CDC42EP3
gene geneOn this page
Also known as CEP3UB1BORG2
Summary
CDC42EP3 (CDC42 effector protein 3, HGNC:16943) is a protein-coding gene on chromosome 2p22.2, encoding Cdc42 effector protein 3 (Q9UKI2). Probably involved in the organization of the actin cytoskeleton.
This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 10602 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 49 total
- MANE Select transcript:
NM_006449
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16943 |
| Approved symbol | CDC42EP3 |
| Name | CDC42 effector protein 3 |
| Location | 2p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CEP3, UB1, BORG2 |
| Ensembl gene | ENSG00000163171 |
| Ensembl biotype | protein_coding |
| OMIM | 606133 |
| Entrez | 10602 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 24 protein_coding, 1 retained_intron
ENST00000295324, ENST00000422687, ENST00000453555, ENST00000457889, ENST00000494083, ENST00000611976, ENST00000885380, ENST00000885381, ENST00000885382, ENST00000885383, ENST00000885384, ENST00000927367, ENST00000927368, ENST00000927369, ENST00000927370, ENST00000927371, ENST00000956783, ENST00000956784, ENST00000956785, ENST00000956786, ENST00000956787, ENST00000956788, ENST00000956789, ENST00000956790, ENST00000956791
RefSeq mRNA: 6 — MANE Select: NM_006449
NM_001270436, NM_001270437, NM_001270438, NM_001371569, NM_001371570, NM_006449
CCDS: CCDS1791
Canonical transcript exons
ENST00000295324 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001072281 | 37641944 | 37646822 |
| ENSE00001369735 | 37671426 | 37671642 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 97.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 115.5665 / max 2412.6846, expressed in 1752 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27822 | 100.1697 | 1739 |
| 27823 | 8.3194 | 1532 |
| 27810 | 1.7992 | 769 |
| 27827 | 1.4721 | 860 |
| 27825 | 1.3741 | 744 |
| 27816 | 1.0561 | 575 |
| 27824 | 0.5133 | 296 |
| 27826 | 0.3436 | 181 |
| 27813 | 0.1736 | 61 |
| 27814 | 0.1618 | 53 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 97.86 | gold quality |
| monocyte | CL:0000576 | 97.69 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.62 | gold quality |
| mononuclear cell | CL:0000842 | 97.50 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.49 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.39 | gold quality |
| leukocyte | CL:0000738 | 97.37 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 97.08 | gold quality |
| saphenous vein | UBERON:0007318 | 97.06 | gold quality |
| heart right ventricle | UBERON:0002080 | 96.57 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.50 | gold quality |
| myometrium | UBERON:0001296 | 96.26 | gold quality |
| myocardium | UBERON:0002349 | 96.15 | gold quality |
| blood | UBERON:0000178 | 95.92 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.86 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.23 | gold quality |
| decidua | UBERON:0002450 | 95.11 | gold quality |
| adult organism | UBERON:0007023 | 95.07 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.95 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.82 | gold quality |
| urethra | UBERON:0000057 | 94.71 | gold quality |
| body of uterus | UBERON:0009853 | 94.62 | gold quality |
| pericardium | UBERON:0002407 | 94.61 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.61 | gold quality |
| granulocyte | CL:0000094 | 94.22 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.20 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.11 | gold quality |
| vena cava | UBERON:0004087 | 94.06 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 93.94 | gold quality |
| blood vessel layer | UBERON:0004797 | 93.89 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 1454.67 |
| E-MTAB-10287 | yes | 42.22 |
| E-MTAB-9221 | yes | 23.25 |
| E-CURD-112 | yes | 8.60 |
| E-GEOD-135922 | yes | 6.79 |
| E-CURD-46 | yes | 5.10 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
129 targeting CDC42EP3, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
Literature-anchored findings (GeneRIF, showing 7)
- The expression of CDC42EP3 mRNA was significantly increased by 19.7% in dorsal prefrontal cortex in patient with schizophrenia. (PMID:20385374)
- Results provide evidence that Cdc42EP3 function in cancer-associated fibroblasts relies on tight regulation by Cdc42. (PMID:27248291)
- Studies indicate some of the functional and mechanistic roles of the binder of Rho GTPases Borg1-5 proteins (Cdc42EP1-5), including cytoskeletal remodelling and signalling. (PMID:27913681)
- Overactivated Cdc42 acts through Cdc42EP3/Borg2 and NCK to trigger DNA damage response signaling and sensitize cells to DNA-damaging agents. (PMID:32739212)
- CDC42EP3 is a key promoter involved in the development and progression of gastric cancer. (PMID:34111280)
- Deduction of CDC42EP3 suppress development and progression of osteosarcoma. (PMID:34998812)
- CDC42EP3 promotes glioma progression via regulation of CCND1. (PMID:35365622)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdc42ep3 | ENSDARG00000052783 |
| mus_musculus | Cdc42ep3 | ENSMUSG00000036533 |
| rattus_norvegicus | Cdc42ep3 | ENSRNOG00000032136 |
Paralogs (5): CDC42EP1 (ENSG00000128283), CDC42EP2 (ENSG00000149798), CDC42EP5 (ENSG00000167617), CDC42EP4 (ENSG00000179604), C15orf62 (ENSG00000188277)
Protein
Protein identifiers
Cdc42 effector protein 3 — Q9UKI2 (reviewed: Q9UKI2)
Alternative names: Binder of Rho GTPases 2, MSE55-related Cdc42-binding protein
All UniProt accessions (4): Q9UKI2, C9J7F7, C9JEZ4, C9JKW5
UniProt curated annotations — full annotation on UniProt →
Function. Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts.
