MRPS18A

Summary

MRPS18A (mitochondrial ribosomal protein S18A, HGNC:14515) is a protein-coding gene on chromosome 6p21.1, encoding Large ribosomal subunit protein mL66 (Q9NVS2). It is a selective cancer dependency (DepMap: 63.2% 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 that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55168 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 48 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 63.2% of screened cell lines
• MANE Select transcript: NM_018135

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14515
Approved symbol	MRPS18A
Name	mitochondrial ribosomal protein S18A
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10548, MRPS18-3, mL66
Ensembl gene	ENSG00000096080
Ensembl biotype	protein_coding
OMIM	611981
Entrez	55168

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000372116, ENST00000372133, ENST00000427312, ENST00000890921, ENST00000890922, ENST00000890923, ENST00000924155

RefSeq mRNA: 2 — MANE Select: NM_018135 NM_001193343, NM_018135

CCDS: CCDS4906, CCDS55006

Canonical transcript exons

ENST00000372133 — 6 exons

Exon	Start	End
ENSE00000753322	43687668	43687791
ENSE00001037911	43681089	43681120
ENSE00001141023	43675202	43675271
ENSE00001141027	43675494	43675617
ENSE00001141032	43678518	43678625
ENSE00001839390	43671202	43671906

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 96.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.4108 / max 199.3231, expressed in 1821 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73713	37.2513	1821
73712	0.1595	43

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	96.54	gold quality
muscle of leg	UBERON:0001383	96.02	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.69	gold quality
mucosa of transverse colon	UBERON:0004991	95.37	gold quality
muscle organ	UBERON:0001630	94.74	gold quality
lower esophagus mucosa	UBERON:0035834	94.52	gold quality
cervix squamous epithelium	UBERON:0006922	94.51	gold quality
apex of heart	UBERON:0002098	94.22	gold quality
body of stomach	UBERON:0001161	93.74	gold quality
rectum	UBERON:0001052	93.67	gold quality
heart left ventricle	UBERON:0002084	93.23	gold quality
esophagus mucosa	UBERON:0002469	93.07	gold quality
cardiac ventricle	UBERON:0002082	92.99	gold quality
endothelial cell	CL:0000115	92.78	gold quality
right adrenal gland	UBERON:0001233	92.22	gold quality
right lobe of liver	UBERON:0001114	92.21	gold quality
transverse colon	UBERON:0001157	92.16	gold quality
left adrenal gland	UBERON:0001234	91.99	gold quality
esophagus	UBERON:0001043	91.89	gold quality
stomach	UBERON:0000945	91.87	gold quality
parotid gland	UBERON:0001831	91.83	gold quality
skeletal muscle tissue	UBERON:0001134	91.75	gold quality
left adrenal gland cortex	UBERON:0035825	91.75	gold quality
right adrenal gland cortex	UBERON:0035827	91.73	gold quality
heart	UBERON:0000948	91.56	gold quality
decidua	UBERON:0002450	91.40	gold quality
squamous epithelium	UBERON:0006914	91.38	gold quality
right atrium auricular region	UBERON:0006631	91.34	gold quality
prefrontal cortex	UBERON:0000451	91.30	gold quality
tongue squamous epithelium	UBERON:0006919	91.06	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting MRPS18A, 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-513B-5P	99.99	69.96	2150
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-5581-3P	98.55	70.31	1161
HSA-MIR-3158-3P	98.45	64.25	560
HSA-MIR-4433A-3P	97.75	62.82	1435
HSA-MIR-3928-3P	97.61	66.53	1096
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-7108-5P	96.42	66.17	598
HSA-MIR-555	95.92	65.25	564

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 63.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• We identified the mitochondrial protein Mrps18a as being upregulated in human breast cancer cells compared to normal breast cells. (PMID:28056857)
• Long Noncoding RNA TRIM52-AS1 Sponges miR-514a-5p to Facilitate Hepatocellular Carcinoma Progression Through Increasing MRPS18A. (PMID:32391716)
• Expression pattern of MRPS18 family genes in gliomas. (PMID:34591434)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps18a	ENSDARG00000024465
mus_musculus	Mrps18a	ENSMUSG00000023967
rattus_norvegicus	Mrps18a	ENSRNOG00000019511
drosophila_melanogaster	mRpS18A	FBGN0051450
caenorhabditis_elegans		WBGENE00022580
caenorhabditis_elegans		WBGENE00022583

Protein

Protein identifiers

Large ribosomal subunit protein mL66 — Q9NVS2 (reviewed: Q9NVS2)

Alternative names: 39S ribosomal protein S18-3, mitochondrial, 39S ribosomal protein S18a, mitochondrial, Large ribosomal subunit protein bS18a

All UniProt accessions (2): Q9NVS2, Q5QPA5

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). 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. mL66 forms a zinc-binding site with uL10m.

