XPOT
gene geneOn this page
Also known as XPO3
Summary
XPOT (exportin for tRNA, HGNC:12826) is a protein-coding gene on chromosome 12q14.2, encoding Exportin-T (O43592). Mediates the nuclear export of aminoacylated tRNAs. It is a selective cancer dependency (DepMap: 52.1% of cell lines).
This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN.
Source: NCBI Gene 11260 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 97 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 52.1% of screened cell lines
- MANE Select transcript:
NM_007235
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12826 |
| Approved symbol | XPOT |
| Name | exportin for tRNA |
| Location | 12q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | XPO3 |
| Ensembl gene | ENSG00000184575 |
| Ensembl biotype | protein_coding |
| OMIM | 603180 |
| Entrez | 11260 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 25 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000332707, ENST00000400935, ENST00000538086, ENST00000540203, ENST00000541842, ENST00000542958, ENST00000904846, ENST00000904847, ENST00000904848, ENST00000904849, ENST00000936969, ENST00000936970, ENST00000936971, ENST00000936972, ENST00000936973, ENST00000936974, ENST00000936975, ENST00000936976, ENST00000936977, ENST00000936978, ENST00000936979, ENST00000936980, ENST00000936981, ENST00000936982, ENST00000971590, ENST00000971591, ENST00000971592, ENST00000971593
RefSeq mRNA: 1 — MANE Select: NM_007235
NM_007235
CCDS: CCDS31852
Canonical transcript exons
ENST00000332707 — 25 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001291464 | 64414907 | 64414989 |
| ENSE00001292335 | 64420353 | 64420521 |
| ENSE00001293584 | 64423005 | 64423043 |
| ENSE00001294132 | 64433414 | 64433603 |
| ENSE00001297593 | 64445075 | 64445131 |
| ENSE00001300734 | 64448105 | 64451125 |
| ENSE00001305262 | 64434794 | 64434909 |
| ENSE00001306500 | 64439244 | 64439315 |
| ENSE00001312482 | 64421235 | 64421471 |
| ENSE00001313860 | 64423182 | 64423244 |
| ENSE00001320499 | 64418046 | 64418115 |
| ENSE00001325911 | 64425038 | 64425182 |
| ENSE00001327017 | 64409962 | 64410095 |
| ENSE00001328379 | 64434507 | 64434623 |
| ENSE00001328493 | 64416698 | 64416754 |
| ENSE00001329705 | 64435627 | 64435674 |
| ENSE00001366258 | 64404392 | 64404804 |
| ENSE00001504997 | 64420070 | 64420254 |
| ENSE00001504998 | 64418876 | 64419094 |
| ENSE00003507692 | 64424599 | 64424723 |
| ENSE00003532037 | 64428051 | 64428120 |
| ENSE00003617664 | 64431538 | 64431823 |
| ENSE00003621476 | 64430049 | 64430287 |
| ENSE00003651765 | 64425815 | 64425909 |
| ENSE00003739826 | 64425338 | 64425457 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 97.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.2131 / max 390.2685, expressed in 1819 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 126439 | 20.2709 | 1772 |
| 126437 | 16.4149 | 1776 |
| 126436 | 11.1228 | 1726 |
| 126435 | 7.5644 | 1688 |
| 126438 | 2.0612 | 1221 |
| 126442 | 1.1263 | 666 |
| 126440 | 0.2763 | 98 |
| 126434 | 0.2628 | 121 |
| 126441 | 0.1134 | 43 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 97.01 | gold quality |
| endothelial cell | CL:0000115 | 95.30 | silver quality |
| endometrium epithelium | UBERON:0004811 | 94.46 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.35 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.18 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.12 | gold quality |
| bone marrow cell | CL:0002092 | 93.91 | gold quality |
| ventricular zone | UBERON:0003053 | 93.90 | gold quality |
| body of pancreas | UBERON:0001150 | 93.44 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.26 | gold quality |
| pancreas | UBERON:0001264 | 92.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.04 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.81 | gold quality |
| vermiform appendix | UBERON:0001154 | 91.71 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.15 | silver quality |
| tendon | UBERON:0000043 | 90.78 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.60 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.18 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.90 | gold quality |
| ectocervix | UBERON:0012249 | 89.86 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.83 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.82 | gold quality |
