IPO13
gene geneOn this page
Also known as IMP13KIAA0724RANBP13
Summary
IPO13 (importin 13, HGNC:16853) is a protein-coding gene on chromosome 1p34.1, encoding Importin-13 (O94829). Functions in nuclear protein import as nuclear transport receptor. It is a common-essential gene (DepMap: required in 95.6% of cancer cell lines).
This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.
Source: NCBI Gene 9670 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 119 total
- Cancer dependency (DepMap): dependent in 95.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_014652
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16853 |
| Approved symbol | IPO13 |
| Name | importin 13 |
| Location | 1p34.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IMP13, KIAA0724, RANBP13 |
| Ensembl gene | ENSG00000117408 |
| Ensembl biotype | protein_coding |
| OMIM | 610411 |
| Entrez | 9670 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 20 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000372339, ENST00000372343, ENST00000480902, ENST00000486876, ENST00000489061, ENST00000489773, ENST00000492152, ENST00000862660, ENST00000862661, ENST00000862662, ENST00000862663, ENST00000862664, ENST00000862665, ENST00000862666, ENST00000862667, ENST00000862668, ENST00000862669, ENST00000862670, ENST00000862671, ENST00000862672, ENST00000924210, ENST00000924211, ENST00000924212, ENST00000950460, ENST00000950461
RefSeq mRNA: 1 — MANE Select: NM_014652
NM_014652
CCDS: CCDS503
Canonical transcript exons
ENST00000372343 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000770139 | 43949417 | 43950153 |
| ENSE00000770414 | 43957977 | 43958158 |
| ENSE00000770494 | 43958242 | 43958268 |
| ENSE00000770562 | 43958461 | 43958595 |
| ENSE00000770563 | 43958746 | 43958889 |
| ENSE00000770564 | 43960249 | 43960329 |
| ENSE00000770576 | 43961166 | 43961262 |
| ENSE00000770577 | 43964269 | 43964321 |
| ENSE00000770580 | 43966575 | 43966641 |
| ENSE00000770582 | 43966724 | 43966782 |
| ENSE00000770593 | 43966930 | 43967019 |
| ENSE00000770596 | 43967315 | 43967496 |
| ENSE00001457579 | 43967586 | 43968022 |
| ENSE00001457588 | 43946950 | 43947684 |
| ENSE00003238145 | 43960876 | 43961013 |
| ENSE00003476490 | 43957195 | 43957315 |
| ENSE00003566272 | 43957402 | 43957549 |
| ENSE00003618776 | 43956810 | 43956976 |
| ENSE00003634948 | 43956320 | 43956460 |
| ENSE00003669918 | 43956560 | 43956701 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 97.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0202 / max 450.2358, expressed in 1817 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2568 | 23.7496 | 1817 |
| 2567 | 1.1862 | 502 |
| 2569 | 0.0844 | 30 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.62 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.11 | gold quality |
| apex of heart | UBERON:0002098 | 97.07 | gold quality |
| spinal cord | UBERON:0002240 | 96.93 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.87 | gold quality |
| muscle of leg | UBERON:0001383 | 96.05 | gold quality |
| putamen | UBERON:0001874 | 95.86 | gold quality |
| corpus callosum | UBERON:0002336 | 95.81 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.75 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.75 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.61 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.57 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.37 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.28 | gold quality |
| olfactory bulb | UBERON:0002264 | 95.24 | silver quality |
| muscle organ | UBERON:0001630 | 95.19 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.17 | gold quality |
| amygdala | UBERON:0001876 | 95.08 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.01 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.83 | gold quality |
| gluteal muscle | UBERON:0002000 | 94.78 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.51 | gold quality |
| left testis | UBERON:0004533 | 94.47 | gold quality |
| substantia nigra | UBERON:0002038 | 94.41 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.36 | gold quality |
| right testis | UBERON:0004534 | 94.35 | gold quality |
| midbrain | UBERON:0001891 | 94.32 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 94.21 | gold quality |
| cerebellum | UBERON:0002037 | 94.00 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.60 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CRX, CTCF, PAX3, PAX6