Subcellular location. Mitochondrion.

Miscellaneous. There are 3 mitochondrial isoforms of bS18 in mammalia, localizing to 3 distinct sites in the mitoribosome. bS18m (bs18c) binds to the same site as bacterial bS18, mS40 (bS18b) binds to a novel location of the 28S small subunit, and mL66 (bS18a, this protein) binds to the 39S large subunit.

Similarity. Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mL66 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NVS2-1	1	yes
Q9NVS2-2	2
Q9NVS2-3	3

RefSeq proteins (2): NP_001180272, NP_060605* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001648	Ribosomal_bS18	Family
IPR036870	Ribosomal_bS18_sf	Homologous_superfamily

Pfam: PF01084

UniProt features (18 total): helix 9, strand 5, splice variant 2, transit peptide 1, chain 1

Structure

Experimental structures (PDB)

85 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7OF0	ELECTRON MICROSCOPY	2.2
7QI4	ELECTRON MICROSCOPY	2.21
8RRI	ELECTRON MICROSCOPY	2.4
8QU5	ELECTRON MICROSCOPY	2.42
9OLF	ELECTRON MICROSCOPY	2.46
7OF7	ELECTRON MICROSCOPY	2.5
7PO4	ELECTRON MICROSCOPY	2.56
6ZM6	ELECTRON MICROSCOPY	2.59
7O9M	ELECTRON MICROSCOPY	2.6
7OF6	ELECTRON MICROSCOPY	2.6
9CN3	ELECTRON MICROSCOPY	2.62
7QI5	ELECTRON MICROSCOPY	2.63
7OF2	ELECTRON MICROSCOPY	2.7
7OF3	ELECTRON MICROSCOPY	2.7
7OF4	ELECTRON MICROSCOPY	2.7
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
8ANY	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7QH7	ELECTRON MICROSCOPY	2.89
7ODR	ELECTRON MICROSCOPY	2.9
7OF5	ELECTRON MICROSCOPY	2.9
8K2A	ELECTRON MICROSCOPY	2.9
8OIT	ELECTRON MICROSCOPY	2.9
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98
9PSM	ELECTRON MICROSCOPY	2.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVS2-F1	86.85	0.73

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: 117 (showing top): SHEPARD_CRASH_AND_BURN_MUTANT_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_TRANSLATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_TRANSLATION, GGAANCGGAANY_UNKNOWN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, WONG_MITOCHONDRIA_GENE_MODULE, GOCC_LARGE_RIBOSOMAL_SUBUNIT

GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)

GO Molecular Function (2): structural constituent of ribosome (GO:0003735), small ribosomal subunit rRNA binding (GO:0070181)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), 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
mitochondrial ribosome	2
mitochondrial protein-containing complex	2
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
mitochondrion	1
translation	1
mitochondrial gene expression	1
structural molecule activity	1
ribosome	1
rRNA binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
organellar large ribosomal subunit	1
organellar small ribosomal subunit	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

2580 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS18A	MRPS18B	Q9Y676	986
MRPS18A	MRPS18C	Q9Y3D5	980
MRPS18A	MRPS7	Q9Y2R9	684
MRPS18A	MRPL2	Q5T653	646
MRPS18A	ERAL1	O75616	595
MRPS18A	MRPS14	O60783	586
MRPS18A	MTG1	Q9BT17	585
MRPS18A	MRPL45	Q9BRJ2	568
MRPS18A	MRPL1	Q9BYD6	557
MRPS18A	MRPS28	Q9Y2Q9	550
MRPS18A	MRPL32	Q9BYC8	547
MRPS18A	MRPL24	Q96A35	537
MRPS18A	MRPL16	Q9NX20	529
MRPS18A	MRPL52	Q86TS9	519
MRPS18A	MRPL53	Q96EL3	501

