MRPS24
gene geneOn this page
Also known as MRP-S24HSPC335
Summary
MRPS24 (mitochondrial ribosomal protein S24, HGNC:14510) is a protein-coding gene on chromosome 7p13, encoding Small ribosomal subunit protein uS3m (Q96EL2). It is a selective cancer dependency (DepMap: 44.7% 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. A pseudogene corresponding to this gene is found on chromosome 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene.
Source: NCBI Gene 64951 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 25 total — 1 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 44.7% of screened cell lines
- MANE Select transcript:
NM_032014
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14510 |
| Approved symbol | MRPS24 |
| Name | mitochondrial ribosomal protein S24 |
| Location | 7p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRP-S24, HSPC335 |
| Ensembl gene | ENSG00000062582 |
| Ensembl biotype | protein_coding |
| OMIM | 611986 |
| Entrez | 64951 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000317534, ENST00000414932, ENST00000418740, ENST00000467084, ENST00000483330, ENST00000934254, ENST00000934255
RefSeq mRNA: 1 — MANE Select: NM_032014
NM_032014
CCDS: CCDS5473
Canonical transcript exons
ENST00000317534 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000832521 | 43869457 | 43869517 |
| ENSE00003570906 | 43866558 | 43866982 |
| ENSE00003644121 | 43868963 | 43869074 |
| ENSE00003687563 | 43869308 | 43869376 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 98.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 90.2703 / max 352.0826, expressed in 1825 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 83815 | 88.3756 | 1823 |
| 83816 | 1.2936 | 469 |
| 83814 | 0.5513 | 282 |
| 83817 | 0.0498 | 18 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 98.76 | gold quality |
| apex of heart | UBERON:0002098 | 98.67 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.67 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.40 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.31 | gold quality |
| body of pancreas | UBERON:0001150 | 98.29 | gold quality |
| muscle of leg | UBERON:0001383 | 98.26 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.25 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.25 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.22 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.19 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.15 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.09 | gold quality |
| heart | UBERON:0000948 | 98.00 | gold quality |
| body of stomach | UBERON:0001161 | 97.94 | gold quality |
| fundus of stomach | UBERON:0001160 | 97.90 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.76 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 97.65 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.52 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.52 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.49 | gold quality |
| esophagus | UBERON:0001043 | 97.48 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.46 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.43 | gold quality |
| lower esophagus | UBERON:0013473 | 97.36 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.35 | gold quality |
| cortex of kidney | UBERON:0001225 | 97.30 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.27 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 97.25 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.21 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 17.31 |
| E-MTAB-10042 | yes | 14.33 |
| E-MTAB-8894 | no | 134.09 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): YY1
miRNA regulators (miRDB)
13 targeting MRPS24, 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-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
| HSA-MIR-493-3P | 97.50 | 66.44 | 731 |
| HSA-MIR-1910-5P | 97.42 | 66.36 | 844 |
| HSA-MIR-6826-5P | 93.80 | 67.42 | 514 |
| HSA-MIR-662 | 90.64 | 62.72 | 148 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 44.7% of screened cell lines.
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrps24 | ENSDARG00000100116 |
| mus_musculus | Mrps24 | ENSMUSG00000020477 |
| drosophila_melanogaster | mRpS24 | FBGN0039159 |
| caenorhabditis_elegans | WBGENE00023487 |
Protein
Protein identifiers
Small ribosomal subunit protein uS3m — Q96EL2 (reviewed: Q96EL2)
Alternative names: 28S ribosomal protein S24, mitochondrial, bMRP-47
All UniProt accessions (2): Q96EL2, F8VYR5
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 uS3 family.