| secondary oocyte | CL:0000655 | 89.78 | gold quality |
| tibial nerve | UBERON:0001323 | 89.73 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.63 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.61 | gold quality |
| minor salivary gland | UBERON:0001830 | 89.61 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.59 | gold quality |
| monocyte | CL:0000576 | 89.51 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.45 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 1202.71 |
| E-MTAB-7303 | no | 49.48 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting XPOT, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 52.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- Results suggest that decreased expression of exportin-1 and exportin-t induced by 1alpha,25-dihydroxyvitamin D3 can be correlated to inhibition of the proliferation of HL-60 cells. (PMID:16707848)
- Exportin-t preferentially binds and exports those tRNAs that are rapidly consumed by the protein synthesis machinery. (PMID:17224653)
- Results indicated that hepatocellular carcinoma (HCC) patients with high XPOT expression level had poor prognosis. XPOT promotes tumor proliferation and invasion in HCC and may affect the tumor cell cycle through ubiquitin-mediated proteolysis. (PMID:30334580)
- Exportin-T: A Novel Prognostic Predictor and Potential Therapeutic Target for Neuroblastoma. (PMID:34469238)
- XPOT Disruption Suppresses TNBC Growth through Inhibition of Specific tRNA Nuclear Exportation and TTC19 Expression to Induce Cytokinesis Failure. (PMID:37928256)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | xpot | ENSDARG00000099652 |
| mus_musculus | Xpot | ENSMUSG00000034667 |
| rattus_norvegicus | Xpot | ENSRNOG00000007088 |
| caenorhabditis_elegans | WBGENE00002080 |
Protein
Protein identifiers
Exportin-T — O43592 (reviewed: O43592)
Alternative names: Exportin(tRNA), tRNA exportin
All UniProt accessions (4): O43592, F5GYW6, F5GZM3, F8WDU6
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA 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 tRNA from the export receptor. XPOT 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. Found in a complex with XPOT, Ran and tRNA. Probably found in a complex with nucleoporins. Interacts with Ran and tRNA in a GTP-dependent manner.
Subcellular location. Nucleus. Cytoplasm.
Similarity. Belongs to the exportin family.
RefSeq proteins (1): NP_009166* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001494 | Importin-beta_N | Domain |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR013598 | Exportin-1/Importin-b-like | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR040017 | XPOT | Family |
| IPR045546 | Exportin-T_C | Domain |
Pfam: PF03810, PF08389, PF19282
UniProt features (13 total): mutagenesis site 5, region of interest 2, modified residue 2, sequence variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43592-F1 | 91.53 | 0.76 |
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): 1, 634
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 548–552 | does not abolish binding to trna. does not abolish shuttling behavior. |
| 550–557 | abolishes binding to trna. does not abolish shuttling behavior. |
| 405–409 | abolishes binding to trna. does not abolish shuttling behavior. |
| 539–543 | does not abolish binding to trna. does not abolish shuttling behavior. |
| 547–551 | does not abolish binding to trna. does not abolish shuttling behavior. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6784531 | tRNA processing in the nucleus |
MSigDB gene sets: 240 (showing top):
MORF_MTA1, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MORF_BUB1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, BASSO_B_LYMPHOCYTE_NETWORK, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, MORF_HDAC2, GOMF_GTPASE_BINDING, EFC_Q6, ZHAN_MULTIPLE_MYELOMA_CD1_UP, PATIL_LIVER_CANCER, GOBP_NUCLEAR_TRANSPORT, AP1_Q4_01, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN
GO Biological Process (4): tRNA export from nucleus (GO:0006409), intracellular protein transport (GO:0006886), tRNA re-export from nucleus (GO:0071528), nucleocytoplasmic transport (GO:0006913)
GO Molecular Function (4): tRNA binding (GO:0000049), small GTPase binding (GO:0031267), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (6): nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear matrix (GO:0016363), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| nuclear lumen | 2 |