IntAct

110 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL10	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPL42	GATC	psi-mi:“MI:0914”(association)	0.530
RPL6	MRPS14	psi-mi:“MI:0914”(association)	0.530
MRPL28	MRPL3	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
FBXW11	AHCYL1	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL27	MRPL33	psi-mi:“MI:0914”(association)	0.530
NDUFAB1	MIEF1	psi-mi:“MI:0915”(physical association)	0.490
NIPSNAP1	TNRC18	psi-mi:“MI:0914”(association)	0.350
MRPL50	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL9	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL1	MRPL43	psi-mi:“MI:0914”(association)	0.350
FOXL2	RTCA	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
	ZNF316	psi-mi:“MI:0914”(association)	0.350
MRPL4	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
MRPL35	IPO5	psi-mi:“MI:0914”(association)	0.350
FBXW11	PTCD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (199): MRPS18A (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPL39 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), HNRNPA1 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPS18A (Reconstituted Complex)

ESM2 similar proteins: A6QPQ5, A9X1A9, O95707, P0C2C1, P82664, P82670, P82675, P82915, P82919, P82933, Q08BI9, Q0P5E7, Q0VFH6, Q2KIB9, Q2KID9, Q2KIJ6, Q2TBK2, Q2TBR2, Q3MHY7, Q3SYS0, Q3T040, Q58DQ5, Q58DV5, Q5C9Z4, Q5R7B0, Q5REJ1, Q5REY4, Q5RFM3, Q641X9, Q7Z2W9, Q7Z7H8, Q8N3Z3, Q8TCC3, Q924T2, Q99N85, Q99N87, Q99N94, Q9BSH4, Q9BYD2, Q9BYD6

Diamond homologs: A0K2H3, A0LAG7, A0RLQ1, A1RC68, A2BR66, A2BWJ6, A2C261, A2C9R4, A3PCY9, A4ITV8, A4VXF9, A4W3Q0, A5G7R2, A5GLA3, A5IJG9, A6MVX7, A7GVN5, A7HKU5, A8G4V8, A8YW49, A9KKC8, A9VTK8, A9WVL3, B0B929, B0BAQ8, B0C2J3, B0JVN4, B0K5L7, B0K8G2, B1L8K5, B1X3I0, B2GJD6, B2J0D3, B3W6R6, B5Y876, B7HGD2, B7HZF9, B7IS16, B7JIJ9, B8H839

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS18A	“form complex”	“39S mitochondrial large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 102 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 ribosome-associated quality control	34	54.9×	1e-50
Mitochondrial translation	29	52.5×	1e-42
Mitochondrial translation initiation	31	51.8×	3e-45
Mitochondrial translation elongation	31	51.8×	3e-45
Mitochondrial translation termination	31	44.8×	4e-43
Translation	30	24.5×	5e-33
Peptide chain elongation	8	13.4×	4e-06
Viral mRNA Translation	8	13.4×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	33	61.0×	2e-49
mitochondrial large ribosomal subunit assembly	5	52.7×	3e-06
translation	25	27.3×	3e-27
cytoplasmic translation	8	15.8×	3e-06
regulation of alternative mRNA splicing, via spliceosome	6	15.6×	2e-04
negative regulation of translation	6	12.5×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

48 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1158 predictions. Top by Δscore:

Variant	Effect	Δscore
6:43671905:ACCTG:A	acceptor_loss	1.0000
6:43671906:CCTGT:C	acceptor_loss	1.0000
6:43671907:CTGT:C	acceptor_loss	1.0000
6:43671908:T:A	acceptor_loss	1.0000
6:43675614:CATC:C	acceptor_gain	1.0000
6:43675615:ATC:A	acceptor_gain	1.0000
6:43675617:CCTAG:C	acceptor_gain	1.0000
6:43675618:C:CC	acceptor_gain	1.0000
6:43675621:G:C	acceptor_gain	1.0000
6:43675629:C:CT	acceptor_gain	1.0000
6:43675629:C:T	acceptor_gain	1.0000
6:43675630:G:T	acceptor_gain	1.0000
6:43678516:A:AC	donor_gain	1.0000
6:43678517:C:CC	donor_gain	1.0000
6:43678517:CGT:C	donor_gain	1.0000
6:43681087:A:AC	donor_gain	1.0000
6:43681088:C:CT	donor_gain	1.0000
6:43681118:CCA:C	acceptor_gain	1.0000
6:43681119:CAC:C	acceptor_gain	1.0000
6:43681121:C:CC	acceptor_gain	1.0000
6:43671902:GGTAC:G	acceptor_gain	0.9900
6:43671903:GTAC:G	acceptor_gain	0.9900
6:43671904:TAC:T	acceptor_gain	0.9900
6:43671905:AC:A	acceptor_gain	0.9900
6:43671906:CC:C	acceptor_gain	0.9900
6:43671907:C:CC	acceptor_gain	0.9900
6:43675488:TTCTA:T	donor_loss	0.9900
6:43675489:TCTAC:T	donor_loss	0.9900
6:43675490:CTACC:C	donor_loss	0.9900
6:43675491:TA:T	donor_loss	0.9900

