PLEKHG4B
gene geneOn this page
Also known as KIAA1909ARHGEF48
Summary
PLEKHG4B (pleckstrin homology and RhoGEF domain containing G4B, HGNC:29399) is a protein-coding gene on chromosome 5p15.33, encoding Pleckstrin homology domain-containing family G member 4B (Q96PX9). Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP.
This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor.
Source: NCBI Gene 153478 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 315 total
- MANE Select transcript:
NM_052909
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29399 |
| Approved symbol | PLEKHG4B |
| Name | pleckstrin homology and RhoGEF domain containing G4B |
| Location | 5p15.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1909, ARHGEF48 |
| Ensembl gene | ENSG00000153404 |
| Ensembl biotype | protein_coding |
| OMIM | 620665 |
| Entrez | 153478 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron
ENST00000283426, ENST00000502646, ENST00000504041, ENST00000637938, ENST00000924299, ENST00000924300, ENST00000924301
RefSeq mRNA: 1 — MANE Select: NM_052909
NM_052909
CCDS: CCDS34124
Canonical transcript exons
ENST00000637938 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001010580 | 169340 | 169592 |
| ENSE00001083898 | 143047 | 143256 |
| ENSE00001091609 | 162722 | 163548 |
| ENSE00001135995 | 156071 | 156210 |
| ENSE00001136002 | 155345 | 155443 |
| ENSE00001136007 | 154875 | 154991 |
| ENSE00001136016 | 151513 | 151599 |
| ENSE00001136025 | 144827 | 144920 |
| ENSE00001136029 | 143380 | 143503 |
| ENSE00001198672 | 161783 | 161944 |
| ENSE00001279274 | 156773 | 156911 |
| ENSE00001312287 | 182004 | 189966 |
| ENSE00002031980 | 113251 | 113448 |
| ENSE00002040385 | 92168 | 92276 |
| ENSE00002058692 | 139483 | 140716 |
| ENSE00003495568 | 171043 | 171132 |
| ENSE00003541475 | 181514 | 181675 |
| ENSE00003585064 | 173918 | 174098 |
| ENSE00003635388 | 171214 | 171444 |
| ENSE00003688124 | 172897 | 173067 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 82.63.
FANTOM5 (CAGE): breadth broad, TPM avg 2.1281 / max 73.3602, expressed in 455 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 55435 | 2.0145 | 440 |
| 55437 | 0.1136 | 52 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 82.63 | gold quality |
| amniotic fluid | UBERON:0000173 | 80.81 | gold quality |
| ganglionic eminence | UBERON:0004023 | 79.19 | gold quality |
| buccal mucosa cell | CL:0002336 | 79.15 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 78.82 | gold quality |
| cortical plate | UBERON:0005343 | 76.12 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.48 | gold quality |
| cerebellar vermis | UBERON:0004720 | 74.13 | silver quality |
| upper arm skin | UBERON:0004263 | 71.71 | gold quality |
| thyroid gland | UBERON:0002046 | 71.40 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 71.17 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 70.97 | gold quality |
| pituitary gland | UBERON:0000007 | 70.89 | gold quality |
| myocardium | UBERON:0002349 | 70.35 | gold quality |
| adenohypophysis | UBERON:0002196 | 69.63 | gold quality |
| pancreatic ductal cell | CL:0002079 | 69.00 | silver quality |
| kidney epithelium | UBERON:0004819 | 68.67 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 68.59 | gold quality |
| bronchial epithelial cell | CL:0002328 | 67.91 | gold quality |
| bronchus | UBERON:0002185 | 67.61 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 67.55 | gold quality |
| cartilage tissue | UBERON:0002418 | 67.51 | gold quality |
| sperm | CL:0000019 | 67.06 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 66.73 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 66.67 | gold quality |
| right uterine tube | UBERON:0001302 | 66.60 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 66.47 | gold quality |
