XPO6
gene geneOn this page
Also known as KIAA0370FLJ22519
Summary
XPO6 (exportin 6, HGNC:19733) is a protein-coding gene on chromosome 16p12.1, encoding Exportin-6 (Q96QU8). Mediates the nuclear export of actin and profilin-actin complexes in somatic cells.
The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms.
Source: NCBI Gene 23214 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 134 total
- Druggable target: yes
- MANE Select transcript:
NM_015171
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19733 |
| Approved symbol | XPO6 |
| Name | exportin 6 |
| Location | 16p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0370, FLJ22519 |
| Ensembl gene | ENSG00000169180 |
| Ensembl biotype | protein_coding |
| OMIM | 608411 |
| Entrez | 23214 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 18 protein_coding, 7 retained_intron, 5 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000304658, ENST00000561488, ENST00000562408, ENST00000563138, ENST00000564337, ENST00000564905, ENST00000565284, ENST00000565698, ENST00000566073, ENST00000566175, ENST00000567038, ENST00000567842, ENST00000568065, ENST00000569216, ENST00000569315, ENST00000569951, ENST00000569973, ENST00000570007, ENST00000570033, ENST00000570294, ENST00000573275, ENST00000573645, ENST00000574435, ENST00000864044, ENST00000864045, ENST00000917809, ENST00000917810, ENST00000917811, ENST00000917812, ENST00000917813, ENST00000917814, ENST00000959279
RefSeq mRNA: 2 — MANE Select: NM_015171
NM_001270940, NM_015171
CCDS: CCDS42135, CCDS59266
Canonical transcript exons
ENST00000304658 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000894427 | 28117318 | 28117462 |
| ENSE00000894431 | 28106383 | 28106497 |
| ENSE00000894432 | 28106043 | 28106214 |
| ENSE00000894433 | 28104546 | 28104707 |
| ENSE00000894434 | 28101847 | 28101945 |
| ENSE00001138571 | 28107522 | 28107677 |
| ENSE00001240103 | 28101458 | 28101688 |
| ENSE00001240202 | 28156074 | 28156527 |
| ENSE00001240225 | 28175898 | 28176095 |
| ENSE00001302411 | 28097976 | 28098639 |
| ENSE00001486703 | 28211366 | 28211965 |
| ENSE00003480535 | 28146094 | 28146203 |
| ENSE00003486261 | 28132334 | 28132403 |
| ENSE00003496978 | 28112904 | 28113050 |
| ENSE00003530652 | 28169750 | 28169909 |
| ENSE00003534764 | 28180941 | 28181031 |
| ENSE00003535147 | 28121670 | 28121762 |
| ENSE00003565069 | 28135216 | 28135324 |
| ENSE00003585617 | 28133841 | 28133933 |
| ENSE00003596766 | 28125689 | 28125848 |
| ENSE00003596825 | 28177220 | 28177332 |
| ENSE00003618847 | 28166508 | 28166585 |
| ENSE00003623040 | 28111817 | 28112006 |
| ENSE00003657774 | 28152659 | 28152785 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6588 / max 1433.0364, expressed in 1809 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156875 | 21.3291 | 1805 |
| 156874 | 5.9126 | 1591 |
| 156873 | 0.6940 | 280 |
| 156871 | 0.3306 | 105 |
| 156872 | 0.1371 | 44 |
| 156866 | 0.0969 | 16 |
| 156870 | 0.0641 | 21 |
| 156867 | 0.0555 | 12 |
| 156868 | 0.0388 | 9 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 98.91 | gold quality |
| granulocyte | CL:0000094 | 98.29 | gold quality |
| left testis | UBERON:0004533 | 98.16 | gold quality |
| right testis | UBERON:0004534 | 98.11 | gold quality |
| spleen | UBERON:0002106 | 98.10 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.01 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.71 | gold quality |
| nerve | UBERON:0001021 | 97.56 | gold quality |
| tibial nerve | UBERON:0001323 | 97.56 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.96 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.80 | gold quality |
| ventricular zone | UBERON:0003053 | 96.79 | gold quality |
| right lung | UBERON:0002167 | 96.78 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.69 | gold quality |
| cortical plate | UBERON:0005343 | 96.67 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.47 | gold quality |
| spinal cord | UBERON:0002240 | 96.45 | gold quality |
| testis | UBERON:0000473 | 96.44 | gold quality |
