GMIP
gene geneOn this page
Also known as ARHGAP46
Summary
GMIP (GEM interacting protein, HGNC:24852) is a protein-coding gene on chromosome 19p13.11, encoding GEM-interacting protein (Q9P107). Stimulates, in vitro and in vivo, the GTPase activity of RhoA.
This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51291 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 148 total
- MANE Select transcript:
NM_016573
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24852 |
| Approved symbol | GMIP |
| Name | GEM interacting protein |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARHGAP46 |
| Ensembl gene | ENSG00000089639 |
| Ensembl biotype | protein_coding |
| OMIM | 609694 |
| Entrez | 51291 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000203556, ENST00000586269, ENST00000587205, ENST00000587238, ENST00000587713, ENST00000588171, ENST00000591047, ENST00000593186, ENST00000905971, ENST00000905972, ENST00000916819, ENST00000940889
RefSeq mRNA: 3 — MANE Select: NM_016573
NM_001288998, NM_001288999, NM_016573
CCDS: CCDS12408, CCDS74318
Canonical transcript exons
ENST00000203556 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000570774 | 19633803 | 19634190 |
| ENSE00000691710 | 19630471 | 19630537 |
| ENSE00000691725 | 19634507 | 19634703 |
| ENSE00000691728 | 19635415 | 19635569 |
| ENSE00000691730 | 19635644 | 19635721 |
| ENSE00000691737 | 19637365 | 19637561 |
| ENSE00000691741 | 19637920 | 19638057 |
| ENSE00000951836 | 19638159 | 19638329 |
| ENSE00001113554 | 19629476 | 19630336 |
| ENSE00001224467 | 19643511 | 19643657 |
| ENSE00003459213 | 19640085 | 19640192 |
| ENSE00003472256 | 19635025 | 19635213 |
| ENSE00003497923 | 19636707 | 19636796 |
| ENSE00003519935 | 19641810 | 19641867 |
| ENSE00003522423 | 19640446 | 19640571 |
| ENSE00003523507 | 19636917 | 19637029 |
| ENSE00003570429 | 19638402 | 19638482 |
| ENSE00003579702 | 19640296 | 19640360 |
| ENSE00003583669 | 19642535 | 19642619 |
| ENSE00003607933 | 19641976 | 19642051 |
| ENSE00003639746 | 19634792 | 19634929 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 97.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9896 / max 1234.6092, expressed in 1774 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180164 | 16.6171 | 1774 |
| 180163 | 0.3482 | 169 |
| 180161 | 0.0243 | 18 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 97.46 | gold quality |
| blood | UBERON:0000178 | 95.56 | gold quality |
| monocyte | CL:0000576 | 95.14 | gold quality |
| leukocyte | CL:0000738 | 95.02 | gold quality |
| mononuclear cell | CL:0000842 | 94.91 | gold quality |
| spleen | UBERON:0002106 | 93.27 | gold quality |
| vermiform appendix | UBERON:0001154 | 91.89 | gold quality |
| lymph node | UBERON:0000029 | 90.26 | gold quality |
| bone marrow cell | CL:0002092 | 90.22 | gold quality |
| caecum | UBERON:0001153 | 89.09 | gold quality |
| cortical plate | UBERON:0005343 | 87.45 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.92 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.45 | gold quality |
| right lung | UBERON:0002167 | 85.80 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 85.68 | gold quality |
| bone marrow | UBERON:0002371 | 85.17 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 84.45 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.15 | gold quality |
| gall bladder | UBERON:0002110 | 83.89 | gold quality |
| sural nerve | UBERON:0015488 | 83.86 | gold quality |
| small intestine | UBERON:0002108 | 83.85 | gold quality |
| upper lobe of lung | UBERON:0008948 | 83.51 | gold quality |
| rectum | UBERON:0001052 | 82.54 | gold quality |
| superficial temporal artery | UBERON:0001614 | 82.44 | gold quality |
| tonsil | UBERON:0002372 | 82.30 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.86 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.45 | gold quality |
| transverse colon | UBERON:0001157 | 81.41 | gold quality |
| body of stomach | UBERON:0001161 | 81.29 | gold quality |
| periodontal ligament | UBERON:0008266 | 81.17 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.17 |