RefSeq proteins (1): NP_114403* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026146 | Ribosomal_uS3m | Family |
Pfam: PF14955
UniProt features (17 total): strand 7, helix 5, turn 2, transit peptide 1, chain 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-Q96EL2-F1 | 86.75 | 0.78 |
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: 116 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, MODULE_151, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, chr7p13, ZHAN_MULTIPLE_MYELOMA_CD1_AND_CD2_DN, MODULE_114, GOCC_RIBOSOME, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_RIBOSOMAL_SUBUNIT
GO Biological Process (1): mitochondrial translation (GO:0032543)
GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), ribosome (GO:0005840), 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 |
|---|---|
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 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 membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
149 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| HSPD1 | NUDT19 | psi-mi:“MI:0914”(association) | 0.710 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF331 | USP9Y | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS24 | ZZEF1 | 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 |
| TRMT10B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF556 | LRP4 | 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 |
| ZNF707 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP70 | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC59 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| ZFC3H1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (342): MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MRPS24 (Affinity Capture-MS), MMADHC (Affinity Capture-MS), MRPS34 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS)
ESM2 similar proteins: A2A9C3, A2VD95, A4IG66, P0C2B8, P82649, Q01433, Q02356, Q0V9C9, Q1JPG0, Q2M2T7, Q3B8K3, Q3SX05, Q3SZV6, Q3ZBF3, Q499B3, Q4R5Q4, Q502C1, Q5BLE2, Q5EA71, Q5PQN9, Q5TC12, Q5U2X7, Q5XIC2, Q6NTS3, Q7L4E1, Q7Z7F7, Q810S1, Q811I0, Q861Y6, Q8BIW9, Q8BWM0, Q8K2M0, Q8VDR9, Q8WVB6, Q96DV4, Q96EL2, Q96HP0, Q9BQ95, Q9BSH3, Q9BUB7
Diamond homologs: Q2M2T7, Q3B8K3, Q502C1, Q61T16, Q688C0, Q6NTS3, Q96EL2, Q9CQV5, Q9VCC3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS24 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 161 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 | 21 | 27.5× | 3e-23 |
| Mitochondrial ribosome-associated quality control | 23 | 26.9× | 1e-24 |
| Mitochondrial translation initiation | 22 | 26.6× | 7e-24 |
| Mitochondrial translation elongation | 22 | 26.6× | 7e-24 |
| Mitochondrial translation termination | 22 | 23.0× | 1e-22 |
| Translation | 25 | 14.8× | 6e-21 |
| Peptide chain elongation | 7 | 8.5× | 5e-04 |
| Viral mRNA Translation | 7 | 8.5× | 5e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 24 | 28.2× | 1e-25 |
| RNA processing | 10 | 14.8× | 3e-07 |
| translation | 18 | 12.5× | 2e-12 |
| cytoplasmic translation | 9 | 11.3× | 2e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 9.9× | 3e-03 |
| ribosomal small subunit biogenesis | 6 | 9.2× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1047889 | GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) | Pathogenic |
SpliceAI
314 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:43866979:TTAC:T | acceptor_gain | 1.0000 |
| 7:43866980:TAC:T | acceptor_gain | 1.0000 |
| 7:43866980:TACCT:T | acceptor_loss | 1.0000 |
| 7:43866981:ACC:A | acceptor_loss | 1.0000 |
| 7:43866982:CCT:C | acceptor_loss | 1.0000 |
| 7:43866983:C:CC | acceptor_gain | 1.0000 |
| 7:43868959:TCA:T | donor_loss | 1.0000 |
| 7:43868960:CA:C | donor_loss | 1.0000 |
| 7:43868960:CACCT:C | donor_loss | 1.0000 |
| 7:43869070:CGGTT:C | acceptor_gain | 1.0000 |
| 7:43869071:GGTT:G | acceptor_gain | 1.0000 |
