RRP15
gene geneOn this page
Also known as CGI-115
Summary
RRP15 (ribosomal RNA processing 15 homolog, HGNC:24255) is a protein-coding gene on chromosome 1q41, encoding RRP15-like protein (Q9Y3B9). It is a common-essential gene (DepMap: required in 94.2% of cancer cell lines).
This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit.
Source: NCBI Gene 51018 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 45 total — 2 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 94.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016052
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24255 |
| Approved symbol | RRP15 |
| Name | ribosomal RNA processing 15 homolog |
| Location | 1q41 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-115 |
| Ensembl gene | ENSG00000067533 |
| Ensembl biotype | protein_coding |
| OMIM | 611193 |
| Entrez | 51018 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000366932, ENST00000491428, ENST00000925041, ENST00000925042, ENST00000925043, ENST00000925044, ENST00000925045
RefSeq mRNA: 1 — MANE Select: NM_016052
NM_016052
CCDS: CCDS1520
Canonical transcript exons
ENST00000366932 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001000133 | 218305028 | 218305125 |
| ENSE00001000134 | 218307431 | 218307632 |
| ENSE00001000135 | 218302294 | 218302559 |
| ENSE00001443017 | 218330948 | 218337983 |
| ENSE00001443018 | 218285293 | 218285455 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 91.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.4053 / max 997.1908, expressed in 1782 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8594 | 24.4053 | 1782 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 91.50 | gold quality |
| oocyte | CL:0000023 | 90.00 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.74 | gold quality |
| cartilage tissue | UBERON:0002418 | 87.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.12 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 85.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.35 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 85.18 | gold quality |
| heart right ventricle | UBERON:0002080 | 85.11 | gold quality |
| muscle of leg | UBERON:0001383 | 84.98 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 84.29 | gold quality |
| squamous epithelium | UBERON:0006914 | 84.19 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.86 | gold quality |
| biceps brachii | UBERON:0001507 | 83.85 | gold quality |
| myocardium | UBERON:0002349 | 83.64 | silver quality |
| adrenal tissue | UBERON:0018303 | 83.35 | gold quality |
| muscle organ | UBERON:0001630 | 83.13 | gold quality |
| gingival epithelium | UBERON:0001949 | 83.05 | gold quality |
| tendon | UBERON:0000043 | 83.02 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 82.86 | gold quality |
| oviduct epithelium | UBERON:0004804 | 82.41 | gold quality |
| amniotic fluid | UBERON:0000173 | 82.20 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 82.04 | gold quality |
| nephron tubule | UBERON:0001231 | 81.95 | gold quality |
| ventricular zone | UBERON:0003053 | 81.89 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 81.86 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 81.84 | gold quality |
| oral cavity | UBERON:0000167 | 81.56 | gold quality |
| gingiva | UBERON:0001828 | 81.49 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 729.84 |
| E-CURD-7 | yes | 589.96 |
| E-ENAD-21 | yes | 534.35 |
| E-ANND-3 | yes | 8.31 |
| E-MTAB-6142 | no | 53.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
315 targeting RRP15, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 94.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 5)
- The budding yeast homolog of human RRP15 is required for maturation of 60S ribosomal particles (PMID:15769876)
- Data suggest that ribosomal RNA-processing protein 15 (RRP15) might be a potential target for cancer therapy. (PMID:28099941)
- Inhibition of ribosomal RNA processing 15 Homolog (RRP15), which is overexpressed in hepatocellular carcinoma, suppresses tumour growth via induction of senescence and apoptosis. (PMID:34343634)
- RRP15 deficiency induces ribosome stress to inhibit colorectal cancer proliferation and metastasis via LZTS2-mediated beta-catenin suppression. (PMID:36750557)
- Inhibition of Ribosomal RNA Processing 15 Homolog (RRP15) Suppressed Tumor Growth, Invasion and Epithelial to Mesenchymal Transition (EMT) of Colon Cancer. (PMID:36834940)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rrp15 | ENSDARG00000013478 |
| mus_musculus | Rrp15 | ENSMUSG00000001305 |
| rattus_norvegicus | Rrp15 | ENSRNOG00000002450 |
| drosophila_melanogaster | CG3817 | FBGN0038275 |
Protein
Protein identifiers
RRP15-like protein — Q9Y3B9 (reviewed: Q9Y3B9)
Alternative names: Ribosomal RNA-processing protein 15
All UniProt accessions (1): Q9Y3B9
UniProt curated annotations — full annotation on UniProt →
Post-translational modifications. Citrullinated by PADI4.
