CDC42EP4
gene geneOn this page
Also known as CEP4KAIA1777BORG4MGC3740MGC17125
Summary
CDC42EP4 (CDC42 effector protein 4, HGNC:17147) is a protein-coding gene on chromosome 17q25.1, encoding Cdc42 effector protein 4 (Q9H3Q1). Probably involved in the organization of the actin cytoskeleton.
The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control.
Source: NCBI Gene 23580 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 85 total — 1 pathogenic
- MANE Select transcript:
NM_012121
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17147 |
| Approved symbol | CDC42EP4 |
| Name | CDC42 effector protein 4 |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CEP4, KAIA1777, BORG4, MGC3740, MGC17125 |
| Ensembl gene | ENSG00000179604 |
| Ensembl biotype | protein_coding |
| OMIM | 605468 |
| Entrez | 23580 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 13 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000335793, ENST00000439510, ENST00000578516, ENST00000579611, ENST00000580315, ENST00000581014, ENST00000581045, ENST00000582303, ENST00000858293, ENST00000858294, ENST00000858295, ENST00000858296, ENST00000858297, ENST00000858298, ENST00000943416, ENST00000943417
RefSeq mRNA: 1 — MANE Select: NM_012121
NM_012121
CCDS: CCDS11695
Canonical transcript exons
ENST00000335793 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001432603 | 73283624 | 73286612 |
| ENSE00002710895 | 73311893 | 73312001 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 98.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.7125 / max 258.3081, expressed in 1750 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 167908 | 30.1295 | 1741 |
| 167906 | 1.2645 | 834 |
| 167905 | 0.6874 | 373 |
| 167907 | 0.5830 | 350 |
| 167904 | 0.0282 | 11 |
| 167903 | 0.0200 | 9 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cranial nerve II | UBERON:0000941 | 98.82 | gold quality |
| paraflocculus | UBERON:0005351 | 98.62 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.69 | gold quality |
| left uterine tube | UBERON:0001303 | 96.67 | gold quality |
| ventricular zone | UBERON:0003053 | 96.38 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 95.57 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.53 | gold quality |
| medial globus pallidus | UBERON:0002477 | 95.29 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.19 | gold quality |
| globus pallidus | UBERON:0001875 | 95.17 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.13 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.09 | gold quality |
| right ovary | UBERON:0002118 | 95.03 | gold quality |
| nipple | UBERON:0002030 | 94.85 | gold quality |
| left ovary | UBERON:0002119 | 94.84 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.82 | gold quality |
| pericardium | UBERON:0002407 | 94.72 | gold quality |
| putamen | UBERON:0001874 | 94.64 | gold quality |
| peritoneum | UBERON:0002358 | 94.59 | gold quality |
| omental fat pad | UBERON:0010414 | 94.59 | gold quality |
| trachea | UBERON:0003126 | 94.58 | gold quality |
| cerebellar vermis | UBERON:0004720 | 94.57 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.55 | gold quality |
| ovary | UBERON:0000992 | 94.46 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.39 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 94.32 | gold quality |
| body of pancreas | UBERON:0001150 | 94.31 | gold quality |
| type B pancreatic cell | CL:0000169 | 94.27 | silver quality |
| endocervix | UBERON:0000458 | 94.27 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.24 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9435 | yes | 369.67 |
| E-GEOD-137537 | yes | 34.68 |
| E-MTAB-7316 | yes | 31.49 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
87 targeting CDC42EP4, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-6758-3P | 99.57 | 67.55 | 1078 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
Literature-anchored findings (GeneRIF, showing 3)
- This study showed that CDC42EP4 messenger RNA levels was significantly upregulated in subjects with schizophrenia in laminar and cellular samples. (PMID:25981171)
- 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)
- Cell division cycle 42 effector protein 4 inhibits prostate cancer progression by suppressing ERK signaling pathway. (PMID:38153517)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdc42ep4b | ENSDARG00000045036 |
| danio_rerio | cdc42ep4a | ENSDARG00000101457 |
| mus_musculus | Cdc42ep4 | ENSMUSG00000041598 |
| rattus_norvegicus | Cdc42ep4 | ENSRNOG00000028946 |
Paralogs (5): CDC42EP1 (ENSG00000128283), CDC42EP2 (ENSG00000149798), CDC42EP3 (ENSG00000163171), CDC42EP5 (ENSG00000167617), C15orf62 (ENSG00000188277)
Protein
Protein identifiers
Cdc42 effector protein 4 — Q9H3Q1 (reviewed: Q9H3Q1)
Alternative names: Binder of Rho GTPases 4
All UniProt accessions (5): B2R6D8, Q9H3Q1, J3KRZ9, J3QQS6, J3QR93
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, when overexpressed in fibroblasts.