| RNA export from nucleus | 1 |
| tRNA transport | 1 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| tRNA export from nucleus | 1 |
| nuclear transport | 1 |
| RNA binding | 1 |
| GTPase binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| nuclear envelope | 1 |
| nuclear protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1990 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| XPOT | XPO4 | Q9C0E2 | 973 |
| XPOT | XPO1 | O14980 | 929 |
| XPOT | RANGAP1 | P46060 | 871 |
| XPOT | CSE1L | P55060 | 836 |
| XPOT | RAN | P17080 | 831 |
| XPOT | IPO13 | O94829 | 783 |
| XPOT | IPO7 | O95373 | 767 |
| XPOT | IPO8 | O15397 | 753 |
| XPOT | XPO7 | Q9UIA9 | 744 |
| XPOT | IPO4 | Q8TEX9 | 727 |
| XPOT | XPO5 | Q9HAV4 | 704 |
| XPOT | IPO9 | Q96P70 | 704 |
| XPOT | XPO6 | Q96QU8 | 668 |
| XPOT | NXF1 | Q9UBU9 | 661 |
| XPOT | TNPO2 | O14787 | 642 |
IntAct
163 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| IFT27 | IFT56 | psi-mi:“MI:0914”(association) | 0.690 |
| XPOT | POU6F2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| XPOT | RAN | psi-mi:“MI:0915”(physical association) | 0.560 |
| XPOT | KRT75 | psi-mi:“MI:0915”(physical association) | 0.560 |
| XPOT | TRA2A | psi-mi:“MI:0915”(physical association) | 0.560 |
| EPHA1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| XPO1 | psi-mi:“MI:0914”(association) | 0.530 | |
| EGFR | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| ARRDC4 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| EGFR | XPOT | psi-mi:“MI:0914”(association) | 0.530 |
| EBNA-LP | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| rep | NKRF | psi-mi:“MI:0914”(association) | 0.500 |
| TGOLN2 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.420 |
| XPOT | CNPY3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ERF | XPOT | psi-mi:“MI:0915”(physical association) | 0.400 |
| Tube1 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| TENT5A | GOLGA8R | psi-mi:“MI:0914”(association) | 0.350 |
| ARMC6 | psi-mi:“MI:0914”(association) | 0.350 | |
| Hsph1 | USP9Y | psi-mi:“MI:0914”(association) | 0.350 |
| Samm50 | ZC3H18 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (275): XPOT (Affinity Capture-MS), XPOT (Affinity Capture-MS), XPOT (Affinity Capture-MS), GCSH (Co-fractionation), NAA40 (Co-fractionation), PSMA3 (Co-fractionation), PSMA4 (Co-fractionation), WDR11 (Co-fractionation), XPOT (Co-fractionation), XPOT (Affinity Capture-MS), XPOT (Affinity Capture-MS), XPOT (Affinity Capture-MS), XPOT (Affinity Capture-MS), XPOT (Affinity Capture-MS), XPOT (Affinity Capture-MS)
ESM2 similar proteins: A0JMZ3, A7YWD2, A9UHW6, F4IRR2, F4J738, O35841, O43592, O75031, O94829, O95373, Q05AL1, Q15386, Q2KI54, Q3UBZ5, Q3UFS0, Q3ZC21, Q53I77, Q5R644, Q5R6S3, Q5R974, Q5RA02, Q5SPJ8, Q5TYQ1, Q5ZIC8, Q5ZJZ6, Q6AXU7, Q6NTZ5, Q6P2B1, Q6QI06, Q6R327, Q7Z3V4, Q80U95, Q8BHL5, Q8IUR7, Q8K0C1, Q8QHJ8, Q8R5L3, Q91W86, Q924Z6, Q96JC1
Diamond homologs: O43592, Q5RA02, Q5SPJ8, Q9CRT8
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RAN | “up-regulates activity” | XPOT | binding |
| XPOT | “up-regulates activity” | NPC | binding |
| NPC | “up-regulates quantity” | XPOT | relocalization |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 186 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 |
|---|---|---|---|
| cell surface receptor protein tyrosine kinase signaling pathway | 9 | 10.6× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
97 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 78 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3044 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:64404703:G:GT | donor_gain | 1.0000 |
| 12:64409954:T:TA | acceptor_gain | 1.0000 |
| 12:64409956:T:TA | acceptor_gain | 1.0000 |
| 12:64409957:G:A | acceptor_gain | 1.0000 |
| 12:64409957:GGCA:G | acceptor_loss | 1.0000 |
| 12:64409959:CAGA:C | acceptor_loss | 1.0000 |
| 12:64409960:A:AG | acceptor_gain | 1.0000 |
| 12:64409960:A:C | acceptor_loss | 1.0000 |
| 12:64409960:AGAT:A | acceptor_gain | 1.0000 |
| 12:64409961:G:GG | acceptor_gain | 1.0000 |
| 12:64409961:GA:G | acceptor_gain | 1.0000 |
| 12:64409961:GAT:G | acceptor_gain | 1.0000 |
| 12:64409961:GATG:G | acceptor_gain | 1.0000 |