miRNA regulators (miRDB)
26 targeting IPO13, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-6513-5P | 99.43 | 67.81 | 1071 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-299-5P | 98.56 | 71.14 | 1140 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
| HSA-MIR-6815-5P | 96.05 | 65.55 | 662 |
| HSA-MIR-6865-5P | 96.05 | 65.58 | 675 |
| HSA-MIR-6726-5P | 95.97 | 63.72 | 841 |
| HSA-MIR-920 | 95.97 | 63.95 | 811 |
| HSA-MIR-4300 | 95.85 | 64.56 | 1003 |
| HSA-MIR-5591-5P | 95.85 | 64.76 | 1002 |
| HSA-MIR-6802-5P | 94.94 | 65.95 | 366 |
| HSA-MIR-135A-3P | 94.19 | 66.09 | 495 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 95.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 16)
- Imp13 functions in myopodin import and the regulation of this event is critical for normal and abnormal cellular differentiation. (PMID:17828378)
- Importin 13 mediates nuclear import of histone fold-containing chromatin accessibility complex heterodimers (PMID:19218565)
- IPO13 is uniquely expressed by human limbal basal epithelial cells, and plays an important role in maintaining the phenotype, high proliferative potential, and less differentiation of corneal epithelial progenitor cells. (PMID:19593795)
- IPO13 variation may improve nuclear bioavailability of endogenous glucocorticoids (PMID:19619331)
- Data show that expression of IPO13, c-kit, telomerase, caspase3, and CD146 are decreased in endometrial polyps; however, the expression of bcl-2 was increased in polyps compared to the normal endometrial tissue. (PMID:21804459)
- These results demonstrate an increased expression of IPO13 in endometriosis and endometrial carcinoma. (PMID:22648251)
- Imp13 is able to bind and export eIF1A in vivo and that its function is essential. (PMID:23435562)
- IPO13 may contribute to the pathogenesis of pterygium via modulation of K17 and c-Jun. (PMID:23559854)
- IPO13 influenced intracellular distribution of CTCF. (PMID:23620300)
- The anti- glucocorticoid receptor effect of respiratory syncytial virus was mediated by viral nonstructural protein 1, which likely functioned by competing with IPO13 for glucocorticoid receptor binding. (PMID:28968829)
- this study significantly expands the repertoire of importin 13 cargoes and sets the basis for a more detailed characterization of this extremely versatile transport receptor. (PMID:29666159)
- This study reports the identification of mutation (c.331C>T, p.R111C) in the IPO13 gene in a consanguineous family with ocular coloboma, microphthalmia, and cataract by a combination of whole-exome sequencing and homozygosity mapping. (PMID:29700284)
- This is the first report that IPO13 can be phosphorylated at Ser193 and that this modification regulates IPO13 subcellular localization and nucleocytoplasmic transport function, with important implications for IPO13’s role in development and other processes. (PMID:30045875)
- Importin 13 promotes NSCLC progression by mediating RFPL3 nuclear translocation and hTERT expression upregulation. (PMID:33082305)
- Nuclear transporter Importin-13 plays a key role in the oxidative stress transcriptional response. (PMID:34625540)
- The Nuclear Transporter Importin 13 Can Regulate Stress-Induced Cell Death through the Clusterin/KU70 Axis. (PMID:36672214)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ipo13b | ENSDARG00000060618 |
| mus_musculus | Ipo13 | ENSMUSG00000033365 |
| rattus_norvegicus | Ipo13 | ENSRNOG00000019758 |
| drosophila_melanogaster | cdm | FBGN0261532 |
| caenorhabditis_elegans | WBGENE00011807 |
Paralogs (1): TNPO3 (ENSG00000064419)
Protein
Protein identifiers
Importin-13 — O94829 (reviewed: O94829)
Alternative names: Karyopherin-13, Ran-binding protein 13
All UniProt accessions (2): O94829, Q5T4X2
UniProt curated annotations — full annotation on UniProt →
Function. Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates the nuclear import of UBC9, the RBM8A/MAGOH complex, PAX6 and probably other members of the paired homeobox family. Also mediates nuclear export of eIF-1A, and the cytoplasmic release of eIF-1A is triggered by the loading of import substrates onto IPO13.
Subunit / interactions. Interacts with UBC9, RAN, RBM8A, eIF-1A and PAX6.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in fetal brain, heart, intestine and kidney.
Similarity. Belongs to the importin beta family.
