FGD2
gene geneOn this page
Also known as ZFYVE4
Summary
FGD2 (FYVE, RhoGEF and PH domain containing 2, HGNC:3664) is a protein-coding gene on chromosome 6p21.2, encoding FYVE, RhoGEF and PH domain-containing protein 2 (Q7Z6J4). Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP.
The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system.
Source: NCBI Gene 221472 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 136 total
- MANE Select transcript:
NM_173558
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3664 |
| Approved symbol | FGD2 |
| Name | FYVE, RhoGEF and PH domain containing 2 |
| Location | 6p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZFYVE4 |
| Ensembl gene | ENSG00000146192 |
| Ensembl biotype | protein_coding |
| OMIM | 605091 |
| Entrez | 221472 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 retained_intron, 3 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000274963, ENST00000373535, ENST00000459781, ENST00000464083, ENST00000470273, ENST00000487920, ENST00000487975, ENST00000489356, ENST00000493635, ENST00000494343, ENST00000497659, ENST00000718346, ENST00000718347, ENST00000944336
RefSeq mRNA: 1 — MANE Select: NM_173558
NM_173558
CCDS: CCDS4829
Canonical transcript exons
ENST00000274963 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001838885 | 37027948 | 37029069 |
| ENSE00003503991 | 37020541 | 37020620 |
| ENSE00003517388 | 37013962 | 37014100 |
| ENSE00003518717 | 37020709 | 37020739 |
| ENSE00003562896 | 37008834 | 37009065 |
| ENSE00003569684 | 37025792 | 37025938 |
| ENSE00003593529 | 37014646 | 37014704 |
| ENSE00003595152 | 37013609 | 37013765 |
| ENSE00003602393 | 37014892 | 37015038 |
| ENSE00003615039 | 37010973 | 37011050 |
| ENSE00003615336 | 37022239 | 37022370 |
| ENSE00003616870 | 37011706 | 37011854 |
| ENSE00003627868 | 37027429 | 37027575 |
| ENSE00003630552 | 37021512 | 37021604 |
| ENSE00003642655 | 37015768 | 37015860 |
| ENSE00003972024 | 37005655 | 37005885 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 97.71.
FANTOM5 (CAGE): breadth broad, TPM avg 9.6766 / max 350.3130, expressed in 473 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67585 | 8.4507 | 465 |
| 67587 | 0.5657 | 177 |
| 67588 | 0.4703 | 167 |
| 67586 | 0.1897 | 106 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.71 | gold quality |
| mononuclear cell | CL:0000842 | 97.28 | gold quality |
| spleen | UBERON:0002106 | 97.23 | gold quality |
| granulocyte | CL:0000094 | 97.02 | gold quality |
| leukocyte | CL:0000738 | 96.92 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.57 | gold quality |
| medial globus pallidus | UBERON:0002477 | 94.92 | gold quality |
| lymph node | UBERON:0000029 | 94.86 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.81 | gold quality |
| blood | UBERON:0000178 | 93.94 | gold quality |
| globus pallidus | UBERON:0001875 | 93.81 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.12 | gold quality |
| cardia of stomach | UBERON:0001162 | 92.45 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 91.99 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 91.88 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 91.70 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.38 | silver quality |
| caecum | UBERON:0001153 | 91.09 | gold quality |
| ventral tegmental area | UBERON:0002691 | 91.00 | gold quality |
| gingiva | UBERON:0001828 | 90.95 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 90.89 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.70 | gold quality |
| vermiform appendix | UBERON:0001154 | 90.33 | gold quality |
| pylorus | UBERON:0001166 | 90.28 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 90.09 | gold quality |
| decidua | UBERON:0002450 | 90.02 | gold quality |
| sperm | CL:0000019 | 89.88 | silver quality |
| superior surface of tongue | UBERON:0007371 | 89.60 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 89.53 | gold quality |
| pericardium | UBERON:0002407 | 89.52 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-89232 | yes | 1863.85 |
| E-MTAB-6678 | yes | 433.40 |
| E-ANND-3 | yes | 30.52 |
| E-MTAB-9067 | yes | 12.63 |
| E-MTAB-9801 | yes | 9.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting FGD2, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
Literature-anchored findings (GeneRIF, showing 2)
- FGD2 has a role in leukocyte signaling and vesicle trafficking in cells specialized to present antigen in the immune system (PMID:18838382)
- Characterization of guanine nucleotide exchange activity of DH domain of human FGD2. (PMID:32681954)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fgd2 | ENSMUSG00000024013 |
| rattus_norvegicus | Fgd2 | ENSRNOG00000000528 |
| caenorhabditis_elegans | WBGENE00001366 | |
| caenorhabditis_elegans | WBGENE00001490 |
Paralogs (10): FARP2 (ENSG00000006607), FGD1 (ENSG00000102302), FGD3 (ENSG00000127084), ARHGEF39 (ENSG00000137135), FGD4 (ENSG00000139132), FARP1 (ENSG00000152767), FGD5 (ENSG00000154783), FRMD7 (ENSG00000165694), FGD6 (ENSG00000180263), ECT2L (ENSG00000203734)
Protein
Protein identifiers
FYVE, RhoGEF and PH domain-containing protein 2 — Q7Z6J4 (reviewed: Q7Z6J4)
Alternative names: Zinc finger FYVE domain-containing protein 4
All UniProt accessions (2): Q7Z6J4, H7BY95
UniProt curated annotations — full annotation on UniProt →
Function. Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate.