| minor salivary gland | UBERON:0001830 | 65.68 | gold quality |
| mouth mucosa | UBERON:0003729 | 64.97 | gold quality |
| pericardium | UBERON:0002407 | 64.80 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-17 | no | 54.30 |
| E-MTAB-6075 | no | 9.96 |
| E-ANND-3 | no | 4.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
255 targeting PLEKHG4B, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-23A-5P | 99.94 | 65.39 | 468 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-269k10.2 | ENSDARG00000086950 |
Paralogs (22): TRIO (ENSG00000038382), MCF2L2 (ENSG00000053524), PLEKHG2 (ENSG00000090924), MCF2 (ENSG00000101977), ARHGEF7 (ENSG00000102606), PLEKHG1 (ENSG00000120278), MCF2L (ENSG00000126217), ARHGEF6 (ENSG00000129675), ARHGEF9 (ENSG00000131089), VAV3 (ENSG00000134215), VAV1 (ENSG00000141968), TIAM2 (ENSG00000146426), KIAA1755 (ENSG00000149633), TIAM1 (ENSG00000156299), KALRN (ENSG00000160145), VAV2 (ENSG00000160293), ARHGEF40 (ENSG00000165801), SPATA13 (ENSG00000182957), SESTD1 (ENSG00000187231), PLEKHN1 (ENSG00000187583), PLEKHG4 (ENSG00000196155), ARHGEF25 (ENSG00000240771)
Protein
Protein identifiers
Pleckstrin homology domain-containing family G member 4B — Q96PX9 (reviewed: Q96PX9)
All UniProt accessions (3): Q96PX9, A0AAK2PKJ8, Q96HN1
UniProt curated annotations — full annotation on UniProt →
Function. Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP. Plays a role in actin cytoskeletal remodeling in the late stage of cell-cell junction formation by regulating the contractility of actin filaments, which prompts the conversion from ‘open’ to ‘closed’ junctions.
Subunit / interactions. Found in a complex with ARHGEF11 and ARHGEF12; binding to ARHGEF11 and ARHGEF12 enhances CDC42 GEF activity of PLEKHG4B, and PLEKHG4B, in turn, inhibits ARHGEF11- and ARHGEF12-mediated RHOA activation. Interacts with ANXA2; this interaction is required for PLEKHG4B localization to cell-cell adhesions.
Subcellular location. Basal cell membrane. Cell junction. Nucleus. Cytoplasm.
Domain organisation. Subjects to autoinhibition, mediated by the N-terminal domain.
RefSeq proteins (1): NP_443141* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000219 | DH_dom | Domain |
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR035899 | DBL_dom_sf | Homologous_superfamily |
| IPR052231 | Rho_GEF_signaling-related | Family |
| IPR055251 | SOS1_NGEF_PH | Domain |
Pfam: PF00621, PF22697
UniProt features (31 total): compositionally biased region 11, sequence variant 8, region of interest 7, domain 2, chain 1, mutagenesis site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96PX9-F1 | 59.46 | 0.20 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 1373 | does not localize to the basal membrane nor accumulate at cell-cell junctions in ionomycin-treated cells. does not affec |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013148 | CDC42 GTPase cycle |
MSigDB gene sets: 63 (showing top):
GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, GOBP_CELL_CELL_ADHESION, NIKOLSKY_BREAST_CANCER_5P15_AMPLICON, GOBP_CELL_PROJECTION_ORGANIZATION, CERVERA_SDHB_TARGETS_1_UP, GOCC_CELL_CELL_JUNCTION, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY, GOCC_ANCHORING_JUNCTION, GOCC_PLASMA_MEMBRANE_REGION, GOCC_EXTRINSIC_COMPONENT_OF_MEMBRANE, GOCC_BASAL_PART_OF_CELL, WANG_SMARCE1_TARGETS_UP, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY
GO Biological Process (3): axon guidance (GO:0007411), regulation of small GTPase mediated signal transduction (GO:0051056), cell-cell adhesion (GO:0098609)
GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)