| 7:43869072:GTT:G | acceptor_gain | 1.0000 |
| 7:43869072:GTTC:G | acceptor_loss | 1.0000 |
| 7:43869073:TT:T | acceptor_gain | 1.0000 |
| 7:43869074:TCTA:T | acceptor_loss | 1.0000 |
| 7:43869075:C:CC | acceptor_gain | 1.0000 |
| 7:43869075:CT:C | acceptor_loss | 1.0000 |
| 7:43869075:CTA:C | acceptor_loss | 1.0000 |
| 7:43869076:T:G | acceptor_loss | 1.0000 |
| 7:43869305:CAC:C | donor_loss | 1.0000 |
| 7:43869306:A:AC | donor_gain | 1.0000 |
| 7:43869306:A:AT | donor_loss | 1.0000 |
| 7:43869306:AC:A | donor_gain | 1.0000 |
| 7:43869307:C:CC | donor_gain | 1.0000 |
| 7:43869307:C:CT | donor_loss | 1.0000 |
| 7:43869307:CC:C | donor_gain | 1.0000 |
| 7:43866981:AC:A | acceptor_gain | 0.9900 |
| 7:43866982:CC:C | acceptor_gain | 0.9900 |
| 7:43868961:A:AC | donor_gain | 0.9900 |
| 7:43868962:C:CC | donor_gain | 0.9900 |
AlphaMissense
1057 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:43866786:A:C | S139R | 0.993 |
| 7:43866786:A:T | S139R | 0.993 |
| 7:43866788:T:G | S139R | 0.993 |
| 7:43868985:T:A | K66N | 0.993 |
| 7:43868985:T:G | K66N | 0.993 |
| 7:43868986:T:A | K66I | 0.991 |
| 7:43866903:G:C | F100L | 0.988 |
| 7:43866903:G:T | F100L | 0.988 |
| 7:43866905:A:G | F100L | 0.988 |
| 7:43866870:C:A | K111N | 0.987 |
| 7:43866870:C:G | K111N | 0.987 |
| 7:43866938:C:G | D89H | 0.986 |
| 7:43866760:T:A | K148I | 0.985 |
| 7:43866918:G:C | F95L | 0.985 |
| 7:43866918:G:T | F95L | 0.985 |
| 7:43866920:A:G | F95L | 0.985 |
| 7:43866904:A:G | F100S | 0.983 |
| 7:43866919:A:G | F95S | 0.982 |
| 7:43866869:G:T | R112S | 0.979 |
| 7:43866931:A:G | F91S | 0.977 |
| 7:43866801:G:C | F134L | 0.975 |
| 7:43866801:G:T | F134L | 0.975 |
| 7:43866803:A:G | F134L | 0.975 |
| 7:43866930:G:C | F91L | 0.975 |
| 7:43866930:G:T | F91L | 0.975 |
| 7:43866932:A:G | F91L | 0.975 |
| 7:43866708:C:A | K165N | 0.973 |
| 7:43866708:C:G | K165N | 0.973 |
| 7:43866791:A:C | Y138D | 0.973 |
| 7:43868981:A:G | W68R | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000104388 (7:43870222 G>A), RS1000269093 (7:43870798 C>T), RS1000342757 (7:43867557 T>A), RS1000808574 (7:43870501 T>C), RS1003533494 (7:43869177 C>T), RS1003658303 (7:43870864 C>T), RS1004530434 (7:43870960 A>G), RS1004729373 (7:43866350 C>A,G), RS1005634574 (7:43869771 TGA>T), RS1007189125 (7:43866172 G>A), RS1007564890 (7:43868313 C>T), RS1007885904 (7:43868026 C>T), RS1007946756 (7:43868633 G>A,C), RS1008117864 (7:43869459 G>A,T), RS1008479420 (7:43867047 G>C,T)
Disease associations
OMIM: gene MIM:611986 | 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 |
|---|---|---|
| GCST001762_536 | Obesity-related traits | 7.000000e-06 |
| GCST004487_8 | Peak insulin response | 4.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004887 | maximal oxygen uptake measurement |
| EFO:0008000 | peak insulin response measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067375 (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 |
|---|---|---|---|---|
| 6.14 | Kd | 728.7 | nM | CHEMBL5653589 |
| 6.09 | ED50 | 811.7 | 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 | 2148778: Binding affinity to human MRPS24 incubated for 45 mins by Kinobead based pull down assay | kd | 0.7287 | uM |
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects cotreatment, increases expression, affects expression | 4 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | increases methylation | 1 |
| sulforaphane | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Acetaminophen | decreases expression, affects cotreatment | 1 |
| Atrazine | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Hydralazine | increases expression, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Sodium Selenite | 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 |
|---|---|---|---|
| CHEMBL5651820 | Binding | Binding affinity to human MRPS24 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.