XPO7
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Also known as KIAA0745EXP7
Summary
XPO7 (exportin 7, HGNC:14108) is a protein-coding gene on chromosome 8p21.3, encoding Exportin-7 (Q9UIA9). Mediates the nuclear export of proteins (cargos) with broad substrate specificity.
The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.
Source: NCBI Gene 23039 — RefSeq curated summary.
At a glance
- Gene–disease (curated): prostate cancer (Limited, GenCC)
- GWAS associations: 36
- Clinical variants (ClinVar): 95 total
- Druggable target: yes
- MANE Select transcript:
NM_015024
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14108 |
| Approved symbol | XPO7 |
| Name | exportin 7 |
| Location | 8p21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0745, EXP7 |
| Ensembl gene | ENSG00000130227 |
| Ensembl biotype | protein_coding |
| OMIM | 606140 |
| Entrez | 23039 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 9 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000252512, ENST00000433566, ENST00000517551, ENST00000518017, ENST00000518808, ENST00000519769, ENST00000520754, ENST00000521303, ENST00000522015, ENST00000879830, ENST00000879831, ENST00000879832, ENST00000879833, ENST00000929054
RefSeq mRNA: 3 — MANE Select: NM_015024
NM_001100161, NM_001362802, NM_015024
CCDS: CCDS47818
Canonical transcript exons
ENST00000252512 — 28 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000893782 | 21995492 | 21995599 |
| ENSE00000893785 | 21991868 | 21991974 |
| ENSE00000893788 | 21990811 | 21990919 |
| ENSE00000893790 | 21990344 | 21990407 |
| ENSE00000893791 | 21989003 | 21989083 |
| ENSE00000893793 | 21987784 | 21987857 |
| ENSE00000893795 | 21987141 | 21987276 |
| ENSE00000893797 | 21985586 | 21985691 |
| ENSE00000893799 | 21984646 | 21984839 |
| ENSE00000893801 | 21982640 | 21982812 |
| ENSE00000893802 | 21981731 | 21981877 |
| ENSE00000893803 | 21980084 | 21980203 |
| ENSE00000893804 | 21977770 | 21977843 |
| ENSE00000893805 | 21976356 | 21976521 |
| ENSE00000980155 | 21998755 | 21998837 |
| ENSE00000980156 | 21999091 | 21999305 |
| ENSE00000980158 | 22002112 | 22002272 |
| ENSE00000980159 | 22003219 | 22003317 |
| ENSE00000980160 | 22003903 | 22004030 |
| ENSE00001040999 | 21994363 | 21994451 |
| ENSE00002102948 | 22004995 | 22006585 |
| ENSE00002115088 | 21919662 | 21919788 |
| ENSE00003504688 | 21970144 | 21970310 |
| ENSE00003511886 | 21971876 | 21971941 |
| ENSE00003559748 | 21969483 | 21969576 |
| ENSE00003648723 | 21974670 | 21974774 |
| ENSE00003662210 | 21966857 | 21967003 |
| ENSE00003785387 | 21999536 | 21999674 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 97.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.5777 / max 1789.9734, expressed in 1811 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 87654 | 15.1774 | 1797 |
| 87655 | 9.1497 | 1732 |
| 87657 | 1.0998 | 63 |
| 87656 | 0.7264 | 68 |
| 87653 | 0.2469 | 86 |
| 87658 | 0.1776 | 24 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trabecular bone tissue | UBERON:0002483 | 97.48 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 95.70 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 95.60 | gold quality |
| frontal pole | UBERON:0002795 | 95.45 | gold quality |
| bone marrow cell | CL:0002092 | 95.15 | gold quality |
| paraflocculus | UBERON:0005351 | 95.08 | gold quality |
| bone marrow | UBERON:0002371 | 94.88 | gold quality |
| cortical plate | UBERON:0005343 | 94.78 | gold quality |
| bone element | UBERON:0001474 | 94.15 | gold quality |
| ventricular zone | UBERON:0003053 | 94.00 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.85 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.93 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.82 | gold quality |
| embryo | UBERON:0000922 | 92.75 | gold quality |