| skin of leg | UBERON:0001511 | 96.43 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 96.41 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.41 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.38 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.35 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.22 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.18 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.18 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.07 | gold quality |
| left uterine tube | UBERON:0001303 | 96.04 | gold quality |
| amygdala | UBERON:0001876 | 96.03 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.72 |
| E-MTAB-9689 | no | 191.46 |
| E-CURD-10 | no | 65.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting XPO6, 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-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-1272 | 99.34 | 68.79 | 878 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-100-3P | 99.20 | 67.33 | 672 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-3922-5P | 98.77 | 66.53 | 1059 |
| HSA-MIR-4773 | 98.35 | 67.30 | 1710 |
| HSA-MIR-6842-3P | 98.07 | 66.33 | 1325 |
| HSA-MIR-6529-5P | 97.85 | 66.47 | 673 |
| HSA-MIR-3921 | 97.81 | 67.45 | 1431 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-4430 | 97.47 | 65.61 | 1813 |
| HSA-MIR-7855-5P | 97.39 | 67.18 | 925 |
| HSA-MIR-2278 | 97.30 | 66.19 | 1130 |
Literature-anchored findings (GeneRIF, showing 6)
- identify exportin 6 (Exp6) as a novel family member from higher eukaryotes and show that it mediates nuclear export of profilin.actin complexes (PMID:14592989)
- Data suggest actin accumulation in senescent cells is due to the failure of RanGTP restoration with ATP deficiency and NTF2 accumulation, resulting in decreased actin export via Exp6 inactivation. (PMID:21195711)
- potential prognostic biomarker for predicting prostate cancer recurrence [meta-analysis] (PMID:26709895)
- These results shed light on the crucial role of LN1 in quiescence and differentiation and how defects in the LN1/PI3K/XPO6/N-actin axis explain the loss of tissue homeostasis and growth control that contributes to malignant progression. (PMID:28591581)
- The XPO6 Exportin Mediates Herpes Simplex Virus 1 gM Nuclear Release Late in Infection. (PMID:32817212)
- Cancer-associated exportin-6 upregulation inhibits the transcriptionally repressive and anticancer effects of nuclear profilin-1. (PMID:33596420)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | xpo6 | ENSDARG00000041217 |
| mus_musculus | Xpo6 | ENSMUSG00000000131 |
| rattus_norvegicus | Xpo6 | ENSRNOG00000016722 |
| drosophila_melanogaster | ebo | FBGN0266572 |
Protein
Protein identifiers
Exportin-6 — Q96QU8 (reviewed: Q96QU8)
Alternative names: Ran-binding protein 20
All UniProt accessions (10): Q96QU8, H3BMW9, H3BPG8, H3BR41, H3BRJ6, H3BRV5, H3BUP8, I3L0S8, I3L2D7, I3L2K0
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the nuclear export of actin and profilin-actin complexes in somatic cells.
Subunit / interactions. Found in a complex with XPO6, Ran, ACTB and PFN1. Interacts with ACTB. Interacts with ACTB in a RanGTP-dependent manner.
Subcellular location. Nucleus. Cytoplasm.
Similarity. Belongs to the exportin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96QU8-1 | 1 | yes |
| Q96QU8-2 | 2 |
RefSeq proteins (2): NP_001257869, NP_055986* (*=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 |
| IPR040016 | XPO6 | Family |
Pfam: PF03810, PF08389
UniProt features (14 total): modified residue 6, sequence conflict 3, initiator methionine 1, chain 1, sequence variant 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96QU8-F1 | 87.11 | 0.61 |
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 (6): 2, 199, 201, 204, 208, 224
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 196 (showing top):
AHRARNT_01, MORF_MTA1, GCM_GSPT1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, MORF_CDK2, MORF_HDAC2, GOMF_GTPASE_BINDING, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, NFKB_Q6, GOBP_NUCLEAR_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, NFKB_C, MORF_RAF1, GATA3_01, MORF_FANCG
GO Biological Process (4): protein export from nucleus (GO:0006611), intracellular protein transport (GO:0006886), nucleocytoplasmic transport (GO:0006913), protein transport (GO:0015031)
