RPL32
gene geneOn this page
Also known as L32eL32
Summary
RPL32 (ribosomal protein L32, HGNC:10336) is a protein-coding gene on chromosome 3p25.2, encoding Large ribosomal subunit protein eL32 (P62910). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed for this gene.
Source: NCBI Gene 6161 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 21 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_000994
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10336 |
| Approved symbol | RPL32 |
| Name | ribosomal protein L32 |
| Location | 3p25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | L32, eL32 |
| Ensembl gene | ENSG00000144713 |
| Ensembl biotype | protein_coding |
| Entrez | 6161 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 30 protein_coding, 1 retained_intron
ENST00000273223, ENST00000396953, ENST00000396957, ENST00000429711, ENST00000434963, ENST00000435983, ENST00000452606, ENST00000457131, ENST00000865045, ENST00000865046, ENST00000935875, ENST00000935876, ENST00000935877, ENST00000935878, ENST00000935879, ENST00000935880, ENST00000935881, ENST00000935882, ENST00000935883, ENST00000935884, ENST00000935885, ENST00000935886, ENST00000935887, ENST00000935888, ENST00000935889, ENST00000935890, ENST00000935891, ENST00000935892, ENST00000935893, ENST00000935894, ENST00000946634
RefSeq mRNA: 3 — MANE Select: NM_000994
NM_000994, NM_001007073, NM_001007074
CCDS: CCDS2614
Canonical transcript exons
ENST00000429711 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000966699 | 12839349 | 12839530 |
| ENSE00001816985 | 12834485 | 12836223 |
| ENSE00001897902 | 12841494 | 12841565 |
| ENSE00003550665 | 12840142 | 12840242 |
Expression profiles
Bgee: expression breadth ubiquitous, 150 present calls, max score 99.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.5252 / max 701.0275, expressed in 1820 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41138 | 76.5252 | 1820 |
Top tissues by expression
152 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 99.92 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.92 | gold quality |
| cortical plate | UBERON:0005343 | 99.92 | gold quality |
| left ovary | UBERON:0002119 | 99.90 | gold quality |
| ovary | UBERON:0000992 | 99.89 | gold quality |
| right ovary | UBERON:0002118 | 99.89 | gold quality |
| zone of skin | UBERON:0000014 | 99.88 | gold quality |
| lymph node | UBERON:0000029 | 99.88 | gold quality |
| endocervix | UBERON:0000458 | 99.88 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.88 | gold quality |
| skin of leg | UBERON:0001511 | 99.88 | gold quality |
| fallopian tube | UBERON:0003889 | 99.88 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 99.87 | gold quality |
| mammary gland | UBERON:0001911 | 99.87 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 99.87 | gold quality |
| body of uterus | UBERON:0009853 | 99.87 | gold quality |
| granulocyte | CL:0000094 | 99.86 | gold quality |
| left uterine tube | UBERON:0001303 | 99.86 | gold quality |
| amygdala | UBERON:0001876 | 99.86 | gold quality |
| omental fat pad | UBERON:0010414 | 99.86 | gold quality |
| ectocervix | UBERON:0012249 | 99.86 | gold quality |
| uterine cervix | UBERON:0000002 | 99.85 | gold quality |
| right uterine tube | UBERON:0001302 | 99.85 | gold quality |
| temporal lobe | UBERON:0001871 | 99.85 | gold quality |
| nucleus accumbens | UBERON:0001882 | 99.85 | gold quality |
| left testis | UBERON:0004533 | 99.85 | gold quality |
| vagina | UBERON:0000996 | 99.84 | gold quality |
| rectum | UBERON:0001052 | 99.84 | gold quality |
| myometrium | UBERON:0001296 | 99.84 | gold quality |
| left coronary artery | UBERON:0001626 | 99.84 | gold quality |
Single-cell (SCXA)
Detected in 39 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-88 | yes | 9175.52 |
| E-CURD-122 | yes | 8625.04 |
| E-MTAB-9221 | yes | 8297.40 |
| E-GEOD-89232 | yes | 6001.54 |
| E-CURD-112 | yes | 39.65 |
| E-MTAB-6678 | yes | 37.34 |
| E-MTAB-9067 | yes | 28.55 |
| E-MTAB-10042 | yes | 17.01 |
| E-HCAD-35 | yes | 9.27 |
| E-MTAB-9801 | yes | 6.86 |
| E-GEOD-137537 | yes | 5.84 |
| E-HCAD-31 | yes | 4.15 |
| E-CURD-120 | no | 12234.44 |
| E-CURD-55 | no | 11868.82 |
| E-HCAD-1 | no | 11868.31 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ETV4, GLI3, MYC, TBP, ZBTB14
miRNA regulators (miRDB)
53 targeting RPL32, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-4520-2-3P | 99.14 | 69.28 | 1009 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- Biological effect of ribosomal protein L32 on human breast cancer cell behavior. (PMID:32705264)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rpl32 | ENSMUSG00000057841 |
| rattus_norvegicus | Rpl32 | ENSRNOG00000010746 |
| caenorhabditis_elegans | WBGENE00004446 |
Paralogs (1): POLR2L (ENSG00000177700)
Protein
Protein identifiers
Large ribosomal subunit protein eL32 — P62910 (reviewed: P62910)
Alternative names: 60S ribosomal protein L32
All UniProt accessions (4): P62910, D3YTB1, D3YTI8, F8W727
UniProt curated annotations — full annotation on UniProt →
Function. Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.
