GNGT1
gene geneOn this page
Also known as GNG1
Summary
GNGT1 (G protein subunit gamma transducin 1, HGNC:4411) is a protein-coding gene on chromosome 7q21.3, encoding Guanine nucleotide-binding protein G(T) subunit gamma-T1 (P63211). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.
This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin.
Source: NCBI Gene 2792 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 11 total
- MANE Select transcript:
NM_021955
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4411 |
| Approved symbol | GNGT1 |
| Name | G protein subunit gamma transducin 1 |
| Location | 7q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GNG1 |
| Ensembl gene | ENSG00000127928 |
| Ensembl biotype | protein_coding |
| OMIM | 189970 |
| Entrez | 2792 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000248572, ENST00000428834, ENST00000429473, ENST00000430875, ENST00000455502, ENST00000926552
RefSeq mRNA: 2 — MANE Select: NM_021955
NM_001329426, NM_021955
CCDS: CCDS5633
Canonical transcript exons
ENST00000248572 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000877338 | 93906736 | 93906842 |
| ENSE00001086621 | 93910790 | 93911265 |
| ENSE00001274812 | 93906567 | 93906644 |
Expression profiles
Bgee: expression breadth broad, 52 present calls, max score 97.70.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.9374 / max 1920.5450, expressed in 20 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79573 | 2.9302 | 20 |
| 79572 | 0.0072 | 5 |
Top tissues by expression
232 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 97.70 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.21 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.12 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.85 | gold quality |
| placenta | UBERON:0001987 | 75.88 | gold quality |
| paraflocculus | UBERON:0005351 | 74.11 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 73.35 | silver quality |
| amniotic fluid | UBERON:0000173 | 70.62 | gold quality |
| endometrium epithelium | UBERON:0004811 | 70.36 | gold quality |
| lower lobe of lung | UBERON:0008949 | 56.57 | silver quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 55.46 | silver quality |
| cerebellar vermis | UBERON:0004720 | 53.48 | gold quality |
| monocyte | CL:0000576 | 52.49 | gold quality |
| mononuclear cell | CL:0000842 | 52.47 | gold quality |
| hair follicle | UBERON:0002073 | 52.43 | gold quality |
| thymus | UBERON:0002370 | 51.50 | silver quality |
| vastus lateralis | UBERON:0001379 | 50.88 | gold quality |
| leukocyte | CL:0000738 | 50.79 | gold quality |
| pancreatic ductal cell | CL:0002079 | 50.62 | silver quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 50.18 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 50.08 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.30 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| oviduct epithelium | UBERON:0004804 | 48.82 | gold quality |
| cortex of kidney | UBERON:0001225 | 48.73 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 23100.57 |
| E-GEOD-137537 | yes | 7507.00 |
| E-GEOD-135922 | yes | 6404.73 |
| E-GEOD-98556 | yes | 2041.73 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CRX
miRNA regulators (miRDB)
20 targeting GNGT1, 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-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-1244 | 99.33 | 68.38 | 832 |
| HSA-MIR-16-2-3P | 99.29 | 70.60 | 1954 |
| HSA-MIR-195-3P | 99.29 | 70.61 | 1954 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-4703-5P | 98.53 | 70.13 | 1645 |
| HSA-MIR-3942-5P | 98.52 | 69.51 | 1517 |
| HSA-MIR-633 | 98.35 | 69.45 | 1167 |
| HSA-MIR-4511 | 98.32 | 67.97 | 1500 |