| E-MTAB-6142 | no | 94.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting GMIP, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-4725-5P | 98.67 | 65.42 | 628 |
| HSA-MIR-504-5P | 98.67 | 65.40 | 631 |
| HSA-MIR-4701-5P | 96.45 | 68.41 | 1121 |
| HSA-MIR-588 | 96.45 | 68.36 | 1127 |
| HSA-MIR-1291 | 96.28 | 65.89 | 1224 |
| HSA-MIR-6775-3P | 95.76 | 65.91 | 982 |
Literature-anchored findings (GeneRIF, showing 4)
- signalling pathways controlled by two proteins of the Ras superfamily, RhoA and Gem, are linked via the action of the RhoGAP protein Gmip (PMID:12093360)
- Variations in the GMIP gene can confer susceptibility to major depressive disorder. (PMID:16086184)
- during exocytosis, actin depolymerization commences near the secretory organelle, not the plasma membrane, and secretory granules use a JFC1- and GMIP-dependent molecular mechanism to traverse cortical actin. (PMID:22438581)
- These findings demonstrate a new role of Gem/Gmip/RhoA signaling in cortical actin regulation during early mitotic stages (PMID:25173885)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gmip | ENSDARG00000077249 |
| mus_musculus | Gmip | ENSMUSG00000036246 |
| rattus_norvegicus | Gmip | ENSRNOG00000027257 |
| caenorhabditis_elegans | WBGENE00014051 |
Paralogs (2): ARHGAP29 (ENSG00000137962), ARHGAP45 (ENSG00000180448)
Protein
Protein identifiers
GEM-interacting protein — Q9P107 (reviewed: Q9P107)
All UniProt accessions (5): Q9P107, A0A024R7N1, K7EJC2, K7ELE8, K7EQR5
UniProt curated annotations — full annotation on UniProt →
Function. Stimulates, in vitro and in vivo, the GTPase activity of RhoA.
Subunit / interactions. Interacts with GEM through its N-terminal.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P107-1 | 1 | yes |
| Q9P107-2 | 2 |
RefSeq proteins (3): NP_001275927, NP_001275928, NP_057657* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000198 | RhoGAP_dom | Domain |
| IPR002219 | PKC_DAG/PE | Domain |
| IPR008936 | Rho_GTPase_activation_prot | Homologous_superfamily |
| IPR027267 | AH/BAR_dom_sf | Homologous_superfamily |
| IPR031160 | F_BAR_dom | Domain |
| IPR046349 | C1-like_sf | Homologous_superfamily |
| IPR051025 | RhoGAP | Family |
| IPR054713 | GMIP/FCHO2-like_FCH | Domain |
Pfam: PF00620, PF22699
UniProt features (44 total): modified residue 13, compositionally biased region 8, helix 7, region of interest 5, sequence conflict 3, domain 2, chain 1, site 1, zinc finger region 1, splice variant 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3QWE | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P107-F1 | 70.02 | 0.48 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 587 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)
Post-translational modifications (13): 19, 71, 231, 234, 243, 437, 441, 660, 885, 907, 914, 919, 923
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-8980692 | RHOA GTPase cycle |
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013149 | RAC1 GTPase cycle |
MSigDB gene sets: 142 (showing top):
GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MORI_IMMATURE_B_LYMPHOCYTE_UP, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GNF2_MCL1, GNF2_ICAM3, GNF2_S100A4, GNF2_MYD88, GNF2_HCK, DANG_BOUND_BY_MYC, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, AP2GAMMA_01
GO Biological Process (5): small GTPase-mediated signal transduction (GO:0007264), intracellular signal transduction (GO:0035556), regulation of small GTPase mediated signal transduction (GO:0051056), negative regulation of small GTPase mediated signal transduction (GO:0051058), signal transduction (GO:0007165)
GO Molecular Function (4): GTPase activator activity (GO:0005096), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 3 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| small GTPase-mediated signal transduction | 2 |
| cellular anatomical structure | 2 |
| intracellular signaling cassette | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| regulation of small GTPase mediated signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1138 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GMIP | RHOA | P06749 | 690 |
