RILPL2
gene geneOn this page
Also known as MGC7036FLJ30380FLJ32372
Summary
RILPL2 (Rab interacting lysosomal protein like 2, HGNC:28787) is a protein-coding gene on chromosome 12q24.31, encoding RILP-like protein 2 (Q969X0). Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines.
This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 196383 — RefSeq curated summary.
At a glance
- GWAS associations: 25
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_145058
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28787 |
| Approved symbol | RILPL2 |
| Name | Rab interacting lysosomal protein like 2 |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC7036, FLJ30380, FLJ32372 |
| Ensembl gene | ENSG00000150977 |
| Ensembl biotype | protein_coding |
| OMIM | 614093 |
| Entrez | 196383 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay
ENST00000280571, ENST00000718482, ENST00000718483, ENST00000718484, ENST00000718485, ENST00000884090, ENST00000884091
RefSeq mRNA: 1 — MANE Select: NM_145058
NM_145058
CCDS: CCDS9248
Canonical transcript exons
ENST00000280571 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000996988 | 123423044 | 123423157 |
| ENSE00001100430 | 123415039 | 123415921 |
| ENSE00001432183 | 123430508 | 123430659 |
| ENSE00004035230 | 123436082 | 123436684 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 97.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.8441 / max 3220.8405, expressed in 1806 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133946 | 19.8767 | 1707 |
| 133947 | 7.4839 | 1097 |
| 133948 | 6.0828 | 1543 |
| 133949 | 1.6371 | 822 |
| 133950 | 0.7637 | 515 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 97.60 | gold quality |
| vena cava | UBERON:0004087 | 95.53 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.15 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.01 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.95 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 94.66 | gold quality |
| body of tongue | UBERON:0011876 | 94.66 | gold quality |
| saphenous vein | UBERON:0007318 | 94.64 | gold quality |
| tongue | UBERON:0001723 | 94.62 | gold quality |
| pons | UBERON:0000988 | 94.16 | gold quality |
| superior surface of tongue | UBERON:0007371 | 94.15 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.08 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.94 | silver quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.79 | gold quality |
| tibia | UBERON:0000979 | 93.78 | gold quality |
| trachea | UBERON:0003126 | 93.73 | gold quality |
| bronchus | UBERON:0002185 | 93.35 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.32 | gold quality |
| lower lobe of lung | UBERON:0008949 | 93.13 | gold quality |
| pericardium | UBERON:0002407 | 93.00 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.83 | gold quality |
| urethra | UBERON:0000057 | 92.80 | gold quality |
| myocardium | UBERON:0002349 | 92.15 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 91.83 | gold quality |
| monocyte | CL:0000576 | 91.57 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.53 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.46 | gold quality |
| caput epididymis | UBERON:0004358 | 91.34 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.28 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.18 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 34.96 |
| E-MTAB-9467 | yes | 17.75 |
| E-ANND-3 | yes | 15.13 |
| E-GEOD-135922 | yes | 10.49 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
51 targeting RILPL2, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-5009-3P | 99.45 | 69.43 | 1341 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-145-3P | 99.33 | 67.66 | 764 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-488-5P | 99.28 | 68.12 | 821 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
Literature-anchored findings (GeneRIF, showing 3)
- Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2. (PMID:32017888)
- LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade. (PMID:33727250)
- Prognostic value of RILPL2 and its correlation with tumor immune microenvironment and glycolysis in non-small cell lung cancer. (PMID:36536539)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rilpl2 | ENSDARG00000024818 |
| mus_musculus | Rilpl2 | ENSMUSG00000029401 |
| rattus_norvegicus | Rilpl2 | ENSRNOG00000001061 |
| drosophila_melanogaster | Rilpl | FBGN0024985 |
| caenorhabditis_elegans | WBGENE00007860 |
Paralogs (4): DZIP1 (ENSG00000134874), DZIP1L (ENSG00000158163), RILP (ENSG00000167705), RILPL1 (ENSG00000188026)
Protein
Protein identifiers
RILP-like protein 2 — Q969X0 (reviewed: Q969X0)
Alternative names: Rab-interacting lysosomal protein-like 2, p40phox-binding protein
All UniProt accessions (1): Q969X0
UniProt curated annotations — full annotation on UniProt →
Function. Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines. Plays a role in cellular protein transport, including protein transport away from primary cilia. May function via activation of RAC1 and PAK1.