Subcellular location. Cytoplasm. Cytoskeleton. Nucleus. Early endosome. Early endosome membrane. Cell projection. Ruffle membrane.
Domain organisation. The FYVE-type zinc-finger is necessary for early endosome localization. Recruitment to endosomal membranes via this domain requires the presence of phosphatidylinositol 3-phosphate or other phosphatidylinositides. The PH domain is necessary for localization to the ruffle membrane. Recruitment to ruffle membrane occurs through binding of phosphoinositides by the PH domain. This domain also contributes to the lipid-binding properties of the protein. The DH domain is necessary for its ability to activate JNK1 via CDC42.
Miscellaneous. May be due to an intron retention.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z6J4-1 | 1 | yes |
| Q7Z6J4-2 | 2 | |
| Q7Z6J4-4 | 3 | |
| Q7Z6J4-5 | 4 |
RefSeq proteins (1): NP_775829* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000219 | DH_dom | Domain |
| IPR000306 | Znf_FYVE | Domain |
| IPR001849 | PH_domain | Domain |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017455 | Znf_FYVE-rel | Domain |
| IPR035899 | DBL_dom_sf | Homologous_superfamily |
| IPR035941 | FGD1-4_PH2 | Domain |
| IPR037797 | FGD2_PH1 | Domain |
| IPR051092 | FYVE_RhoGEF_PH | Family |
| IPR055251 | SOS1_NGEF_PH | Domain |
Pfam: PF00169, PF00621, PF01363, PF22697
UniProt features (27 total): binding site 8, splice variant 8, domain 3, modified residue 3, chain 1, sequence variant 1, zinc finger region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z6J4-F1 | 77.12 | 0.38 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 484; 489; 492; 510; 513; 464; 467; 481
Post-translational modifications (3): 11, 48, 654
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-193648 | NRAGE signals death through JNK |
| R-HSA-416482 | G alpha (12/13) signalling events |
| R-HSA-9013148 | CDC42 GTPase cycle |
MSigDB gene sets: 179 (showing top):
GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK, TGACCTY_ERR1_Q2, GOCC_RUFFLE, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, COATES_MACROPHAGE_M1_VS_M2_UP, MAF_Q6, GOBP_CELL_PROJECTION_ORGANIZATION, RGAGGAARY_PU1_Q6, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_FILOPODIUM_ASSEMBLY
GO Biological Process (6): cytoskeleton organization (GO:0007010), regulation of cell shape (GO:0008360), actin cytoskeleton organization (GO:0030036), regulation of GTPase activity (GO:0043087), filopodium assembly (GO:0046847), regulation of small GTPase mediated signal transduction (GO:0051056)
GO Molecular Function (6): guanyl-nucleotide exchange factor activity (GO:0005085), zinc ion binding (GO:0008270), small GTPase binding (GO:0031267), phosphatidylinositol phosphate binding (GO:1901981), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (14): ruffle (GO:0001726), nucleus (GO:0005634), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoskeleton (GO:0005856), lamellipodium (GO:0030027), early endosome membrane (GO:0031901), ruffle membrane (GO:0032587), endosome (GO:0005768), early endosome (GO:0005769), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Cell death signalling via NRAGE, NRIF and NADE | 1 |
| GPCR downstream signalling | 1 |
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cell leading edge | 2 |
| plasma membrane bounded cell projection | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| organelle organization | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| GTPase activity | 1 |
| regulation of hydrolase activity | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| transition metal ion binding | 1 |