| endometrium epithelium | UBERON:0004811 | 92.56 | gold quality |
| left ovary | UBERON:0002119 | 91.67 | gold quality |
| monocyte | CL:0000576 | 91.66 | gold quality |
| mononuclear cell | CL:0000842 | 91.65 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.58 | gold quality |
| rectum | UBERON:0001052 | 91.58 | gold quality |
| leukocyte | CL:0000738 | 91.55 | gold quality |
| ectocervix | UBERON:0012249 | 91.52 | gold quality |
| endocervix | UBERON:0000458 | 91.50 | gold quality |
| right ovary | UBERON:0002118 | 91.36 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.26 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.19 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.18 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.05 | gold quality |
| skin of leg | UBERON:0001511 | 90.90 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.81 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
185 targeting XPO7, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
Literature-anchored findings (GeneRIF, showing 12)
- Exportin 7-dependent nuclear export signals differ fundamentally from the leucine-rich, CRM1-dependent ones (PMID:15282546)
- STRADalpha facilitates nuclear export of LKB1 by serving as an adaptor between LKB1 and exportins CRM1 and exportin7. (PMID:18256292)
- These biochemical and functional data reveal RANBP16 and RANBP17 as novel regulators of E2A protein action, and demonstrate specific interaction of E12 with RANBP17. (PMID:20503194)
- Knockdown of XPO7 reduced the amount of nuclear p65 following TNF stimulation. XPO7 binding to p65 is NLS independent (PMID:23906023)
- RAN nucleo-cytoplasmic transport and mitotic spindle assembly partners XPO7 and TPX2 have roles in serous epithelial ovarian cancer (PMID:24625450)
- Human oligodendrogliomas cells stably expressing mutant XPO7 showed altered cell proliferation. (PMID:25694352)
- Knockdown of exportins 4, 5, and 7 altered thyroid hormone receptor shuttling dynamics, and when exportins 5 and 7 were overexpressed, TR distribution shifted toward the cytosol. (PMID:25911113)
- This establishes Xpo7 as a broad-spectrum bidirectional transporter and paves the way for a much deeper analysis of exportin and importin function in the future. (PMID:29748336)
- XPO7 is a tumor suppressor regulating p21(CIP1)-dependent senescence. (PMID:33602872)
- CRISPR-based screening identifies XPO7 as a positive regulator of senescence. (PMID:36897256)
- Exportin XPO7 acts as an oncogenic factor in prostate cancer via upregulation of TCF3. (PMID:37000263)
- The GWAS SNP rs80207740 modulates erythrocyte traits via allele-specific binding of IKZF1 and targeting XPO7 gene. (PMID:38780091)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | xpo7 | ENSDARG00000005540 |
| mus_musculus | Xpo7 | ENSMUSG00000022100 |
| rattus_norvegicus | Xpo7 | ENSRNOG00000013288 |
| drosophila_melanogaster | Ranbp16 | FBGN0053180 |
| caenorhabditis_elegans | WBGENE00007952 |
Paralogs (2): XPO4 (ENSG00000132953), RANBP17 (ENSG00000204764)
Protein
Protein identifiers
Exportin-7 — Q9UIA9 (reviewed: Q9UIA9)
Alternative names: Ran-binding protein 16
All UniProt accessions (4): Q9UIA9, E5RIW1, E7ESC6, H0YBE1
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.
Subunit / interactions. Binds to nucleoporins. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. Interacts with ARHGAP1 and SFN. Interacts with Ran and cargo proteins in a GTP-dependent manner.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Strong expression in testis, thyroid and bone marrow, low expression in lung, liver and small intestine, no expression in thymus, and remaining tissues studied have moderate expression. Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
Similarity. Belongs to the exportin family.