| HSA-MIR-1279 | 97.83 | 67.50 | 1898 |
| HSA-MIR-376C-3P | 97.63 | 68.88 | 1263 |
| HSA-MIR-3972 | 97.19 | 66.46 | 808 |
| HSA-MIR-1202 | 97.19 | 66.43 | 827 |
Literature-anchored findings (GeneRIF, showing 7)
- G protein betagamma subunits stimulate type V and VI adenylyl cyclases (PMID:17110384)
- Gbetagamma mediates UVB-induced human keratinocyte apoptosis by augmenting the ectodomain shedding of HB-EGF, which sequentially activates EGFR and p38 (PMID:17548351)
- Gbetagamma subunits enter in a protein complex with activated Rap1a and its effector Radil; this complex is required downstream of receptor stimulation for the activation of integrins and the positive modulation of cell-matrix adhesiveness. (PMID:20048162)
- WDR26 is a novel Gbetagamma-binding protein that is required for the efficacy of Gbetagamma signaling and leukocyte migration (PMID:22065575)
- During corticogenesis, a cilium-transduced, noncanonical IGF-1R-Gbetagamma-phospho(T94)Tctex-1 signaling pathway promotes the proliferation of neural progenitors through modulation of ciliary resorption and G1 length. (PMID:23954591)
- PhLP1 binding stabilizes the Gbeta fold, disrupting interactions with CCT and releasing a PhLP1-Gbeta dimer for assembly with Ggamma. (PMID:25675501)
- Suggest Gbeta4gamma1 as a modulator of M3 muscarinic receptor signaling. (PMID:25916507)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gngt1 | ENSDARG00000035798 |
| mus_musculus | Gngt1 | ENSMUSG00000029663 |
| rattus_norvegicus | Gngt1 | ENSRNOG00000010546 |
| drosophila_melanogaster | Ggamma1 | FBGN0004921 |
Paralogs (11): GNG11 (ENSG00000127920), GNG5B (ENSG00000133136), GNG3 (ENSG00000162188), GNGT2 (ENSG00000167083), GNG8 (ENSG00000167414), GNG4 (ENSG00000168243), GNG12 (ENSG00000172380), GNG5 (ENSG00000174021), GNG7 (ENSG00000176533), GNG2 (ENSG00000186469), GNG10 (ENSG00000242616)
Protein
Protein identifiers
Guanine nucleotide-binding protein G(T) subunit gamma-T1 — P63211 (reviewed: P63211)
Alternative names: Transducin gamma chain
All UniProt accessions (2): P63211, C9JGI9
UniProt curated annotations — full annotation on UniProt →
Function. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
Subunit / interactions. G proteins are composed of 3 units, alpha, beta and gamma.
Subcellular location. Cell membrane.
Tissue specificity. Retinal rod outer segment.
Similarity. Belongs to the G protein gamma family.
RefSeq proteins (2): NP_001316355, NP_068774* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001770 | G-protein_gamma | Family |
| IPR015898 | G-protein_gamma-like_dom | Domain |
| IPR036284 | GGL_sf | Homologous_superfamily |
Pfam: PF00631
UniProt features (6 total): initiator methionine 1, chain 1, propeptide 1, modified residue 1, lipid moiety-binding region 1, sequence variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7L0P | ELECTRON MICROSCOPY | 4.1 |
| 7L0R | ELECTRON MICROSCOPY | 4.2 |
| 7L0Q | ELECTRON MICROSCOPY | 4.3 |
| 7L0S | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P63211-F1 | 89.14 | 0.65 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 71, 71
Function
Pathways and Gene Ontology
Reactome pathways
30 pathways
| ID | Pathway |
|---|---|
| R-HSA-1296041 | Activation of G protein gated Potassium channels |
| R-HSA-202040 | G-protein activation |
| R-HSA-2485179 | Activation of the phototransduction cascade |
| R-HSA-2514859 | Inactivation, recovery and regulation of the phototransduction cascade |
| R-HSA-381676 | Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
| R-HSA-392170 | ADP signalling through P2Y purinoceptor 12 |
| R-HSA-392451 | G beta:gamma signalling through PI3Kgamma |
| R-HSA-392851 | Prostacyclin signalling through prostacyclin receptor |