GO Cellular Component (9): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), basal plasma membrane (GO:0009925), extrinsic component of membrane (GO:0019898), membrane (GO:0016020), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| membrane | 2 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| cell adhesion | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cell periphery | 1 |
| anchoring junction | 1 |
| basal part of cell | 1 |
| plasma membrane region | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
392 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLEKHG4B | ARHGEF19 | Q8IW93 | 520 |
| PLEKHG4B | LRRC14B | A6NHZ5 | 480 |
| PLEKHG4B | LRRC20 | Q8TCA0 | 477 |
| PLEKHG4B | ARHGEF11 | O15085 | 444 |
| PLEKHG4B | ARHGEF33 | A8MVX0 | 424 |
| PLEKHG4B | OR13F1 | Q8NGS4 | 418 |
| PLEKHG4B | DRC11L | A6NCM1 | 418 |
| PLEKHG4B | RASGRF2 | O14827 | 405 |
| PLEKHG4B | CNN1 | P51911 | 400 |
| PLEKHG4B | OR10G4 | Q8NGN3 | 400 |
| PLEKHG4B | PLEKHG6 | Q3KR16 | 396 |
| PLEKHG4B | LRRC30 | A6NM36 | 392 |
| PLEKHG4B | ARHGEF38 | Q9NXL2 | 391 |
| PLEKHG4B | ARHGEF15 | O94989 | 379 |
| PLEKHG4B | ATP6V1D | Q9Y5K8 | 376 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARHGEF11 | PLEKHG4B | psi-mi:“MI:0915”(physical association) | 0.500 |
| ARHGEF12 | PLEKHG4B | psi-mi:“MI:0915”(physical association) | 0.500 |
| PLEKHG4B | ARHGEF11 | psi-mi:“MI:0914”(association) | 0.500 |
| FHL3 | PLEKHG4B | psi-mi:“MI:0915”(physical association) | 0.490 |
| GLRX3 | PLEKHG4B | psi-mi:“MI:0915”(physical association) | 0.490 |
| PLEKHG4B | FHL3 | psi-mi:“MI:0915”(physical association) | 0.490 |
| PLEKHG4B | Arhgap18 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KPNA4 | PLEKHG4B | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLEKHG4B | GNA13 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGEF11 | MTX2 | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHG4B | ARHGEF11 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGEF40 | ARHGEF11 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGEF12 | GIPC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (35): PLEKHG4B (Affinity Capture-RNA), PLEKHG4B (Two-hybrid), PLEKHG4B (Two-hybrid), ARHGEF11 (Affinity Capture-Western), ARHGEF12 (Affinity Capture-Western), PLEKHG4B (Reconstituted Complex), ARHGAP18 (Affinity Capture-Western), PLEKHG4B (FRET), PLEKHG4B (Affinity Capture-MS), PLEKHG4B (Affinity Capture-MS), PLEKHG4B (Affinity Capture-MS), ARHGAP18 (Affinity Capture-MS), ARHGEF11 (Affinity Capture-MS), ARHGEF12 (Affinity Capture-MS), CSTA (Affinity Capture-MS)
ESM2 similar proteins: A0A5F9ZHS7, A1YGK1, A2T7E6, A8MZG2, O08574, O43593, O60393, O75593, O88621, O95231, P0C1T1, P0CG20, P20428, P97609, Q04667, Q17QR5, Q2KIS6, Q2M1V0, Q2T9Q7, Q32LE6, Q497V6, Q5JUK2, Q5M844, Q5RJB0, Q5TGS1, Q61645, Q61657, Q6ZMY3, Q6ZN32, Q6ZNG2, Q7RTU1, Q8BZW2, Q8CGW9, Q8IWN7, Q8IXT2, Q8IZ20, Q8N1L9, Q8N7G0, Q8N944, Q8N9Y4
Diamond homologs: A2ASS6, A2CG49, A4IFM7, A8C984, A8WXF6, E9PT87, F1M0Z1, G4SLH0, O02827, O08875, O43293, O44997, O54784, O60229, O62305, O70150, O75962, O88764, O94768, O94806, P07313, P08414, P10911, P13234, P18652, P18653, P18654, P20689, P22216, P25323, P29294, P51812, P53355, P97924, Q00168, Q0KHT7, Q0KL02, Q14012, Q15139, Q15418
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PLEKHG4B | “up-regulates activity” | CDC42 | “guanine nucleotide exchange factor” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
315 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 256 |
| Likely benign | 31 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3668 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:143046:GAC:G | acceptor_gain | 1.0000 |
| 5:143252:CCCAG:C | donor_loss | 1.0000 |
| 5:143253:CCAGG:C | donor_loss | 1.0000 |
| 5:143254:CAG:C | donor_loss | 1.0000 |
| 5:143255:AGGT:A | donor_loss | 1.0000 |