Subunit / interactions. Homodimer. Interacts with RAC1. Interacts (via N-terminus) with MYO5A, the interaction is required for its role in dendrite formation. Interacts with RAB8A; interaction is dependent on the phosphorylation of RAB8A on ‘Thr-72’. Interacts with RAB10 and RAB12; interaction is dependent on the phosphorylation of ‘Thr-73’ on RAB10 and ‘Ser-105’ on RAB12.
Subcellular location. Cytoplasm. Cytosol. Cytoskeleton. Microtubule organizing center. Centrosome. Cell projection. Cilium.
Tissue specificity. Widely expressed. Expressed at higher level in lung.
Similarity. Belongs to the RILPL family.
RefSeq proteins (1): NP_659495* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR021563 | RILP_dimer | Domain |
| IPR034743 | RH1 | Domain |
| IPR034744 | RH2 | Domain |
| IPR051241 | DZIP_RILPL | Family |
Pfam: PF09744, PF11461
UniProt features (12 total): mutagenesis site 3, domain 2, region of interest 2, chain 1, helix 1, coiled-coil region 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6SQ2 | X-RAY DIFFRACTION | 1.68 |
| 6RIR | X-RAY DIFFRACTION | 1.77 |
| 7LWB | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969X0-F1 | 77.73 | 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): 107
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 149 | loss of interaction with rab8a, rab10 and rab12. |
| 130 | loss of interaction with rab8a, rab10 and rab12. |
| 132 | loss of interaction with rab8a, rab10 and rab12. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 224 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOMF_GTPASE_BINDING, CHANDRAN_METASTASIS_DN, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOCC_MICROTUBULE_ORGANIZING_CENTER, MARTINEZ_RB1_TARGETS_DN, KOYAMA_SEMA3B_TARGETS_UP, GOBP_CILIUM_ORGANIZATION, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOCC_CENTROSOME, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE
GO Biological Process (4): epithelial cell morphogenesis (GO:0003382), cilium assembly (GO:0060271), protein transport from ciliary membrane to plasma membrane (GO:1903445), protein transport (GO:0015031)
GO Molecular Function (5): small GTPase binding (GO:0031267), identical protein binding (GO:0042802), protein dimerization activity (GO:0046983), dynein light intermediate chain binding (GO:0051959), protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), cilium (GO:0005929), membrane (GO:0016020), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| protein binding | 3 |
| microtubule organizing center | 2 |
| cell morphogenesis | 1 |
| epithelial cell development | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| protein transport within lipid bilayer | 1 |
| establishment of protein localization to plasma membrane | 1 |
| protein localization to plasma membrane | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| GTPase binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| cytoplasm | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cilium | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
522 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RILPL2 | RAB8A | P24407 | 928 |
| RILPL2 | RAB10 | P61026 | 919 |
| RILPL2 | RAB36 | O95755 | 731 |
| RILPL2 | RAB29 | O14966 | 714 |
| RILPL2 | PPM1H | Q9ULR3 | 707 |
| RILPL2 | RAB12 | Q6IQ22 | 668 |
| RILPL2 | RILP | Q96NA2 | 623 |
| RILPL2 | RAB35 | Q15286 | 602 |
| RILPL2 | RHAG | Q02094 | 564 |
| RILPL2 | MYO5A | Q9Y4I1 | 521 |
| RILPL2 | EHBP1L1 | Q8N3D4 | 501 |
| RILPL2 | RAB3A | P20336 | 484 |
| RILPL2 | RAB8B | Q92930 | 479 |
| RILPL2 | MITD1 | Q8WV92 | 471 |
| RILPL2 | MAPK8IP3 | Q9UPT6 | 452 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAB8A | RILPL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RILPL2 | RAB8A | psi-mi:“MI:0914”(association) | 0.720 |
| RILPL2 | RAB8A | psi-mi:“MI:0915”(physical association) | 0.720 |
| RILPL2 | RAB8A | psi-mi:“MI:0407”(direct interaction) | 0.720 |