| GTPase binding | 1 |
| phospholipid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| ruffle | 1 |
| cell projection membrane | 1 |
| leading edge membrane | 1 |
| cytoplasmic vesicle | 1 |
| endosome | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
418 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FGD2 | GPSM3 | Q9Y4H4 | 558 |
| FGD2 | KBTBD11 | O94819 | 492 |
| FGD2 | TCF19 | Q9Y242 | 489 |
| FGD2 | CRIP1 | P50238 | 468 |
| FGD2 | INPP5F | Q9Y2H2 | 462 |
| FGD2 | SHC2 | P98077 | 443 |
| FGD2 | ANKLE1 | Q8NAG6 | 424 |
| FGD2 | ADAP2 | Q9NPF8 | 407 |
| FGD2 | BCL2L14 | Q9BZR8 | 340 |
| FGD2 | HLA-DQB2 | P05538 | 319 |
| FGD2 | LRP8 | Q14114 | 315 |
| FGD2 | C6orf15 | Q6UXA7 | 299 |
| FGD2 | LTB | P78370 | 295 |
| FGD2 | DHCR24 | Q15392 | 269 |
| FGD2 | E2F8 | A0AVK6 | 265 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FGD2 | KLHL12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FGD2 | TMEM239 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM239 | FGD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLEKHG4 | FGD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FGD2 | RPRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| Arhgap15 | FGD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FGD2 | Arhgap18 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FGD2 | TCERG1 | psi-mi:“MI:0914”(association) | 0.350 |
| RNPS1 | FGD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FGD2 | PLEKHG4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FGD2 | RPRM | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (27): FGD2 (Two-hybrid), TMEM239 (Two-hybrid), RPRM (Two-hybrid), PLEKHG4 (Two-hybrid), ARHGAP18 (Affinity Capture-Western), FGD2 (FRET), FGD2 (Affinity Capture-MS), TMEM263 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), PKP2 (Affinity Capture-MS), TCERG1 (Affinity Capture-MS), ARHGAP18 (Affinity Capture-MS), CAND1 (Affinity Capture-MS), CSTA (Affinity Capture-MS), HMGN1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2JXN2, A2AWP8, O88842, O95267, P29590, P52734, P98174, Q1LY10, Q29RM4, Q2TBA3, Q3TAA7, Q3U0J8, Q3UTZ3, Q496Y0, Q4VX76, Q568M3, Q58D15, Q5BIM1, Q5JSP0, Q5R5M3, Q5R5T1, Q5REJ9, Q5W0U4, Q68FF6, Q69Z89, Q69ZK0, Q6PFY8, Q7TNM2, Q7Z4K8, Q7Z5H3, Q7Z6J4, Q80V85, Q8BY35, Q8BZ52, Q8C190, Q8N1F8, Q8TCU6, Q8WVR3, Q96JH8, Q99N48
Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A2QWA2, A4QTV1, A8QCE4, A8XJZ8, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D3ZVP7, D4A8G9, E1BLZ4, F1MM41, F7EP40, O13821, O14964, O59722, O76902, O95405, O96838, P0CS26, P0CS27, P34756, P40343, Q05B78, Q08CN9, Q0CJV3, Q0P4S0, Q0U4Z8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FGD2 | “up-regulates activity” | CDC42 | “guanine nucleotide exchange factor” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
136 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 108 |
| Likely benign | 5 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3585 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:37009075:GGC:G | donor_gain | 1.0000 |
| 6:37010961:A:AG | acceptor_gain | 1.0000 |
| 6:37011018:GCC:G | donor_gain | 1.0000 |
| 6:37011063:G:GT | donor_gain | 1.0000 |
| 6:37013605:GCA:G | acceptor_loss | 1.0000 |
| 6:37013607:A:AG | acceptor_gain | 1.0000 |
| 6:37013607:AG:A | acceptor_gain | 1.0000 |
| 6:37013608:G:GT | acceptor_gain | 1.0000 |
| 6:37013608:GG:G | acceptor_gain | 1.0000 |
| 6:37013608:GGA:G | acceptor_gain | 1.0000 |
| 6:37013608:GGAC:G | acceptor_gain | 1.0000 |
| 6:37013608:GGACA:G | acceptor_gain | 1.0000 |