Subunit / interactions. Component of the large ribosomal subunit.
Subcellular location. Cytoplasm.
Similarity. Belongs to the eukaryotic ribosomal protein eL32 family.
RefSeq proteins (3): NP_000985, NP_001007074, NP_001007075 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001515 | Ribosomal_eL32 | Family |
| IPR018263 | Ribosomal_eL32_CS | Conserved_site |
| IPR036351 | Ribosomal_eL32_sf | Homologous_superfamily |
Pfam: PF01655
UniProt features (5 total): modified residue 2, initiator methionine 1, chain 1, cross-link 1
Structure
Experimental structures (PDB)
194 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8A3D | ELECTRON MICROSCOPY | 1.67 |
| 8GLP | ELECTRON MICROSCOPY | 1.67 |
| 8QYX | ELECTRON MICROSCOPY | 1.78 |
| 8QOI | ELECTRON MICROSCOPY | 1.9 |
| 9O3W | ELECTRON MICROSCOPY | 1.9 |
| 8YOO | ELECTRON MICROSCOPY | 2 |
| 9C3H | ELECTRON MICROSCOPY | 2 |
| 9I2D | ELECTRON MICROSCOPY | 2.19 |
| 9PBE | ELECTRON MICROSCOPY | 2.19 |
| 8QFD | ELECTRON MICROSCOPY | 2.2 |
| 8YOP | ELECTRON MICROSCOPY | 2.2 |
| 9GUL | ELECTRON MICROSCOPY | 2.2 |
| 9O3V | ELECTRON MICROSCOPY | 2.2 |
| 9O3Y | ELECTRON MICROSCOPY | 2.2 |
| 8JDK | ELECTRON MICROSCOPY | 2.26 |
| 8G5Y | ELECTRON MICROSCOPY | 2.29 |
| 9S3D | ELECTRON MICROSCOPY | 2.32 |
| 9RPV | ELECTRON MICROSCOPY | 2.35 |
| 9S3B | ELECTRON MICROSCOPY | 2.38 |
| 7OW7 | ELECTRON MICROSCOPY | 2.4 |
| 8K2C | ELECTRON MICROSCOPY | 2.4 |
| 8XSX | ELECTRON MICROSCOPY | 2.4 |
| 9SPF | ELECTRON MICROSCOPY | 2.4 |
| 9SPI | ELECTRON MICROSCOPY | 2.4 |
| 8JDL | ELECTRON MICROSCOPY | 2.42 |
| 9S3C | ELECTRON MICROSCOPY | 2.42 |
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 9QLO | ELECTRON MICROSCOPY | 2.47 |
| 8FLE | ELECTRON MICROSCOPY | 2.48 |
| 9P8B | ELECTRON MICROSCOPY | 2.48 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P62910-F1 | 92.52 | 0.87 |
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 (3): 50, 62, 9
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-156827 | L13a-mediated translational silencing of Ceruloplasmin expression |
| R-HSA-156902 | Peptide chain elongation |
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-192823 | Viral mRNA Translation |
| R-HSA-2408557 | Selenocysteine synthesis |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72689 | Formation of a pool of free 40S subunits |
| R-HSA-72706 | GTP hydrolysis and joining of the 60S ribosomal subunit |
| R-HSA-72764 | Eukaryotic Translation Termination |
| R-HSA-9010553 | Regulation of expression of SLITs and ROBOs |
| R-HSA-9633012 | Response of EIF2AK4 (GCN2) to amino acid deficiency |
| R-HSA-975956 | Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) |
| R-HSA-975957 | Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| R-HSA-9954709 | Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide |
| R-HSA-9954714 | PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA |
| R-HSA-9954716 | ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA |
MSigDB gene sets: 242 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_CYTOPLASMIC_TRANSLATION, GRUETZMANN_PANCREATIC_CANCER_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, MODULE_151, GNF2_TPT1, GCM_NPM1, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, TGACCTY_ERR1_Q2, GOBP_MALE_GAMETE_GENERATION, GGCNKCCATNK_UNKNOWN, EFC_Q6, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION
GO Biological Process (2): cytoplasmic translation (GO:0002181), translation (GO:0006412)
GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)
GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Ribosome-associated quality control | 3 |
| Translation | 2 |
| Cap-dependent Translation Initiation | 2 |
| Nonsense-Mediated Decay (NMD) | 2 |
| Eukaryotic Translation Initiation | 1 |
| Eukaryotic Translation Elongation | 1 |
| Influenza Viral RNA Transcription and Replication | 1 |
| Selenoamino acid metabolism | 1 |
| rRNA processing in the nucleus and cytosol | 1 |
| Signaling by ROBO receptors | 1 |
| Cellular response to starvation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| ribosome | 2 |
| translation | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| large ribosomal subunit | 1 |
| cytosolic ribosome | 1 |
| cytosol | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
271 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAP3K14 | CHUK | psi-mi:“MI:0914”(association) | 0.950 |
| UBA5 | UFM1 | psi-mi:“MI:0914”(association) | 0.890 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| EMC1 | EMC8 | psi-mi:“MI:0914”(association) | 0.640 |
| RACK1 | RPS17 | psi-mi:“MI:0915”(physical association) | 0.610 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| MAPT | KIF2A | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB10 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PUM3 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| CHLSN | RPL14 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS18 | RPS2 | psi-mi:“MI:0914”(association) | 0.530 |
| NSA2 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (522): RPL32 (Affinity Capture-MS), RPL32 (Affinity Capture-MS), RPL32 (Affinity Capture-MS), RPL32 (Affinity Capture-MS), RPL32 (Affinity Capture-MS), RPL32 (Affinity Capture-MS), RPL32 (Affinity Capture-MS), RPL17 (Co-fractionation), RPL23A (Co-fractionation), RPL27A (Co-fractionation), RPL32 (Co-fractionation), RPL32 (Co-fractionation), RPL32 (Co-fractionation), RPL32 (Co-fractionation), RPL32 (Co-fractionation)
ESM2 similar proteins: A5JSS2, A6H769, E2RKA8, G1SHQ2, G1SNY0, G1SQH0, G1SVB0, O09167, O14602, P12749, P14115, P18445, P20280, P30742, P41567, P46776, P46778, P47813, P47832, P49171, P49666, P61251, P61254, P61255, P61256, P61257, P62081, P62082, P62083, P62854, P62855, P62856, P62910, P62911, P62912, Q3SZQ6, Q4R723, Q56JV1, Q56K03, Q5E938
Diamond homologs: A0A1D8PPN6, A4FWA4, A6UQ61, A6VH02, A9A9P7, B6YSN1, C3MQ76, C3MVJ5, C3N5U4, C3NEG0, C3NH92, C4KHH3, C5A268, C6A177, E2RKA8, G1TUN8, O05638, O26128, O28371, O42935, O59435, O94008, P04359, P14549, P17932, P34040, P38061, P49211, P54010, P61127, P61128, P62910, P62911, P62912, P79015, P84311, P84312, P84313, P84314, P84323
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPL32 | “form complex” | “60S cytosolic large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 205 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 |
|---|---|---|---|
| Peptide chain elongation | 25 | 22.5× | 8e-26 |
| Viral mRNA Translation | 25 | 22.5× | 8e-26 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 25 | 22.2× | 9e-26 |
| Formation of a pool of free 40S subunits | 28 | 22.2× | 1e-28 |
| Eukaryotic Translation Termination | 26 | 22.2× | 2e-26 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 26 | 21.7× | 3e-26 |
| GTP hydrolysis and joining of the 60S ribosomal subunit | 30 | 21.3× | 1e-29 |
| Selenocysteine synthesis | 25 | 21.3× | 2e-25 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| formation of cytoplasmic translation initiation complex | 5 | 30.7× | 5e-05 |
| cytoplasmic translation | 28 | 28.3× | 1e-30 |
| ribosomal large subunit biogenesis | 10 | 24.2× | 2e-09 |