AlphaMissense

1249 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:43675594:G:C	F92L	0.996
6:43675594:G:T	F92L	0.996
6:43675596:A:G	F92L	0.996
6:43675595:A:G	F92S	0.992
6:43678562:A:G	C70R	0.986
6:43675505:G:T	A122D	0.985
6:43675499:C:G	R124P	0.980
6:43675506:C:G	A122P	0.979
6:43675497:C:G	A125P	0.977
6:43675595:A:C	F92C	0.977
6:43678547:A:G	W75R	0.977
6:43678547:A:T	W75R	0.977
6:43675550:A:G	L107P	0.976
6:43675604:A:T	L89H	0.976
6:43678528:T:G	Y81S	0.970
6:43678561:C:G	C70S	0.969
6:43678562:A:T	C70S	0.969
6:43675268:A:G	L127P	0.967
6:43675516:A:C	C118W	0.967
6:43675550:A:T	L107Q	0.966
6:43675548:A:G	C108R	0.965
6:43678529:A:C	Y81D	0.965
6:43678540:A:G	L77P	0.964
6:43678555:A:T	I72N	0.961
6:43675556:G:T	T105K	0.960
6:43675596:A:T	F92I	0.960
6:43675518:A:G	C118R	0.958
6:43675607:A:T	L88Q	0.958
6:43678545:C:A	W75C	0.958
6:43678545:C:G	W75C	0.958

dbSNP variants (sampled 300 via entrez): RS1000004865 (6:43683208 C>G), RS1000029790 (6:43685099 A>G,T), RS1000065981 (6:43676911 G>C), RS1000182324 (6:43677229 T>C), RS1000628468 (6:43672343 C>A), RS1000694900 (6:43671334 T>C), RS1000955548 (6:43672491 C>T), RS1001114269 (6:43689243 A>G), RS1001130448 (6:43672599 C>G), RS1001131041 (6:43676134 C>T), RS1001184940 (6:43675889 T>C,G), RS1001294556 (6:43673235 G>A), RS1002222465 (6:43688093 C>G,T), RS1002392999 (6:43681249 C>T), RS1002747578 (6:43681485 A>G)

Disease associations

OMIM: gene MIM:611981 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST003403_2	Vascular endothelial growth factor levels	2.000000e-17
GCST005956_58	Waist-to-hip ratio adjusted for BMI	7.000000e-26
GCST005957_1	Waist-to-hip ratio adjusted for BMI (age <50)	2.000000e-14
GCST005958_2	Waist-to-hip ratio adjusted for BMI (age >50)	2.000000e-19
GCST005962_2	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-31
GCST008992_13	Joint damage in rheumatoid arthritis	5.000000e-06
GCST008993_9	Joint damage in rheumatoid arthritis	2.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0005413	joint damage measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067444 (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
7.24	Kd	57.67	nM	CHEMBL5653589
7.24	ED50	57.67	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	2148775: Binding affinity to human MRPS18A incubated for 45 mins by Kinobead based pull down assay	kd	0.0577	uM

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	increases expression	1
propionaldehyde	increases methylation	1
nonanal	increases methylation	1
n-hexanal	increases methylation	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
caprylic aldehyde	increases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	increases methylation	1
heptanal	increases methylation	1
perfluorooctane sulfonic acid	increases expression	1
cylindrospermopsin	increases expression	1
bisphenol B	increases expression	1
abrine	increases expression	1
Decitabine	increases expression	1
Acetaminophen	affects cotreatment, decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Ozone	increases abundance, affects expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Dihydrotestosterone	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	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
CHEMBL5651817	Binding	Binding affinity to human MRPS18A 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.