| R-HSA-400042 | Adrenaline,noradrenaline inhibits insulin secretion |
| R-HSA-4086398 | Ca2+ pathway |
| R-HSA-416476 | G alpha (q) signalling events |
| R-HSA-416482 | G alpha (12/13) signalling events |
| R-HSA-418217 | G beta:gamma signalling through PLC beta |
| R-HSA-418555 | G alpha (s) signalling events |
| R-HSA-418592 | ADP signalling through P2Y purinoceptor 1 |
| R-HSA-418594 | G alpha (i) signalling events |
| R-HSA-418597 | G alpha (z) signalling events |
| R-HSA-420092 | Glucagon-type ligand receptors |
| R-HSA-428930 | Thromboxane signalling through TP receptor |
| R-HSA-432040 | Vasopressin regulates renal water homeostasis via Aquaporins |
| R-HSA-456926 | Thrombin signalling through proteinase activated receptors (PARs) |
| R-HSA-500657 | Presynaptic function of Kainate receptors |
| R-HSA-6814122 | Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding |
| R-HSA-8964315 | G beta:gamma signalling through BTK |
| R-HSA-8964616 | G beta:gamma signalling through CDC42 |
| R-HSA-9009391 | Extra-nuclear estrogen signaling |
| R-HSA-9634597 | GPER1 signaling |
| R-HSA-9660821 | ADORA2B mediated anti-inflammatory cytokines production |
| R-HSA-9856530 | High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells |
| R-HSA-997272 | Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits |
MSigDB gene sets: 198 (showing top):
REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, REACTOME_ADRENALINE_NORADRENALINE_INHIBITS_INSULIN_SECRETION, REACTOME_POTASSIUM_CHANNELS, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, GOBP_PHOTOTRANSDUCTION, GOBP_NEUROGENESIS, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_RESPONSE_TO_OXYGEN_LEVELS, REACTOME_G_PROTEIN_ACTIVATION, GOBP_PHOTORECEPTOR_CELL_DEVELOPMENT
GO Biological Process (7): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), phototransduction (GO:0007602), intracellular protein localization (GO:0008104), cardiac muscle cell apoptotic process (GO:0010659), eye photoreceptor cell development (GO:0042462), cellular response to hypoxia (GO:0071456)
GO Molecular Function (3): GTPase activity (GO:0003924), G-protein beta-subunit binding (GO:0031681), protein binding (GO:0005515)
GO Cellular Component (6): photoreceptor inner segment (GO:0001917), heterotrimeric G-protein complex (GO:0005834), photoreceptor disc membrane (GO:0097381), photoreceptor outer segment (GO:0001750), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 5 |
| Signal amplification | 3 |
| The phototransduction cascade | 2 |
| Regulation of insulin secretion | 2 |
| G-protein beta:gamma signalling | 2 |
| G protein gated Potassium channels | 1 |
| Opioid Signalling | 1 |
| Platelet homeostasis | 1 |
| Beta-catenin independent WNT signaling | 1 |
| Class B/2 (Secretin family receptors) | 1 |
| Aquaporin-mediated transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| signal transduction | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| detection of light stimulus | 1 |
| macromolecule localization | 1 |
| striated muscle cell apoptotic process | 1 |
| eye photoreceptor cell differentiation | 1 |
| photoreceptor cell development | 1 |
| response to hypoxia | 1 |
| cellular response to stress | 1 |
| cellular response to decreased oxygen levels | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| protein binding | 1 |
| binding | 1 |
| extrinsic component of cytoplasmic side of plasma membrane | 1 |
| plasma membrane protein complex | 1 |
| GTPase complex | 1 |
| photoreceptor outer segment | 1 |
| organelle membrane | 1 |
| photoreceptor cell cilium | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1340 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GNGT1 | GNB1 | P04697 | 933 |
