RABL6
gene geneOn this page
Also known as FLJ10101FLJ13045pp8875bA216L13.9ParfRBEL1
Summary
RABL6 (RAB, member RAS oncogene family like 6, HGNC:24703) is a protein-coding gene on chromosome 9q34.3, encoding Rab-like protein 6 (Q3YEC7). Small GTPase involved in the regulation of cell growth and survival.
This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 55684 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 216 total
- Druggable target: yes
- MANE Select transcript:
NM_024718
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24703 |
| Approved symbol | RABL6 |
| Name | RAB, member RAS oncogene family like 6 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1 |
| Ensembl gene | ENSG00000196642 |
| Ensembl biotype | protein_coding |
| OMIM | 610615 |
| Entrez | 55684 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 9 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000311502, ENST00000357466, ENST00000371663, ENST00000371671, ENST00000435930, ENST00000436380, ENST00000461992, ENST00000464941, ENST00000466096, ENST00000484471, ENST00000629216, ENST00000913422, ENST00000913423, ENST00000913424
RefSeq mRNA: 3 — MANE Select: NM_024718
NM_001173988, NM_001173989, NM_024718
CCDS: CCDS48058, CCDS55352, CCDS55353
Canonical transcript exons
ENST00000311502 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003510389 | 136840322 | 136841187 |
| ENSE00003657895 | 136832265 | 136832370 |
| ENSE00003792013 | 136835742 | 136835845 |
| ENSE00003792464 | 136829393 | 136829484 |
| ENSE00003792609 | 136839694 | 136839865 |
| ENSE00003792922 | 136837862 | 136838015 |
| ENSE00003794042 | 136831721 | 136831861 |
| ENSE00003795592 | 136823525 | 136823659 |
| ENSE00003795632 | 136837346 | 136837662 |
| ENSE00003795867 | 136825779 | 136825826 |
| ENSE00003795926 | 136840154 | 136840212 |
| ENSE00003797983 | 136838909 | 136839121 |
| ENSE00003799048 | 136828494 | 136828546 |
| ENSE00003800391 | 136839222 | 136839486 |
| ENSE00003849626 | 136807948 | 136808326 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 98.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 83.9612 / max 654.4916, expressed in 1827 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99558 | 83.9612 | 1827 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 98.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.03 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.95 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.26 | gold quality |
| apex of heart | UBERON:0002098 | 97.15 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.01 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.56 | gold quality |
| cerebellum | UBERON:0002037 | 96.52 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.49 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.44 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.29 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.12 | gold quality |
| pylorus | UBERON:0001166 | 96.02 | gold quality |
| amygdala | UBERON:0001876 | 95.92 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.91 | gold quality |
| body of pancreas | UBERON:0001150 | 95.85 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.83 | gold quality |
| muscle of leg | UBERON:0001383 | 95.77 | gold quality |
| putamen | UBERON:0001874 | 95.67 | gold quality |
| sural nerve | UBERON:0015488 | 95.40 | gold quality |
| pituitary gland | UBERON:0000007 | 95.31 | gold quality |
| transverse colon | UBERON:0001157 | 95.26 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.19 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.18 | gold quality |
| body of stomach | UBERON:0001161 | 95.06 | gold quality |