Subunit / interactions. Interacts with CDC42 and RHOQ, in a GTP-dependent manner.
Subcellular location. Endomembrane system. Cytoplasm. Cytoskeleton.
Tissue specificity. Not detected in any of the adult tissues tested. May be expressed only in fetal or embryonic tissues.
Similarity. Belongs to the BORG/CEP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H3Q1-1 | 1 | yes |
| Q9H3Q1-2 | 2 |
RefSeq proteins (1): NP_036253* (*=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 (30 total): modified residue 12, compositionally biased region 6, sequence conflict 6, region of interest 3, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H3Q1-F1 | 58.67 | 0.05 |
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 (12): 5, 18, 64, 105, 109, 118, 138, 140, 142, 174, 292, 295
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013404 | RAC2 GTPase cycle |
| R-HSA-9013406 | RHOQ GTPase cycle |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 262 (showing top):
GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_RESPONSE_TO_PEPTIDE, PEREZ_TP63_TARGETS, TAL1ALPHAE47_01, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, BLALOCK_ALZHEIMERS_DISEASE_UP
GO Biological Process (5): 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), cellular response to type II interferon (GO:0071346)
GO Molecular Function (3): RNA binding (GO:0003723), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (10): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), adherens junction (GO:0005912), endomembrane system (GO:0012505), actin cytoskeleton (GO:0015629), microtubule cytoskeleton (GO:0015630), phagocytic vesicle (GO:0045335), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 4 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoskeleton | 2 |
| 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 |
| response to type II interferon | 1 |
| cellular response to cytokine stimulus | 1 |
| nucleic acid binding | 1 |
| GTPase binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| endocytic vesicle | 1 |
Protein interactions and networks
STRING
690 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDC42EP4 | RHOQ | P17081 | 951 |
| CDC42EP4 | CDC42 | P21181 | 830 |
| CDC42EP4 | CDC42BPB | Q9Y5S2 | 562 |
| CDC42EP4 | PROSER2 | Q86WR7 | 499 |
| CDC42EP4 | CCDC102A | Q96A19 | 495 |
| CDC42EP4 | CDC42SE1 | Q9NRR8 | 473 |
| CDC42EP4 | CDC42SE2 | Q9NRR3 | 450 |
| CDC42EP4 | SEPTIN7 | Q16181 | 435 |
| CDC42EP4 | CMIP | Q8IY22 | 435 |
| CDC42EP4 | WDPCP | O95876 | 423 |
| CDC42EP4 | SERTAD2 | Q14140 | 411 |
| CDC42EP4 | WHAMM | Q8TF30 | 410 |
| CDC42EP4 | BAIAP2L1 | Q9UHR4 | 407 |
| CDC42EP4 | SEPTIN6 | Q14141 | 401 |
| CDC42EP4 | ARHGEF3 | Q9NR81 | 394 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HOMER1 | TRAF5 | psi-mi:“MI:0914”(association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CDC42EP4 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.670 |
| FAM9B | CDC42EP4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| HTT | CDC42EP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RTN4IP1 | HEXIM1 | psi-mi:“MI:0914”(association) | 0.530 |
