ARHGEF25
gene geneOn this page
Also known as GEFTp63RhoGEF
Summary
ARHGEF25 (Rho guanine nucleotide exchange factor 25, HGNC:30275) is a protein-coding gene on chromosome 12q13.3, encoding Rho guanine nucleotide exchange factor 25 (Q86VW2). May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers.
Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 115557 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 105 total — 1 likely-pathogenic
- MANE Select transcript:
NM_182947
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30275 |
| Approved symbol | ARHGEF25 |
| Name | Rho guanine nucleotide exchange factor 25 |
| Location | 12q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GEFT, p63RhoGEF |
| Ensembl gene | ENSG00000240771 |
| Ensembl biotype | protein_coding |
| OMIM | 610215 |
| Entrez | 115557 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 4 retained_intron
ENST00000286494, ENST00000333972, ENST00000466399, ENST00000469072, ENST00000471370, ENST00000484357, ENST00000616622, ENST00000885360, ENST00000885361, ENST00000885362
RefSeq mRNA: 3 — MANE Select: NM_182947
NM_001111270, NM_001347933, NM_182947
CCDS: CCDS44931, CCDS8947
Canonical transcript exons
ENST00000286494 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001023864 | 57614516 | 57614605 |
| ENSE00001023880 | 57614331 | 57614400 |
| ENSE00001023885 | 57613694 | 57613760 |
| ENSE00001023901 | 57614016 | 57614119 |
| ENSE00001023908 | 57613440 | 57613516 |
| ENSE00001598974 | 57613264 | 57613359 |
| ENSE00001611343 | 57612930 | 57613144 |
| ENSE00001747459 | 57611435 | 57611991 |
| ENSE00003493656 | 57615237 | 57615314 |
| ENSE00003516426 | 57616284 | 57616495 |
| ENSE00003562851 | 57615512 | 57615712 |
| ENSE00003602933 | 57615837 | 57616017 |
| ENSE00003630204 | 57614967 | 57615017 |
| ENSE00003690293 | 57614689 | 57614781 |
| ENSE00003846392 | 57616784 | 57617245 |
Expression profiles
Bgee: expression breadth ubiquitous, 139 present calls, max score 98.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.1333 / max 431.9318, expressed in 1433 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 126296 | 16.3925 | 1385 |
| 126295 | 4.3852 | 1234 |
| 126297 | 0.9202 | 440 |
| 126293 | 0.2689 | 99 |
| 126291 | 0.1050 | 44 |
| 126292 | 0.0614 | 34 |
Top tissues by expression
139 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 98.64 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.53 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.52 | gold quality |
| cerebellum | UBERON:0002037 | 98.51 | gold quality |
| right coronary artery | UBERON:0001625 | 98.25 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.22 | gold quality |
| lower esophagus | UBERON:0013473 | 98.20 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.11 | gold quality |
| body of uterus | UBERON:0009853 | 98.08 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.04 | gold quality |
| popliteal artery | UBERON:0002250 | 98.01 | gold quality |
| tibial artery | UBERON:0007610 | 98.01 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.96 | gold quality |
| left uterine tube | UBERON:0001303 | 97.70 | gold quality |
| myometrium | UBERON:0001296 | 97.68 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.37 | gold quality |
| ascending aorta | UBERON:0001496 | 97.36 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.34 | gold quality |
| left coronary artery | UBERON:0001626 | 97.25 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.19 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.97 | gold quality |
| frontal cortex | UBERON:0001870 | 96.80 | gold quality |
| frontal lobe | UBERON:0016525 | 96.79 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 96.74 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.42 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.41 | gold quality |
| cerebral cortex | UBERON:0000956 | 96.32 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.20 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.11 | gold quality |
| right ovary | UBERON:0002118 | 95.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.08 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 17)