| renal medulla | UBERON:0000362 | 94.73 | gold quality |
| fundus of stomach | UBERON:0001160 | 94.70 | gold quality |
| lower esophagus | UBERON:0013473 | 94.64 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.64 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.53 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7052 | yes | 36.64 |
| E-ANND-3 | yes | 9.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting RABL6, 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-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-6882-3P | 98.23 | 67.01 | 1119 |
| HSA-MIR-122-5P | 97.23 | 64.92 | 1024 |
| HSA-MIR-4433B-3P | 97.22 | 63.62 | 663 |
| HSA-MIR-2861 | 95.24 | 65.47 | 1056 |
| HSA-MIR-12115 | 94.19 | 66.37 | 738 |
| HSA-MIR-10392-3P | 88.79 | 61.83 | 122 |
Literature-anchored findings (GeneRIF, showing 11)
- RBEL1A and RBEL1B are novel Rab-like proteins that localize in the nucleus and cytosol and may play an important role in breast tumorigenesis (PMID:17962191)
- characterization of all four RBEL1 splice variants in terms of their GTPase activities, subcellular localizations, regulations & potential functions; results indicate RBEL1 proteins are linked to cell growth & survival & possess unique characteristics (PMID:19433581)
- RBEL1A appears to function as a novel p53 negative regulator that facilitates MDM2-dependent p53 ubiquitylation and degradation. (PMID:23572512)
- Breast cancer patients with high levels of C9orf86 expression showed a significant trend towards worse survival compared to patients with low C9orf86 expression. (PMID:23977139)
- work identifies RABL6A as a novel negative regulator of Rb1 (PMID:25273089)
- Rb knockdown reversed RBEL1 depletion-induced tumor suppressive effects. In conclusion, the present results suggest that RBEL1 modulates cell proliferation and G1S transition by inhibiting Rb in osteosarcoma (PMID:26676380)
- The present work identifies RABL6A as a new inhibitor of the PP2A tumor suppressor and an essential activator of AKT in PNET cells. Our findings offer what we believe is a novel strategy of PP2A reactivation for treatment of PNETs as well as other human cancers driven by RABL6A overexpression and PP2A inactivation. (PMID:30721156)
- RABL6A Is an Essential Driver of MPNSTs that Negatively Regulates the RB1 Pathway and Sensitizes Tumor Cells to CDK4/6 Inhibitors. (PMID:32086342)
- High expression of RABL6 promotes cell proliferation and predicts poor prognosis in esophageal squamous cell carcinoma. (PMID:32600359)
- RABL6A Regulates Schwann Cell Senescence in an RB1-Dependent Manner. (PMID:34065204)
- CircTMC5 promotes gastric cancer progression and metastasis by targeting miR-361-3p/RABL6. (PMID:34296378)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rabl6b | ENSDARG00000077653 |
| danio_rerio | rabl6a | ENSDARG00000079046 |
| danio_rerio | ENSDARG00000115005 | |
| mus_musculus | Rabl6 | ENSMUSG00000015087 |
| rattus_norvegicus | Rabl6 | ENSRNOG00000016795 |
| caenorhabditis_elegans | WBGENE00008585 |
Protein
Protein identifiers
Rab-like protein 6 — Q3YEC7 (reviewed: Q3YEC7)
Alternative names: GTP-binding protein Parf, Partner of ARF, Rab-like protein 1
All UniProt accessions (4): Q3YEC7, F2Z2T0, G3V154, H0Y7H6
UniProt curated annotations — full annotation on UniProt →
Function. Small GTPase involved in the regulation of cell growth and survival. Promotes cellular proliferation. May reduce growth inhibitory activity of CDKN2A.
Subcellular location. Cytoplasm Nucleus.
Post-translational modifications. Isoform 1 is O-glycosylated, while other isoforms are not.
Miscellaneous. Predominant isoform. Overexpressed in about 67% of primary breast tumors.
