSM3 | TADA2A | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEX11 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTAG1A | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM86C1P | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IQCE | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF581 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| P4HA3 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RIPK4 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (90): GPSM3 (Two-hybrid), GPSM3 (Two-hybrid), GPSM3 (Two-hybrid), GPSM3 (Two-hybrid), GPSM3 (Two-hybrid), USHBP1 (Two-hybrid), GPSM3 (Synthetic Growth Defect), GPSM3 (Two-hybrid), GPSM3 (Two-hybrid), GPSM3 (Affinity Capture-Western), GPSM3 (Reconstituted Complex), GPSM3 (Reconstituted Complex), GPSM3 (Two-hybrid), GPSM3 (Two-hybrid), GPSM3 (Two-hybrid)
ESM2 similar proteins: A7YY62, A7Z026, B2RYF1, H3BV60, O12972, O35393, O54951, O70141, O75078, O75864, P01344, P05524, P11487, P23695, P28686, P33717, P42642, P56717, Q00961, Q01098, Q02833, Q06643, Q06AS9, Q14957, Q15768, Q1LZB9, Q3SXP7, Q3U2I3, Q5R8V2, Q5TM22, Q6PCB0, Q862Z7, Q86VR8, Q8BKR5, Q8K4Q6, Q8N612, Q8TAD2, Q8WXS5, Q96FI4, Q96FT7
Diamond homologs: Q3U1Z5, Q6MG88, Q9Y4H4
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GSK3A | “down-regulates quantity by destabilization” | GPSM3 | phosphorylation |
| GPSM3 | “down-regulates activity” | GNAI1 | binding |
| 14-3-3 | “up-regulates quantity by stabilization” | GPSM3 | binding |
| GPSM3 | “down-regulates quantity by destabilization” | GNB1 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 2 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
490 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:32191703:TCTTA:T | donor_loss | 0.9900 |
| 6:32191704:CTTA:C | donor_loss | 0.9900 |
| 6:32191705:TTA:T | donor_loss | 0.9900 |
| 6:32191706:TA:T | donor_loss | 0.9900 |
| 6:32191707:ACCT:A | donor_loss | 0.9900 |
| 6:32191708:C:CT | donor_loss | 0.9900 |
| 6:32191850:C:CT | acceptor_gain | 0.9900 |
| 6:32191866:TCAGT:T | acceptor_gain | 0.9900 |
| 6:32191867:CAGTC:C | acceptor_gain | 0.9900 |
| 6:32192703:T:TA | donor_gain | 0.9900 |
| 6:32191504:C:CC | acceptor_gain | 0.9800 |
| 6:32191707:A:AC | donor_gain | 0.9800 |
| 6:32191708:C:CC | donor_gain | 0.9800 |
| 6:32191867:CAGT:C | acceptor_gain | 0.9800 |
| 6:32191871:C:CC | acceptor_gain | 0.9800 |
| 6:32192468:TCA:T | donor_loss | 0.9800 |
| 6:32192469:CACCT:C | donor_loss | 0.9800 |
| 6:32192470:A:C | donor_loss | 0.9800 |
| 6:32192471:C:A | donor_loss | 0.9800 |
| 6:32191512:G:GC | acceptor_gain | 0.9700 |
| 6:32191868:AGT:A | acceptor_gain | 0.9700 |
| 6:32191868:AGTCT:A | acceptor_loss | 0.9600 |
| 6:32191869:GT:G | acceptor_gain | 0.9600 |
| 6:32191869:GTC:G | acceptor_loss | 0.9600 |
| 6:32191870:TCTGC:T | acceptor_loss | 0.9600 |
| 6:32191871:C:G | acceptor_loss | 0.9600 |
| 6:32191872:T:A | acceptor_loss | 0.9600 |
| 6:32192471:CCTG:C | donor_gain | 0.9600 |
| 6:32192717:C:A | donor_gain | 0.9600 |
| 6:32191873:G:C | acceptor_loss | 0.9500 |
AlphaMissense
1003 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:32191722:A:G | I111T | 0.996 |
| 6:32191722:A:T | I111N | 0.995 |
| 6:32191722:A:C | I111S | 0.992 |
| 6:32191824:A:G | L77P | 0.989 |
| 6:32191433:A:T | L139Q | 0.988 |
| 6:32191846:C:G | A70P | 0.988 |
| 6:32191396:T:A | Q151H | 0.987 |
| 6:32191396:T:G | Q151H | 0.987 |
| 6:32191433:A:G | L139P | 0.986 |