GO Molecular Function (3): nuclear export signal receptor activity (GO:0005049), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), protein-containing complex (GO:0032991)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nuclear export | 2 |
| intracellular protein localization | 2 |
| nuclear lumen | 2 |
| intracellular protein transport | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| nuclear transport | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| nucleocytoplasmic carrier activity | 1 |
| GTPase binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1958 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| XPO6 | PFN1 | P07737 | 990 |
| XPO6 | PFN4 | Q8NHR9 | 954 |
| XPO6 | PFN3 | P60673 | 952 |
| XPO6 | IPO9 | Q96P70 | 828 |
| XPO6 | XPO4 | Q9C0E2 | 820 |
| XPO6 | XPO7 | Q9UIA9 | 805 |
| XPO6 | ACTB | P02570 | 794 |
| XPO6 | CSE1L | P55060 | 770 |
| XPO6 | XPOT | O43592 | 668 |
| XPO6 | CFL2 | Q9Y281 | 667 |
| XPO6 | CFL1 | P23528 | 667 |
| XPO6 | XPO5 | Q9HAV4 | 650 |
| XPO6 | XPO1 | O14980 | 632 |
| XPO6 | TMTC3 | Q6ZXV5 | 614 |
| XPO6 | IPO4 | Q8TEX9 | 591 |
IntAct
105 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NUP62 | XPO6 | psi-mi:“MI:0915”(physical association) | 0.670 |
| XPO6 | NUP62 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SCN2B | EXOC5 | psi-mi:“MI:0914”(association) | 0.640 |
| ILVBL | COG7 | psi-mi:“MI:0914”(association) | 0.640 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| NPY2R | RTL8C | psi-mi:“MI:0914”(association) | 0.530 |
| NCR3LG1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| FCGRT | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| CD83 | BTAF1 | 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 |
| CA14 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | EIF2B5 | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| CD40 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC30A4 | OPA1 | psi-mi:“MI:0914”(association) | 0.530 |
| RASSF1 | MAP1B | psi-mi:“MI:0914”(association) | 0.530 |
| XPO6 | SLC27A2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ORF4 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| SIGLECL1 | KIAA1324L | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD3 | CLASP2 | psi-mi:“MI:0914”(association) | 0.350 |
| FPR2 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| VIPR1 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| PVR | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (125): NUP62 (Two-hybrid), XPO6 (Reconstituted Complex), XPO6 (Affinity Capture-MS), XPO6 (Affinity Capture-MS), XPO6 (Affinity Capture-MS), XPO6 (Affinity Capture-MS), XPO6 (Affinity Capture-MS), NUP62 (Two-hybrid), XPO6 (Affinity Capture-MS), XPO6 (Affinity Capture-MS), XPO6 (Co-fractionation), XPO6 (Co-fractionation), XPO6 (Co-fractionation), XPO6 (Co-fractionation), XPO6 (Co-fractionation)
ESM2 similar proteins: A4FUD6, A4QNE0, B5KFI0, F1Q8X5, O35841, P40763, P42224, P42227, P52631, P70398, Q19S50, Q3ZBE1, Q5R644, Q5R8I6, Q5R8N4, Q5RCC1, Q5RCR8, Q5XI83, Q6DFZ1, Q6DV79, Q6NRC7, Q6NRL4, Q6QI06, Q6R327, Q7SXV1, Q7Z3J2, Q8BHL5, Q8BIK4, Q8BPU7, Q8BWQ6, Q8CIB5, Q8CIQ7, Q8IWV8, Q8IWZ6, Q8IZD9, Q8K0F1, Q8K2G4, Q8R5L3, Q924Z6, Q92538
Diamond homologs: Q53I77, Q6NTZ5, Q8QHJ8, Q924Z6, Q96QU8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 123 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 |
|---|---|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 6 | 13.0× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
134 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 100 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5312 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:28101451:T:A | donor_gain | 1.0000 |
| 16:28101684:ATCTT:A | acceptor_gain | 1.0000 |
| 16:28101686:CTT:C | acceptor_gain | 1.0000 |
| 16:28101687:TT:T | acceptor_gain | 1.0000 |
| 16:28101689:C:CC | acceptor_gain | 1.0000 |
| 16:28101842:CTTA:C | donor_loss | 1.0000 |
| 16:28101843:TTA:T | donor_loss | 1.0000 |
| 16:28101844:TACC:T | donor_loss | 1.0000 |
| 16:28101845:A:AC | donor_gain | 1.0000 |
| 16:28101845:ACCT:A | donor_loss | 1.0000 |
| 16:28101846:C:CC | donor_gain | 1.0000 |
| 16:28101943:AGCC:A | acceptor_loss | 1.0000 |