| GNGT1 | GNB3 | P16520 | 883 |
| GNGT1 | GNG4 | P50150 | 846 |
| GNGT1 | GNB4 | Q9HAV0 | 808 |
| GNGT1 | GNG13 | Q9P2W3 | 768 |
| GNGT1 | PDE6A | P16499 | 734 |
| GNGT1 | PDC | P20941 | 730 |
| GNGT1 | CNGB1 | Q14028 | 690 |
| GNGT1 | PDCL | Q13371 | 688 |
| GNGT1 | CRX | O43186 | 651 |
| GNGT1 | RHO | P08100 | 639 |
| GNGT1 | CNGA1 | P29973 | 637 |
| GNGT1 | GNAT1 | P11488 | 633 |
| GNGT1 | GNAO1 | P09471 | 620 |
| GNGT1 | GUCY2F | P51841 | 619 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GNB1 | GNAI1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| GNGT1 | GNB1 | psi-mi:“MI:0914”(association) | 0.770 |
| GNGT1 | Ntsr1 | psi-mi:“MI:0914”(association) | 0.750 |
| GNGT1 | Nts | psi-mi:“MI:0915”(physical association) | 0.670 |
| GNGT1 | GNB1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GNB4 | GNAI1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GNGT1 | GNB2 | psi-mi:“MI:0914”(association) | 0.620 |
| GNGT1 | GNB3 | psi-mi:“MI:0914”(association) | 0.620 |
| GNGT1 | ZNF277 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF277 | GNGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (31): ZNF277 (Two-hybrid), GNB1 (Reconstituted Complex), PDCL (Reconstituted Complex), GNGT1 (Affinity Capture-RNA), GNGT1 (Co-crystal Structure), GNGT1 (Two-hybrid), UBXN4 (Two-hybrid), MSANTD4 (Two-hybrid), ZNF277 (Two-hybrid), GNAS (Affinity Capture-MS), GNAQ (Affinity Capture-MS), NDOR1 (Affinity Capture-MS), GNB2 (Affinity Capture-MS), GNB1 (Affinity Capture-MS), GNAZ (Affinity Capture-MS)
ESM2 similar proteins: A0A804HLA8, O14610, O60262, O97564, P02698, P30671, P38040, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q4VT26, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q6CPB4
Diamond homologs: O14610, O60262, O97564, P02698, P30671, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q80SZ7, Q9CXP8, Q9DAS9, Q9NFZ2
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GNGT1 | up-regulates | PIK3CA | binding |
| SMO | up-regulates | GNGT1 | binding |
| FZD3 | up-regulates | GNGT1 | binding |
| GNGT1 | up-regulates | PLCG1 | binding |
| GNGT1 | up-regulates | PI3K | binding |
| GNGT1 | up-regulates | PIK3CG | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 14 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G protein-coupled receptor signaling pathway | 6 | 19.8× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
927 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:93886892:CAAAG:C | acceptor_gain | 1.0000 |
| 7:93886897:C:CC | acceptor_gain | 1.0000 |
| 7:93887432:C:CC | acceptor_gain | 1.0000 |
| 7:93887434:T:C | acceptor_gain | 1.0000 |
| 7:93889030:TTTA:T | donor_loss | 1.0000 |
| 7:93889031:TTACT:T | donor_loss | 1.0000 |
| 7:93889032:TACTT:T | donor_loss | 1.0000 |
| 7:93889033:A:AC | donor_gain | 1.0000 |
| 7:93889033:A:AT | donor_loss | 1.0000 |
| 7:93889034:C:CT | donor_gain | 1.0000 |
| 7:93889034:CT:C | donor_gain | 1.0000 |
| 7:93889034:CTTTT:C | donor_gain | 1.0000 |
| 7:93889113:C:CT | acceptor_gain | 1.0000 |
| 7:93889114:G:T | acceptor_gain | 1.0000 |
| 7:93889219:AACTT:A | acceptor_gain | 1.0000 |
| 7:93889220:ACTT:A | acceptor_loss | 1.0000 |
| 7:93889220:ACTTC:A | acceptor_gain | 1.0000 |
| 7:93889221:CTT:C | acceptor_gain | 1.0000 |
| 7:93889221:CTTCT:C | acceptor_gain | 1.0000 |
| 7:93889222:TT:T | acceptor_gain | 1.0000 |
| 7:93889223:TCT:T | acceptor_loss | 1.0000 |
| 7:93889224:C:CC | acceptor_gain | 1.0000 |
| 7:93889224:C:G | acceptor_loss | 1.0000 |
| 7:93889225:T:C | acceptor_loss | 1.0000 |
| 7:93890133:TTACT:T | donor_loss | 1.0000 |
| 7:93890135:A:AC | donor_gain | 1.0000 |
| 7:93890136:C:CC | donor_gain | 1.0000 |
