RANBP17
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Summary
RANBP17 (RAN binding protein 17, HGNC:14428) is a protein-coding gene on chromosome 5q35.1, encoding Ran-binding protein 17 (Q9H2T7). May function as a nuclear transport receptor.
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-17 is a member of the importin-beta superfamily of nuclear transport receptors.
Source: NCBI Gene 64901 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 223 total
- MANE Select transcript:
NM_022897
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14428 |
| Approved symbol | RANBP17 |
| Name | RAN binding protein 17 |
| Location | 5q35.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000204764 |
| Ensembl biotype | protein_coding |
| OMIM | 606141 |
| Entrez | 64901 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 8 protein_coding_CDS_not_defined, 7 nonsense_mediated_decay, 5 protein_coding, 4 retained_intron
ENST00000389118, ENST00000443155, ENST00000517629, ENST00000518492, ENST00000519130, ENST00000519256, ENST00000519944, ENST00000519949, ENST00000520586, ENST00000520864, ENST00000520879, ENST00000521165, ENST00000521759, ENST00000521834, ENST00000522066, ENST00000522380, ENST00000522533, ENST00000522734, ENST00000523189, ENST00000523665, ENST00000523727, ENST00000524364, ENST00000961945, ENST00000961946
RefSeq mRNA: 1 — MANE Select: NM_022897
NM_022897
CCDS: CCDS34287
Canonical transcript exons
ENST00000523189 — 28 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001473667 | 170953597 | 170953702 |
| ENSE00001473671 | 170916465 | 170916584 |
| ENSE00001473672 | 170914167 | 170914240 |
| ENSE00001473674 | 170910969 | 170911134 |
| ENSE00002690636 | 170862018 | 170862051 |
| ENSE00003465000 | 171221758 | 171221840 |
| ENSE00003515094 | 171183322 | 171183430 |
| ENSE00003524506 | 170881806 | 170881896 |
| ENSE00003537276 | 170918713 | 170918859 |
| ENSE00003539375 | 171295887 | 171296014 |
| ENSE00003555773 | 171293883 | 171293981 |
| ENSE00003564267 | 170892387 | 170892553 |
| ENSE00003584457 | 171298762 | 171300015 |
| ENSE00003592947 | 170919441 | 170919613 |
| ENSE00003601758 | 170968242 | 170968377 |
| ENSE00003612618 | 171171206 | 171171286 |
| ENSE00003630608 | 171205524 | 171205612 |
| ENSE00003631913 | 170909661 | 170909765 |
| ENSE00003637617 | 171170130 | 171170203 |
| ENSE00003638179 | 171242682 | 171242820 |
| ENSE00003641619 | 171183167 | 171183230 |
| ENSE00003641733 | 171199670 | 171199773 |
| ENSE00003646920 | 170878097 | 170878243 |
| ENSE00003648152 | 171240928 | 171241142 |
| ENSE00003659704 | 170924357 | 170924550 |
| ENSE00003675311 | 170896050 | 170896115 |
| ENSE00003679237 | 171213631 | 171213738 |
| ENSE00003681284 | 171265681 | 171265847 |
Expression profiles
Bgee: expression breadth ubiquitous, 197 present calls, max score 94.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.2120 / max 104.1038, expressed in 1240 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60166 | 3.1079 | 1016 |
| 60165 | 2.1041 | 949 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 94.97 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.20 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.11 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.22 | gold quality |
| right testis | UBERON:0004534 | 87.51 | gold quality |
| left testis | UBERON:0004533 | 87.43 | gold quality |
| testis | UBERON:0000473 | 86.16 | gold quality |
| sperm | CL:0000019 | 83.69 | gold quality |
| right uterine tube | UBERON:0001302 | 83.62 | gold quality |
| ventricular zone | UBERON:0003053 | 83.10 | gold quality |
| sural nerve | UBERON:0015488 | 81.84 | gold quality |
| male germ cell | CL:0000015 | 81.37 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 81.25 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 81.15 | gold quality |
| minor salivary gland | UBERON:0001830 | 81.14 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 80.85 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.81 | gold quality |
| thyroid gland | UBERON:0002046 | 80.61 | gold quality |
| body of pancreas | UBERON:0001150 | 80.33 | gold quality |
| cortical plate | UBERON:0005343 | 80.21 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 80.19 | gold quality |
| endometrium | UBERON:0001295 | 80.02 | gold quality |
| left adrenal gland | UBERON:0001234 | 79.99 | gold quality |
| adrenal gland | UBERON:0002369 | 79.81 | gold quality |
| pancreatic ductal cell | CL:0002079 | 79.51 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.49 | gold quality |
| tendon | UBERON:0000043 | 79.23 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 79.09 | gold quality |
| corpus callosum | UBERON:0002336 | 78.93 | gold quality |
| adrenal cortex | UBERON:0001235 | 78.72 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.80 |
| E-GEOD-124858 | no | 275.73 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYOD1
miRNA regulators (miRDB)
67 targeting RANBP17, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-6516-3P | 99.65 | 68.57 | 1238 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-6757-3P | 99.63 | 66.88 | 1089 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-372-5P | 99.41 | 69.11 | 2299 |
Literature-anchored findings (GeneRIF, showing 3)
- 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)
- The importin beta superfamily member RanBP17 exhibits a role in cell proliferation and is associated with improved survival of patients with HPV+ HNSCC. (PMID:35850701)
- RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons. (PMID:38438257)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ranbp17 | ENSMUSG00000040594 |
| rattus_norvegicus | Ranbp17 | ENSRNOG00000005042 |
| drosophila_melanogaster | Ranbp16 | FBGN0053180 |
| caenorhabditis_elegans | WBGENE00007952 |
Paralogs (2): XPO7 (ENSG00000130227), XPO4 (ENSG00000132953)
Protein
Protein identifiers
Ran-binding protein 17 — Q9H2T7 (reviewed: Q9H2T7)
All UniProt accessions (7): E5RHX1, Q9H2T7, H0YAS2, H0YBM6, H0YBY7, Q546R4, Q8IVM9
UniProt curated annotations — full annotation on UniProt →
Function. May function as a nuclear transport receptor.