| CDC42EP4 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.530 |
| RBFA | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| CDC42EP4 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| SRPK1 | CDC42EP4 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| SPRY2 | CDC42EP4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PCNA | CDC42EP4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDC42EP4 | PA | psi-mi:“MI:0915”(physical association) | 0.370 |
| WDR6 | CDC42EP4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Kctd5 | psi-mi:“MI:0914”(association) | 0.350 | |
| Septin9 | SEPTIN8 | psi-mi:“MI:0914”(association) | 0.350 |
| Septin2 | SEPTIN8 | psi-mi:“MI:0914”(association) | 0.350 |
| Septin7 | SEPTIN8 | psi-mi:“MI:0914”(association) | 0.350 |
| CDC42EP4 | SEPTIN4 | psi-mi:“MI:0914”(association) | 0.350 |
| CDC42 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.350 |
| POLR1D | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (131): FAM9B (Two-hybrid), CDC42EP4 (Affinity Capture-MS), SEPT4 (Affinity Capture-MS), SEPT2 (Affinity Capture-MS), SEPT7 (Affinity Capture-MS), SEPT5 (Affinity Capture-MS), SEPT6 (Affinity Capture-MS), SEPT8 (Affinity Capture-MS), SEPT11 (Affinity Capture-MS), SEPT9 (Affinity Capture-MS), SEPT3 (Affinity Capture-MS), KLHL15 (Affinity Capture-MS), SEPT10 (Affinity Capture-MS), YBEY (Affinity Capture-MS), FHL2 (Affinity Capture-MS)
ESM2 similar proteins: A0A098DPY0, A0A0D1DRJ3, A0A194W8T8, A0A3G1DJJ7, A4R227, A6RHW0, A7KAN7, B0XXN8, G1XLI4, G4NDR3, J9VT33, O13412, O13415, O13508, P10071, P17429, P19970, P37938, P53289, Q01115, Q01582, Q01631, Q09033, Q0U6W8, Q10060, Q1K8E7, Q2GW22, Q4I5R3, Q4P328, Q4PFA7, Q4WXK4, Q4WXY0, Q5AYT1, Q5IS56, Q6BWK6, Q6C449, Q6MW04, Q6MW50, Q6SW99, Q74ZL3
Diamond homologs: A1A5P0, Q00587, Q08DN6, Q17QW1, Q5PQP4, Q6NZY7, Q8JZX9, Q91W92, Q9CQC5, Q9H3Q1, Q9I7F7, Q9JM96, Q9UKI2, Q9Z0X0, O14613
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCA | “down-regulates activity” | CDC42EP4 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 54 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| RHO GTPase Effectors | 6 | 12.0× | 2e-04 |
| SARS-CoV Infections | 5 | 8.2× | 2e-03 |
| Signaling by Rho GTPases | 7 | 7.0× | 4e-04 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 7 | 6.9× | 4e-04 |
| Infectious disease | 7 | 5.1× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 6 | 13.4× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2685607 | GRCh37/hg19 17q24.3-25.1(chr17:69501527-71380722)x1 | Pathogenic |
SpliceAI
440 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:73286608:TAAGG:T | acceptor_gain | 1.0000 |
| 17:73286613:C:CC | acceptor_gain | 1.0000 |
| 17:73286610:AGG:A | acceptor_gain | 0.9900 |
| 17:73286611:GG:G | acceptor_gain | 0.9900 |
| 17:73286611:GGCTG:G | acceptor_loss | 0.9900 |
| 17:73286612:GCT:G | acceptor_loss | 0.9900 |
| 17:73286613:C:CG | acceptor_loss | 0.9900 |
| 17:73286614:T:A | acceptor_loss | 0.9900 |
| 17:73286609:AAGG:A | acceptor_gain | 0.9800 |
| 17:73286576:A:T | acceptor_gain | 0.9700 |
| 17:73311888:CCTA:C | donor_loss | 0.9700 |
| 17:73311889:CTAC:C | donor_loss | 0.9700 |