| 6:37013745:G:GT | donor_gain | 1.0000 |
| 6:37013763:CAGG:C | donor_loss | 1.0000 |
| 6:37013764:AGGTG:A | donor_loss | 1.0000 |
| 6:37013765:GG:G | donor_loss | 1.0000 |
| 6:37013766:GTG:G | donor_loss | 1.0000 |
| 6:37013767:T:A | donor_loss | 1.0000 |
| 6:37013935:C:CA | acceptor_gain | 1.0000 |
| 6:37013940:T:A | acceptor_gain | 1.0000 |
| 6:37013949:A:AG | acceptor_gain | 1.0000 |
| 6:37013950:T:G | acceptor_gain | 1.0000 |
| 6:37013959:A:AG | acceptor_gain | 1.0000 |
| 6:37013960:A:G | acceptor_gain | 1.0000 |
| 6:37014099:GA:G | donor_gain | 1.0000 |
| 6:37014101:G:GG | donor_gain | 1.0000 |
| 6:37014106:G:GT | donor_gain | 1.0000 |
| 6:37014126:GGGGC:G | donor_gain | 1.0000 |
| 6:37014138:GCC:G | donor_gain | 1.0000 |
| 6:37015034:TCTTG:T | donor_gain | 1.0000 |
AlphaMissense
4295 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:37015791:T:G | C351W | 0.999 |
| 6:37022302:T:C | C464R | 0.999 |
| 6:37022347:C:G | H479D | 0.999 |
| 6:37022302:T:A | C464S | 0.998 |
| 6:37022303:G:C | C464S | 0.998 |
| 6:37022304:C:G | C464W | 0.998 |
| 6:37022323:T:C | F471L | 0.998 |
| 6:37022325:C:A | F471L | 0.998 |
| 6:37022325:C:G | F471L | 0.998 |
| 6:37022350:C:G | H480D | 0.998 |
| 6:37022353:T:A | C481S | 0.998 |
| 6:37022353:T:C | C481R | 0.998 |
| 6:37022354:G:C | C481S | 0.998 |
| 6:37022355:C:G | C481W | 0.998 |
| 6:37025798:T:C | C489R | 0.998 |
| 6:37025861:T:C | C510R | 0.998 |
| 6:37011034:T:C | L121P | 0.997 |
| 6:37015790:G:A | C351Y | 0.997 |
| 6:37020611:T:C | L398P | 0.997 |
| 6:37020731:T:A | W409R | 0.997 |
| 6:37020731:T:C | W409R | 0.997 |
| 6:37022344:C:A | R478S | 0.997 |
| 6:37022354:G:A | C481Y | 0.997 |
| 6:37014011:C:A | P245Q | 0.996 |
| 6:37014021:A:C | R248S | 0.996 |
| 6:37014021:A:T | R248S | 0.996 |
| 6:37015781:T:C | L348P | 0.996 |
| 6:37015789:T:C | C351R | 0.996 |
| 6:37022303:G:A | C464Y | 0.996 |
| 6:37022303:G:T | C464F | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000463048 (6:37003898 G>A), RS1000791049 (6:37006956 G>A), RS1001133133 (6:37013025 A>T), RS1001260623 (6:37023737 G>A), RS1001474845 (6:37028766 G>A), RS1001776091 (6:37008150 G>A), RS1001785994 (6:37025403 G>C,T), RS1002109615 (6:37006844 C>A,G,T), RS1002111354 (6:37026302 C>T), RS1002144809 (6:37015110 C>G,T), RS1002304929 (6:37020864 GGGGA>G), RS1002363955 (6:37017190 T>C), RS1002380098 (6:37009430 CA>C), RS1002589521 (6:37022193 A>G,T), RS1002689750 (6:37016083 T>A,C)
Disease associations
OMIM: gene MIM:605091 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_11 | Acne (severe) | 2.000000e-06 |
| GCST004735_16 | Epstein-Barr virus copy number in lymphoblastoid cell lines | 3.000000e-06 |
| GCST005790_69 | Rosacea symptom severity | 2.000000e-06 |
| GCST007932_60 | Medication use (thyroid preparations) | 5.000000e-08 |
| GCST90002393_77 | Monocyte count | 6.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009180 | rosacea severity measurement |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0005091 | monocyte count |
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
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects response to substance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Succimer | increases expression, affects cotreatment | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Perfume | increases expression | 1 |
| Smoke | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Permethrin | increases expression | 1 |
| Magnetite Nanoparticles | affects cotreatment, 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Epstein-Barr virus infection