Subunit / interactions. Binds to nucleoporins and the GTP-bound form of Ran.
Subcellular location. Cytoplasm. Nucleus. Nuclear pore complex.
Tissue specificity. Highly expressed in testis, moderately in pancreas and weakly in other tissues studied.
Similarity. Belongs to the exportin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H2T7-1 | 1 | yes |
| Q9H2T7-2 | 2 |
RefSeq proteins (1): NP_075048* (*=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, splice variant 2, sequence conflict 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H2T7-F1 | 85.42 | 0.44 |
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, 569
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 108 (showing top):
GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, GOBP_NUCLEAR_TRANSPORT, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_EXPORT, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MODULE_207, GOBP_RNA_LOCALIZATION, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, GOCC_NUCLEAR_ENVELOPE, GOCC_NUCLEAR_PORE, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN
GO Biological Process (8): protein import into nucleus (GO:0006606), protein export from nucleus (GO:0006611), mRNA transport (GO:0051028), 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), GTP binding (GO:0005525), small GTPase binding (GO:0031267)
GO Cellular Component (3): nuclear pore (GO:0005643), cytoplasm (GO:0005737), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein transport | 2 |
| nuclear export | 2 |
| intracellular protein localization | 2 |
| intracellular transport | 2 |
| protein localization to nucleus | 1 |
| import into nucleus | 1 |
| establishment of protein localization to organelle | 1 |
| RNA 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 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| GTPase binding | 1 |
| nuclear envelope | 1 |
| nuclear protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RANBP17 | TLX3 | O43711 | 797 |
| RANBP17 | TLX2 | O43763 | 759 |
| RANBP17 | BCL11B | Q9C0K0 | 754 |
| RANBP17 | LYL1 | P12980 | 648 |
| RANBP17 | XPO1 | O14980 | 637 |
| RANBP17 | RANBP6 | O60518 | 622 |
| RANBP17 | LMO1 | P25800 | 615 |
| RANBP17 | TLX1 | P31314 | 611 |
| RANBP17 | XPOT | O43592 | 578 |
| RANBP17 | CSE1L | P55060 | 550 |
| RANBP17 | TNPO2 | O14787 | 545 |
| RANBP17 | IPO4 | Q8TEX9 | 528 |
| RANBP17 | IPO5 | O00410 | 506 |
| RANBP17 | TNPO1 | Q92973 | 506 |
| RANBP17 | IPO11 | Q9UI26 | 506 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GYPB | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| RANBP17 | TCERG1 | psi-mi:“MI:0914”(association) | 0.350 |
| NPTN | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| RANBP17 | HMGA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (22): RANBP17 (Affinity Capture-RNA), RANBP17 (Affinity Capture-RNA), RANBP17 (Affinity Capture-MS), RANBP17 (Affinity Capture-RNA), RANBP17 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), MUL1 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), CHRAC1 (Affinity Capture-MS), HMGA2 (Affinity Capture-MS), RANBP17 (Affinity Capture-MS), TCERG1 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO7 (Negative Genetic)
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RANBP17 | up-regulates | TCF3 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
223 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 159 |
| Likely benign | 16 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6325 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:170862048:CCAG:C | donor_loss | 1.0000 |
| 5:170862049:CAGGT:C | donor_loss | 1.0000 |
| 5:170862050:AGGTC:A | donor_loss | 1.0000 |
| 5:170862051:GGTC:G | donor_loss | 1.0000 |
| 5:170862052:GTCA:G | donor_loss | 1.0000 |
| 5:170878244:G:GG | donor_gain | 1.0000 |
| 5:170881804:A:AG | acceptor_gain | 1.0000 |
| 5:170881805:G:GG | acceptor_gain | 1.0000 |
| 5:170881805:GAC:G | acceptor_gain | 1.0000 |
