NMD3
gene geneOn this page
Also known as CGI-07
Summary
NMD3 (NMD3 ribosome export adaptor, HGNC:24250) is a protein-coding gene on chromosome 3q26.1, encoding 60S ribosomal export protein NMD3 (Q96D46). Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit. It is a common-essential gene (DepMap: required in 99.1% of cancer cell lines).
Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date.
Source: NCBI Gene 51068 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 107 total
- Cancer dependency (DepMap): dependent in 99.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_015938
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24250 |
| Approved symbol | NMD3 |
| Name | NMD3 ribosome export adaptor |
| Location | 3q26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-07 |
| Ensembl gene | ENSG00000169251 |
| Ensembl biotype | protein_coding |
| OMIM | 611021 |
| Entrez | 51068 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 25 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000351193, ENST00000460469, ENST00000460503, ENST00000463518, ENST00000468606, ENST00000472947, ENST00000473909, ENST00000476237, ENST00000478160, ENST00000493066, ENST00000878752, ENST00000878753, ENST00000878754, ENST00000878755, ENST00000878756, ENST00000878757, ENST00000878758, ENST00000878759, ENST00000878760, ENST00000917141, ENST00000917142, ENST00000945532, ENST00000945533, ENST00000945534, ENST00000945535, ENST00000945536, ENST00000945537
RefSeq mRNA: 2 — MANE Select: NM_015938
NM_001320227, NM_015938
CCDS: CCDS3194, CCDS82870
Canonical transcript exons
ENST00000351193 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001156866 | 161241046 | 161241163 |
| ENSE00001167635 | 161238730 | 161238826 |
| ENSE00001191920 | 161250256 | 161250326 |
| ENSE00001191924 | 161249454 | 161249560 |
| ENSE00001191928 | 161247258 | 161247330 |
| ENSE00001191931 | 161246336 | 161246448 |
| ENSE00001191935 | 161242508 | 161242653 |
| ENSE00001867144 | 161250780 | 161252307 |
| ENSE00001901424 | 161221311 | 161221409 |
| ENSE00002328297 | 161235122 | 161235212 |
| ENSE00003491779 | 161224930 | 161225064 |
| ENSE00003603326 | 161221994 | 161222057 |
| ENSE00003643985 | 161227247 | 161227343 |
| ENSE00003646777 | 161233399 | 161233479 |
| ENSE00003787073 | 161234727 | 161234855 |
| ENSE00003789249 | 161238113 | 161238191 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 98.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.8797 / max 517.2459, expressed in 1812 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 39604 | 39.2042 | 1812 |
| 39605 | 0.8955 | 385 |
| 203004 | 0.8200 | 343 |
| 39602 | 0.4901 | 306 |
| 39603 | 0.4699 | 254 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.40 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.44 | gold quality |
| upper leg skin | UBERON:0004262 | 96.77 | gold quality |
| skin of hip | UBERON:0001554 | 96.68 | gold quality |
| parotid gland | UBERON:0001831 | 96.59 | gold quality |
| secondary oocyte | CL:0000655 | 96.50 | gold quality |
| amniotic fluid | UBERON:0000173 | 96.41 | gold quality |
| parietal pleura | UBERON:0002400 | 96.37 | gold quality |
| visceral pleura | UBERON:0002401 | 96.33 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.31 | gold quality |
| tibia | UBERON:0000979 | 96.30 | gold quality |
| mammary duct | UBERON:0001765 | 96.14 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.78 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.71 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.68 | gold quality |
| gingiva | UBERON:0001828 | 95.53 | gold quality |
| oocyte | CL:0000023 | 95.22 | gold quality |
| vena cava | UBERON:0004087 | 95.14 | gold quality |
| cardia of stomach | UBERON:0001162 | 95.11 | gold quality |
| pleura | UBERON:0000977 | 95.00 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.89 | gold quality |