| RAB8A | psi-mi:“MI:0407”(direct interaction) | 0.680 | |
| RILPL2 | RILPL2 | psi-mi:“MI:0407”(direct interaction) | 0.660 |
| RILPL2 | RILPL2 | psi-mi:“MI:0915”(physical association) | 0.660 |
| RAB8A | WDR91 | psi-mi:“MI:0914”(association) | 0.600 |
| RILPL2 | RAB10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RILPL2 | psi-mi:“MI:0915”(physical association) | 0.490 | |
| RILPL2 | psi-mi:“MI:0915”(physical association) | 0.490 | |
| RILPL2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| RILPL2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CAND1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| WHAMMP3 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| FRAT2 | GSK3A | psi-mi:“MI:0914”(association) | 0.350 |
| WHAMMP3 | CCDC22 | psi-mi:“MI:0914”(association) | 0.350 |
| N | RILPL2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RILPL2 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| sgrR | RILPL2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TUBB4A | RILPL2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HEXD | RILPL2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (11): RILPL2 (Affinity Capture-RNA), RILPL2 (Two-hybrid), RILPL2 (Affinity Capture-Western), RILPL2 (Synthetic Growth Defect), RILPL2 (Two-hybrid), RILPL2 (Two-hybrid), RILPL2 (Proximity Label-MS), RILPL2 (Affinity Capture-MS), RILPL2 (Affinity Capture-MS), RILPL2 (Affinity Capture-MS), RILPL2 (Affinity Capture-MS)
ESM2 similar proteins: A0PJP4, A0PJT0, A2VDP1, A4IFK7, D3ZUQ0, E9PSL7, O14578, O75665, P0C219, P49025, P97817, Q01850, Q0IHE5, Q14BN4, Q17QG3, Q28623, Q3LGD4, Q3SYW5, Q3URD3, Q3V079, Q4R3X1, Q4R7Y8, Q58A65, Q5DTM8, Q5EBL4, Q5R5R4, Q5VTR2, Q5ZJA3, Q5ZLS3, Q62172, Q62796, Q68CZ1, Q6AYA0, Q6DFC2, Q6DH86, Q6NRH3, Q6ZUS6, Q7Z3E2, Q86VS8, Q8BR07
Diamond homologs: A0PJP4, A0PJT0, A4IFK7, A4IGC3, D3ZUQ0, O76878, Q0IHE5, Q0P4J3, Q17QG3, Q5EBL4, Q6AYA0, Q6IP02, Q969X0, Q99LE1, Q9JJC6, Q5ND29
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
661 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:123423039:CTTA:C | donor_loss | 1.0000 |
| 12:123423041:TA:T | donor_loss | 1.0000 |
| 12:123423042:A:AC | donor_gain | 1.0000 |
| 12:123423042:A:C | donor_loss | 1.0000 |
| 12:123423042:ACAG:A | donor_gain | 1.0000 |
| 12:123423043:C:CG | donor_gain | 1.0000 |
| 12:123423043:CA:C | donor_gain | 1.0000 |
| 12:123423043:CAG:C | donor_gain | 1.0000 |
| 12:123423043:CAGC:C | donor_gain | 1.0000 |
| 12:123423043:CAGCT:C | donor_gain | 1.0000 |
| 12:123423153:GGCCA:G | acceptor_gain | 1.0000 |
| 12:123423154:GCCA:G | acceptor_gain | 1.0000 |
| 12:123423155:CCA:C | acceptor_gain | 1.0000 |
| 12:123423155:CCAC:C | acceptor_gain | 1.0000 |
| 12:123423156:CA:C | acceptor_gain | 1.0000 |
| 12:123423156:CAC:C | acceptor_gain | 1.0000 |
| 12:123423157:AC:A | acceptor_loss | 1.0000 |
| 12:123423158:C:CC | acceptor_gain | 1.0000 |
| 12:123423166:C:CT | acceptor_gain | 1.0000 |
| 12:123423167:G:T | acceptor_gain | 1.0000 |
| 12:123430509:T:TA | donor_gain | 1.0000 |
| 12:123430529:T:TA | donor_gain | 1.0000 |
| 12:123430536:C:CT | donor_gain | 1.0000 |
| 12:123436080:ACCT:A | donor_gain | 1.0000 |
| 12:123436080:ACCTC:A | donor_gain | 1.0000 |
| 12:123436081:CCT:C | donor_gain | 1.0000 |
| 12:123436081:CCTC:C | donor_gain | 1.0000 |
| 12:123436081:CCTCC:C | donor_gain | 1.0000 |
| 12:123436125:T:TA | donor_gain | 1.0000 |
| 12:123423037:CACT:C | donor_loss | 0.9900 |
AlphaMissense
1368 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:123430600:G:C | F133L | 0.999 |
| 12:123430600:G:T | F133L | 0.999 |
| 12:123430602:A:G | F133L | 0.999 |
| 12:123430601:A:G | F133S | 0.998 |
| 12:123430565:C:G | R145P | 0.997 |
| 12:123430586:A:G | L138P | 0.996 |
| 12:123430556:A:G | L148P | 0.994 |
| 12:123430601:A:C | F133C | 0.993 |
| 12:123430566:G:T | R145S | 0.990 |
| 12:123430574:A:G | L142P | 0.989 |
| 12:123436223:G:C | F66L | 0.989 |
