ARHGAP33
geneOn this page
Also known as FLJ39019TCGAP
Summary
ARHGAP33 (Rho GTPase activating protein 33, HGNC:23085) is a protein-coding gene on chromosome 19q13.12, encoding Rho GTPase-activating protein 33 (O14559). May be involved in several stages of intracellular trafficking.
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene.
Source: NCBI Gene 115703 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 210 total — 1 pathogenic
- MANE Select transcript:
NM_001366178
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23085 |
| Approved symbol | ARHGAP33 |
| Name | Rho GTPase activating protein 33 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ39019, TCGAP |
| Ensembl gene | ENSG00000004777 |
| Ensembl biotype | protein_coding |
| OMIM | 614902 |
| Entrez | 115703 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 4 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000007510, ENST00000221905, ENST00000314737, ENST00000378944, ENST00000586918, ENST00000587984, ENST00000588248, ENST00000589133, ENST00000590893, ENST00000591438, ENST00000593034, ENST00000601474
RefSeq mRNA: 3 — MANE Select: NM_001366178
NM_001172630, NM_001366178, NM_052948
CCDS: CCDS12477, CCDS54254, CCDS92599
Canonical transcript exons
ENST00000007510 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000699235 | 35787168 | 35788822 |
| ENSE00000699237 | 35786413 | 35787072 |
| ENSE00000699423 | 35781150 | 35781252 |
| ENSE00000699426 | 35780920 | 35781072 |
| ENSE00000699429 | 35780421 | 35780498 |
| ENSE00000862841 | 35784953 | 35785106 |
| ENSE00001272823 | 35780757 | 35780816 |
| ENSE00001272831 | 35780582 | 35780648 |
| ENSE00001272918 | 35780211 | 35780333 |
| ENSE00003475112 | 35782762 | 35782869 |
| ENSE00003525507 | 35775564 | 35775664 |
| ENSE00003547991 | 35784172 | 35784317 |
| ENSE00003549758 | 35782373 | 35782517 |
| ENSE00003553477 | 35785189 | 35785334 |
| ENSE00003665226 | 35785409 | 35785483 |
| ENSE00003696229 | 35777824 | 35777908 |
| ENSE00003697304 | 35782597 | 35782679 |
| ENSE00003701213 | 35778464 | 35778601 |
| ENSE00003701934 | 35778280 | 35778360 |
| ENSE00003702413 | 35777645 | 35777742 |
| ENSE00003756824 | 35779032 | 35779124 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 98.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2073 / max 263.4675, expressed in 1345 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175405 | 7.5895 | 1315 |
| 175404 | 0.3090 | 134 |
| 175406 | 0.1763 | 76 |
| 175403 | 0.1325 | 53 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.52 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.86 | gold quality |
| ventricular zone | UBERON:0003053 | 97.67 | gold quality |
| right uterine tube | UBERON:0001302 | 97.50 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.93 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.43 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.41 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.02 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.89 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.70 | gold quality |
| right testis | UBERON:0004534 | 95.32 | gold quality |
| left testis | UBERON:0004533 | 95.31 | gold quality |
| right ovary | UBERON:0002118 | 95.20 | gold quality |
| pituitary gland | UBERON:0000007 | 94.81 | gold quality |
| left ovary | UBERON:0002119 | 94.79 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.44 | gold quality |
| spinal cord | UBERON:0002240 | 94.12 | gold quality |
| amygdala | UBERON:0001876 | 93.52 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.11 | gold quality |
| cerebellum | UBERON:0002037 | 93.10 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.90 | gold quality |
| body of uterus | UBERON:0009853 | 92.72 | gold quality |
| endocervix | UBERON:0000458 | 92.52 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.52 | gold quality |
| tibial nerve | UBERON:0001323 | 92.38 | gold quality |
| testis | UBERON:0000473 | 92.32 | gold quality |
| putamen | UBERON:0001874 | 92.24 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.23 | gold quality |
| type B pancreatic cell | CL:0000169 | 92.19 | silver quality |
| sural nerve | UBERON:0015488 | 91.77 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6142 | no | 32.80 |
| E-ANND-3 | no | 2.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting ARHGAP33, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-409-3P | 99.50 | 66.33 | 1192 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-7851-3P | 98.72 | 64.88 | 980 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-6755-3P | 98.61 | 66.90 | 834 |
| HSA-MIR-7114-3P | 98.42 | 66.53 | 569 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
| HSA-MIR-1180-5P | 98.16 | 65.32 | 460 |
| HSA-MIR-490-3P | 97.79 | 65.54 | 606 |
| HSA-MIR-203B-5P | 97.24 | 68.54 | 543 |
| HSA-MIR-6718-5P | 97.24 | 68.15 | 553 |
| HSA-MIR-6515-5P | 97.08 | 65.48 | 1219 |
Literature-anchored findings (GeneRIF, showing 3)
- TCGAP interacts with Fyn and is phosphorylated by Fyn, with tyrosine-406 in the GTPase-activating protein (GAP) domain as a major Fyn-mediated phosphorylation site. (PMID:16777849)
- Results show that neurite outgrowth multiadaptor RhoGAP protein, NOMA-GAP, plays an essential role downstream of NGF in promoting neurite outgrowth and extension by recruiting SHP2 and activating Cdc42. (PMID:17664338)
- ARHGAP33 is associated with brain phenotypes of patients with schizophrenia. (PMID:26839058)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Arhgap33 | ENSMUSG00000036882 |
| rattus_norvegicus | Arhgap33 | ENSRNOG00000024677 |
| drosophila_melanogaster | CdGAPr | FBGN0032821 |
| caenorhabditis_elegans | WBGENE00009800 |
Paralogs (3): ARHGAP31 (ENSG00000031081), ARHGAP32 (ENSG00000134909), ARHGAP30 (ENSG00000186517)
Protein
Protein identifiers
Rho GTPase-activating protein 33 — O14559 (reviewed: O14559)
Alternative names: Rho-type GTPase-activating protein 33, Sorting nexin-26, Tc10/CDC42 GTPase-activating protein
All UniProt accessions (4): O14559, A0A0A0MQQ9, K7EK14, K7EQI6
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport.