Subunit / interactions. Interacts with RHOQ and CDC42, in a GTP-dependent manner, and with SEPT7.
Subcellular location. Endomembrane system. Cytoplasm. Cytoskeleton.
Tissue specificity. Highly expressed in the heart and weakly in the brain.
Similarity. Belongs to the BORG/CEP family.
RefSeq proteins (6): NP_001257365, NP_001257366, NP_001257367, NP_001358498, NP_001358499, NP_006440* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000095 | CRIB_dom | Domain |
| IPR029273 | Cdc42_effect-like | Domain |
| IPR051296 | Cdc42_Effector_BORG/CEP | Family |
Pfam: PF00786, PF14957
UniProt features (10 total): modified residue 4, sequence conflict 2, chain 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKI2-F1 | 58.43 | 0.00 |
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 (4): 63, 89, 108, 144
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-5687128 | MAPK6/MAPK4 signaling |
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013406 | RHOQ GTPase cycle |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-5683057 | MAPK family signaling cascades |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 435 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, HNF3ALPHA_Q6, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GCANCTGNY_MYOD_Q6, CHUNG_BLISTER_CYTOTOXICITY_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_MATURE_CELL, TGACCTY_ERR1_Q2, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, NAGASHIMA_NRG1_SIGNALING_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (5): signal transduction (GO:0007165), Rho protein signal transduction (GO:0007266), regulation of cell shape (GO:0008360), positive regulation of actin filament polymerization (GO:0030838), positive regulation of pseudopodium assembly (GO:0031274)
GO Molecular Function (3): cytoskeletal regulatory protein binding (GO:0005519), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), endomembrane system (GO:0012505), actin cytoskeleton (GO:0015629), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 2 |
| Signal Transduction | 2 |
| MAPK family signaling cascades | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| actin filament polymerization | 1 |
| regulation of actin filament polymerization | 1 |
| positive regulation of protein polymerization | 1 |
| positive regulation of cytoskeleton organization | 1 |
| positive regulation of supramolecular fiber organization | 1 |
| pseudopodium assembly | 1 |
| regulation of pseudopodium assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| cytoskeletal protein binding | 1 |
| GTPase binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
750 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDC42EP3 | SKP1 | P34991 | 977 |
| CDC42EP3 | CDC42EP5 | Q6NZY7 | 955 |
| CDC42EP3 | RHOQ | P17081 | 954 |
| CDC42EP3 | CDC42 | P21181 | 724 |
| CDC42EP3 | SEPTIN7 | Q16181 | 662 |
| CDC42EP3 | PLIN2 | Q99541 | 543 |
| CDC42EP3 | ISG15 | P05161 | 532 |
| CDC42EP3 | SEPTIN9 | Q9UHD8 | 522 |
| CDC42EP3 | NPLOC4 | Q8TAT6 | 479 |
| CDC42EP3 | CEBPZ | Q03701 | 476 |
| CDC42EP3 | TMEM51 | Q9NW97 | 471 |
| CDC42EP3 | TP53 | P04637 | 467 |
| CDC42EP3 | PUM2 | Q8TB72 | 443 |
| CDC42EP3 | ZUP1 | Q96AP4 | 419 |
