ARHGAP23
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Also known as KIAA1501
Summary
ARHGAP23 (Rho GTPase activating protein 23, HGNC:29293) is a protein-coding gene on chromosome 17q12, encoding Rho GTPase-activating protein 23 (Q9P227). GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).
Source: NCBI Gene 57636 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 313 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001199417
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29293 |
| Approved symbol | ARHGAP23 |
| Name | Rho GTPase activating protein 23 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1501 |
| Ensembl gene | ENSG00000275832 |
| Ensembl biotype | protein_coding |
| OMIM | 610590 |
| Entrez | 57636 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000614693, ENST00000616767, ENST00000616909, ENST00000617798, ENST00000618325, ENST00000618942, ENST00000619156, ENST00000620325, ENST00000620329, ENST00000620417, ENST00000622683, ENST00000633445
RefSeq mRNA: 1 — MANE Select: NM_001199417
NM_001199417
CCDS: CCDS56027
Canonical transcript exons
ENST00000610551 — 0 exons
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 97.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.6965 / max 739.2196, expressed in 1472 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160485 | 15.2917 | 1382 |
| 160489 | 5.9869 | 1153 |
| 160488 | 5.6180 | 1146 |
| 160483 | 1.9308 | 346 |
| 160487 | 0.6105 | 450 |
| 160484 | 0.1507 | 73 |
| 160490 | 0.0604 | 17 |
| 160493 | 0.0474 | 6 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 97.35 | gold quality |
| corpus callosum | UBERON:0002336 | 97.28 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.82 | gold quality |
| substantia nigra | UBERON:0002038 | 95.08 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.68 | gold quality |
| skin of leg | UBERON:0001511 | 94.46 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.45 | gold quality |
| cortical plate | UBERON:0005343 | 94.42 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.28 | gold quality |
| cerebellum | UBERON:0002037 | 94.26 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.22 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.20 | gold quality |
| zone of skin | UBERON:0000014 | 94.18 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.06 | gold quality |
| temporal lobe | UBERON:0001871 | 93.87 | gold quality |
| amygdala | UBERON:0001876 | 93.85 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.71 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.49 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.14 | gold quality |
| putamen | UBERON:0001874 | 92.90 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.90 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.72 | gold quality |
| esophagus | UBERON:0001043 | 92.67 | gold quality |
| hypothalamus | UBERON:0001898 | 92.57 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.50 | gold quality |
| frontal cortex | UBERON:0001870 | 92.47 | gold quality |
| placenta | UBERON:0001987 | 92.40 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.38 | gold quality |
| popliteal artery | UBERON:0002250 | 92.32 | gold quality |
| tibial artery | UBERON:0007610 | 92.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
81 targeting ARHGAP23, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arhgap23a | ENSDARG00000052950 |
| mus_musculus | Arhgap23 | ENSMUSG00000049807 |
| rattus_norvegicus | Arhgap23 | ENSRNOG00000022771 |
| drosophila_melanogaster | RhoGAP19D | FBGN0031118 |
| caenorhabditis_elegans | WBGENE00015418 |
Paralogs (1): ARHGAP21 (ENSG00000107863)
Protein
Protein identifiers
Rho GTPase-activating protein 23 — Q9P227 (reviewed: Q9P227)
Alternative names: Rho-type GTPase-activating protein 23
All UniProt accessions (9): Q9P227, A0A087WTU4, A0A087WXU2, A0A087WZ73, A0A087WZZ2, A0A087X0Z0, A0A087X1W6, A0A9L9PXQ2, A0A9L9PXS4
UniProt curated annotations — full annotation on UniProt →
Function. GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Tissue specificity. Expressed in placenta, prostate, hippocampus and brain medulla. Also expressed in brain tumor, salivary gland tumor, head and neck tumor.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P227-1 | 1 | yes |
| Q9P227-2 | 2 |
RefSeq proteins (1): NP_001186346* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000198 | RhoGAP_dom | Domain |
| IPR001478 | PDZ | Domain |
| IPR001849 | PH_domain | Domain |
| IPR008936 | Rho_GTPase_activation_prot | Homologous_superfamily |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR041489 | PDZ_6 | Domain |
| IPR041681 | PH_9 | Domain |
Pfam: PF00620, PF15410, PF17820
UniProt features (31 total): modified residue 11, region of interest 8, compositionally biased region 4, domain 3, splice variant 2, chain 1, site 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P227-F1 | 49.82 | 0.16 |
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): 942 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)
Post-translational modifications (12): 361, 372, 423, 517, 583, 611, 623, 656, 659, 662, 677, 854