| GMIP | SYTL1 | Q8IYJ3 | 682 |
| GMIP | RAB27A | P51159 | 555 |
| GMIP | YJEFN3 | A6XGL0 | 475 |
| GMIP | AKNA | Q7Z591 | 456 |
| GMIP | ZNF101 | Q8IZC7 | 434 |
| GMIP | MYRIP | Q8NFW9 | 430 |
| GMIP | LARS2 | Q15031 | 410 |
| GMIP | ATP13A1 | Q9HD20 | 406 |
| GMIP | TTC21A | Q8NDW8 | 388 |
| GMIP | STARD13 | Q9Y3M8 | 388 |
| GMIP | YRDC | Q86U90 | 367 |
| GMIP | BORCS8 | Q96FH0 | 364 |
| GMIP | ZNF14 | P17017 | 355 |
| GMIP | CELSR3 | Q9NYQ7 | 345 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARHGAP45 | GMIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| GMIP | ACAD8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ADGRG2 | CFAP69 | psi-mi:“MI:0914”(association) | 0.350 |
| PRPS2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CTAG1A | DPYSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| CTAG1A | PER1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35E1 | IPO8 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP45 | GMIP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): GMIP (Co-fractionation), GMIP (Affinity Capture-MS), GMIP (Affinity Capture-MS), GMIP (Affinity Capture-MS), HMHA1 (Two-hybrid), GMIP (Two-hybrid), GEM (Affinity Capture-Western), GMIP (FRET), GMIP (FRET), GMIP (FRET), EBNA1BP2 (Affinity Capture-MS), FLOT1 (Affinity Capture-MS), LRPAP1 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), PSPC1 (Affinity Capture-MS)
ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A6QP29, B1AVH7, B2RUP2, B5DFA1, D2H0G5, D3ZFJ3, O15068, O55043, P00530, P07332, P14238, P16879, P55194, P98171, Q0GNC1, Q14155, Q15052, Q27J81, Q3U5C8, Q3UMR0, Q58EX7, Q5VV41, Q5XXR3, Q5ZLR6, Q60I26, Q63406, Q64096, Q6PFY1, Q6PGG2, Q70J99, Q7TNH6, Q80TT2, Q80VK6, Q86WN1, Q8C2K1, Q8C6B2, Q8CJ00
Diamond homologs: A0A0G2JTR4, A1A4S6, A2AB59, A2RUV4, A4IF90, A4II46, A6QNS3, A6X8Z5, A7KAX9, A7YY57, A8WRJ2, D3ZFJ3, E7EZG2, E7F3F0, F1LXF1, O14559, O94466, P11274, P15882, P30337, P34288, P38339, P46941, P52757, P55194, P81128, P97393, Q03070, Q08DP6, Q10164, Q12979, Q13017, Q15311, Q17QN0, Q20498, Q2M1Z3, Q3TBD2, Q3UIA2, Q52LW3, Q53QZ3
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GMIP | “down-regulates activity” | RHOA | “gtpase-activating protein” |
| GMIP | “down-regulates activity” | RAC1 | “gtpase-activating protein” |
| GMIP | “down-regulates activity” | CDC42 | “gtpase-activating protein” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
148 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 122 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2772 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:19630467:TCA:T | donor_loss | 1.0000 |
| 19:19630468:CA:C | donor_loss | 1.0000 |
| 19:19630469:A:AT | donor_loss | 1.0000 |
| 19:19630533:GGAAT:G | acceptor_gain | 1.0000 |
| 19:19630534:GAAT:G | acceptor_gain | 1.0000 |
| 19:19630536:AT:A | acceptor_gain | 1.0000 |
| 19:19630537:TC:T | acceptor_loss | 1.0000 |
| 19:19630538:C:CA | acceptor_loss | 1.0000 |
| 19:19630538:C:CC | acceptor_gain | 1.0000 |
| 19:19634186:CCACC:C | acceptor_gain | 1.0000 |
| 19:19634187:CACC:C | acceptor_gain | 1.0000 |
| 19:19634187:CACCC:C | acceptor_gain | 1.0000 |
| 19:19634189:CC:C | acceptor_gain | 1.0000 |
| 19:19634190:CC:C | acceptor_gain | 1.0000 |
| 19:19634191:C:CC | acceptor_gain | 1.0000 |
| 19:19634790:ACCT:A | donor_gain | 1.0000 |
| 19:19634791:CCTC:C | donor_gain | 1.0000 |
| 19:19634793:T:TA | donor_gain | 1.0000 |
| 19:19634927:GCCC:G | acceptor_loss | 1.0000 |
| 19:19634928:CCCT:C | acceptor_loss | 1.0000 |
| 19:19634930:CTGC:C | acceptor_loss | 1.0000 |
| 19:19634931:T:C | acceptor_loss | 1.0000 |
| 19:19635086:T:TA | donor_gain | 1.0000 |
| 19:19635416:T:TA | donor_gain | 1.0000 |
| 19:19635422:CA:C | donor_gain | 1.0000 |
| 19:19635429:T:TA | donor_gain | 1.0000 |
| 19:19635570:C:CC | acceptor_gain | 1.0000 |
| 19:19636913:TCACC:T | donor_loss | 1.0000 |
| 19:19636914:CACCT:C | donor_loss | 1.0000 |
| 19:19636915:A:AC | donor_gain | 1.0000 |
AlphaMissense
6244 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:19635495:G:C | H494D | 0.998 |
| 19:19634161:A:G | M705T | 0.997 |
| 19:19634910:C:T | G590E | 0.997 |