| 17:73311890:TAC:T | donor_loss | 0.9700 |
| 17:73311891:ACC:A | donor_loss | 0.9700 |
| 17:73311892:C:CT | donor_loss | 0.9700 |
| 17:73310880:CCGG:C | donor_gain | 0.9600 |
| 17:73286620:C:CT | acceptor_gain | 0.9500 |
| 17:73286621:A:T | acceptor_gain | 0.9500 |
| 17:73310873:GCACT:G | donor_loss | 0.9400 |
| 17:73310874:CACTC:C | donor_loss | 0.9400 |
| 17:73310875:ACTC:A | donor_loss | 0.9400 |
| 17:73310876:CT:C | donor_loss | 0.9400 |
| 17:73310877:TCACC:T | donor_loss | 0.9400 |
| 17:73310878:CACC:C | donor_loss | 0.9400 |
| 17:73310879:A:C | donor_loss | 0.9400 |
| 17:73310880:C:G | donor_loss | 0.9400 |
| 17:73310872:GGCAC:G | donor_loss | 0.9300 |
| 17:73311862:C:CT | donor_gain | 0.9300 |
| 17:73310879:A:AC | donor_gain | 0.9200 |
| 17:73310880:C:CC | donor_gain | 0.9200 |
AlphaMissense
2320 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:73286345:G:C | F52L | 1.000 |
| 17:73286345:G:T | F52L | 1.000 |
| 17:73286346:A:C | F52C | 1.000 |
| 17:73286346:A:G | F52S | 1.000 |
| 17:73286347:A:G | F52L | 1.000 |
| 17:73286358:C:T | G48E | 1.000 |
| 17:73286360:A:C | F47L | 1.000 |
| 17:73286360:A:T | F47L | 1.000 |
| 17:73286361:A:C | F47C | 1.000 |
| 17:73286362:A:G | F47L | 1.000 |
| 17:73286382:A:T | V40D | 1.000 |
| 17:73286386:G:C | H39D | 1.000 |
| 17:73286395:G:C | H36D | 1.000 |
| 17:73286400:A:G | F34S | 1.000 |
| 17:73286421:A:T | I27N | 1.000 |
| 17:73285860:C:T | G214E | 0.999 |
| 17:73285861:C:G | G214R | 0.999 |
| 17:73285861:C:T | G214R | 0.999 |
| 17:73286159:C:A | K114N | 0.999 |
| 17:73286159:C:G | K114N | 0.999 |
| 17:73286343:A:G | L53P | 0.999 |
| 17:73286343:A:T | L53H | 0.999 |
| 17:73286355:T:C | D49G | 0.999 |
| 17:73286358:C:A | G48V | 0.999 |
| 17:73286359:C:A | G48W | 0.999 |
| 17:73286359:C:G | G48R | 0.999 |
| 17:73286359:C:T | G48R | 0.999 |
| 17:73286361:A:G | F47S | 0.999 |
| 17:73286380:C:G | G41R | 0.999 |
| 17:73286384:G:C | H39Q | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000004200 (17:73288556 C>G,T), RS1000379924 (17:73291834 T>C), RS1000427596 (17:73308784 C>T), RS1000562866 (17:73297869 G>A), RS1000689724 (17:73303729 T>C), RS1000859444 (17:73310244 C>T), RS1000912962 (17:73297678 A>G), RS1001035948 (17:73299826 C>A), RS1001347478 (17:73293384 T>C), RS1001443245 (17:73287822 G>A), RS1001451352 (17:73287993 C>T), RS1001603712 (17:73312601 C>T), RS1001669645 (17:73297430 C>T), RS1001819156 (17:73313690 A>G), RS1001841075 (17:73293704 A>T)
Disease associations
OMIM: gene MIM:605468 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases expression, affects expression | 2 |
| Air Pollutants | increases oxidation, decreases expression, affects cotreatment, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Valproic Acid | decreases expression, increases methylation, affects expression | 2 |
| Cyclosporine | decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| chloropicrin | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Demecolcine | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1MX | Abcam HeLa CDC42EP4 KO | Cancer cell line | Female |
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.