| pylorus | UBERON:0001166 | 94.88 | gold quality |
| synovial joint | UBERON:0002217 | 94.64 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.59 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.55 | gold quality |
| saphenous vein | UBERON:0007318 | 94.43 | gold quality |
| superficial temporal artery | UBERON:0001614 | 94.39 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.38 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.11 | gold quality |
| tendon | UBERON:0000043 | 93.77 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.60 |
| E-ENAD-17 | no | 1762.64 |
| E-MTAB-10137 | no | 103.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
80 targeting NMD3, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.1% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 4)
- contains a CRM-1-dependent leucine-rich nuclear export signal and a complex, dispersed nuclear localization signal (NMD3) (PMID:12773398)
- The CRM1 and NMD3 have complex functions in pathways that couple rRNA synthetic and processing engines and that the rRNA synthesis rate may be adjusted according to proficiency in rRNA processing and export. (PMID:23782956)
- The presence of the rs34016896 allele in the NMD3 gene may contribute to the development of synucleinopathies. (PMID:29564728)
- The recessive and overdominant model of NMD3 rs34016896 was associated with cognitive impairment in Parkinson’s disease patients. (PMID:31937261)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nmd3 | ENSDARG00000015676 |
| mus_musculus | Nmd3 | ENSMUSG00000027787 |
| rattus_norvegicus | Nmd3 | ENSRNOG00000009310 |
| drosophila_melanogaster | Nmd3 | FBGN0023542 |
| caenorhabditis_elegans | T25G3.3 | WBGENE00012030 |
Protein
Protein identifiers
60S ribosomal export protein NMD3 — Q96D46 (reviewed: Q96D46)
All UniProt accessions (6): C9IY70, C9IZW9, C9J0B9, C9JA08, C9K0C2, Q96D46
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit.
Subunit / interactions. Found in a 60S ribosomal subunit export complex with RAN and XPO1. Interacts with XPO1. Associates with pre-60S ribosomal particles.
Subcellular location. Cytoplasm. Nucleus.
Similarity. Belongs to the NMD3 family.
RefSeq proteins (2): NP_001307156, NP_057022* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007064 | Nmd3_N | Domain |
| IPR039768 | Nmd3 | Family |
| IPR048898 | OB_NMD3 | Domain |
| IPR048899 | NMD_SH3 | Domain |
Pfam: PF04981, PF21192, PF21193
UniProt features (16 total): mutagenesis site 5, modified residue 5, short sequence motif 2, chain 1, region of interest 1, sequence conflict 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6LQM | ELECTRON MICROSCOPY | 3.09 |
| 6LSR | ELECTRON MICROSCOPY | 3.13 |
| 6LU8 | ELECTRON MICROSCOPY | 3.13 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96D46-F1 | 86.72 | 0.52 |
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 (5): 1, 258, 433, 468, 470
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 405 | reduces accumulation in the nucleus. loss of nucleolar localization; when associated with a-406. |
| 406 | reduces accumulation in the nucleus. loss of nucleolar localization; when associated with a-405. |
| 480 | reduces nuclear export. |
| 484 | reduces nuclear export. |
| 487 | reduces nuclear export. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 154 (showing top):
MODULE_97, GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, MODULE_182, chr3q26, GOBP_NUCLEAR_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS, VERNELL_RETINOBLASTOMA_PATHWAY_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, WANG_TARGETS_OF_MLL_CBP_FUSION_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE
GO Biological Process (4): ribosomal large subunit export from nucleus (GO:0000055), protein transport (GO:0015031), positive regulation of RNA biosynthetic process (GO:1902680), positive regulation of protein localization to nucleolus (GO:1904751)