RefSeq proteins (3): NP_001093631, NP_001349731, NP_055839* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001494 | Importin-beta_N | Domain |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR044189 | XPO4/7-like | Family |
| IPR057947 | TPR_XPO7/RBP17 | Domain |
Pfam: PF03810, PF25795
UniProt features (8 total): modified residue 2, sequence variant 2, initiator methionine 1, chain 1, domain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UIA9-F1 | 87.45 | 0.55 |
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): 2, 570
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 270 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, MORF_MTA1, RNGTGGGC_UNKNOWN, MORF_DNMT1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MORF_HDAC1, MORF_CDK2, IVANOVA_HEMATOPOIESIS_MATURE_CELL, MORF_HDAC2, GOMF_GTPASE_BINDING, GGGTGGRR_PAX4_03, GNF2_ANK1, PATIL_LIVER_CANCER
GO Biological Process (6): protein export from nucleus (GO:0006611), intracellular protein transport (GO:0006886), nucleocytoplasmic transport (GO:0006913), protein transport (GO:0015031), nuclear export (GO:0051168), nuclear transport (GO:0051169)
GO Molecular Function (3): nuclear export signal receptor activity (GO:0005049), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nuclear pore (GO:0005643), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear export | 2 |
| intracellular protein localization | 2 |
| intracellular transport | 2 |
| intracellular protein transport | 1 |
| protein transport | 1 |
| nuclear transport | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| nucleocytoplasmic transport | 1 |
| intercellular transport | 1 |
| nucleocytoplasmic carrier activity | 1 |
| GTPase binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear envelope | 1 |
| nuclear protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1330 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| XPO7 | XPO6 | Q96QU8 | 805 |
| XPO7 | CSE1L | P55060 | 759 |
| XPO7 | XPOT | O43592 | 744 |
| XPO7 | XPO1 | O14980 | 674 |
| XPO7 | IPO13 | O94829 | 674 |
| XPO7 | IPO5 | O00410 | 655 |
| XPO7 | IPO4 | Q8TEX9 | 622 |
| XPO7 | TNPO2 | O14787 | 621 |
| XPO7 | TNPO1 | Q92973 | 615 |
| XPO7 | XPO5 | Q9HAV4 | 608 |
| XPO7 | IPO11 | Q9UI26 | 565 |
| XPO7 | XPO4 | Q9C0E2 | 564 |
| XPO7 | IPO8 | O15397 | 538 |
| XPO7 | IPO7 | O95373 | 520 |
| XPO7 | RANBP3 | Q9H6Z4 | 519 |
IntAct
210 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HRAS | RAF1 | psi-mi:“MI:0914”(association) | 0.980 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SCN2B | EXOC5 | psi-mi:“MI:0914”(association) | 0.640 |
| VSIG1 | TTI1 | psi-mi:“MI:0914”(association) | 0.640 |
| XPO7 | USO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USO1 | XPO7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CUTC | XPO7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAN | XPO7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| XPO7 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM108 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| VASN | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| FZD10 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| NT5E | SCAMP1 | psi-mi:“MI:0914”(association) | 0.530 |
| VSIG2 | TTI1 | psi-mi:“MI:0914”(association) | 0.530 |
| CD274 | TTI1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A9 | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| PDCD1 | RTL8C | psi-mi:“MI:0914”(association) | 0.530 |
| VSIG1 | TNPO2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (1164): XPO7 (Two-hybrid), XPO7 (Affinity Capture-RNA), XPO7 (Affinity Capture-RNA), XPO7 (Affinity Capture-RNA), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), DSCR3 (Co-fractionation)