| stress granule assembly | 6 | 19.7× | 5e-05 |
| translational initiation | 8 | 15.7× | 6e-06 |
| translation | 27 | 15.2× | 1e-21 |
| negative regulation of innate immune response | 5 | 13.9× | 2e-03 |
| rRNA processing | 18 | 13.9× | 2e-13 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
719 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:12836220:AGATC:A | acceptor_loss | 1.0000 |
| 3:12836221:GATCT:G | acceptor_loss | 1.0000 |
| 3:12836222:ATCT:A | acceptor_loss | 1.0000 |
| 3:12836223:TC:T | acceptor_loss | 1.0000 |
| 3:12836224:C:CC | acceptor_gain | 1.0000 |
| 3:12836224:CTGC:C | acceptor_loss | 1.0000 |
| 3:12836225:T:C | acceptor_loss | 1.0000 |
| 3:12839343:A:C | donor_gain | 1.0000 |
| 3:12839345:TCAC:T | donor_loss | 1.0000 |
| 3:12839346:CA:C | donor_loss | 1.0000 |
| 3:12839347:A:AC | donor_gain | 1.0000 |
| 3:12839347:AC:A | donor_loss | 1.0000 |
| 3:12839348:C:CA | donor_gain | 1.0000 |
| 3:12839348:CT:C | donor_gain | 1.0000 |
| 3:12839348:CTT:C | donor_gain | 1.0000 |
| 3:12839348:CTTG:C | donor_gain | 1.0000 |
| 3:12839348:CTTGT:C | donor_gain | 1.0000 |
| 3:12839370:T:TA | donor_gain | 1.0000 |
| 3:12839526:TTACG:T | acceptor_gain | 1.0000 |
| 3:12839527:TACG:T | acceptor_gain | 1.0000 |
| 3:12839528:ACG:A | acceptor_gain | 1.0000 |
| 3:12839529:CG:C | acceptor_gain | 1.0000 |
| 3:12839529:CGC:C | acceptor_gain | 1.0000 |
| 3:12839530:GC:G | acceptor_loss | 1.0000 |
| 3:12839531:C:A | acceptor_loss | 1.0000 |
| 3:12839531:C:CC | acceptor_gain | 1.0000 |
| 3:12839532:T:A | acceptor_loss | 1.0000 |
| 3:12840137:CATA:C | donor_loss | 1.0000 |
| 3:12840138:ATAC:A | donor_loss | 1.0000 |
| 3:12840139:TAC:T | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000451897 (3:12838111 C>G), RS1000513194 (3:12837726 G>A), RS1001244320 (3:12838601 G>A), RS1001695529 (3:12838353 C>A), RS1002150051 (3:12843479 G>A,C), RS1002295133 (3:12837172 C>A), RS1002357374 (3:12834754 C>T), RS1002519717 (3:12839946 TCATTA>T), RS1002649287 (3:12837443 C>A,T), RS1002839436 (3:12834408 G>A,T), RS1003321345 (3:12841382 C>A,G,T), RS1003431646 (3:12835780 T>C), RS1003474942 (3:12834111 C>G,T), RS1003490279 (3:12841281 C>T), RS1004228754 (3:12837501 G>C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005956_72 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_11 | Waist-to-hip ratio adjusted for BMI (age <50) | 9.000000e-06 |
| GCST005958_19 | Waist-to-hip ratio adjusted for BMI (age >50) | 2.000000e-06 |
| GCST005962_29 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 9.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL6067484 | GENTAMICIN SULFATE | 4 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
46 potent at pChembl≥5 of 50 total, top 45 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.52 | IC50 | 300 | nM | CHEMBL4109308 |
| 6.42 | IC50 | 380 | nM | CHEMBL4109308 |
| 6.42 | IC50 | 380 | nM | CHEMBL4574496 |
| 6.41 | IC50 | 390 | nM | CHEMBL4126894 |
| 6.39 | IC50 | 410 | nM | CHEMBL4114159 |
| 6.35 | IC50 | 450 | nM | CHEMBL4126496 |
| 6.30 | IC50 | 500 | nM | CHEMBL4574496 |
| 6.30 | IC50 | 500 | nM | CHEMBL4560206 |
| 6.16 | IC50 | 690 | nM | CHEMBL4130157 |
| 6.15 | IC50 | 710 | nM | CHEMBL4108338 |
| 6.11 | IC50 | 780 | nM | CHEMBL4114159 |
| 6.09 | IC50 | 820 | nM | CHEMBL4109308 |
| 6.07 | IC50 | 850 | nM | CHEMBL4107559 |
| 6.07 | IC50 | 850 | nM | CHEMBL4533299 |
| 6.05 | IC50 | 900 | nM | CHEMBL4126894 |
| 6.05 | IC50 | 900 | nM | CHEMBL4126496 |
| 6.04 | IC50 | 920 | nM | CHEMBL4554909 |