| 16:28101944:GCCTA:G | acceptor_loss | 1.0000 |
| 16:28101945:CCT:C | acceptor_loss | 1.0000 |
| 16:28101946:C:CA | acceptor_loss | 1.0000 |
| 16:28101946:C:CC | acceptor_gain | 1.0000 |
| 16:28101947:T:G | acceptor_loss | 1.0000 |
| 16:28104541:GTTA:G | donor_loss | 1.0000 |
| 16:28104544:A:C | donor_loss | 1.0000 |
| 16:28104703:GGACG:G | acceptor_gain | 1.0000 |
| 16:28104704:GACG:G | acceptor_gain | 1.0000 |
| 16:28104705:ACG:A | acceptor_gain | 1.0000 |
| 16:28104706:CG:C | acceptor_gain | 1.0000 |
| 16:28104706:CGC:C | acceptor_gain | 1.0000 |
| 16:28104707:GCT:G | acceptor_loss | 1.0000 |
| 16:28104708:C:CC | acceptor_gain | 1.0000 |
| 16:28104708:C:G | acceptor_loss | 1.0000 |
| 16:28106038:CCTAC:C | donor_loss | 1.0000 |
| 16:28106040:TACC:T | donor_loss | 1.0000 |
| 16:28106042:C:CT | donor_loss | 1.0000 |
AlphaMissense
7416 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:28125789:C:G | D556H | 1.000 |
| 16:28125794:A:G | L554P | 1.000 |
| 16:28125804:G:C | H551D | 1.000 |
| 16:28133898:G:C | S493R | 1.000 |
| 16:28133898:G:T | S493R | 1.000 |
| 16:28133900:T:G | S493R | 1.000 |
| 16:28146167:A:G | W421R | 1.000 |
| 16:28146167:A:T | W421R | 1.000 |
| 16:28152669:G:T | T405K | 1.000 |
| 16:28152735:A:G | L383P | 1.000 |
| 16:28152739:G:C | H382D | 1.000 |
| 16:28152759:A:G | L375P | 1.000 |
| 16:28156140:A:G | L344P | 1.000 |
| 16:28156215:A:G | L319P | 1.000 |
| 16:28156236:G:T | A312D | 1.000 |
| 16:28156396:A:G | W259R | 1.000 |
| 16:28156396:A:T | W259R | 1.000 |
| 16:28156404:A:G | L256P | 1.000 |
| 16:28169875:A:G | L147P | 1.000 |
| 16:28169878:C:T | G146E | 1.000 |
| 16:28169879:C:A | G146W | 1.000 |
| 16:28169879:C:G | G146R | 1.000 |
| 16:28169879:C:T | G146R | 1.000 |
| 16:28175937:C:A | W122C | 1.000 |
| 16:28175937:C:G | W122C | 1.000 |
| 16:28175939:A:G | W122R | 1.000 |
| 16:28175939:A:T | W122R | 1.000 |
| 16:28175947:C:G | R119P | 1.000 |
| 16:28175950:C:T | G118E | 1.000 |
| 16:28175951:C:G | G118R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000020262 (16:28136887 A>G), RS1000045684 (16:28103280 AATGCATGTGAAACTC>A), RS1000054161 (16:28181253 T>C), RS1000057066 (16:28151423 C>T), RS1000124293 (16:28161293 G>A), RS1000145464 (16:28194423 A>T), RS1000145486 (16:28102047 T>C), RS1000177320 (16:28161598 A>G), RS1000182554 (16:28179690 C>T), RS1000216367 (16:28110821 G>C), RS1000261071 (16:28154207 C>T), RS1000264138 (16:28111277 C>G), RS1000273128 (16:28130703 A>T), RS1000278588 (16:28211716 C>G), RS1000327052 (16:28141918 C>T)
Disease associations
OMIM: gene MIM:608411 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_111 | Refractive error | 3.000000e-09 |
| GCST010241_84 | Apolipoprotein A1 levels | 3.000000e-13 |
| GCST011742_22 | Triglyceride levels in HIV infection | 6.000000e-07 |
| GCST011742_8 | Triglyceride levels in HIV infection | 6.000000e-07 |
| GCST90002393_267 | Monocyte count | 2.000000e-13 |
| GCST90011900_123 | Serum alkaline phosphatase levels | 1.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0005091 | monocyte count |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066255 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.18 | Kd | 654.3 | nM | CHEMBL5653589 |
| 6.18 | ED50 | 654.3 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 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 | 2149788: Binding affinity to human XPO6 incubated for 45 mins by Kinobead based pull down assay | kd | 0.6543 | uM |
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 2 |
| Air Pollutants | affects expression, affects cotreatment, increases abundance, increases oxidation | 2 |
| Estradiol | increases expression | 2 |
| Ozone | increases oxidation, increases abundance, affects expression, affects cotreatment | 2 |
| Cyclosporine | increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| beta-lapachone | increases expression | 1 |
| methylparaben | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Folic Acid | decreases 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 |
|---|---|---|---|
| CHEMBL5652830 | Binding | Binding affinity to human XPO6 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)
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.