| 7:93890136:CT:C | donor_gain | 1.0000 |
| 7:93890136:CTT:C | donor_gain | 1.0000 |
| 7:93890136:CTTT:C | donor_gain | 1.0000 |
AlphaMissense
483 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:93906811:T:C | L22P | 0.998 |
| 7:93906836:A:C | R30S | 0.998 |
| 7:93906836:A:T | R30S | 0.998 |
| 7:93906835:G:C | R30T | 0.995 |
| 7:93910879:T:A | N62K | 0.995 |
| 7:93910879:T:G | N62K | 0.995 |
| 7:93906808:A:C | Q21P | 0.994 |
| 7:93906835:G:T | R30I | 0.994 |
| 7:93910883:T:C | F64L | 0.994 |
| 7:93910885:C:A | F64L | 0.994 |
| 7:93910885:C:G | F64L | 0.994 |
| 7:93910824:T:A | V44D | 0.992 |
| 7:93910904:T:C | C71R | 0.991 |
| 7:93910845:A:C | D51A | 0.990 |
| 7:93910884:T:C | F64S | 0.990 |
| 7:93910844:G:C | D51H | 0.989 |
| 7:93910845:A:G | D51G | 0.989 |
| 7:93910880:C:T | P63S | 0.989 |
| 7:93910845:A:T | D51V | 0.988 |
| 7:93910859:G:C | G56R | 0.988 |
| 7:93910877:A:G | N62D | 0.988 |
| 7:93906819:G:A | E25K | 0.987 |
| 7:93910851:T:A | L53Q | 0.987 |
| 7:93910851:T:C | L53P | 0.987 |
| 7:93910883:T:A | F64I | 0.986 |
| 7:93910888:G:C | K65N | 0.986 |
| 7:93910888:G:T | K65N | 0.986 |
| 7:93910906:T:G | C71W | 0.986 |
| 7:93910846:T:A | D51E | 0.984 |
| 7:93910846:T:G | D51E | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000114264 (7:93905467 G>A), RS1000316505 (7:93908379 G>A), RS1000792484 (7:93908096 C>T), RS1001137621 (7:93908478 G>A), RS1001775273 (7:93908776 G>A), RS1002229707 (7:93907208 GA>G), RS1002352712 (7:93905860 T>C,G), RS1003127513 (7:93909642 T>A), RS1003262568 (7:93904867 C>A,T), RS1003444968 (7:93909947 A>G,T), RS1004016710 (7:93908261 T>C), RS1004262198 (7:93907457 T>A), RS1005348516 (7:93904613 A>G), RS1005900946 (7:93909106 TACG>T), RS1006361572 (7:93906774 A>G)
Disease associations
OMIM: gene MIM:189970 | 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
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003818_37 | Resting heart rate | 5.000000e-21 |
| GCST004863_15 | Mosquito bite size | 2.000000e-07 |
| GCST005789_12 | Resting heart rate | 2.000000e-07 |
| GCST005804_1 | Taxane-induced peripheral neuropathy in breast cancer | 1.000000e-07 |
| GCST005846_6 | Heart rate response to recovery post exercise (10 sec) | 7.000000e-12 |
| GCST005847_8 | Heart rate response to recovery post exercise (20 sec) | 9.000000e-11 |
| GCST005848_14 | Heart rate response to recovery post exercise (50 sec) | 4.000000e-11 |
| GCST005849_13 | Heart rate response to recovery post exercise (40 sec) | 2.000000e-12 |
| GCST005850_5 | Heart rate response to recovery post exercise (30 sec) | 2.000000e-11 |
| GCST008158_67 | Body mass index | 1.000000e-07 |
| GCST010989_121 | Body size at age 10 | 5.000000e-21 |
| GCST90000025_305 | Appendicular lean mass | 2.000000e-23 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0009185 | heart rate response to recovery post exercise |
| EFO:0004340 | body mass index |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0004980 | appendicular lean mass |
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 |
|---|---|---|
| trichostatin A | affects cotreatment, increases expression | 3 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| ferrous chloride | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| clothianidin | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| Poly(amidoamine) | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| tianma gouteng yin | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Barium | affects binding, decreases reaction, increases transport | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Mercury | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Acrylamide | 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.