| 5:143256:GG:G | donor_loss | 1.0000 |
| 5:143258:T:G | donor_loss | 1.0000 |
| 5:154873:A:AG | acceptor_gain | 1.0000 |
| 5:154874:G:GG | acceptor_gain | 1.0000 |
| 5:154874:GT:G | acceptor_gain | 1.0000 |
| 5:155333:A:AG | acceptor_gain | 1.0000 |
| 5:155340:A:AG | acceptor_gain | 1.0000 |
| 5:155343:A:AG | acceptor_gain | 1.0000 |
| 5:155344:G:GG | acceptor_gain | 1.0000 |
| 5:156065:GTGCA:G | acceptor_loss | 1.0000 |
| 5:156067:GCA:G | acceptor_loss | 1.0000 |
| 5:156068:CA:C | acceptor_loss | 1.0000 |
| 5:156069:A:AC | acceptor_loss | 1.0000 |
| 5:156070:G:GT | acceptor_loss | 1.0000 |
| 5:156070:GGAA:G | acceptor_gain | 1.0000 |
| 5:156207:GCCG:G | donor_gain | 1.0000 |
| 5:156209:CGG:C | donor_loss | 1.0000 |
| 5:156210:GGTGA:G | donor_loss | 1.0000 |
| 5:156211:G:GG | donor_gain | 1.0000 |
| 5:156211:GT:G | donor_loss | 1.0000 |
| 5:156212:T:A | donor_loss | 1.0000 |
| 5:156768:CTCAG:C | acceptor_loss | 1.0000 |
| 5:156770:CA:C | acceptor_loss | 1.0000 |
| 5:156771:A:AG | acceptor_gain | 1.0000 |
| 5:156771:AG:A | acceptor_gain | 1.0000 |
AlphaMissense
10579 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:173978:T:C | F1072L | 0.997 |
| 5:173980:T:A | F1072L | 0.997 |
| 5:173980:T:G | F1072L | 0.997 |
| 5:173966:T:C | F1068L | 0.996 |
| 5:173968:T:A | F1068L | 0.996 |
| 5:173968:T:G | F1068L | 0.996 |
| 5:173979:T:C | F1072S | 0.995 |
| 5:173967:T:C | F1068S | 0.994 |
| 5:172981:T:C | F1023L | 0.993 |
| 5:172983:C:A | F1023L | 0.993 |
| 5:172983:C:G | F1023L | 0.993 |
| 5:173008:A:C | S1032R | 0.993 |
| 5:173010:C:A | S1032R | 0.993 |
| 5:173010:C:G | S1032R | 0.993 |
| 5:172940:T:C | F1009S | 0.992 |
| 5:172997:T:C | L1028P | 0.992 |
| 5:173006:T:C | F1031S | 0.992 |
| 5:174047:T:A | W1095R | 0.992 |
| 5:174047:T:C | W1095R | 0.992 |
| 5:172987:T:C | F1025L | 0.991 |
| 5:172989:T:A | F1025L | 0.991 |
| 5:172989:T:G | F1025L | 0.991 |
| 5:173005:T:C | F1031L | 0.991 |
| 5:173007:T:A | F1031L | 0.991 |
| 5:173007:T:G | F1031L | 0.991 |
| 5:172982:T:C | F1023S | 0.990 |
| 5:173000:T:A | I1029N | 0.990 |
| 5:173067:G:C | K1051N | 0.990 |
| 5:173067:G:T | K1051N | 0.990 |
| 5:173973:T:C | I1070T | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000027937 (5:156841 C>T), RS1000029389 (5:92148 G>A), RS1000035270 (5:132502 C>G), RS1000061293 (5:118529 A>G), RS1000077255 (5:97629 G>A), RS1000088061 (5:167216 G>A,C), RS1000116120 (5:187889 G>A), RS1000123220 (5:173507 T>C), RS1000171239 (5:115654 C>G), RS1000194894 (5:154488 C>T), RS1000195584 (5:189439 C>G,T), RS1000227497 (5:154778 C>G,T), RS1000358503 (5:185128 G>A), RS1000367949 (5:104894 A>G), RS1000369576 (5:179809 A>T)
Disease associations
OMIM: gene MIM:620665 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): prostate cancer (MONDO:0008315), neurodevelopmental disorder (MONDO:0700092)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003832_19 | Asthma (childhood onset) | 8.000000e-06 |
| GCST003832_3 | Asthma (childhood onset) | 1.000000e-06 |
| GCST009309_10 | Face memory | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation, affects expression, decreases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Aflatoxin B1 | affects methylation, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases methylation, affects cotreatment | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Aflatoxins | increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Copper | decreases expression, affects cotreatment | 1 |
| Glucose | increases expression | 1 |
| Manganese | increases expression, increases abundance | 1 |
| Methapyrilene | increases methylation | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Smoke | increases expression | 1 |
| Thiram | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.