ESM2 similar proteins: A1CAU2, A1DEK2, A2QMS5, A5D785, A5WW24, A6RVT8, A7EPT5, B0Y4D6, B2AXG6, B8ARW2, B9FDR3, O13671, O13864, O14089, O18388, O43747, O59809, P14068, P30822, P33307, P55060, Q06142, Q0CIL3, Q1DY99, Q2H6R9, Q2U3V3, Q4WUV9, Q54EV7, Q569Z2, Q5R9G4, Q5R9J2, Q5ZLT0, Q6GMY9, Q704U0, Q7PC79, Q7RWV9, Q7SZC2, Q8AY73, Q8H0U4, Q8K2V6
Diamond homologs: Q54DN3, Q569Z2, Q5R9G4, Q5ZLT0, Q704U0, Q99NF8, Q9EPK7, Q9GQN0, Q9H2T7, Q9UIA9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
95 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4040 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:21966999:G:GT | donor_gain | 1.0000 |
| 8:21966999:G:T | donor_gain | 1.0000 |
| 8:21966999:GAAGT:G | donor_gain | 1.0000 |
| 8:21967002:GT:G | donor_gain | 1.0000 |
| 8:21967004:GTGC:G | donor_gain | 1.0000 |
| 8:21967006:GC:G | donor_gain | 1.0000 |
| 8:21967008:G:GG | donor_gain | 1.0000 |
| 8:21967030:GA:G | donor_gain | 1.0000 |
| 8:21969480:C:G | acceptor_gain | 1.0000 |
| 8:21969481:A:AG | acceptor_gain | 1.0000 |
| 8:21969482:G:GG | acceptor_gain | 1.0000 |
| 8:21969482:GTC:G | acceptor_gain | 1.0000 |
| 8:21969482:GTCCT:G | acceptor_gain | 1.0000 |
| 8:21969572:TATTC:T | donor_gain | 1.0000 |
| 8:21969577:G:GG | donor_gain | 1.0000 |
| 8:21970142:A:AG | acceptor_gain | 1.0000 |
| 8:21970142:AG:A | acceptor_gain | 1.0000 |
| 8:21970142:AGG:A | acceptor_gain | 1.0000 |
| 8:21970143:G:GG | acceptor_gain | 1.0000 |
| 8:21970143:GG:G | acceptor_gain | 1.0000 |
| 8:21970143:GGG:G | acceptor_gain | 1.0000 |
| 8:21970143:GGGAA:G | acceptor_gain | 1.0000 |
| 8:21970307:ACAG:A | donor_loss | 1.0000 |
| 8:21970308:CAG:C | donor_loss | 1.0000 |
| 8:21970310:GG:G | donor_loss | 1.0000 |
| 8:21970311:G:GC | donor_loss | 1.0000 |
| 8:21974663:T:A | acceptor_gain | 1.0000 |
| 8:21974668:A:AG | acceptor_gain | 1.0000 |
| 8:21974669:G:GG | acceptor_gain | 1.0000 |
| 8:21974669:GGC:G | acceptor_gain | 1.0000 |
AlphaMissense
7158 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:21966987:T:C | L50P | 1.000 |
| 8:21966990:T:A | L51H | 1.000 |
| 8:21966990:T:C | L51P | 1.000 |
| 8:21969505:C:A | A63E | 1.000 |
| 8:21969508:C:A | A64D | 1.000 |
| 8:21969517:T:C | L67P | 1.000 |
| 8:21969565:G:C | R83P | 1.000 |
| 8:21970144:G:C | R87P | 1.000 |
| 8:21970207:T:C | L108P | 1.000 |
| 8:21970242:T:A | W120R | 1.000 |
| 8:21970242:T:C | W120R | 1.000 |
| 8:21971900:G:C | G151R | 1.000 |
| 8:21971901:G:A | G151D | 1.000 |
| 8:21971922:T:C | L158P | 1.000 |
| 8:21974701:G:C | R175T | 1.000 |
| 8:21974702:A:C | R175S | 1.000 |
| 8:21974702:A:T | R175S | 1.000 |
| 8:21974721:C:A | R182S | 1.000 |
| 8:21974722:G:C | R182P | 1.000 |
| 8:21976423:T:C | L222P | 1.000 |
| 8:21976447:A:T | D230V | 1.000 |
| 8:21976449:T:C | F231L | 1.000 |
| 8:21976451:C:A | F231L | 1.000 |
| 8:21976451:C:G | F231L | 1.000 |
| 8:21976455:G:C | G233R | 1.000 |
| 8:21976456:G:A | G233D | 1.000 |
| 8:21976504:C:A | P249H | 1.000 |
| 8:21976504:C:G | P249R | 1.000 |
| 8:21976512:T:A | W252R | 1.000 |
| 8:21976512:T:C | W252R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007426 (8:21919730 G>A,C,T), RS1000049065 (8:21955769 T>C), RS1000059439 (8:21988954 C>G,T), RS1000143429 (8:22002518 C>G), RS1000235806 (8:21918374 G>A), RS1000244590 (8:21995090 A>G), RS1000266911 (8:21918658 A>C), RS1000273526 (8:21984625 T>G), RS1000274333 (8:21954969 A>G), RS1000319347 (8:21928637 C>T), RS1000427354 (8:21960947 C>A,T), RS1000482308 (8:21972367 G>A,T), RS1000482694 (8:21924171 C>A), RS1000510062 (8:21966664 C>T), RS1000516890 (8:21949173 T>A)
Disease associations
OMIM: gene MIM:606140 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| prostate cancer | Limited | Autosomal dominant |
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