| 5.97 | IC50 | 1060 | nM | CHEMBL4128388 |
| 5.89 | IC50 | 1290 | nM | CHEMBL4130157 |
| 5.86 | IC50 | 1370 | nM | CHEMBL4107559 |
| 5.84 | IC50 | 1440 | nM | CHEMBL4108338 |
| 5.81 | IC50 | 1540 | nM | CHEMBL4534859 |
| 5.76 | IC50 | 1730 | nM | CHEMBL4534859 |
| 5.69 | IC50 | 2050 | nM | CHEMBL4566239 |
| 5.68 | IC50 | 2080 | nM | CHEMBL4446635 |
| 5.66 | IC50 | 2210 | nM | CHEMBL4446635 |
| 5.66 | EC50 | 2200 | nM | CHEMBL4464929 |
| 5.64 | IC50 | 2270 | nM | CHEMBL4533299 |
| 5.63 | IC50 | 2330 | nM | CHEMBL4566239 |
| 5.62 | IC50 | 2380 | nM | CHEMBL4128388 |
| 5.58 | IC50 | 2630 | nM | CHEMBL4128250 |
| 5.55 | IC50 | 2820 | nM | CHEMBL4127458 |
| 5.53 | IC50 | 2970 | nM | CHEMBL4127311 |
| 5.51 | IC50 | 3080 | nM | CHEMBL4126072 |
| 5.46 | IC50 | 3500 | nM | CHEMBL4525277 |
| 5.44 | IC50 | 3630 | nM | CHEMBL4469712 |
| 5.39 | IC50 | 4100 | nM | CHEMBL4128560 |
| 5.37 | IC50 | 4300 | nM | CHEMBL4127016 |
| 5.36 | IC50 | 4380 | nM | CHEMBL4527910 |
| 5.16 | IC50 | 7000 | nM | CHEMBL4109308 |
| 5.13 | IC50 | 7400 | nM | CHLORAMPHENICOL SULFATE SALT |
| 5.09 | IC50 | 8040 | nM | CHEMBL4128250 |
| 5.08 | IC50 | 8370 | nM | CHEMBL4128250 |
| 5.03 | IC50 | 9320 | nM | CHEMBL4127016 |
| 5.03 | IC50 | 9240 | nM | CHEMBL4128560 |
PubChem BioAssay actives
46 with measured affinity, of 205 total; 26 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 |
|---|---|---|---|---|
| N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide | 1585498: Binding affinity to 80S ribosome in human HuH7 cells expressing human C-terminal V5/6-His-tagged PCSK9 assessed as inhibition of PCSK9 secretion after 16 to 24 hrs by AlphaLISA method | ic50 | 0.3000 | uM |
| N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-3-[4-(triazolo[4,5-b]pyridin-3-yl)phenyl]propanamide | 1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 0.3800 | uM |
| N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 0.3900 | uM |
| N-(3-chloro-2-pyridinyl)-4-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 0.4100 | uM |
| N-(3-chloro-2-pyridinyl)-4-(5-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 0.4500 | uM |
| N-(1-methylpyrrolo[2,3-c]pyridin-7-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide | 1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay | ic50 | 0.5000 | uM |
| N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylbenzamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 0.6900 | uM |
| N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-5-(triazolo[4,5-b]pyridin-3-yl)pyridine-2-carboxamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 0.7100 | uM |
| N-(3-chloro-2-pyridinyl)-3-[5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-2-pyridinyl]-N-[(3R)-piperidin-3-yl]propanamide | 1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 0.8500 | uM |
| N-(3-chloro-2-pyridinyl)-5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]pyridine-2-carboxamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 0.8500 | uM |
| N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylpiperidine-1-carboxamide | 1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay | ic50 | 0.9200 | uM |
| N-isoquinolin-1-yl-4-(1-methylpyrazol-4-yl)-N-[(3R)-piperidin-3-yl]benzamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 1.0600 | uM |
| N-isoquinolin-1-yl-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide | 1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay | ic50 | 1.5400 | uM |
| N-(3-methyl-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide | 1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 2.0500 | uM |