Similarity. Belongs to the small GTPase superfamily. Rab family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q3YEC7-1 | 1, RBEL1A | yes |
| Q3YEC7-2 | 2 | |
| Q3YEC7-3 | 3, RBEL1B | |
| Q3YEC7-4 | 4, RBEL1D | |
| Q3YEC7-5 | 5 | |
| Q3YEC7-6 | 6, RBEL1C |
RefSeq proteins (3): NP_001167459, NP_001167460, NP_078994* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR040385 | RABL6 | Family |
Pfam: PF08477
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (49 total): modified residue 13, compositionally biased region 11, binding site 11, splice variant 6, region of interest 5, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3YEC7-F1 | 60.84 | 0.25 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (11): 55; 56; 57; 57; 70; 75; 75; 100; 176; 179; 215
Post-translational modifications (13): 1, 402, 425, 427, 470, 471, 492, 525, 577, 596, 599, 640, 641
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 97 (showing top):
RNGTGGGC_UNKNOWN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, AREB6_01, YY1_Q6, FOXD3_01, E2F_Q3, YY1_02, HFH8_01, E4F1_Q6, LIAO_METASTASIS, HFH1_01, NKX22_01, OUYANG_PROSTATE_CANCER_PROGRESSION_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, E2F1_Q3
GO Biological Process (0):
GO Molecular Function (5): G protein activity (GO:0003925), GTP binding (GO:0005525), nucleotide binding (GO:0000166), GTPase activity (GO:0003924), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| microtubule organizing center | 2 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| cytoplasm | 1 |
| centrosome | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
1853 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RABL6 | TBRG1 | Q3YBR2 | 774 |
| RABL6 | CCDC183 | Q5T5S1 | 625 |
| RABL6 | CDKN2AIP | Q9NXV6 | 624 |
| RABL6 | CDKN2A | P42771 | 617 |
| RABL6 | RABL3 | Q5HYI8 | 569 |
| RABL6 | CCDC138 | Q96M89 | 489 |
| RABL6 | VPS50 | Q96JG6 | 489 |
| RABL6 | NPM1 | P06748 | 465 |
| RABL6 | DPP7 | Q9UHL4 | 452 |
| RABL6 | CCDC186 | Q7Z3E2 | 447 |
| RABL6 | NUPR1 | O60356 | 444 |
| RABL6 | RABGGTA | Q92696 | 440 |
| RABL6 | LCN9 | Q8WX39 | 383 |
| RABL6 | TTLL11 | Q8NHH1 | 383 |
| RABL6 | RAB3IP | Q96QF0 | 380 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| AP3M1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SPINK7 | RABL6 | psi-mi:“MI:0915”(physical association) | 0.550 |
| AP3S1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| HDGFL2 | CDC7 | psi-mi:“MI:0914”(association) | 0.530 |
| MDFI | RABL6 | psi-mi:“MI:0915”(physical association) | 0.510 |
| RABL6 | MDFI | psi-mi:“MI:0915”(physical association) | 0.510 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| AP3D1 | psi-mi:“MI:0914”(association) | 0.460 | |
| RABL6 | CHD4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RABL6 | H1-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RABL6 | DNAJC3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECE1 | RABL6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RABL6 | BRME1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CALCOCO2 | RABL6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RBPMS | RABL6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Bub1b | ASAH1 | psi-mi:“MI:0914”(association) | 0.350 |
| Mis12 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDC42 | BBX | psi-mi:“MI:0914”(association) | 0.350 |
| RACGAP1 | STX18 | psi-mi:“MI:0914”(association) | 0.350 |
| ZWINT | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| Ercc6l | RPL17 | psi-mi:“MI:0914”(association) | 0.350 |