| 12:123436223:G:T | F66L | 0.989 |
| 12:123436225:A:G | F66L | 0.989 |
| 12:123430544:A:G | L152P | 0.987 |
| 12:123430602:A:T | F133I | 0.987 |
| 12:123436266:A:G | L52P | 0.986 |
| 12:123430602:A:C | F133V | 0.985 |
| 12:123436275:C:T | G49D | 0.985 |
| 12:123430552:C:A | K149N | 0.984 |
| 12:123430552:C:G | K149N | 0.984 |
| 12:123436197:A:G | L75P | 0.984 |
| 12:123436215:A:T | V69D | 0.984 |
| 12:123436276:C:G | G49R | 0.984 |
| 12:123436230:A:G | L64P | 0.983 |
| 12:123436287:G:A | S45F | 0.982 |
| 12:123430523:A:G | L159P | 0.980 |
| 12:123436206:A:G | L72P | 0.979 |
| 12:123436299:A:T | V41E | 0.978 |
| 12:123436314:A:G | L36P | 0.976 |
| 12:123436209:A:T | V71D | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1000040163 (12:123413593 G>A), RS1000058549 (12:123435052 C>G,T), RS1000114010 (12:123419160 A>G), RS1000122889 (12:123425863 A>G), RS1000186067 (12:123420625 C>A,T), RS1000240873 (12:123425540 G>A), RS1000306582 (12:123431118 A>G), RS1000335617 (12:123431438 G>A), RS1000460951 (12:123424813 G>A), RS1000508748 (12:123414394 G>A), RS1000550861 (12:123419318 C>T), RS1000642430 (12:123430340 C>A,T), RS1000673547 (12:123430377 C>T), RS1000725896 (12:123438034 G>A), RS1000744524 (12:123435260 C>T)
Disease associations
OMIM: gene MIM:614093 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
25 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002149_20 | Schizophrenia | 2.000000e-08 |
| GCST002539_19 | Schizophrenia | 2.000000e-14 |
| GCST002598_15 | Educational attainment | 7.000000e-08 |
| GCST004521_72 | Autism spectrum disorder or schizophrenia | 8.000000e-12 |
| GCST004627_145 | Lymphocyte count | 6.000000e-13 |
| GCST005956_10 | Waist-to-hip ratio adjusted for BMI | 6.000000e-08 |
| GCST005958_11 | Waist-to-hip ratio adjusted for BMI (age >50) | 4.000000e-07 |
| GCST005962_22 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-08 |
| GCST006005_21 | High density lipoprotein cholesterol levels | 2.000000e-09 |
| GCST006803_10 | Schizophrenia | 6.000000e-16 |
| GCST007277_17 | Tourette syndrome | 2.000000e-06 |
| GCST008163_151 | Height | 5.000000e-08 |
| GCST010703_43 | Brain morphology (MOSTest) | 1.000000e-08 |
| GCST012227_570 | Hip circumference adjusted for BMI | 4.000000e-09 |
| GCST90011898_12 | Alanine aminotransferase levels | 2.000000e-15 |
| GCST90020024_447 | A body shape index | 1.000000e-15 |
| GCST90020024_448 | A body shape index | 7.000000e-09 |
| GCST90020025_412 | Waist-to-hip ratio adjusted for BMI | 4.000000e-09 |
| GCST90020025_418 | Waist-to-hip ratio adjusted for BMI | 1.000000e-20 |
| GCST90020025_419 | Waist-to-hip ratio adjusted for BMI | 1.000000e-13 |
| GCST90020025_420 | Waist-to-hip ratio adjusted for BMI | 4.000000e-10 |
| GCST90020027_1218 | Waist-hip index | 3.000000e-19 |
| GCST90020027_1219 | Waist-hip index | 5.000000e-13 |
| GCST90020027_1220 | Waist-hip index | 4.000000e-10 |
| GCST90020029_370 | Waist circumference adjusted for body mass index | 3.000000e-13 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004784 | self reported educational attainment |
| EFO:0004587 | lymphocyte count |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, increases expression, decreases expression, affects expression | 4 |
| Valproic Acid | increases expression, affects expression | 4 |
| Cyclosporine | decreases expression | 3 |
| Acetaminophen | decreases expression, affects response to substance | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Norethindrone Acetate | increases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Cosmetics | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Flame Retardants | affects cotreatment, increases expression | 1 |
| Plasticizers | affects cotreatment, increases expression | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Quercetin | decreases 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.