| 19:19634929:C:G | G584R | 0.997 |
| 19:19635198:G:C | H526D | 0.997 |
| 19:19635423:A:G | C518R | 0.997 |
| 19:19635462:A:G | C505R | 0.997 |
| 19:19635493:G:C | H494Q | 0.997 |
| 19:19635493:G:T | H494Q | 0.997 |
| 19:19635503:G:T | A491D | 0.997 |
| 19:19638445:C:G | R192P | 0.997 |
| 19:19634807:C:A | K624N | 0.996 |
| 19:19634807:C:G | K624N | 0.996 |
| 19:19634923:A:C | Y586D | 0.996 |
| 19:19635063:A:G | C571R | 0.996 |
| 19:19635164:C:T | C537Y | 0.996 |
| 19:19635189:A:G | C529R | 0.996 |
| 19:19635213:A:G | C521R | 0.996 |
| 19:19635461:C:G | C505S | 0.996 |
| 19:19635462:A:T | C505S | 0.996 |
| 19:19634513:A:G | L693P | 0.995 |
| 19:19634919:C:G | R587P | 0.995 |
| 19:19635164:C:G | C537S | 0.995 |
| 19:19635165:A:T | C537S | 0.995 |
| 19:19635188:C:G | C529S | 0.995 |
| 19:19635189:A:T | C529S | 0.995 |
| 19:19635196:G:C | H526Q | 0.995 |
| 19:19635196:G:T | H526Q | 0.995 |
| 19:19635422:C:G | C518S | 0.995 |
| 19:19635423:A:T | C518S | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000014813 (19:19630685 C>G,T), RS1000299919 (19:19643617 AGCCGCCGCCGCC>A,AGCC,AGCCGCC,AGCCGCCGCC,AGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCCGCC), RS1000351996 (19:19643709 T>C), RS1000869474 (19:19635878 T>C), RS1001159277 (19:19629719 C>T), RS1001262398 (19:19642907 G>A,C), RS1001423984 (19:19629399 T>C), RS1001605626 (19:19642700 G>A), RS1001850018 (19:19637187 T>C), RS1002159601 (19:19641432 G>A,C), RS1002212002 (19:19641738 G>A), RS1002300955 (19:19637519 G>A,T), RS1002689684 (19:19640630 C>G,T), RS1002917251 (19:19644822 G>A,C), RS1003102951 (19:19645101 C>G)
Disease associations
OMIM: gene MIM:609694 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002149_11 | Schizophrenia | 3.000000e-09 |
| GCST008074_33 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-39 |
| GCST008074_98 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 8.000000e-44 |
| GCST008076_31 | Triglyceride levels | 4.000000e-14 |
| GCST008076_59 | Triglyceride levels | 1.000000e-20 |
| GCST008077_11 | LDL cholesterol levels | 6.000000e-12 |
| GCST008077_62 | LDL cholesterol levels | 1.000000e-10 |
| GCST008078_133 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-193 |
| GCST008078_96 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 5.000000e-226 |
| GCST008079_115 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 6.000000e-39 |
| GCST008079_47 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 4.000000e-31 |
| GCST008083_106 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 5.000000e-40 |
| GCST008083_142 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 7.000000e-47 |
| GCST008086_19 | LDL cholesterol levels in current drinkers | 8.000000e-20 |
| GCST008086_80 | LDL cholesterol levels in current drinkers | 2.000000e-21 |
| GCST008087_118 | Triglyceride levels in current drinkers | 1.000000e-23 |
| GCST008087_75 | Triglyceride levels in current drinkers | 4.000000e-22 |
| GCST008103_10 | Bipolar disorder | 1.000000e-09 |
| GCST008115_2 | Bipolar I disorder | 3.000000e-09 |
| GCST008116_4 | Bipolar II disorder | 4.000000e-06 |
| GCST009600_14 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 1.000000e-09 |
| GCST010002_52 | Refractive error | 4.000000e-29 |
| GCST90002379_198 | Basophil count | 1.000000e-18 |
| GCST90002380_13 | Basophil percentage of white cells | 3.000000e-17 |
| GCST90002389_401 | Lymphocyte percentage of white cells | 3.000000e-10 |
| GCST90002399_231 | Neutrophil percentage of white cells | 1.000000e-13 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0009963 | bipolar I disorder |
| EFO:0009964 | bipolar II disorder |
| EFO:0005090 | basophil count |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Nickel | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression, increases methylation | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| muconaldehyde | decreases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | decreases expression | 1 |
| thifluzamide | decreases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
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.