- Results show that p63RhoGEF is a RhoA-specific GEF that may play a key role in actin cytoskeleton reorganization in different tissues, especially in heart cellular morphology. (PMID:11861769)
- GEFT enhances dendritic spine formation and neurite outgrowth in primary neurons and neuroblastoma cells, respectively, through the activation of Rac/Cdc42-PAK signaling pathways. (PMID:15322108)
- a new signaling pathway by which G alpha(q/11)-coupled receptors specifically induce Rho signaling through a direct interaction of activated G alpha(q/11) subunits with p63RhoGEF. (PMID:15632174)
- Endogenous GEFT is transcriptionally upregulated during myogenic differentiation and downregulated during adipogenic differentiation. (PMID:16314529)
- Together, our data provide new evidence suggesting that GEFT is an important regulator of multiple processes involved in axon and dendrite formation. (PMID:16496360)
- the crystal structure of the Galphaq-p63RhoGEF-RhoA complex, detailing the interactions of Galphaq with the Dbl and pleckstrin homology (DH and PH) domains of p63RhoGEF was determined (PMID:18096806)
- MLK3 functions in a regulated way to limit levels of the activated GTPase Rho by binding to the Rho activator, p63RhoGEF/GEFT, which, in turn, prevents its activation by Galphaq. (PMID:18851832)
- Specifically mediates angiotensin II- Gq/11-dependent RhoA activation and downstream signaling and processes in vascular smooth muscle cells (PMID:20739613)
- p63RhoGEF is regulated chiefly through allosteric control by Galpha(q), as opposed to other known Galpha-regulated RhoGEFs, which are instead sequestered in the cytoplasm, perhaps because of their high basal activity. (PMID:21832057)
- Signaling through p63RhoGEF provides a novel mechanism for selective regulation of blood pressure. (PMID:21885830)
- p63RhoGEF-mediated formation of a single polarized lamellipodium is required for chemotactic migration in breast carcinoma cells. (PMID:23380069)
- Signaling efficiency of Galphaq through its effectors p63RhoGEF and GEFT depends on their subcellular location. (PMID:23884432)
- assessed p63RhoGEF gene and protein expression and RhoA/Rho kinase activity in essential hypertensive and Bartter’s and Gitelman’s syndrome patients, a model opposite to hypertension (PMID:24356540)
- p63RhoGEF can rapidly activate RhoA through endogenous G-protein coupled receptors. (PMID:26435194)
- p63RhoGEF(619) relocates to the plasma membrane upon activation of Galphaq coupled GPCRs, resembling the well-known activation mechanism of RhoGEFs activated by Galpha12/13. (PMID:27833100)
- Guanine nucleotide exchange factor T exerts the cancer-promoting function in cholangiocarcinoma by enhancing the Wnt-GSK-3beta-beta-catenin cascade via regulation of Rac1/Cdc42. (PMID:36977438)
- Lnc-PSMA8-1 activated by GEFT promotes rhabdomyosarcoma progression via upregulation of mTOR expression by sponging miR-144-3p. (PMID:38225540)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ARHGEF25 | ENSDARG00000100606 |
| mus_musculus | Arhgef25 | ENSMUSG00000019467 |
| rattus_norvegicus | Arhgef25 | ENSRNOG00000005034 |
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), PLEKHG4B (ENSG00000153404), TIAM1 (ENSG00000156299), KALRN (ENSG00000160145), VAV2 (ENSG00000160293), ARHGEF40 (ENSG00000165801), SPATA13 (ENSG00000182957), SESTD1 (ENSG00000187231), PLEKHN1 (ENSG00000187583), PLEKHG4 (ENSG00000196155)
Protein
Protein identifiers
Rho guanine nucleotide exchange factor 25 — Q86VW2 (reviewed: Q86VW2)
Alternative names: Guanine nucleotide exchange factor GEFT, Rac/Cdc42/Rho exchange factor GEFT, RhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT, p63RhoGEF
All UniProt accessions (1): Q86VW2
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11-coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis.
Subunit / interactions. Interacts (via the DH domain) with POPDC1 (via the C-terminus cytoplasmic tail). Interacts with activated GNAQ and GNA11. Interacts with RHOA, CDC42 and RAC1.
Subcellular location. Cell membrane. Cytoplasm. Myofibril. Sarcomere.
Tissue specificity. Isoform 1 and isoform 2 are highly expressed in excitable tissues, such as brain, heart and muscle. Also detected in kidney and liver.