Subunit / interactions. Specifically interacts with CDC42 and RHOQ/TC10 through its Rho-GAP domain. Interacts with NEK6.
Similarity. Belongs to the PX domain-containing GAP family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14559-1 | 1 | yes |
| O14559-10 | 2 | |
| O14559-11 | 3 | |
| O14559-12 | 4 |
RefSeq proteins (3): NP_001166101, NP_001353107, NP_443180 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000198 | RhoGAP_dom | Domain |
| IPR001452 | SH3_domain | Domain |
| IPR008936 | Rho_GTPase_activation_prot | Homologous_superfamily |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR036871 | PX_dom_sf | Homologous_superfamily |
| IPR051576 | PX-Rho_GAP | Family |
Pfam: PF00620, PF14604
UniProt features (37 total): compositionally biased region 11, region of interest 7, modified residue 6, splice variant 6, domain 3, sequence conflict 2, chain 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14559-F1 | 54.54 | 0.18 |
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): 350 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)
Post-translational modifications (6): 8, 570, 636, 727, 1169, 1244
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013406 | RHOQ GTPase cycle |
MSigDB gene sets: 144 (showing top):
GOBP_DENDRITE_DEVELOPMENT, MYOGENIN_Q6, CCAWYNNGAAR_UNKNOWN, GOBP_SYNAPSE_ASSEMBLY, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_DENDRITE_MORPHOGENESIS, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, GOBP_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT
GO Biological Process (6): small GTPase-mediated signal transduction (GO:0007264), response to toxic substance (GO:0009636), protein transport (GO:0015031), regulation of dendritic spine morphogenesis (GO:0061001), regulation of postsynapse assembly (GO:0150052), signal transduction (GO:0007165)
GO Molecular Function (4): GTPase activator activity (GO:0005096), protein kinase binding (GO:0019901), phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515)
GO Cellular Component (12): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), cell cortex (GO:0005938), postsynaptic density (GO:0014069), actin cytoskeleton (GO:0015629), protein-containing complex (GO:0032991), dendritic spine (GO:0043197), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737)
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 |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 3 |
| regulation of postsynapse organization | 2 |
| cell periphery | 2 |
| intracellular signaling cassette | 1 |
| response to chemical | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| regulation of neuron projection development | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| dendritic spine morphogenesis | 1 |
| regulation of synapse assembly | 1 |
| postsynapse assembly | 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 |
| kinase binding | 1 |
| anion binding | 1 |
| binding | 1 |
| nucleolus | 1 |
| nuclear lumen | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| cytoskeleton | 1 |
| cellular_component | 1 |
| dendrite | 1 |
| neuron spine | 1 |
| postsynapse | 1 |
| synapse | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
668 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARHGAP33 | SUCO | Q9UBS9 | 618 |
| ARHGAP33 | NEK6 | Q9HC98 | 502 |
| ARHGAP33 | SORT1 | Q99523 | 499 |
| ARHGAP33 | NTRK1 | P04629 | 472 |
| ARHGAP33 | RALGAPB | Q86X10 | 462 |
| ARHGAP33 | SYNGAP1 | Q96PV0 | 410 |
| ARHGAP33 | NCKAP1 | Q9Y2A7 | 404 |
| ARHGAP33 | CDC42 | P21181 | 390 |
| ARHGAP33 | ARHGEF2 | Q92974 | 380 |
| ARHGAP33 | CRKL | P46109 | 370 |
| ARHGAP33 | CTTNBP2 | Q8WZ74 | 366 |
| ARHGAP33 | FDXACB1 | Q9BRP7 | 358 |
| ARHGAP33 | TSC2 | P49815 | 353 |
| ARHGAP33 | ASXL3 | Q9C0F0 | 353 |
| ARHGAP33 | ZNF292 | O60281 | 353 |
| ARHGAP33 | CDC42BPG | Q6DT37 | 353 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FYN | ARHGAP33 | psi-mi:“MI:0915”(physical association) | 0.510 |
| ARHGAP33 | FYN | psi-mi:“MI:0915”(physical association) | 0.510 |