RefSeq proteins (1): NP_055467* (*=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 |
| IPR040520 | Importin_rep_3 | Repeat |
| IPR040709 | Importin_rep_1 | Repeat |
| IPR040944 | Importin_rep_2 | Repeat |
| IPR051345 | Importin_beta-like_NTR | Family |
| IPR057941 | TPR_TNPO3_IPO13_2nd | Repeat |
| IPR057942 | TPR_TNPO3_IPO13_3rd | Repeat |
| IPR058537 | TPR_TNPO3_IPO13_4th | Repeat |
Pfam: PF03810, PF08389, PF18773, PF18786, PF18806, PF24138, PF24139, PF24140
UniProt features (98 total): helix 60, repeat 20, turn 12, sequence conflict 3, chain 1, domain 1, strand 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2X19 | X-RAY DIFFRACTION | 2.8 |
| 2XWU | X-RAY DIFFRACTION | 2.8 |
| 3ZJY | X-RAY DIFFRACTION | 3.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O94829-F1 | 90.60 | 0.80 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 109 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, RNGTGGGC_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GCANCTGNY_MYOD_Q6, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, USF_C, GOBP_NUCLEAR_TRANSPORT, BROWNE_HCMV_INFECTION_24HR_UP, MYCMAX_01, chr1p34, ZIC1_01, NRF2_Q4, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE
GO Biological Process (3): protein import into nucleus (GO:0006606), intracellular protein transport (GO:0006886), protein transport (GO:0015031)
GO Molecular Function (2): small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 2 |
| intracellular protein transport | 1 |
| protein localization to nucleus | 1 |
| import into nucleus | 1 |
| establishment of protein localization to organelle | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| GTPase binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
916 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IPO13 | BAIAP3 | O94812 | 813 |
| IPO13 | XPOT | O43592 | 783 |
| IPO13 | XPO4 | Q9C0E2 | 775 |
| IPO13 | IPO11 | Q9UI26 | 775 |
| IPO13 | IPO9 | Q96P70 | 759 |
| IPO13 | IPO7 | O95373 | 735 |
| IPO13 | IPO4 | Q8TEX9 | 734 |
| IPO13 | ARX | Q96QS3 | 730 |
| IPO13 | IPO5 | O00410 | 722 |
| IPO13 | UBE2I | P50550 | 714 |
| IPO13 | IPO8 | O15397 | 707 |
| IPO13 | TNPO2 | O14787 | 692 |
| IPO13 | SHOX2 | O60902 | 689 |
| IPO13 | XPO7 | Q9UIA9 | 674 |
| IPO13 | TNPO1 | Q92973 | 673 |
IntAct
150 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PBX4 | IPO13 | psi-mi:“MI:0915”(physical association) | 0.830 |
| IPO13 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.830 |
| IPO13 | EIF1AX | psi-mi:“MI:0915”(physical association) | 0.750 |
| EIF1AX | IPO13 | psi-mi:“MI:0915”(physical association) | 0.750 |
| IPO13 | EIF1AX | psi-mi:“MI:0407”(direct interaction) | 0.750 |
| IPO13 | RAN | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| RAN | IPO13 | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| IPO13 | RAN | psi-mi:“MI:0915”(physical association) | 0.730 |
| IPO13 | UBE2I | psi-mi:“MI:0407”(direct interaction) | 0.720 |
| UBE2I | IPO13 | psi-mi:“MI:0407”(direct interaction) | 0.720 |
| IPO13 | UBE2I | psi-mi:“MI:0915”(physical association) | 0.720 |
| PITX1 | IPO13 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (135): PBX4 (Two-hybrid), IPO13 (Affinity Capture-RNA), IPO13 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), IPO13 (Two-hybrid), IPO13 (Two-hybrid), IPO13 (Affinity Capture-Western), IPO13 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), IPO13 (Affinity Capture-MS), IPO13 (Affinity Capture-MS)
ESM2 similar proteins: A0A3L7I2I8, A0JMZ3, A5HK05, A7MB89, A7YWD2, O60733, O75031, O94829, O94955, P0C7A6, P42694, P49754, P97570, P97819, Q05AL1, Q1LVW0, Q29RM5, Q2KI54, Q2T9K6, Q3UFS0, Q3UJZ3, Q4V890, Q5KU39, Q5R6S3, Q5R974, Q5T9G4, Q5TYQ1, Q5VZK9, Q68FK4, Q6DFV5, Q6EDY6, Q6NYU2, Q6QI06, Q6R327, Q7T3P8, Q8C0T1, Q8CEF1, Q8IUR7, Q8NFZ0, Q91W86
Diamond homologs: A7YWD2, O94829, Q5R974, Q5ZIC8, Q8K0C1, Q9JM04
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 126 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | 7 | 8.2× | 5e-03 |