| CDC42EP3 | UBB | P02248 | 419 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDC42EP3 | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| LRRK2 | CDC42EP3 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| COPE | CDC42EP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC42EP3 | DAPK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CDC42EP3 | MFHAS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CDC42EP3 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| CDC42EP3 | LRRK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CDC42EP3 | MON1B | psi-mi:“MI:0915”(physical association) | 0.400 |
| CDC42EP3 | CDC42EP3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COPE | CDC42EP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ftsS | CDC42EP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDC42 | CDC42EP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UMPS | CDC42EP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (32): CDC42EP3 (Two-hybrid), CDC42EP3 (Affinity Capture-RNA), CDC42EP3 (Reconstituted Complex), CDC42EP3 (Reconstituted Complex), CDC42EP3 (Reconstituted Complex), CDC42EP3 (Reconstituted Complex), CDC42EP3 (Two-hybrid), CDC42EP3 (Two-hybrid), CDC42EP3 (Two-hybrid), SEPT7 (Reconstituted Complex), SEPT6 (Reconstituted Complex), CDC42EP3 (Reconstituted Complex), MON1B (Affinity Capture-MS), RHOQ (Reconstituted Complex), CDC42 (Reconstituted Complex)
ESM2 similar proteins: A0A140LFM6, A0A1B0GUA6, A0JMD2, A4IGV6, A6H5Y1, A6NFA0, A6NKB5, A8E653, B3DHS1, D3ZJ47, D3ZMK9, E9Q309, O14513, O60284, P0CAX8, Q1RMQ5, Q32LN6, Q3URK1, Q3UTJ2, Q3ZBS1, Q49A88, Q5DU28, Q5RDK8, Q5REU9, Q5SW75, Q5VT06, Q60664, Q62417, Q642A3, Q68D20, Q6A065, Q6DFB0, Q6NRK3, Q6NWJ0, Q6ZVD7, Q76I79, Q7TSH4, Q8K2J4, Q8K3V7, Q8VEB3
Diamond homologs: A1A5P0, Q00587, Q08DN6, Q17QW1, Q5PQP4, Q6NZY7, Q8JZX9, Q91W92, Q9CQC5, Q9H3Q1, Q9I7F7, Q9JM96, Q9UKI2, Q9Z0X0, O14613
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
670 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:37645829:A:AC | donor_gain | 0.9900 |
| 2:37645830:T:C | donor_gain | 0.9900 |
| 2:37661746:A:C | acceptor_gain | 0.9900 |
| 2:37661748:G:C | acceptor_gain | 0.9900 |
| 2:37672088:G:C | donor_gain | 0.9900 |
| 2:37645789:CCTT:C | donor_gain | 0.9800 |
| 2:37646819:AAACC:A | acceptor_loss | 0.9800 |
| 2:37646820:AACCT:A | acceptor_loss | 0.9800 |
| 2:37646822:CCTG:C | acceptor_loss | 0.9800 |
| 2:37646823:C:T | acceptor_loss | 0.9800 |
| 2:37646824:T:A | acceptor_loss | 0.9800 |
| 2:37661746:A:AC | acceptor_gain | 0.9800 |
| 2:37645825:A:AC | donor_gain | 0.9700 |
| 2:37645826:C:CC | donor_gain | 0.9700 |
| 2:37646818:CAAAC:C | acceptor_gain | 0.9700 |
| 2:37672239:C:A | donor_gain | 0.9700 |
| 2:37661750:A:C | acceptor_gain | 0.9600 |
| 2:37645934:A:AC | donor_gain | 0.9500 |
| 2:37646823:C:CC | acceptor_gain | 0.9500 |
| 2:37661748:G:GC | acceptor_gain | 0.9500 |
| 2:37672280:C:CA | donor_gain | 0.9500 |
| 2:37645941:C:A | donor_gain | 0.9400 |
| 2:37672399:G:A | donor_gain | 0.9400 |
| 2:37645934:AGT:A | donor_gain | 0.9200 |
| 2:37645940:T:A | donor_gain | 0.9100 |
| 2:37645935:G:C | donor_gain | 0.9000 |
| 2:37645900:A:AT | donor_gain | 0.8900 |
| 2:37671422:TCACC:T | donor_loss | 0.8900 |
| 2:37671424:A:AA | donor_loss | 0.8900 |
| 2:37671425:C:G | donor_loss | 0.8900 |
AlphaMissense
1676 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:37646461:G:C | H43D | 1.000 |
| 2:37646492:A:C | S32R | 1.000 |
| 2:37646492:A:T | S32R | 1.000 |
| 2:37646494:T:G | S32R | 1.000 |
| 2:37646496:A:C | I31S | 1.000 |
| 2:37646496:A:T | I31N | 1.000 |
| 2:37646414:A:C | F58L | 0.999 |
| 2:37646414:A:T | F58L | 0.999 |
| 2:37646415:A:G | F58S | 0.999 |
| 2:37646416:A:G | F58L | 0.999 |