| 6:32191483:C:A | Q122H | 0.986 |
| 6:32191483:C:G | Q122H | 0.986 |
| 6:32191496:C:G | R118P | 0.986 |
| 6:32191828:G:T | R76S | 0.985 |
| 6:32191430:A:G | L140P | 0.983 |
| 6:32191811:C:A | R81S | 0.983 |
| 6:32191811:C:G | R81S | 0.983 |
| 6:32191436:A:G | L138S | 0.982 |
| 6:32191814:C:A | Q80H | 0.981 |
| 6:32191814:C:G | Q80H | 0.981 |
| 6:32191433:A:C | L139R | 0.978 |
| 6:32191709:C:A | Q115H | 0.978 |
| 6:32191709:C:G | Q115H | 0.978 |
| 6:32191719:A:G | L112P | 0.977 |
| 6:32191827:C:G | R76P | 0.977 |
| 6:32191393:C:A | R152S | 0.976 |
| 6:32191393:C:G | R152S | 0.976 |
| 6:32191420:C:A | Q143H | 0.976 |
| 6:32191420:C:G | Q143H | 0.976 |
| 6:32191834:A:G | S74P | 0.975 |
| 6:32191835:C:A | Q73H | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1000931193 (6:32194571 C>A), RS1001796081 (6:32190465 C>G,T), RS1001845749 (6:32196452 A>C,G), RS1002210751 (6:32190532 A>G), RS1002521536 (6:32196692 CTG>C), RS1003586041 (6:32191890 G>A), RS1003978412 (6:32194990 T>G), RS1004293066 (6:32192244 G>A,C), RS1004674647 (6:32190731 C>T), RS1005024340 (6:32190344 G>A), RS1005435146 (6:32196367 G>T), RS1005739658 (6:32193132 C>T), RS1007388429 (6:32195370 G>A,C), RS1007419485 (6:32194933 G>A), RS1009060447 (6:32196665 C>T)
Disease associations
OMIM: gene MIM:618558 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
33 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001709_6 | Atopic dermatitis | 8.000000e-20 |
| GCST001762_173 | Obesity-related traits | 1.000000e-06 |
| GCST001942_21 | Prostate cancer | 5.000000e-09 |
| GCST002737_5 | Atopic dermatitis | 3.000000e-07 |
| GCST004131_25 | Inflammatory bowel disease | 2.000000e-31 |
| GCST004133_79 | Ulcerative colitis | 5.000000e-65 |
| GCST004521_10 | Autism spectrum disorder or schizophrenia | 2.000000e-13 |
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_118 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_13 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_154 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST004521_17 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_170 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_173 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_213 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_226 | Autism spectrum disorder or schizophrenia | 4.000000e-12 |
| GCST004521_276 | Autism spectrum disorder or schizophrenia | 5.000000e-10 |
| GCST004521_296 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_81 | Autism spectrum disorder or schizophrenia | 1.000000e-14 |
| GCST005542_1 | Sarcoidosis (non-Lofgren’s syndrome without extrapulmonary manifestations) | 7.000000e-06 |
| GCST008059_3 | Estimated glomerular filtration rate | 7.000000e-17 |
| GCST008103_66 | Bipolar disorder | 7.000000e-07 |
| GCST008916_27 | Asthma | 5.000000e-31 |
| GCST009107_8 | Body mass index variance | 2.000000e-13 |
| GCST009109_5 | Hip circumference variance | 5.000000e-11 |
| GCST009121_10 | Body mass index | 9.000000e-15 |
| GCST009123_7 | Hip circumference | 3.000000e-24 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004626 | IGFBP-3 measurement |
| EFO:0004340 | body mass index |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| entinostat | increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Diazinon | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| tert-Butylhydroperoxide | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atopic eczema, sarcoidosis