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8980692 | RHOA GTPase cycle |
| R-HSA-9013149 | RAC1 GTPase cycle |
MSigDB gene sets: 104 (showing top):
MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, CERVERA_SDHB_TARGETS_1_UP, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, BOCHKIS_FOXA2_TARGETS, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, LIU_PROSTATE_CANCER_DN, BAKKER_FOXO3_TARGETS_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, REACTOME_RHO_GTPASE_CYCLE, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN
GO Biological Process (2): signal transduction (GO:0007165), regulation of small GTPase mediated signal transduction (GO:0051056)
GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)
GO Cellular Component (2): cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| 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 intracellular signal transduction | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
694 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARHGAP23 | CCDC85C | A6NKD9 | 605 |
| ARHGAP23 | PRICKLE1 | Q96MT3 | 592 |
| ARHGAP23 | CCDC85A | Q96PX6 | 576 |
| ARHGAP23 | ZNF541 | Q9H0D2 | 528 |
| ARHGAP23 | CCDC51 | Q96ER9 | 508 |
| ARHGAP23 | RASA1 | P20936 | 497 |
| ARHGAP23 | SRCIN1 | Q9C0H9 | 489 |
| ARHGAP23 | ARHGAP21 | Q5T5U3 | 470 |
| ARHGAP23 | PLEK2 | Q9NYT0 | 468 |
| ARHGAP23 | PLEK | P08567 | 454 |
| ARHGAP23 | CCDC85B | Q15834 | 421 |
| ARHGAP23 | GPR137C | Q8N3F9 | 397 |
| ARHGAP23 | TCP11L2 | Q8N4U5 | 387 |
| ARHGAP23 | SOCS4 | Q8WXH5 | 379 |
| ARHGAP23 | SOCS7 | O14512 | 378 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK2B | NMT2 | psi-mi:“MI:0914”(association) | 0.660 |
| ASF1B | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| YWHAQ | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| ABCC4 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGEF16 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ASIC3 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATP2B4 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYSLTR2 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKK | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGAP23 | DGKZ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DOCK4 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD4 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD7 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGAP23 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| E6 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ORF putative E6 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNA5 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KIR3DL3 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP2K2 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PBK | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RALBP1 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC15A5 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLCO1C1 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TJP2 | ARHGAP23 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (69): ARHGAP23 (Affinity Capture-MS), ARHGAP23 (Proximity Label-MS), ARHGAP23 (Affinity Capture-MS), ARHGAP23 (Affinity Capture-MS), ARHGAP23 (Affinity Capture-RNA), ARHGAP23 (Proximity Label-MS), ARHGAP23 (Affinity Capture-MS), ARHGAP23 (FRET), ARHGAP23 (FRET), ARHGAP23 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), CTNNA1 (Affinity Capture-MS), FASTKD1 (Affinity Capture-MS), GSPT1 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS)
ESM2 similar proteins: A1L1I3, A5PKW4, O08919, O70405, O75385, O75420, O75553, P16554, P42128, P49757, P53814, P85037, P97318, P98081, Q04637, Q2LC84, Q3UCQ1, Q4KMP7, Q5DTT2, Q5I1X5, Q5RBR0, Q5VZ18, Q69ZH9, Q69ZI1, Q7TN02, Q7Z6J0, Q80VC9, Q80XI3, Q80Z38, Q86V15, Q8BGT6, Q8BHL3, Q8BSD5, Q8C120, Q8CI12, Q8IY33, Q8K4J6, Q8N3F8, Q8TEH3, Q8TEJ3
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
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ARHGAP23 | “down-regulates activity” | RHOA | “gtpase-activating protein” |
| ARHGAP23 | “down-regulates activity” | RAC1 | “gtpase-activating protein” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 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 |
|---|---|---|---|
| Apoptosis | 5 | 25.4× | 2e-04 |
| RHOG GTPase cycle | 5 | 22.5× | 2e-04 |
| Programmed Cell Death | 5 | 22.2× | 2e-04 |
| CDC42 GTPase cycle | 6 | 13.1× | 2e-04 |
| RAC1 GTPase cycle | 5 | 9.2× | 3e-03 |
| Signaling by Rho GTPases | 6 | 6.2× | 4e-03 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 6 | 6.1× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of small GTPase mediated signal transduction | 5 | 16.4× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
313 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 288 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4545 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:38458261:AAGG:A | donor_loss | 1.0000 |
| 17:38458262:AGG:A | donor_loss | 1.0000 |
| 17:38458264:GT:G | donor_loss | 1.0000 |
| 17:38458265:T:G | donor_loss | 1.0000 |
| 17:38463112:CCCCA:C | acceptor_loss | 1.0000 |
| 17:38463113:CCCA:C | acceptor_loss | 1.0000 |