36 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000585_8 | Mean corpuscular volume | 3.000000e-08 |
| GCST004006_9 | Mean corpuscular hemoglobin | 5.000000e-07 |
| GCST004601_104 | Red blood cell count | 6.000000e-15 |
| GCST004602_62 | Mean corpuscular volume | 4.000000e-33 |
| GCST004630_266 | Mean corpuscular hemoglobin | 7.000000e-33 |
| GCST004749_22 | Lung cancer in ever smokers | 3.000000e-06 |
| GCST005993_40 | Mean corpuscular hemoglobin | 3.000000e-21 |
| GCST006011_72 | Mean corpuscular volume | 3.000000e-24 |
| GCST006061_184 | Atrial fibrillation | 4.000000e-15 |
| GCST006061_44 | Atrial fibrillation | 4.000000e-13 |
| GCST006414_130 | Atrial fibrillation | 4.000000e-10 |
| GCST008675_2 | Maximum habitual alcohol consumption | 2.000000e-08 |
| GCST008675_8 | Maximum habitual alcohol consumption | 4.000000e-08 |
| GCST009391_52 | Metabolite levels | 3.000000e-06 |
| GCST010002_271 | Refractive error | 2.000000e-17 |
| GCST010320_65 | PR interval | 6.000000e-07 |
| GCST010321_37 | PR interval | 1.000000e-08 |
| GCST010796_4381 | Electrocardiogram morphology (amplitude at temporal datapoints) | 8.000000e-11 |
| GCST010796_4382 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_4383 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_4384 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_4385 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-09 |
| GCST010796_4386 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-09 |
| GCST010796_4387 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-10 |
| GCST010796_4388 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-10 |
| GCST010796_4389 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-09 |
| GCST010796_4390 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-09 |
| GCST010796_4391 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST90002390_175 | Mean corpuscular hemoglobin | 2.000000e-70 |
| GCST90002392_344 | Mean corpuscular volume | 8.000000e-93 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004305 | erythrocyte count |
| EFO:0010474 | cystathionine measurement |
| EFO:0004462 | PR interval |
| EFO:0004327 | electrocardiography |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007984 | platelet component distribution width |
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: yes
ChEMBL targets (1): CHEMBL6067212 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.76 | Kd | 17.28 | nM | CHEMBL5653589 |
| 7.76 | ED50 | 17.28 | nM | CHEMBL5653589 |
| 7.29 | Kd | 51.68 | nM | CHEMBL3752910 |
| 7.29 | ED50 | 51.68 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149789: Binding affinity to human XPO7 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0173 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149789: Binding affinity to human XPO7 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0517 | uM |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| Acrolein | increases oxidation, increases abundance, affects cotreatment | 2 |
| Calcitriol | decreases expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol S | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Benztropine | affects cotreatment, increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cannabidiol | decreases expression | 1 |
| Coumestrol | increases expression | 1 |
| Cuprizone | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Ivermectin | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652831 | Binding | Binding affinity to human XPO7 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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
- Associated diseases: prostate carcinoma
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atrial fibrillation, lung carcinoma, prostate cancer