Domain organisation. The guanine nucleotide exchange activity is autoinhibited by the PH domain.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86VW2-1 | 1 | yes |
| Q86VW2-2 | 2, p63RhoGef | |
| Q86VW2-3 | 3 |
RefSeq proteins (3): NP_001104740, NP_001334862, NP_891992* (*=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 |
| IPR051336 | RhoGEF_Guanine_NuclExch_SF | Family |
| IPR055251 | SOS1_NGEF_PH | Domain |
Pfam: PF00621, PF22697
UniProt features (55 total): helix 21, strand 9, mutagenesis site 6, region of interest 6, compositionally biased region 3, sequence variant 3, domain 2, splice variant 2, turn 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2RGN | X-RAY DIFFRACTION | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86VW2-F1 | 69.79 | 0.45 |
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 (6):
| Position | Phenotype |
|---|---|
| 301 | abolishes its exchange activity on rhoa. |
| 471 | reduces exchange activity mediated by gnaq activation; in truncated construct. |
| 472 | reduces exchange activity mediated by gnaq activation; in truncated construct. |
| 475 | reduces exchange activity mediated by gnaq activation; in truncated construct. |
| 478 | reduces exchange activity mediated by gnaq activation; in truncated construct. |
| 479 | reduces exchange activity mediated by gnaq activation; in truncated construct. |
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-416476 | G alpha (q) signalling events |
| R-HSA-8980692 | RHOA GTPase cycle |
| R-HSA-9013026 | RHOB GTPase cycle |
| R-HSA-9013106 | RHOC GTPase cycle |
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-372790 | Signaling by GPCR |
| R-HSA-388396 | GPCR downstream signalling |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 85 (showing top):
MODY_HIPPOCAMPUS_POSTNATAL, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, MARTINEZ_RB1_TARGETS_DN, GOBP_CELL_PROJECTION_ORGANIZATION, MODULE_207, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MODULE_95, TGGAAA_NFAT_Q4_01, GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY, GOCC_EXTRINSIC_COMPONENT_OF_MEMBRANE, REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3K4ME2
GO Biological Process (2): axon guidance (GO:0007411), regulation of small GTPase mediated signal transduction (GO:0051056)
GO Molecular Function (1): guanyl-nucleotide exchange factor activity (GO:0005085)
GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), extrinsic component of membrane (GO:0019898), myofibril (GO:0030016), sarcomere (GO:0030017), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 5 |
| Signal Transduction | 2 |
| GPCR downstream signalling | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by GPCR | 1 |
| Signaling by Rho GTPases | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| membrane | 2 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cell periphery | 1 |
| contractile muscle fiber | 1 |
| myofibril | 1 |
Protein interactions and networks
STRING
1330 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARHGEF25 | GNAQ | P50148 | 948 |
| ARHGEF25 | RHOA | P06749 | 901 |
| ARHGEF25 | POPDC1 | Q8NE79 | 776 |
| ARHGEF25 | RGS8 | P57771 | 674 |
| ARHGEF25 | PAK5 | Q9P286 | 669 |
| ARHGEF25 | RGS5 | O15539 | 666 |
| ARHGEF25 | RGS21 | Q2M5E4 | 666 |
| ARHGEF25 | RGS17 | Q9UGC6 | 664 |
| ARHGEF25 | RGS20 | O76081 | 660 |
| ARHGEF25 | CDC42 | P21181 | 649 |
| ARHGEF25 | ARHGEF1 | Q92888 | 645 |
| ARHGEF25 | RGS13 | O14921 | 641 |
| ARHGEF25 | RGS11 | O94810 | 640 |
| ARHGEF25 | RGS16 | O15492 | 638 |
| ARHGEF25 | PLEK2 | Q9NYT0 | 637 |
| ARHGEF25 | RGS12 | O14924 | 637 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LMO1 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.830 |
| LMO3 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.550 |
| RTN4R | SOAT1 | psi-mi:“MI:0914”(association) | 0.530 |
| GABRB2 | GABRB3 | psi-mi:“MI:0914”(association) | 0.350 |
| CORO2B | SHC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (35): ARHGEF25 (Reconstituted Complex), ARHGEF25 (Affinity Capture-MS), ARHGEF25 (Affinity Capture-MS), ARHGEF25 (Affinity Capture-MS), RHOA (Biochemical Activity), ARHGEF25 (Reconstituted Complex), ARHGEF25 (FRET), ARPC1B (Affinity Capture-MS), CBX1 (Affinity Capture-MS), FAM207A (Affinity Capture-MS), PLEC (Affinity Capture-MS), C14orf166 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), DNAJC9 (Affinity Capture-MS), FLOT1 (Affinity Capture-MS)