| N-(3-chloro-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide | 1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay | ic50 | 2.0800 | uM |
| N-(5,8-dihydroisoquinolin-1-yl)-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide | 1584424: Inhibition of human 80S ribosome-mediated PCSK9 translation expressed in CHO-K1 cells assessed as reduction in PCSK9 secretion | ec50 | 2.2000 | uM |
| N-isoquinolin-1-yl-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 2.6300 | uM |
| N-(3-chloro-2-pyridinyl)-4-(6-methylpyrazin-2-yl)-N-[(3R)-piperidin-3-yl]benzamide | 1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA | ic50 | 2.8200 | uM |
| N-(3-chloro-2-pyridinyl)-4-[6-(dimethylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide | 1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA | ic50 | 2.9700 | uM |
| N-(3-chloro-2-pyridinyl)-4-[6-(methylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide | 1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA | ic50 | 3.0800 | uM |
| N-isoquinolin-1-yl-4-(6-methyl-1,2-benzoxazol-3-yl)-N-[(3R)-piperidin-3-yl]piperazine-1-carboxamide | 1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 3.5000 | uM |
| N-(3-methylpyrazin-2-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide | 1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay | ic50 | 3.6300 | uM |
| N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-6-(triazolo[4,5-b]pyridin-3-yl)pyridine-3-carboxamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 4.1000 | uM |
| N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazin-2-ylbenzamide | 1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay | ic50 | 4.3000 | uM |
| 4-(2-fluorophenyl)-N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide | 1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay | ic50 | 4.3800 | uM |
| 2,2-dichloro-N-[(1R,2R)-1,3-dihydroxy-1-(4-nitrophenyl)propan-2-yl]acetamide;sulfuric acid | 717551: Inhibition of mitochondrial ribosome-mediated protein synthesis in human HeLa cells assessed as {35S]methionine incorporation by autoradiography | ic50 | 7.4000 | uM |
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| bisphenol S | increases expression, affects cotreatment, decreases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| tobacco tar | decreases expression | 1 |
| cupric chloride | affects expression | 1 |
| 4-hydroxy-equilenin | increases expression | 1 |
| azoxystrobin | increases expression | 1 |
| chloropicrin | affects expression | 1 |
| fenpyroximate | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| pyrimidifen | increases expression | 1 |
| oligofectamine | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 1-(4-(4-propionylpiperazin-1-yl)-3-(trifluoromethyl)phenyl)-9-(quinolin-3-yl)benzo(h)(1,6)naphthyridin-2(1H)-one | affects binding, decreases reaction, increases reaction, decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Amino Acids | decreases expression, increases reaction | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
ChEMBL screening assays
89 unique, capped per target: 89 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1920845 | Binding | Induction of ribosome to readthrough in human A-T lymphoblastoid cells assessed as ATM ser1981 autophosphorylation at 30 uM after 4 days by PTT-ELISA assay | Synthesis and evaluation of compounds that induce readthrough of premature termination codons. — Bioorg Med Chem Lett |
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.