Similarity. Belongs to the RRP15 family.
RefSeq proteins (1): NP_057136* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012459 | Rrp15 | Family |
Pfam: PF07890
UniProt features (29 total): modified residue 11, cross-link 5, compositionally biased region 4, sequence variant 3, region of interest 2, initiator methionine 1, chain 1, sequence conflict 1, coiled-coil region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKQ | ELECTRON MICROSCOPY | 2.76 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3B9-F1 | 67.76 | 0.15 |
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 (16): 9, 11, 19, 58, 67, 104, 206, 266, 276, 280, 108, 179, 208, 239, 239, 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 235 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, ELVIDGE_HYPOXIA_DN, GOBP_RIBOSOME_BIOGENESIS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_MATURATION_OF_LSU_RRNA, MODULE_171, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_MATURATION_OF_5_8S_RRNA, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS
GO Biological Process (3): maturation of 5.8S rRNA (GO:0000460), maturation of LSU-rRNA (GO:0000470), rRNA processing (GO:0006364)
GO Molecular Function (0):
GO Cellular Component (1): preribosome, large subunit precursor (GO:0030687)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| rRNA processing | 2 |
| ribosomal large subunit biogenesis | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| preribosome | 1 |
Protein interactions and networks
STRING
2296 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RRP15 | CSNK2A1 | P19138 | 780 |
| RRP15 | SURF6 | O75683 | 774 |
| RRP15 | PAK1IP1 | Q9NWT1 | 696 |
| RRP15 | GNL2 | Q13823 | 676 |
| RRP15 | NSA2 | O95478 | 666 |
| RRP15 | EBNA1BP2 | Q99848 | 657 |
| RRP15 | NOP2 | P46087 | 647 |
| RRP15 | WDR12 | Q9GZL7 | 626 |
| RRP15 | SPATA17 | Q96L03 | 625 |
| RRP15 | WDR74 | Q6RFH5 | 614 |
| RRP15 | GPATCH2 | Q9NW75 | 608 |
| RRP15 | NMD3 | Q96D46 | 591 |
| RRP15 | RRP12 | Q5JTH9 | 568 |
| RRP15 | PWP1 | Q13610 | 558 |
| RRP15 | SDAD1 | Q9NVU7 | 557 |
IntAct
85 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SART3 | PRPF4 | psi-mi:“MI:0914”(association) | 0.730 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| NOP56 | C12orf43 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 | |
| SGTB | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNCRIP | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| OASL | LARP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| PPAN | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| C6orf11 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| TAF1D | psi-mi:“MI:0914”(association) | 0.350 | |
| USP2 | LONP1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPN6 | RPL35A | psi-mi:“MI:0914”(association) | 0.350 |
| N | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| N | MRPL45 | psi-mi:“MI:0914”(association) | 0.350 |
| EIF2AK2 | NKRF | psi-mi:“MI:0914”(association) | 0.350 |
| SYK | PLEKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SRPK1 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (183): RRP15 (Affinity Capture-MS), RRP15 (Affinity Capture-MS), DDX27 (Co-fractionation), DDX54 (Co-fractionation), NIFK (Co-fractionation), PAK1IP1 (Co-fractionation), RBM28 (Co-fractionation), RPF2 (Co-fractionation), RRP15 (Co-fractionation), RRP15 (Co-fractionation), RRP15 (Co-fractionation), RRP15 (Co-fractionation), RRP15 (Proximity Label-MS), RRP15 (Affinity Capture-MS), RRP15 (Affinity Capture-MS)
ESM2 similar proteins: A0AUP1, A4II15, A7MCB7, E1C760, F6RRD7, F7AEX0, P14629, P78316, Q1L8X2, Q28DG8, Q2IA00, Q3T071, Q3U155, Q3ZCI6, Q4R6T7, Q4R8R3, Q4R8V8, Q4V7N4, Q5PQS7, Q5R939, Q5RA37, Q5XI65, Q5ZIH9, Q5ZIM6, Q6DFL5, Q6IEG0, Q6PBE2, Q6PII3, Q7SYB2, Q7ZXA8, Q80VN0, Q8C6C7, Q8C9J3, Q8CIL4, Q8IXW5, Q8R3N1, Q8R3N6, Q8VYD3, Q93VM9, Q95JM8
Diamond homologs: P91318, Q3T062, Q5M947, Q61RF0, Q7ZV20, Q9CYX7, Q9Y3B9, Q296J6, Q9VFE6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 115 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 | 17 | 28.8× | 9e-19 |
| Viral mRNA Translation | 17 | 28.8× | 9e-19 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 17 | 28.4× | 9e-19 |
| Selenocysteine synthesis | 17 | 27.2× | 1e-18 |
| Eukaryotic Translation Termination | 17 | 27.2× | 1e-18 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 17 | 26.7× | 1e-18 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 17 | 26.7× | 1e-18 |
| Formation of a pool of free 40S subunits | 17 | 25.4× | 3e-18 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 19 | 33.8× | 2e-21 |
| ribosomal large subunit biogenesis | 7 | 29.9× | 4e-07 |
| ribosomal small subunit biogenesis | 10 | 21.9× | 5e-09 |
| translation | 19 | 18.8× | 1e-16 |
| negative regulation of viral genome replication | 5 | 18.0× | 6e-04 |
| rRNA processing | 13 | 17.7× | 9e-11 |
| negative regulation of translation | 8 | 15.1× | 6e-06 |
| RNA processing | 6 | 12.6× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1199385 | Single allele | Pathogenic |
| 565226 | GRCh37/hg19 1q41(chr1:218486800-218632368)x1 | Pathogenic |
SpliceAI
1297 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:218285453:AAG:A | donor_gain | 1.0000 |
| 1:218285453:AAGGT:A | donor_loss | 1.0000 |
| 1:218285454:AG:A | donor_loss | 1.0000 |
| 1:218285455:GGTAA:G | donor_loss | 1.0000 |
| 1:218285456:G:C | donor_loss | 1.0000 |
| 1:218285457:T:G | donor_loss | 1.0000 |
| 1:218302283:T:TA | acceptor_gain | 1.0000 |
| 1:218302284:G:A | acceptor_gain | 1.0000 |
| 1:218302289:TATA:T | acceptor_loss | 1.0000 |
| 1:218302290:A:AG | acceptor_gain | 1.0000 |
| 1:218302291:T:G | acceptor_gain | 1.0000 |
| 1:218302292:A:AG | acceptor_gain | 1.0000 |
| 1:218302292:AG:A | acceptor_gain | 1.0000 |
| 1:218302293:G:GT | acceptor_gain | 1.0000 |
| 1:218302293:GG:G | acceptor_gain | 1.0000 |
| 1:218302293:GGA:G | acceptor_gain | 1.0000 |
| 1:218302293:GGAA:G | acceptor_gain | 1.0000 |
| 1:218307425:CTACA:C | acceptor_loss | 1.0000 |
| 1:218307430:GGGGT:G | acceptor_gain | 1.0000 |
| 1:218307611:G:GT | donor_gain | 1.0000 |
| 1:218307630:CAGGT:C | donor_loss | 1.0000 |
| 1:218307631:AGGT:A | donor_loss | 1.0000 |
| 1:218307632:GGTAA:G | donor_loss | 1.0000 |
| 1:218307633:G:T | donor_loss | 1.0000 |
| 1:218307634:T:A | donor_loss | 1.0000 |
| 1:218317413:G:GT | donor_gain | 1.0000 |
| 1:218330936:A:AG | acceptor_gain | 1.0000 |
| 1:218331036:A:T | donor_gain | 1.0000 |
| 1:218331102:G:GT | donor_gain | 1.0000 |
| 1:218331103:A:T | donor_gain | 1.0000 |
AlphaMissense
1900 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:218307453:G:C | A176P | 0.999 |
| 1:218307457:T:A | V177D | 0.999 |
| 1:218305119:C:A | A166E | 0.998 |
| 1:218307433:G:A | G169D | 0.998 |
| 1:218307445:T:C | L173S | 0.998 |
| 1:218307447:T:C | F174L | 0.998 |
| 1:218307449:T:A | F174L | 0.998 |
| 1:218307449:T:G | F174L | 0.998 |
| 1:218330978:T:A | W246R | 0.998 |
| 1:218330978:T:C | W246R | 0.998 |
| 1:218331028:G:C | W262C | 0.998 |
| 1:218331028:G:T | W262C | 0.998 |
| 1:218305107:T:C | L162P | 0.997 |
| 1:218305118:G:C | A166P | 0.997 |
| 1:218307432:G:C | G169R | 0.997 |
| 1:218307448:T:C | F174S | 0.997 |
| 1:218307555:T:C | F210L | 0.997 |
| 1:218307556:T:C | F210S | 0.997 |
| 1:218307557:C:A | F210L | 0.997 |
| 1:218307557:C:G | F210L | 0.997 |
| 1:218330980:G:C | W246C | 0.997 |
| 1:218330980:G:T | W246C | 0.997 |
| 1:218331026:T:A | W262R | 0.997 |
| 1:218331026:T:C | W262R | 0.997 |
| 1:218307447:T:A | F174I | 0.996 |
| 1:218307454:C:A | A176D | 0.996 |
| 1:218307568:T:C | L214S | 0.996 |
| 1:218302428:T:A | W92R | 0.995 |
| 1:218302428:T:C | W92R | 0.995 |
| 1:218307439:T:A | V171E | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000084257 (1:218334567 A>G,T), RS1000119690 (1:218314450 G>A,T), RS1000172028 (1:218318303 CT>C), RS1000174107 (1:218314132 G>A,T), RS1000212412 (1:218294503 A>G,T), RS1000346425 (1:218333433 A>G), RS1000401757 (1:218320497 A>T), RS1000439863 (1:218299141 A>C), RS1000453435 (1:218315652 C>T), RS1000491125 (1:218296312 T>G), RS1000510777 (1:218316904 T>C), RS1000682541 (1:218322677 C>G), RS1000749644 (1:218320807 C>A), RS1000811660 (1:218328589 G>C), RS1000913554 (1:218302950 G>A,C)
Disease associations
OMIM: gene MIM:611193 | disease phenotypes: MIM:614816
GenCC curated gene-disease
Mondo (1): Loeys-Dietz syndrome 4 (MONDO:0013897)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_4 | Acne (severe) | 4.000000e-08 |
| GCST007692_9 | Chronic obstructive pulmonary disease | 5.000000e-06 |
| GCST90000025_852 | Appendicular lean mass | 3.000000e-11 |
| GCST90020028_457 | Hip circumference adjusted for BMI | 3.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067113 (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 |
|---|---|---|---|---|
| 5.93 | Kd | 1177 | nM | CHEMBL5653589 |
| 5.93 | ED50 | 1177 | 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 | 2149323: Binding affinity to human RRP15 incubated for 45 mins by Kinobead based pull down assay | kd | 1.1768 | uM |
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects cotreatment, increases expression, affects expression | 6 |
| bisphenol A | decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Estradiol | increases expression | 2 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| afuresertib | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| alpha phellandrene | decreases expression | 1 |
| trichostatin A | decreases expression, increases expression | 1 |
| 2-butenal | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chloride | decreases expression, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652365 | Binding | Binding affinity to human RRP15 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Loeys-Dietz syndrome 4