ESM2 similar proteins: A2AB59, B1AK53, B2DD29, D3YZU1, D3ZG83, O09039, O14976, O54967, O75427, P80192, P98171, Q02779, Q17R13, Q3TBD2, Q3U1V8, Q3UHC7, Q4ACU6, Q4LDD4, Q5DU25, Q5JU85, Q5RB40, Q5RJI5, Q5TCX8, Q5U2X5, Q5VWQ8, Q61097, Q61210, Q66HA1, Q66L42, Q6TLK4, Q6ZUM4, Q80XI6, Q86VW2, Q8IVT5, Q8R0S2, Q8R5F8, Q8R5G7, Q8TDC3, Q8TE68, Q8WWN8
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
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ARHGEF25 | “up-regulates activity” | RHOA | “guanine nucleotide exchange factor” |
| ARHGEF25 | up-regulates | CDC42 | “guanine nucleotide exchange factor” |
| ARHGEF25 | up-regulates | RAC1 | “guanine nucleotide exchange factor” |
| ARHGEF25 | up-regulates | RHOA | “guanine nucleotide exchange factor” |
| GNAQ | “up-regulates activity” | ARHGEF25 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 81 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 982196 | NM_182947.4(ARHGEF25):c.1327C>T (p.Arg443Cys) | Likely pathogenic |
SpliceAI
2624 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:57610680:GCCCG:G | donor_gain | 1.0000 |
| 12:57612831:GC:G | donor_gain | 1.0000 |
| 12:57612858:G:GT | donor_gain | 1.0000 |
| 12:57612871:GACCC:G | donor_gain | 1.0000 |
| 12:57613346:GAGA:G | donor_gain | 1.0000 |
| 12:57613437:CA:C | acceptor_loss | 1.0000 |
| 12:57613438:A:AG | acceptor_gain | 1.0000 |
| 12:57613438:A:C | acceptor_loss | 1.0000 |
| 12:57613439:G:GA | acceptor_gain | 1.0000 |
| 12:57613439:GC:G | acceptor_gain | 1.0000 |
| 12:57613439:GCC:G | acceptor_gain | 1.0000 |
| 12:57613439:GCCA:G | acceptor_gain | 1.0000 |
| 12:57613439:GCCAC:G | acceptor_gain | 1.0000 |
| 12:57613510:GGA:G | donor_gain | 1.0000 |
| 12:57613511:GA:G | donor_gain | 1.0000 |
| 12:57613511:GAG:G | donor_gain | 1.0000 |
| 12:57613512:AGTAT:A | donor_loss | 1.0000 |
| 12:57613513:GTAT:G | donor_gain | 1.0000 |
| 12:57613515:ATGT:A | donor_loss | 1.0000 |
| 12:57613516:TGTAA:T | donor_loss | 1.0000 |
| 12:57613517:G:C | donor_loss | 1.0000 |
| 12:57613517:G:GG | donor_gain | 1.0000 |
| 12:57613518:TAAGT:T | donor_loss | 1.0000 |
| 12:57613758:G:GT | donor_gain | 1.0000 |
| 12:57614116:GAGA:G | donor_gain | 1.0000 |
| 12:57614118:GA:G | donor_gain | 1.0000 |
| 12:57614120:G:GG | donor_gain | 1.0000 |
| 12:57614142:C:G | donor_gain | 1.0000 |
| 12:57614320:A:AG | acceptor_gain | 1.0000 |
| 12:57614326:TCCA:T | acceptor_loss | 1.0000 |
AlphaMissense
3747 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:57613711:T:C | L168P | 1.000 |
| 12:57614744:C:A | P291H | 1.000 |
| 12:57614751:G:C | Q293H | 1.000 |
| 12:57614751:G:T | Q293H | 1.000 |
| 12:57614753:G:C | R294P | 1.000 |
| 12:57613720:C:T | T171I | 0.999 |
| 12:57613723:A:T | E172V | 0.999 |
| 12:57613744:T:C | L179S | 0.999 |
| 12:57613744:T:G | L179W | 0.999 |
| 12:57614080:T:A | V206E | 0.999 |
| 12:57614082:T:C | F207L | 0.999 |
| 12:57614084:T:A | F207L | 0.999 |
| 12:57614084:T:G | F207L | 0.999 |
| 12:57614086:G:A | G208E | 0.999 |
| 12:57614090:T:A | N209K | 0.999 |
| 12:57614090:T:G | N209K | 0.999 |
| 12:57614109:T:A | W216R | 0.999 |
| 12:57614109:T:C | W216R | 0.999 |
| 12:57614390:T:C | F239S | 0.999 |
| 12:57614543:T:C | Y252H | 0.999 |
| 12:57614543:T:G | Y252D | 0.999 |
| 12:57614546:T:C | C253R | 0.999 |
| 12:57614547:G:A | C253Y | 0.999 |
| 12:57614548:T:G | C253W | 0.999 |
| 12:57614555:A:G | K256E | 0.999 |
| 12:57614557:G:C | K256N | 0.999 |
| 12:57614557:G:T | K256N | 0.999 |
| 12:57614564:T:C | S259P | 0.999 |
| 12:57614732:T:C | L287P | 0.999 |
| 12:57614735:T:C | L288P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000145879 (12:57612184 A>C), RS1000168809 (12:57612686 A>G), RS1001249025 (12:57615947 C>A), RS1001378807 (12:57610282 G>A), RS1001697326 (12:57611812 G>A,T), RS1001808862 (12:57611575 C>A,T), RS1002032774 (12:57613335 G>A), RS1002452557 (12:57617044 C>A), RS1002700921 (12:57610468 G>A), RS1003050932 (12:57611608 A>G), RS1003326278 (12:57617628 T>G), RS1004731800 (12:57610868 G>A,T), RS1004802818 (12:57609660 T>C,G), RS1005061815 (12:57615123 G>A,C,T), RS1005233503 (12:57610512 G>A,C,T)
Disease associations
OMIM: gene MIM:610215 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (2): Familial prostate cancer (Orphanet:1331), Moyamoya angiopathy (Orphanet:477768)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006624_101 | Systolic blood pressure | 3.000000e-16 |
| GCST007267_6 | Systolic blood pressure | 4.000000e-13 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects 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 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Triiodothyronine | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases 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.