| 17:38463114:CCAG:C | acceptor_loss | 1.0000 |
| 17:38463115:CAG:C | acceptor_loss | 1.0000 |
| 17:38463116:A:AG | acceptor_gain | 1.0000 |
| 17:38463117:G:GG | acceptor_gain | 1.0000 |
| 17:38463117:GGA:G | acceptor_gain | 1.0000 |
| 17:38463194:TAGGT:T | donor_loss | 1.0000 |
| 17:38463195:AGGT:A | donor_loss | 1.0000 |
| 17:38463196:GGT:G | donor_loss | 1.0000 |
| 17:38463197:G:C | donor_loss | 1.0000 |
| 17:38463197:G:GG | donor_gain | 1.0000 |
| 17:38463325:TAGTG:T | acceptor_loss | 1.0000 |
| 17:38463326:A:AG | acceptor_gain | 1.0000 |
| 17:38463326:A:C | acceptor_loss | 1.0000 |
| 17:38463326:AGT:A | acceptor_gain | 1.0000 |
| 17:38463327:G:GT | acceptor_gain | 1.0000 |
| 17:38463327:GT:G | acceptor_gain | 1.0000 |
| 17:38463327:GTG:G | acceptor_gain | 1.0000 |
| 17:38463327:GTGAT:G | acceptor_gain | 1.0000 |
| 17:38466160:T:TA | acceptor_gain | 1.0000 |
| 17:38467330:TGGT:T | donor_loss | 1.0000 |
| 17:38467331:GGT:G | donor_loss | 1.0000 |
| 17:38467332:G:GG | donor_gain | 1.0000 |
| 17:38467332:G:T | donor_loss | 1.0000 |
| 17:38467333:T:G | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000003840 (17:38446317 G>A), RS1000035807 (17:38428991 C>T), RS1000119538 (17:38485790 C>T), RS1000131812 (17:38480941 T>C), RS1000176129 (17:38419556 G>A), RS1000228825 (17:38512560 A>C), RS1000242894 (17:38491803 A>G), RS1000300631 (17:38440212 T>C), RS1000328513 (17:38470241 C>T), RS1000395896 (17:38507750 T>G), RS1000418974 (17:38424901 T>C), RS1000433289 (17:38480625 C>A,T), RS1000449980 (17:38423163 C>T), RS1000481215 (17:38437979 A>AG), RS1000508338 (17:38466788 G>A)
Disease associations
OMIM: gene MIM:610590 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): microcephaly (MONDO:0001149)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001941_16 | Ovarian cancer | 8.000000e-10 |
| GCST004613_62 | Sum neutrophil eosinophil counts | 6.000000e-10 |
| GCST004614_58 | Granulocyte count | 7.000000e-10 |
| GCST004626_141 | Myeloid white cell count | 2.000000e-10 |
| GCST012485_14 | Cerebral amyloid angiopathy x sex interaction in Alzheimer’s disease | 1.000000e-05 |
| GCST90002393_519 | Monocyte count | 1.000000e-09 |
| GCST90002398_269 | Neutrophil count | 1.000000e-11 |
| GCST90002404_161 | Red cell distribution width | 1.000000e-12 |
| GCST90002407_130 | White blood cell count | 1.000000e-13 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0008343 | sex interaction measurement |
| EFO:0005091 | monocyte count |
| EFO:0009188 | Red cell distribution width |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Particulate Matter | decreases expression, increases abundance, increases expression, affects cotreatment | 4 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, increases expression | 3 |
| Aflatoxin B1 | decreases methylation, increases expression, affects methylation | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects cotreatment, increases methylation, affects methylation | 1 |
| testosterone undecanoate | affects cotreatment, increases expression | 1 |
| cinnamaldehyde | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| muconaldehyde | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| MT19c compound | decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
Clinical trials (associated diseases)
17 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05518188 | PHASE1/PHASE2 | RECRUITING | Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt) |
| NCT00001639 | Not specified | COMPLETED | Evaluation of Patients With Unresolved Chromosome Abnormalities |
| NCT01151462 | Not specified | WITHDRAWN | Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. |
| NCT01565005 | Not specified | COMPLETED | Microcephaly Genetic Deficiency in Neural Progenitors |
| NCT02510170 | Not specified | COMPLETED | Fetal and Maternal Head Circumference During Pregnancy in Israeli Population |
| NCT02741882 | Not specified | COMPLETED | Zika and Microcephaly: Case-control Study |
| NCT02943304 | Not specified | COMPLETED | Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero |
| NCT03255369 | Not specified | UNKNOWN | Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF) |
| NCT03325946 | Not specified | RECRUITING | The FBRI VTC Neuromotor Research Clinic |
| NCT03330600 | Not specified | COMPLETED | Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome |
| NCT03548779 | Not specified | COMPLETED | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 |
| NCT03651687 | Not specified | COMPLETED | Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM) |
| NCT03922594 | Not specified | TERMINATED | Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia |
| NCT04816175 | Not specified | COMPLETED | Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay |
| NCT05322980 | Not specified | COMPLETED | Summary of Infants Weighing 500 Grams or Less |
| NCT06019182 | Not specified | RECRUITING | MEHMO Natural History and Biomarkers |
| NCT06566066 | Not specified | RECRUITING | Register for Patients With Thyroid Hormone Resistance. |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebral amyloid angiopathy