| NAF1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (161): RABL6 (Affinity Capture-RNA), RABL6 (Affinity Capture-RNA), MDM2 (Affinity Capture-Western), C19orf57 (Two-hybrid), RABL6 (Affinity Capture-MS), RABL6 (Affinity Capture-MS), RABL6 (Affinity Capture-MS), RABL6 (Affinity Capture-MS), RABL6 (Two-hybrid), RABL6 (Two-hybrid), RABL6 (Two-hybrid), RABL6 (Affinity Capture-Western), RABL6 (Affinity Capture-MS), RABL6 (Proximity Label-MS), RABL6 (Proximity Label-MS)
ESM2 similar proteins: A0A088MLT8, A0A0G2K0D3, A2AQ19, B3KU38, D3ZTQ1, E1BTG2, E6ZGB4, E9PSK7, O35274, O60271, O75151, O75376, P12755, P22682, P29536, P49140, Q08DA0, Q13191, Q3B7T9, Q3TTA7, Q3UHZ5, Q3USH5, Q3YEC7, Q4KKX4, Q58A65, Q5SFM8, Q5U3K5, Q60698, Q60974, Q62415, Q640N2, Q6P5Q4, Q6R891, Q70E73, Q80XA6, Q86YP4, Q8BVA4, Q8CHY6, Q8K4S7, Q8R3Y5
Diamond homologs: Q08DA0, Q3YEC7, Q5U3K5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
216 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 166 |
| Likely benign | 22 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3100 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:136808311:G:GT | donor_gain | 1.0000 |
| 9:136808327:G:GG | donor_gain | 1.0000 |
| 9:136823516:C:CA | acceptor_gain | 1.0000 |
| 9:136823522:CAG:C | acceptor_loss | 1.0000 |
| 9:136823523:A:AG | acceptor_gain | 1.0000 |
| 9:136823523:A:G | acceptor_loss | 1.0000 |
| 9:136823523:AGT:A | acceptor_gain | 1.0000 |
| 9:136823524:G:GA | acceptor_gain | 1.0000 |
| 9:136823524:GT:G | acceptor_gain | 1.0000 |
| 9:136823524:GTG:G | acceptor_gain | 1.0000 |
| 9:136823524:GTGA:G | acceptor_gain | 1.0000 |
| 9:136823524:GTGAA:G | acceptor_gain | 1.0000 |
| 9:136823655:CAAGA:C | donor_gain | 1.0000 |
| 9:136823656:AAGA:A | donor_gain | 1.0000 |
| 9:136823657:AGA:A | donor_gain | 1.0000 |
| 9:136823658:GA:G | donor_gain | 1.0000 |
| 9:136823658:GAG:G | donor_gain | 1.0000 |
| 9:136823659:AG:A | donor_loss | 1.0000 |
| 9:136823660:G:GG | donor_gain | 1.0000 |
| 9:136823660:G:T | donor_loss | 1.0000 |
| 9:136823664:GTGTG:G | donor_gain | 1.0000 |
| 9:136825777:A:AG | acceptor_gain | 1.0000 |
| 9:136825778:G:GG | acceptor_gain | 1.0000 |
| 9:136825824:AAGGT:A | donor_loss | 1.0000 |
| 9:136825827:G:GA | donor_loss | 1.0000 |
| 9:136828491:AAG:A | acceptor_gain | 1.0000 |
| 9:136828492:A:G | acceptor_gain | 1.0000 |
| 9:136829387:CCCCA:C | acceptor_loss | 1.0000 |
| 9:136829388:CCCAG:C | acceptor_loss | 1.0000 |
| 9:136829389:CCA:C | acceptor_loss | 1.0000 |
AlphaMissense
4777 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:136823531:T:A | I46K | 1.000 |
| 9:136823542:G:A | G50R | 1.000 |
| 9:136823542:G:C | G50R | 1.000 |
| 9:136823543:G:A | G50E | 1.000 |
| 9:136823543:G:T | G50V | 1.000 |
| 9:136823558:G:A | G55D | 1.000 |
| 9:136823582:T:C | L63P | 1.000 |
| 9:136823647:T:A | W85R | 1.000 |
| 9:136823647:T:C | W85R | 1.000 |
| 9:136825806:T:A | V98D | 1.000 |
| 9:136825808:T:A | W99R | 1.000 |
| 9:136825808:T:C | W99R | 1.000 |
| 9:136829479:G:C | K151N | 1.000 |
| 9:136829479:G:T | K151N | 1.000 |
| 9:136832321:G:A | G219D | 1.000 |
| 9:136832366:T:C | L234P | 1.000 |
| 9:136835764:T:C | L243P | 1.000 |
| 9:136808302:T:C | F36L | 0.999 |
| 9:136808303:T:C | F36S | 0.999 |
| 9:136808303:T:G | F36C | 0.999 |
| 9:136808304:C:A | F36L | 0.999 |
| 9:136808304:C:G | F36L | 0.999 |
| 9:136808306:C:A | A37D | 0.999 |
| 9:136808311:G:A | G39R | 0.999 |
| 9:136808311:G:C | G39R | 0.999 |
| 9:136808311:G:T | G39W | 0.999 |
| 9:136808320:T:G | Y42D | 0.999 |
| 9:136808325:C:A | N43K | 0.999 |