| 5:170881894:TCA:T | donor_gain | 1.0000 |
| 5:170881897:G:GG | donor_gain | 1.0000 |
| 5:170892549:TCCAG:T | donor_loss | 1.0000 |
| 5:170892550:CCAG:C | donor_loss | 1.0000 |
| 5:170892551:CAGG:C | donor_loss | 1.0000 |
| 5:170892552:AGG:A | donor_loss | 1.0000 |
| 5:170892553:GG:G | donor_loss | 1.0000 |
| 5:170892554:GTAA:G | donor_loss | 1.0000 |
| 5:170892555:T:G | donor_loss | 1.0000 |
| 5:170896141:GAGCC:G | donor_gain | 1.0000 |
| 5:170896155:T:G | donor_gain | 1.0000 |
| 5:170909656:TTTA:T | acceptor_loss | 1.0000 |
| 5:170909659:A:AG | acceptor_gain | 1.0000 |
| 5:170909659:AG:A | acceptor_gain | 1.0000 |
| 5:170909659:AGGTT:A | acceptor_gain | 1.0000 |
| 5:170909660:G:GG | acceptor_gain | 1.0000 |
| 5:170909660:GG:G | acceptor_gain | 1.0000 |
| 5:170909660:GGTT:G | acceptor_gain | 1.0000 |
| 5:170909660:GGTTG:G | acceptor_gain | 1.0000 |
| 5:170909762:AGAG:A | donor_gain | 1.0000 |
| 5:170909762:AGAGG:A | donor_loss | 1.0000 |
AlphaMissense
7165 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:170911125:T:A | W251R | 1.000 |
| 5:170911125:T:C | W251R | 1.000 |
| 5:170919486:T:A | W383R | 1.000 |
| 5:170919486:T:C | W383R | 1.000 |
| 5:171205557:G:A | G726R | 1.000 |
| 5:171205557:G:C | G726R | 1.000 |
| 5:170892485:T:A | W119R | 0.999 |
| 5:170892485:T:C | W119R | 0.999 |
| 5:170916499:G:C | R290T | 0.999 |
| 5:170916499:G:T | R290I | 0.999 |
| 5:170918746:T:C | C330R | 0.999 |
| 5:170918747:G:A | C330Y | 0.999 |
| 5:170918748:T:G | C330W | 0.999 |
| 5:170918750:G:C | R331P | 0.999 |
| 5:170918843:C:T | T362I | 0.999 |
| 5:170918851:A:C | S365R | 0.999 |
| 5:170918853:C:A | S365R | 0.999 |
| 5:170918853:C:G | S365R | 0.999 |
| 5:170918855:T:C | L366P | 0.999 |
| 5:170919462:A:C | S375R | 0.999 |
| 5:170919464:T:A | S375R | 0.999 |
| 5:170919464:T:G | S375R | 0.999 |
| 5:170919488:G:C | W383C | 0.999 |
| 5:170919488:G:T | W383C | 0.999 |
| 5:170953683:G:C | D519H | 0.999 |
| 5:171205552:T:C | L724P | 0.999 |
| 5:171205557:G:T | G726W | 0.999 |
| 5:171205558:G:A | G726E | 0.999 |
| 5:171221765:C:A | R783S | 0.999 |
| 5:171296009:A:C | R1055S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000002188 (5:171020376 C>A), RS1000005393 (5:171236181 C>T), RS1000006793 (5:171160989 A>G), RS1000011330 (5:171292243 C>A), RS1000012964 (5:171111018 C>A,G,T), RS1000014554 (5:171053610 A>G), RS1000019760 (5:170942203 C>T), RS1000023412 (5:170983982 A>C,G), RS1000026440 (5:171290053 A>G), RS1000033879 (5:170909577 C>A,T), RS1000036215 (5:171282381 C>T), RS1000036698 (5:171236472 T>C), RS1000042025 (5:170942261 C>A), RS1000043972 (5:171022941 G>A), RS1000049534 (5:171030618 A>C,G)
Disease associations
OMIM: gene MIM:606141 | disease phenotypes: MIM:236600
GenCC curated gene-disease
Mondo (2): autism spectrum disorder (MONDO:0005258), congenital hydrocephalus (MONDO:0016349)
Orphanet (2): Congenital hydrocephalus (Orphanet:2185), NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001525_3 | Visceral fat | 5.000000e-06 |
| GCST005830_104 | Hand grip strength | 1.000000e-11 |
| GCST006611_80 | HDL cholesterol | 2.000000e-14 |
| GCST007327_4 | Smoking status (ever vs never smokers) | 3.000000e-10 |
| GCST010242_214 | HDL cholesterol levels | 7.000000e-09 |
| GCST010988_348 | Adult body size | 5.000000e-17 |
| GCST011995_2 | Restless legs syndrome | 7.000000e-10 |
| GCST012490_379 | Femur bone mineral density x serum urate levels interaction | 4.000000e-08 |
| GCST90000047_113 | Age at first sexual intercourse | 2.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006941 | grip strength measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004318 | smoking behavior |
| EFO:0004531 | urate measurement |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Daunorubicin | affects response to substance | 1 |
| Methapyrilene | increases methylation | 1 |
| Testosterone | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital hydrocephalus, restless legs syndrome