| 12:64409961:GATGT:G | acceptor_gain | 1.0000 |
| 12:64410091:AAAGG:A | donor_gain | 1.0000 |
| 12:64410092:AAGG:A | donor_gain | 1.0000 |
| 12:64410093:AGG:A | donor_gain | 1.0000 |
| 12:64410094:GG:G | donor_gain | 1.0000 |
| 12:64410094:GGG:G | donor_gain | 1.0000 |
| 12:64410095:GG:G | donor_gain | 1.0000 |
| 12:64410096:G:GA | donor_loss | 1.0000 |
| 12:64410096:G:GG | donor_gain | 1.0000 |
| 12:64410097:T:G | donor_loss | 1.0000 |
| 12:64414897:A:AG | acceptor_gain | 1.0000 |
| 12:64414898:A:G | acceptor_gain | 1.0000 |
| 12:64414904:TA:T | acceptor_loss | 1.0000 |
| 12:64414905:A:AG | acceptor_gain | 1.0000 |
| 12:64414905:AGGCC:A | acceptor_loss | 1.0000 |
| 12:64414906:G:GC | acceptor_loss | 1.0000 |
| 12:64414906:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
6358 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:64420096:A:C | K172N | 1.000 |
| 12:64420096:A:T | K172N | 1.000 |
| 12:64420107:G:T | R176M | 1.000 |
| 12:64420223:T:A | W215R | 1.000 |
| 12:64420223:T:C | W215R | 1.000 |
| 12:64420225:G:C | W215C | 1.000 |
| 12:64420225:G:T | W215C | 1.000 |
| 12:64425408:G:C | R508T | 1.000 |
| 12:64425409:A:C | R508S | 1.000 |
| 12:64425409:A:T | R508S | 1.000 |
| 12:64425836:G:C | G532R | 1.000 |
| 12:64425870:G:C | R543T | 1.000 |
| 12:64425870:G:T | R543M | 1.000 |
| 12:64430109:G:A | G600R | 1.000 |
| 12:64430109:G:C | G600R | 1.000 |
| 12:64430110:G:A | G600E | 1.000 |
| 12:64431545:A:C | S662R | 1.000 |
| 12:64431547:T:A | S662R | 1.000 |
| 12:64431547:T:G | S662R | 1.000 |
| 12:64431548:A:G | K663E | 1.000 |
| 12:64431549:A:T | K663I | 1.000 |
| 12:64431550:A:C | K663N | 1.000 |
| 12:64431550:A:T | K663N | 1.000 |
| 12:64431554:T:C | F665L | 1.000 |
| 12:64431556:C:A | F665L | 1.000 |
| 12:64431556:C:G | F665L | 1.000 |
| 12:64431686:C:G | H709D | 1.000 |
| 12:64431690:G:C | R710P | 1.000 |
| 12:64418915:A:G | K104E | 0.999 |
| 12:64418916:A:T | K104I | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000182374 (12:64428391 G>A), RS1000204092 (12:64417907 C>T), RS1000331263 (12:64408171 G>A), RS1000366052 (12:64434897 A>C), RS1000440734 (12:64414647 G>A), RS1000555329 (12:64415675 G>A,C), RS1000584817 (12:64423457 C>G,T), RS1000721150 (12:64409612 G>A), RS1000773987 (12:64415986 C>G), RS1000785679 (12:64408447 C>T), RS1000791628 (12:64416500 A>G), RS1000855883 (12:64415191 T>A), RS1000921285 (12:64430060 C>T), RS1000931060 (12:64410563 C>T), RS1000938102 (12:64403834 C>A,T)
Disease associations
OMIM: gene MIM:603180 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002390_66 | Mean corpuscular hemoglobin | 4.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105803 (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 |
|---|---|---|---|---|
| 7.53 | Kd | 29.87 | nM | CHEMBL5653589 |
| 7.53 | ED50 | 29.87 | nM | CHEMBL5653589 |
| 5.92 | Kd | 1216 | nM | CHEMBL3752910 |
| 5.92 | ED50 | 1216 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 12 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 | 2149790: Binding affinity to human XPOT incubated for 45 mins by Kinobead based pull down assay | kd | 0.0299 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149790: Binding affinity to human XPOT incubated for 45 mins by Kinobead based pull down assay | kd | 1.2163 | uM |
CTD chemical–gene interactions
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects expression, decreases expression | 5 |
| sodium arsenite | decreases expression, increases expression | 5 |
| Benzo(a)pyrene | increases methylation, decreases expression, increases expression | 4 |
| Cyclosporine | increases expression | 4 |
| Tretinoin | decreases expression | 3 |
| bisphenol F | increases expression, affects cotreatment, decreases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Calcitriol | decreases expression | 2 |
| Estradiol | increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| tremortin | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| methylparaben | increases expression | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| ochratoxin A | increases expression | 1 |
| 1-nitropyrene | increases expression | 1 |
| tamibarotene | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4012581 | Binding | Binding affinity to XPOT protein in human INA-6 cells after 3 hrs by nanoLC-MS/MS method | Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.