| 2:37646427:C:A | G54V | 0.999 |
| 2:37646427:C:T | G54E | 0.999 |
| 2:37646428:C:G | G54R | 0.999 |
| 2:37646428:C:T | G54R | 0.999 |
| 2:37646429:A:C | F53L | 0.999 |
| 2:37646429:A:T | F53L | 0.999 |
| 2:37646431:A:G | F53L | 0.999 |
| 2:37646459:G:C | H43Q | 0.999 |
| 2:37646459:G:T | H43Q | 0.999 |
| 2:37646460:T:C | H43R | 0.999 |
| 2:37646468:G:C | H40Q | 0.999 |
| 2:37646468:G:T | H40Q | 0.999 |
| 2:37646469:T:C | H40R | 0.999 |
| 2:37646470:G:C | H40D | 0.999 |
| 2:37646472:C:G | R39P | 0.999 |
| 2:37646475:A:G | F38S | 0.999 |
| 2:37646496:A:G | I31T | 0.999 |
| 2:37646511:A:T | L26Q | 0.999 |
| 2:37645848:A:G | L247P | 0.998 |
| 2:37645873:C:G | G239R | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000034337 (2:37656820 C>G), RS1000057369 (2:37658888 C>A,G,T), RS1000180105 (2:37663706 G>A), RS1000232460 (2:37663858 C>T), RS1000357113 (2:37668804 G>C), RS1000382904 (2:37674476 C>T), RS1000425580 (2:37674751 G>T), RS1000519326 (2:37662699 A>G), RS1000573118 (2:37662937 G>A), RS1000715474 (2:37673017 A>G), RS1000758365 (2:37671373 GACAGAC>G), RS1000768093 (2:37673308 C>T), RS1001109106 (2:37660543 C>A,T), RS1001152568 (2:37648610 G>A,C), RS1001254147 (2:37674696 A>C)
Disease associations
OMIM: gene MIM:606133 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000817_70 | Height | 2.000000e-18 |
| GCST000892_1 | Total ventricular volume (Alzheimer’s disease interaction) | 2.000000e-06 |
| GCST001956_44 | Height | 2.000000e-08 |
| GCST003542_12 | Night sleep phenotypes | 1.000000e-06 |
| GCST007822_1 | Facial attractiveness (male raters) | 2.000000e-08 |
| GCST007843_3 | Rheumatoid arthritis | 1.000000e-09 |
| GCST008163_388 | Height | 2.000000e-06 |
| GCST008839_226 | Height | 5.000000e-08 |
| GCST008839_513 | Height | 2.000000e-28 |
| GCST008839_521 | Height | 1.000000e-09 |
| GCST010697_38 | Cortical surface area (min-P) | 3.000000e-41 |
| GCST010698_1 | Subcortical volume (min-P) | 4.000000e-08 |
| GCST010699_86 | Brain morphology (min-P) | 6.000000e-14 |
| GCST010700_70 | Cortical thickness (MOSTest) | 8.000000e-09 |
| GCST010701_81 | Cortical surface area (MOSTest) | 5.000000e-09 |
| GCST010702_53 | Subcortical volume (MOSTest) | 2.000000e-12 |
| GCST010703_207 | Brain morphology (MOSTest) | 2.000000e-11 |
| GCST011011_7 | Youthful appearance (self-reported) | 7.000000e-16 |
| GCST011616_43 | Cortical volume | 3.000000e-10 |
| GCST011743_31 | HDL cholesterol levels in HIV infection | 3.000000e-06 |
| GCST90020029_799 | Waist circumference adjusted for body mass index | 2.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009892 | facial attractiveness measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| 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
66 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | affects cotreatment, decreases expression, increases expression | 4 |
| methylmercuric chloride | increases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Progesterone | increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| methylselenic acid | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| corosolic acid | decreases expression | 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 | increases expression, affects cotreatment, decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects cotreatment, decreases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 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.