| 9:136808325:C:G | N43K | 0.999 |
| 9:136823531:T:G | I46R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000102818 (9:136826736 G>A), RS1000126799 (9:136829595 G>A), RS1000181719 (9:136829839 C>T), RS1000211335 (9:136829712 A>G), RS1000274682 (9:136807463 G>A,C,T), RS1000356824 (9:136822508 G>C,T), RS1000412325 (9:136822745 A>G), RS1000464160 (9:136822859 C>A,T), RS1000556063 (9:136825674 G>A), RS1000615416 (9:136817244 C>T), RS1000720128 (9:136811540 C>G,T), RS1000769206 (9:136811824 G>A), RS1000842532 (9:136840166 A>C,G), RS1000881418 (9:136806278 T>A,C), RS1001060441 (9:136811045 A>C)
Disease associations
OMIM: gene MIM:610615 | disease phenotypes: MIM:156000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (2): Meniere disease (MONDO:0007972), neurodevelopmental disorder (MONDO:0700092)
Orphanet (1): NON RARE IN EUROPE: Menière disease (Orphanet:45360)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002932_15 | Manganese levels | 8.000000e-06 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008575 | Meniere Disease | C09.218.568.217.500 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067258 (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 |
|---|---|---|---|---|
| 6.81 | Kd | 155 | nM | CHEMBL5653589 |
| 6.81 | ED50 | 155 | 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 | 2149182: Binding affinity to human RABL6 incubated for 45 mins by Kinobead based pull down assay | kd | 0.1550 | uM |
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases expression | 4 |
| perfluoro-n-nonanoic acid | decreases expression | 2 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| biochanin A | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| benzyloxycarbonylleucyl-leucyl-leucine aldehyde | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol Z | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cannabidiol | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652224 | Binding | Binding affinity to human RABL6 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 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0MG | Ubigene HeLa RABL6 KO | Cancer cell line | Female |
| CVCL_E0YH | Ubigene MCF-7 RABL6 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
233 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT01574313 | PHASE4 | COMPLETED | Effect of Stellate Ganglion Block on Meniere’s Disease |
| NCT02529475 | PHASE4 | TERMINATED | Evaluation of Inner Ear and Brain Structures With Contrast-enhanced MRI in Healthy Subjects (HYDROPS) |
| NCT04815187 | PHASE4 | ACTIVE_NOT_RECRUITING | Repurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere’s Disease |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT03664674 | PHASE3 | COMPLETED | Phase 3 Study of OTO-104 in Subjects With Unilateral Meniere’s Disease |
| NCT04677972 | PHASE3 | COMPLETED | SPI-1005 for the Treatment of Meniere’s Disease |
| NCT05851508 | PHASE3 | RECRUITING | The Effecttiveness of Intratympanic Methylprednisolon Injections Compared to Placebo in the Treatment of Vertigo Attacks in Meniere’s Disease |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT05420350 | PHASE2 | UNKNOWN | Lamotrigine and Bupropion for Meniere’s Disease |
| NCT06544434 | PHASE2 | RECRUITING | Laser Acupuncture for Meniere Disease |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT04674735 | PHASE1 | WITHDRAWN | Safety of APSLXR in Patients Presenting Vertigo of Vestibular Origin or Meniere’s Disease |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Meniere disease