GO Molecular Function (3): RNA binding (GO:0003723), protein-macromolecule adaptor activity (GO:0030674), ribosomal large subunit binding (GO:0043023)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nuclear lumen | 2 |
| ribosomal subunit export from nucleus | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| RNA biosynthetic process | 1 |
| positive regulation of RNA metabolic process | 1 |
| regulation of RNA biosynthetic process | 1 |
| positive regulation of protein localization to nucleus | 1 |
| protein localization to nucleolus | 1 |
| regulation of protein localization to nucleolus | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| ribosome binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2540 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NMD3 | XPO1 | O14980 | 990 |
| NMD3 | LSG1 | Q9H089 | 872 |
| NMD3 | RSL24D1 | Q9UHA3 | 843 |
| NMD3 | GNL2 | Q13823 | 842 |
| NMD3 | NSA2 | O95478 | 840 |
| NMD3 | MRTO4 | Q9UKD2 | 811 |
| NMD3 | MDN1 | Q9NU22 | 744 |
| NMD3 | RRP12 | Q5JTH9 | 744 |
| NMD3 | RPL10 | P27635 | 737 |
| NMD3 | GTPBP4 | Q9BZE4 | 727 |
| NMD3 | LTV1 | Q96GA3 | 725 |
| NMD3 | RPF2 | Q9H7B2 | 725 |
| NMD3 | RIOK2 | Q9BVS4 | 723 |
| NMD3 | WDR12 | Q9GZL7 | 708 |
| NMD3 | WDR74 | Q6RFH5 | 702 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GCLC | GCLM | psi-mi:“MI:0914”(association) | 0.790 |
| ATF2 | BACH1 | psi-mi:“MI:0914”(association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NMD3 | LNX2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| ST8SIA1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| NMD3 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC2 | PFDN1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| SGSH | FBXO21 | psi-mi:“MI:0914”(association) | 0.530 |
| DTX3 | ITSN1 | psi-mi:“MI:0914”(association) | 0.530 |
| rep | NKRF | psi-mi:“MI:0914”(association) | 0.500 |
| NMD3 | CSNK2A1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| XPO1 | NMD3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NMD3 | HAT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| GPD1 | IDH3B | psi-mi:“MI:0914”(association) | 0.350 |
| DTX3 | NDUFS6 | psi-mi:“MI:0914”(association) | 0.350 |
| CPEB1 | APBA3 | psi-mi:“MI:0914”(association) | 0.350 |
| SFTA2 | SEPTIN2 | psi-mi:“MI:0914”(association) | 0.350 |
| GSTT2B | SIRT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLX4 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD4 | KRT36 | psi-mi:“MI:0914”(association) | 0.350 |
| RMC1 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (152): NMD3 (Affinity Capture-MS), NMD3 (Affinity Capture-MS), NMD3 (Affinity Capture-MS), ARHGAP1 (Co-fractionation), CNBP (Co-fractionation), DIS3 (Co-fractionation), FLNA (Co-fractionation), GDI1 (Co-fractionation), GFPT1 (Co-fractionation), IMPDH2 (Co-fractionation), LSM7 (Co-fractionation), NMD3 (Co-fractionation), NMD3 (Co-fractionation), NMD3 (Co-fractionation), NMD3 (Co-fractionation)
ESM2 similar proteins: A2X0Q3, A2X8Q3, A3KMV5, A7YW45, O14744, O23979, O44081, O48556, O77814, O80585, O82597, O82793, P00366, P00367, P10860, P21216, P22314, P26443, P27793, P42174, P42898, P49448, P57720, P82264, Q02053, Q0DYB1, Q29504, Q43187, Q4R5M3, Q5BLF0, Q5I598, Q5R698, Q5RC82, Q5U300, Q60HE5, Q64HZ8, Q64HZ9, Q64I00, Q64I01, Q6GNS3
Diamond homologs: G0S488, P38861, Q08DS5, Q09817, Q55BF2, Q5BLF0, Q5RC82, Q6GNS3, Q6P2Z6, Q96D46, Q99L48
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2267 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:161221410:G:GG | donor_gain | 1.0000 |
| 3:161222058:G:GG | donor_gain | 1.0000 |
| 3:161224928:A:AG | acceptor_gain | 1.0000 |
| 3:161224929:G:GG | acceptor_gain | 1.0000 |
| 3:161227243:TTAG:T | acceptor_loss | 1.0000 |
| 3:161227245:A:T | acceptor_loss | 1.0000 |
| 3:161227246:GGT:G | acceptor_gain | 1.0000 |
| 3:161227339:GTAAG:G | donor_gain | 1.0000 |