| ADAM10 | ARHGAP33 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGAP33 | RAC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): CYSRT1 (Two-hybrid), ARHGAP33 (Affinity Capture-MS), ARHGAP33 (Affinity Capture-MS), ARHGAP33 (Affinity Capture-RNA), ARHGAP33 (Proximity Label-MS), ARHGAP33 (Proximity Label-MS), ARHGAP33 (Affinity Capture-MS), ARHGAP33 (Two-hybrid), ARHGAP33 (Affinity Capture-MS), ARHGAP33 (Co-fractionation), ARHGAP33 (Affinity Capture-RNA), ARHGAP33 (Two-hybrid), ARHGAP33 (Two-hybrid), ARHGAP33 (Reconstituted Complex)
ESM2 similar proteins: A0A1B0GUA5, A0A286YF58, A0A494C0N9, A0A494C0Y3, A0A7I2V3R4, A0JNN8, A2ARS0, A2VDX9, A5PJP1, A6NGB7, A8MVW0, C9JTQ0, O14511, O14559, O35392, O35569, O43541, O60548, O70220, P0DPE3, Q08102, Q14V87, Q19A40, Q29RK8, Q2HJ59, Q3TYP4, Q5BLP8, Q5T442, Q63244, Q6F5E0, Q6QNY0, Q6VUP9, Q80WY3, Q80XF7, Q8BQU6, Q8K025, Q8K071, Q8TD94, Q8WY41, Q8WZ71
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 |
|---|---|---|---|
| FYN | down-regulates | ARHGAP33 | phosphorylation |
| ARHGAP33 | “down-regulates activity” | RAC1 | “gtpase-activating protein” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
210 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 174 |
| Likely benign | 11 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 625761 | GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) | Pathogenic |
SpliceAI
3074 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:35775662:GTG:G | donor_gain | 1.0000 |
| 19:35778357:TCAG:T | donor_loss | 1.0000 |
| 19:35778359:AGG:A | donor_loss | 1.0000 |
| 19:35778458:CCACA:C | acceptor_loss | 1.0000 |
| 19:35778459:CACAG:C | acceptor_loss | 1.0000 |
| 19:35778461:CAG:C | acceptor_loss | 1.0000 |
| 19:35778462:A:T | acceptor_loss | 1.0000 |
| 19:35778462:AG:A | acceptor_gain | 1.0000 |
| 19:35778463:GG:G | acceptor_gain | 1.0000 |
| 19:35778463:GGGCC:G | acceptor_gain | 1.0000 |
| 19:35778544:G:GT | donor_gain | 1.0000 |
| 19:35778597:CCCAG:C | donor_loss | 1.0000 |
| 19:35778598:CCAG:C | donor_loss | 1.0000 |
| 19:35778599:CAG:C | donor_loss | 1.0000 |
| 19:35778600:AGG:A | donor_loss | 1.0000 |
| 19:35778601:GGTAA:G | donor_loss | 1.0000 |
| 19:35778602:G:C | donor_loss | 1.0000 |
| 19:35778603:T:A | donor_loss | 1.0000 |
| 19:35779122:G:GT | donor_gain | 1.0000 |
| 19:35780192:C:G | acceptor_gain | 1.0000 |
| 19:35780193:A:AG | acceptor_gain | 1.0000 |
| 19:35780194:T:G | acceptor_gain | 1.0000 |
| 19:35780198:A:AG | acceptor_gain | 1.0000 |
| 19:35780199:C:G | acceptor_gain | 1.0000 |
| 19:35780204:A:AG | acceptor_gain | 1.0000 |
| 19:35780205:T:G | acceptor_gain | 1.0000 |
| 19:35780206:TTCA:T | acceptor_loss | 1.0000 |
| 19:35780207:TCAGC:T | acceptor_loss | 1.0000 |
| 19:35780208:CAG:C | acceptor_loss | 1.0000 |
| 19:35780209:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
4762 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000340213 (19:35783492 A>G), RS1000361674 (19:35777196 C>T), RS1000367743 (19:35773960 C>A), RS1000943872 (19:35782309 G>A), RS1001062366 (19:35779511 C>T), RS1001096488 (19:35779356 A>T), RS1001143225 (19:35787792 C>T), RS1001306726 (19:35779035 C>T), RS1001380939 (19:35776189 G>T), RS1001413605 (19:35775762 C>A,G), RS1001435555 (19:35773914 G>A,C,T), RS1001441899 (19:35784773 C>T), RS1001865566 (19:35773629 G>C), RS1002135956 (19:35786612 C>A,T), RS1002320063 (19:35774432 A>G)
Disease associations
OMIM: gene MIM:614902 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003255_11 | Urinary albumin-to-creatinine ratio | 5.000000e-06 |
| GCST008022_4 | Umami taste perception in obesity with metabolic syndrome | 8.000000e-06 |
| GCST010703_277 | Brain morphology (MOSTest) | 2.000000e-15 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| titanium dioxide | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| muconaldehyde | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| calfactant | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Gold Compounds | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | decreases expression | 1 |
| Nanotubes, Carbon | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
13 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
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| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder