MRPS9
gene geneOn this page
Also known as RPMS9MRP-S9S9mtuS9m
Summary
MRPS9 (mitochondrial ribosomal protein S9, HGNC:14501) is a protein-coding gene on chromosome 2q12.1, encoding Small ribosomal subunit protein uS9m (P82933). It is a selective cancer dependency (DepMap: 43.0% of cell lines).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein.
Source: NCBI Gene 64965 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 71 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 43.0% of screened cell lines
- MANE Select transcript:
NM_182640
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14501 |
| Approved symbol | MRPS9 |
| Name | mitochondrial ribosomal protein S9 |
| Location | 2q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPMS9, MRP-S9, S9mt, uS9m |
| Ensembl gene | ENSG00000135972 |
| Ensembl biotype | protein_coding |
| OMIM | 611975 |
| Entrez | 64965 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000258455, ENST00000413583, ENST00000472220, ENST00000886284, ENST00000886285, ENST00000886286, ENST00000886287, ENST00000886288, ENST00000886289, ENST00000925255, ENST00000925256, ENST00000925257, ENST00000925258, ENST00000925259
RefSeq mRNA: 1 — MANE Select: NM_182640
NM_182640
CCDS: CCDS2065
Canonical transcript exons
ENST00000258455 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000804379 | 105049171 | 105049350 |
| ENSE00001071850 | 105071313 | 105071375 |
| ENSE00001071851 | 105088984 | 105089069 |
| ENSE00001071852 | 105071459 | 105071489 |
| ENSE00001071854 | 105038069 | 105038227 |
| ENSE00001071855 | 105089920 | 105089995 |
| ENSE00001071856 | 105099670 | 105099960 |
| ENSE00001227995 | 105079983 | 105080062 |
| ENSE00003558300 | 105093530 | 105093638 |
| ENSE00003637653 | 105092401 | 105092569 |
| ENSE00003638767 | 105097155 | 105097324 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 97.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.3129 / max 455.4540, expressed in 1812 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21803 | 34.8275 | 1811 |
| 21802 | 0.4854 | 253 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 97.95 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.77 | gold quality |
| muscle of leg | UBERON:0001383 | 95.67 | gold quality |
| deltoid | UBERON:0001476 | 95.62 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 95.54 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.47 | gold quality |
| quadriceps femoris | UBERON:0001377 | 95.44 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.27 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.12 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.04 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.02 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.80 | gold quality |
| apex of heart | UBERON:0002098 | 94.42 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.41 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.39 | gold quality |
| myocardium | UBERON:0002349 | 94.35 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.35 | gold quality |
| muscle tissue | UBERON:0002385 | 94.33 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.21 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.14 | gold quality |
| biceps brachii | UBERON:0001507 | 94.06 | gold quality |
| heart | UBERON:0000948 | 94.01 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.75 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.61 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.60 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.54 | gold quality |
| rectum | UBERON:0001052 | 93.08 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.95 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.85 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.61 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-17 | no | 285.93 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting MRPS9, 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-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-7111-3P | 97.80 | 66.75 | 1467 |
| HSA-MIR-562 | 97.66 | 65.63 | 698 |
| HSA-MIR-6131 | 97.22 | 66.72 | 960 |
| HSA-MIR-346 | 97.01 | 66.97 | 662 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 43.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- MRPS9-Mediated Regulation of the PI3K/Akt/mTOR Pathway Inhibits Neuron Apoptosis and Protects Ischemic Stroke. (PMID:38381220)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrps9 | ENSDARG00000061505 |
| mus_musculus | Mrps9 | ENSMUSG00000060679 |
| rattus_norvegicus | Mrps9 | ENSRNOG00000016201 |
| drosophila_melanogaster | mRpS9 | FBGN0037529 |
| caenorhabditis_elegans | WBGENE00017319 |
Paralogs (1): RPS16 (ENSG00000105193)
Protein
Protein identifiers
Small ribosomal subunit protein uS9m — P82933 (reviewed: P82933)
Alternative names: 28S ribosomal protein S9, mitochondrial
All UniProt accessions (2): P82933, H7BZC4
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
Subcellular location. Mitochondrion.
Similarity. Belongs to the universal ribosomal protein uS9 family.
RefSeq proteins (1): NP_872578* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000754 | Ribosomal_uS9 | Family |
| IPR014721 | Ribsml_uS5_D2-typ_fold_subgr | Homologous_superfamily |
| IPR020568 | Ribosomal_Su5_D2-typ_SF | Homologous_superfamily |
| IPR020574 | Ribosomal_uS9_CS | Conserved_site |
| IPR023035 | Ribosomal_uS9_bact_plastid | Family |
Pfam: PF00380
UniProt features (29 total): helix 15, strand 9, transit peptide 1, chain 1, region of interest 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
77 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8CSS | ELECTRON MICROSCOPY | 2.36 |
| 7P2E | ELECTRON MICROSCOPY | 2.4 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 9OJM | ELECTRON MICROSCOPY | 2.5 |
| 8CSQ | ELECTRON MICROSCOPY | 2.54 |
| 8CSR | ELECTRON MICROSCOPY | 2.54 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 8CSP | ELECTRON MICROSCOPY | 2.66 |
| 7PNX | ELECTRON MICROSCOPY | 2.76 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 8CST | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7PO0 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 7PO1 | ELECTRON MICROSCOPY | 2.92 |
| 7PO3 | ELECTRON MICROSCOPY | 2.92 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6RW4 | ELECTRON MICROSCOPY | 2.97 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 8QRN | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8OIS | ELECTRON MICROSCOPY | 3 |
| 9G5C | ELECTRON MICROSCOPY | 3 |
| 9G5D | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P82933-F1 | 82.49 | 0.67 |
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 (1): 287
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9937383 | Mitochondrial ribosome-associated quality control |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5368287 | Mitochondrial translation |
| R-HSA-72766 | Translation |
MSigDB gene sets: 64 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, chr2q12, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GOCC_RIBOSOME, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_RIBOSOMAL_SUBUNIT, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOCC_MITOCHONDRIAL_PROTEIN_CONTAINING_COMPLEX, GOMF_STRUCTURAL_MOLECULE_ACTIVITY
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (7): nucleolus (GO:0005730), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), ribosome (GO:0005840), intracellular organelle lumen (GO:0070013), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 2 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 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 |
| ribosome | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar small ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular organelle | 1 |
| organelle lumen | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
3088 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPS9 | MRPS5 | P82675 | 773 |
| MRPS9 | MRPS16 | Q9Y3D3 | 676 |
| MRPS9 | MRPS10 | P82664 | 625 |
| MRPS9 | MRPS14 | O60783 | 607 |
| MRPS9 | MRPS30 | Q9NP92 | 599 |
| MRPS9 | MRPS11 | P82912 | 578 |
| MRPS9 | MRPS23 | Q9Y3D9 | 560 |
| MRPS9 | MRPL24 | Q96A35 | 559 |
| MRPS9 | MRPS15 | P82914 | 558 |
| MRPS9 | MRPL12 | P52815 | 547 |
| MRPS9 | MRPL20 | Q9BYC9 | 544 |
| MRPS9 | MRPS18C | Q9Y3D5 | 542 |
| MRPS9 | MRPL46 | Q9H2W6 | 539 |
| MRPS9 | MRPS7 | Q9Y2R9 | 517 |
| MRPS9 | MRPS26 | Q9BYN8 | 502 |
IntAct
339 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NAPA | SNAP23 | psi-mi:“MI:0914”(association) | 0.780 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ATP6V1C2 | ATP6V1G1 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOL12 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPS27 | MRPS14 | psi-mi:“MI:0914”(association) | 0.640 |
| BCCIP | MRPS9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPS9 | BCCIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| RPS6 | IPO7 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF707 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF331 | USP9Y | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL6 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT10B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| BHLHA15 | RPLP0 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF223 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (525): MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS)
ESM2 similar proteins: A2BHB7, A3KP74, A8PJJ2, B0W041, B0WGN4, B0WV73, B0XHW8, B3MN22, B4GX14, B4HXA6, B4JCX8, B4KEN8, B4M8L8, B4MVR2, B4P3Q9, B4Q572, B5DFW7, B5DK05, B7PZ18, B9INH0, B9RRX2, C3XVM1, C5DHL6, D3ZY68, D7STK2, E1FU46, E2RK33, E3MIE2, E3WSB5, O43716, P53260, P82933, Q16Q94, Q2KIF1, Q3B8B2, Q3ZBC2, Q4R5K7, Q4RSW7, Q58DQ5, Q5R4W7
Diamond homologs: A0ALT2, A1U3H7, A9EYT5, B8DB44, C1A3Z4, C1KZ11, C4XNQ1, O67723, P34388, P82933, Q03PZ0, Q1AU64, Q31IG5, Q47LM6, Q58DQ5, Q6FL25, Q71WI2, Q8Y459, Q927P3, Q9D7N3, A0LIV3, A0R8L3, A4QBS4, A4YVP2, A5CU75, A5EKC6, A5VPX4, A6GWU3, A6L0V0, A6X1V5, A7GK54, A7HXB2, A7INH2, A8I7Z9, A9MAG7, A9VPB1, A9W606, A9WMF9, B0RB77, B0T0S3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS9 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 236 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 |
|---|---|---|---|
| Mitochondrial translation | 15 | 13.3× | 2e-10 |
| Mitochondrial translation initiation | 15 | 12.3× | 2e-10 |
| Mitochondrial translation elongation | 15 | 12.3× | 2e-10 |
| Mitochondrial ribosome-associated quality control | 15 | 11.9× | 3e-10 |
| Mitochondrial translation termination | 15 | 10.6× | 1e-09 |
| Peptide chain elongation | 10 | 8.2× | 2e-05 |
| Viral mRNA Translation | 10 | 8.2× | 2e-05 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 10 | 8.1× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 16 | 13.5× | 6e-11 |
| cytoplasmic translation | 10 | 9.0× | 7e-05 |
| RNA processing | 8 | 8.5× | 1e-03 |
| translation | 17 | 8.5× | 1e-08 |
| ribosomal small subunit biogenesis | 7 | 7.7× | 6e-03 |
| mRNA splicing, via spliceosome | 12 | 5.3× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 50 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2469 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:105049154:T:G | acceptor_gain | 1.0000 |
| 2:105049157:A:AG | acceptor_gain | 1.0000 |
| 2:105049158:T:G | acceptor_gain | 1.0000 |
| 2:105049159:A:AG | acceptor_gain | 1.0000 |
| 2:105049165:T:A | acceptor_gain | 1.0000 |
| 2:105049346:TTGAC:T | donor_gain | 1.0000 |
| 2:105049347:TGAC:T | donor_gain | 1.0000 |
| 2:105049348:GAC:G | donor_gain | 1.0000 |
| 2:105049348:GACG:G | donor_gain | 1.0000 |
| 2:105049349:AC:A | donor_gain | 1.0000 |
| 2:105049350:CG:C | donor_loss | 1.0000 |
| 2:105049351:G:GG | donor_gain | 1.0000 |
| 2:105049351:GTAA:G | donor_loss | 1.0000 |
| 2:105049352:TA:T | donor_loss | 1.0000 |
| 2:105049353:AA:A | donor_loss | 1.0000 |
| 2:105071457:A:AG | acceptor_gain | 1.0000 |
| 2:105071458:G:GG | acceptor_gain | 1.0000 |
| 2:105071458:GC:G | acceptor_gain | 1.0000 |
| 2:105088983:GGAT:G | acceptor_gain | 1.0000 |
| 2:105089065:ACCAG:A | donor_gain | 1.0000 |
| 2:105089068:AGGT:A | donor_loss | 1.0000 |
| 2:105089069:GGT:G | donor_loss | 1.0000 |
| 2:105089070:GTA:G | donor_loss | 1.0000 |
| 2:105089071:T:G | donor_loss | 1.0000 |
| 2:105089512:G:GT | donor_gain | 1.0000 |
| 2:105089531:T:G | donor_gain | 1.0000 |
| 2:105089993:GAT:G | donor_gain | 1.0000 |
| 2:105092397:GCA:G | acceptor_loss | 1.0000 |
| 2:105092399:A:AG | acceptor_gain | 1.0000 |
| 2:105092399:AGT:A | acceptor_loss | 1.0000 |
AlphaMissense
2587 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:105099747:T:A | W393R | 0.993 |
| 2:105099747:T:C | W393R | 0.993 |
| 2:105099749:G:C | W393C | 0.991 |
| 2:105099749:G:T | W393C | 0.991 |
| 2:105049301:C:A | A89D | 0.989 |
| 2:105099741:T:C | F391L | 0.989 |
| 2:105099743:T:A | F391L | 0.989 |
| 2:105099743:T:G | F391L | 0.989 |
| 2:105089939:T:A | W199R | 0.987 |
| 2:105089939:T:C | W199R | 0.987 |
| 2:105071316:G:C | A107P | 0.986 |
| 2:105080007:G:C | R145P | 0.984 |
| 2:105080024:T:C | F151L | 0.984 |
| 2:105080026:C:A | F151L | 0.984 |
| 2:105080026:C:G | F151L | 0.984 |
| 2:105097259:G:C | R345P | 0.983 |
| 2:105049298:T:C | L88S | 0.982 |
| 2:105099756:C:A | R396S | 0.982 |
| 2:105049300:G:C | A89P | 0.981 |
| 2:105097252:G:C | A343P | 0.981 |
| 2:105099732:C:A | R388S | 0.981 |
| 2:105099676:T:C | L369P | 0.980 |
| 2:105093550:G:C | A281P | 0.979 |
| 2:105089958:T:C | L205P | 0.978 |
| 2:105097270:G:C | A349P | 0.978 |
| 2:105049276:T:C | F81L | 0.976 |
| 2:105049278:C:A | F81L | 0.976 |
| 2:105049278:C:G | F81L | 0.976 |
| 2:105097324:G:C | A367P | 0.976 |
| 2:105093537:A:C | R276S | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1000013088 (2:105056057 T>C,G), RS1000028147 (2:105046587 T>C,G), RS1000031865 (2:105089363 G>C,T), RS1000032730 (2:105098609 G>A,T), RS1000048040 (2:105053112 A>G), RS1000081826 (2:105056380 G>A), RS1000093153 (2:105097487 C>G,T), RS1000094755 (2:105048009 G>A), RS1000138528 (2:105096997 G>A), RS1000185133 (2:105092405 T>C,G), RS1000257756 (2:105041973 C>G), RS1000272594 (2:105060538 C>T), RS1000290737 (2:105083250 G>A), RS1000311756 (2:105048798 C>T), RS1000319740 (2:105092685 A>G)
Disease associations
OMIM: gene MIM:611975 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_42 | Body mass index | 1.000000e-08 |
| GCST009391_1642 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0007787 | plasma betaine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067104 (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 |
|---|---|---|---|---|
| 5.33 | Kd | 4630 | nM | CHEMBL5653589 |
| 5.33 | ED50 | 4630 | 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 | 2148782: Binding affinity to human MRPS9 incubated for 45 mins by Kinobead based pull down assay | kd | 4.6297 | uM |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 3 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| ferric ammonium citrate | increases expression, decreases reaction | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Deferoxamine | increases expression, decreases reaction | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cadmium Chloride | 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 |
|---|---|---|---|
| CHEMBL5651824 | Binding | Binding affinity to human MRPS9 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.