| 3:161227342:AGGT:A | donor_loss | 1.0000 |
| 3:161233476:AGAGG:A | donor_loss | 1.0000 |
| 3:161233477:GAG:G | donor_gain | 1.0000 |
| 3:161233478:AGGT:A | donor_loss | 1.0000 |
| 3:161233479:GGT:G | donor_loss | 1.0000 |
| 3:161233481:T:G | donor_loss | 1.0000 |
| 3:161234876:G:GG | donor_gain | 1.0000 |
| 3:161238110:A:AG | acceptor_gain | 1.0000 |
| 3:161238110:AAGAT:A | acceptor_gain | 1.0000 |
| 3:161238111:A:G | acceptor_gain | 1.0000 |
| 3:161238111:AGAT:A | acceptor_gain | 1.0000 |
| 3:161238112:G:GG | acceptor_gain | 1.0000 |
| 3:161238112:GATG:G | acceptor_gain | 1.0000 |
| 3:161241069:A:AG | acceptor_gain | 1.0000 |
| 3:161241070:A:G | acceptor_gain | 1.0000 |
| 3:161241071:AACT:A | acceptor_gain | 1.0000 |
| 3:161241074:T:TA | acceptor_gain | 1.0000 |
| 3:161242501:T:G | acceptor_gain | 1.0000 |
| 3:161242506:A:AG | acceptor_gain | 1.0000 |
| 3:161242506:AGT:A | acceptor_gain | 1.0000 |
| 3:161242507:G:GA | acceptor_gain | 1.0000 |
| 3:161242507:GT:G | acceptor_gain | 1.0000 |
AlphaMissense
3365 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:161234848:G:T | R160M | 1.000 |
| 3:161249505:T:A | W419R | 1.000 |
| 3:161249505:T:C | W419R | 1.000 |
| 3:161224979:T:C | C32R | 0.999 |
| 3:161225048:T:A | C55S | 0.999 |
| 3:161225048:T:C | C55R | 0.999 |
| 3:161225049:G:A | C55Y | 0.999 |
| 3:161225049:G:C | C55S | 0.999 |
| 3:161225050:C:G | C55W | 0.999 |
| 3:161227300:T:C | L78P | 0.999 |
| 3:161233420:T:C | F100L | 0.999 |
| 3:161233422:T:A | F100L | 0.999 |
| 3:161233422:T:G | F100L | 0.999 |
| 3:161234790:T:A | C141S | 0.999 |
| 3:161234790:T:C | C141R | 0.999 |
| 3:161234791:G:A | C141Y | 0.999 |
| 3:161234791:G:C | C141S | 0.999 |
| 3:161234799:T:A | C144S | 0.999 |
| 3:161234799:T:C | C144R | 0.999 |
| 3:161234800:G:C | C144S | 0.999 |
| 3:161234826:T:A | W153R | 0.999 |
| 3:161234826:T:C | W153R | 0.999 |
| 3:161234848:G:C | R160T | 0.999 |
| 3:161234849:G:C | R160S | 0.999 |
| 3:161234849:G:T | R160S | 0.999 |
| 3:161238115:G:C | G194R | 0.999 |
| 3:161238116:G:A | G194D | 0.999 |
| 3:161241056:T:A | V255D | 0.999 |
| 3:161241114:T:G | C274W | 0.999 |
| 3:161246447:G:A | G377R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000066568 (3:161221700 T>C,G), RS1000097307 (3:161228035 G>A), RS1000183326 (3:161248214 G>A), RS1000351003 (3:161240484 A>C,G), RS1000371237 (3:161240845 T>G), RS1000507644 (3:161249688 T>C), RS1000553891 (3:161221733 G>A,C), RS1000641739 (3:161249321 C>G,T), RS1000762809 (3:161226412 A>C), RS1000820552 (3:161235386 T>C), RS1000866184 (3:161235391 A>T), RS1000871169 (3:161235023 GAAAA>G,GAAA), RS1000918271 (3:161235031 A>G), RS1000977981 (3:161242731 T>A,C), RS1001220063 (3:161246817 T>C)
Disease associations
OMIM: gene MIM:611021 | 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
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003262_485 | Post bronchodilator FEV1 | 8.000000e-07 |
| GCST003264_1101 | Post bronchodilator FEV1/FVC ratio | 4.000000e-06 |
| GCST006102_15 | Interleukin-10 levels | 2.000000e-06 |
| GCST007565_165 | Morning person | 3.000000e-15 |
| GCST007565_43 | Morning person | 2.000000e-14 |
| GCST007576_339 | Chronotype | 3.000000e-15 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004314 | forced expiratory volume |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004750 | interleukin 10 measurement |
| EFO:0008328 | chronotype measurement |
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
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases activity, affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Hydrogen Peroxide | affects expression, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Arsenic | affects expression, affects cotreatment, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Coal | increases abundance, decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, 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.