| G alpha (q) signalling events | 9 | 7.0× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| phospholipase C-activating G protein-coupled receptor signaling pathway | 7 | 8.9× | 6e-03 |
| positive regulation of cytosolic calcium ion concentration | 7 | 7.9× | 6e-03 |
| positive regulation of ERK1 and ERK2 cascade | 8 | 6.5× | 6e-03 |
| G protein-coupled receptor signaling pathway | 14 | 4.9× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
119 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 94 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3473 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:43956317:TAG:T | acceptor_loss | 1.0000 |
| 1:43956318:AG:A | acceptor_gain | 1.0000 |
| 1:43956319:G:GA | acceptor_loss | 1.0000 |
| 1:43956319:GG:G | acceptor_gain | 1.0000 |
| 1:43956319:GGT:G | acceptor_gain | 1.0000 |
| 1:43956319:GGTAC:G | acceptor_gain | 1.0000 |
| 1:43956446:C:T | donor_gain | 1.0000 |
| 1:43956457:CCCG:C | donor_loss | 1.0000 |
| 1:43956459:CGGT:C | donor_loss | 1.0000 |
| 1:43956460:GGTA:G | donor_loss | 1.0000 |
| 1:43956461:G:T | donor_loss | 1.0000 |
| 1:43956462:T:C | donor_loss | 1.0000 |
| 1:43956469:TG:T | donor_gain | 1.0000 |
| 1:43956470:GG:G | donor_gain | 1.0000 |
| 1:43957193:A:AG | acceptor_gain | 1.0000 |
| 1:43957193:AG:A | acceptor_gain | 1.0000 |
| 1:43957194:G:GG | acceptor_gain | 1.0000 |
| 1:43957194:GG:G | acceptor_gain | 1.0000 |
| 1:43957976:GGA:G | acceptor_gain | 1.0000 |
| 1:43958108:TGC:T | donor_gain | 1.0000 |
| 1:43958157:AGG:A | donor_loss | 1.0000 |
| 1:43958158:GG:G | donor_loss | 1.0000 |
| 1:43958159:GT:G | donor_loss | 1.0000 |
| 1:43958458:CA:C | acceptor_loss | 1.0000 |
| 1:43958459:A:AG | acceptor_gain | 1.0000 |
| 1:43958459:A:C | acceptor_loss | 1.0000 |
| 1:43958460:G:GT | acceptor_gain | 1.0000 |
| 1:43958460:GA:G | acceptor_gain | 1.0000 |
| 1:43958460:GAC:G | acceptor_gain | 1.0000 |
| 1:43958460:GACA:G | acceptor_gain | 1.0000 |
AlphaMissense
6291 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:43949430:T:C | L33P | 1.000 |
| 1:43949478:T:A | L49Q | 1.000 |
| 1:43949478:T:C | L49P | 1.000 |
| 1:43949507:T:A | W59R | 1.000 |
| 1:43949507:T:C | W59R | 1.000 |
| 1:43949509:G:C | W59C | 1.000 |
| 1:43949509:G:T | W59C | 1.000 |
| 1:43949561:T:C | F77L | 1.000 |
| 1:43949563:T:A | F77L | 1.000 |
| 1:43949563:T:G | F77L | 1.000 |
| 1:43949564:G:A | G78R | 1.000 |
| 1:43949564:G:C | G78R | 1.000 |
| 1:43949564:G:T | G78W | 1.000 |
| 1:43949565:G:A | G78E | 1.000 |
| 1:43949568:C:A | A79D | 1.000 |
| 1:43949577:T:C | L82P | 1.000 |
| 1:43949585:A:G | K85E | 1.000 |
| 1:43949587:G:C | K85N | 1.000 |
| 1:43949587:G:T | K85N | 1.000 |
| 1:43949646:T:C | L105P | 1.000 |
| 1:43949700:T:C | L123P | 1.000 |
| 1:43950017:T:A | W229R | 1.000 |
| 1:43950017:T:C | W229R | 1.000 |
| 1:43956427:G:C | R310P | 1.000 |
| 1:43956666:A:C | S357R | 1.000 |
| 1:43956668:C:A | S357R | 1.000 |
| 1:43956668:C:G | S357R | 1.000 |
| 1:43956687:T:A | W364R | 1.000 |
| 1:43956687:T:C | W364R | 1.000 |
| 1:43956697:T:C | L367P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000323710 (1:43965150 G>T), RS1000807373 (1:43965185 T>G), RS1000859824 (1:43965517 C>A,T), RS1001196506 (1:43950393 A>G,T), RS1001350474 (1:43948696 G>T), RS1001426243 (1:43965663 C>G), RS1001540623 (1:43965300 A>G,T), RS1001800276 (1:43949101 G>A,C), RS1001870957 (1:43963606 C>G), RS1002554937 (1:43966992 T>A), RS1002662166 (1:43966054 G>A), RS1002758938 (1:43950443 T>A,G), RS1003142757 (1:43959775 T>C), RS1003383622 (1:43952668 GAT>G), RS1003541325 (1:43952337 T>C)
Disease associations
OMIM: gene MIM:610411 | 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 |
|---|---|---|
| GCST004521_235 | Autism spectrum disorder or schizophrenia | 4.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression, affects cotreatment, affects expression, increases abundance | 3 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Oils, Volatile | increases abundance, affects cotreatment, affects expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Zearalenone | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
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.