MRPS28

Summary

MRPS28 (mitochondrial ribosomal protein S28, HGNC:14513) is a protein-coding gene on chromosome 8q21.13, encoding Small ribosomal subunit protein bS1m (Q9Y2Q9). It is a selective cancer dependency (DepMap: 30.2% 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 has been called mitochondrial ribosomal protein S35 in the literature.

Source: NCBI Gene 28957 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Limited, ClinGen) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 90 total — 1 pathogenic
• Phenotypes (HPO): 25
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 30.2% of screened cell lines
• MANE Select transcript: NM_014018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14513
Approved symbol	MRPS28
Name	mitochondrial ribosomal protein S28
Location	8q21.13
Locus type	gene with protein product
Status	Approved
Aliases	MRP-S28, HSPC007, MRPS35
Ensembl gene	ENSG00000147586
Ensembl biotype	protein_coding
OMIM	611990
Entrez	28957

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 16 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000276585, ENST00000518271, ENST00000518371, ENST00000519120, ENST00000519386, ENST00000520946, ENST00000521434, ENST00000521605, ENST00000522987, ENST00000854562, ENST00000854563, ENST00000854564, ENST00000854565, ENST00000854566, ENST00000854567, ENST00000854568, ENST00000854569

RefSeq mRNA: 1 — MANE Select: NM_014018 NM_014018

CCDS: CCDS6226

Canonical transcript exons

ENST00000276585 — 3 exons

Exon	Start	End
ENSE00001173728	80030036	80030259
ENSE00002129955	79918717	79919148
ENSE00003562403	80002999	80003180

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 98.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.5527 / max 421.0361, expressed in 1806 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93678	21.3144	1798
93677	2.9560	1419
93676	0.2822	110

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.15	gold quality
right adrenal gland	UBERON:0001233	97.34	gold quality
right adrenal gland cortex	UBERON:0035827	97.23	gold quality
left adrenal gland	UBERON:0001234	96.96	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.87	gold quality
adrenal gland	UBERON:0002369	96.75	gold quality
left adrenal gland cortex	UBERON:0035825	96.67	gold quality
gastrocnemius	UBERON:0001388	96.62	gold quality
muscle of leg	UBERON:0001383	96.59	gold quality
skeletal muscle organ	UBERON:0014892	96.57	gold quality
islet of Langerhans	UBERON:0000006	96.49	gold quality
heart left ventricle	UBERON:0002084	96.36	gold quality
substantia nigra	UBERON:0002038	96.24	gold quality
skeletal muscle tissue	UBERON:0001134	95.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.88	gold quality
heart	UBERON:0000948	95.81	gold quality
right atrium auricular region	UBERON:0006631	95.81	gold quality
hypothalamus	UBERON:0001898	95.57	gold quality
mucosa of transverse colon	UBERON:0004991	95.42	gold quality
caudate nucleus	UBERON:0001873	95.36	gold quality
putamen	UBERON:0001874	95.36	gold quality
nucleus accumbens	UBERON:0001882	95.35	gold quality
amygdala	UBERON:0001876	95.23	gold quality
muscle tissue	UBERON:0002385	95.23	gold quality
adult mammalian kidney	UBERON:0000082	95.07	gold quality
temporal lobe	UBERON:0001871	95.02	gold quality
anterior cingulate cortex	UBERON:0009835	94.98	gold quality
placenta	UBERON:0001987	94.96	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.95	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.95	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.40
E-CURD-112	yes	9.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

4 targeting MRPS28, 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-545-3P	99.95	70.74	2783
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 30.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• MRPS28 joins the ranks of genes encoding mitoribosomal proteins linked to impaired mitoribosomal biogenesis and function in mitochondrial disease. (PMID:30566640)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps28	ENSDARG00000041538
mus_musculus	Mrps28	ENSMUSG00000040269
rattus_norvegicus	Mrps28	ENSRNOG00000032630
drosophila_melanogaster	mRpS28	FBGN0034361
caenorhabditis_elegans		WBGENE00012830

Protein

Protein identifiers

Small ribosomal subunit protein bS1m — Q9Y2Q9 (reviewed: Q9Y2Q9)

Alternative names: 28S ribosomal protein S28, mitochondrial, 28S ribosomal protein S35, mitochondrial

All UniProt accessions (11): Q9Y2Q9, A0A0S2Z563, A0A0S2Z5D2, A0A0S2Z5H0, E5RFH3, E5RFT8, E5RGC7, E5RK86, H0YAT2, H7C5V3, U3KQQ8

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.

Disease relevance. Combined oxidative phosphorylation deficiency 47 (COXPD47) [MIM:618958] An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the bacterial ribosomal protein bS1 family.

RefSeq proteins (1): NP_054737* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019375	Ribosomal_bS1m	Family

Pfam: PF10246

UniProt features (16 total): strand 7, helix 3, modified residue 2, sequence variant 2, transit peptide 1, chain 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-Q9Y2Q9-F1	77.94	0.53

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 (2): 73, 133

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: 304 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, TGACCTY_ERR1_Q2, GOBP_TRANSLATION, chr12p11, WEI_MYCN_TARGETS_WITH_E_BOX, ONKEN_UVEAL_MELANOMA_UP, WANG_LMO4_TARGETS_DN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, HNF4_01, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON

GO Biological Process (1): mitochondrial translation (GO:0032543)

GO Molecular Function (1): RNA binding (GO:0003723)

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
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

1240 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS28	GSTCD	Q8NEC7	614
MRPS28	DEXI	O95424	571
MRPS28	MRPS18A	Q9NVS2	550
MRPS28	MRPS18B	Q9Y676	464
MRPS28	SMYD1	Q8NB12	460
MRPS28	CENPU	Q71F23	447
MRPS28	AURKAIP1	Q9NWT8	446
MRPS28	MOGAT2	Q3SYC2	441
MRPS28	DRD3	P35462	407
MRPS28	TSR3	Q9UJK0	347
MRPS28	SLC26A4	O43511	346
MRPS28	MRPL17	Q9NRX2	346
MRPS28	UQCR10	Q9UDW1	339
MRPS28	MRPS26	Q9BYN8	310
MRPS28	CIITA	P33076	298

IntAct

115 interactions, top by confidence:

A	B	Type	Score
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
ERBB3	PIK3R2	psi-mi:“MI:0914”(association)	0.700
MRPS27	MRPS14	psi-mi:“MI:0914”(association)	0.640
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
MRPS15	MRPS14	psi-mi:“MI:0914”(association)	0.530
TRMT10B	MRPS14	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
MRPS15	PRKACG	psi-mi:“MI:0914”(association)	0.530
MRPS27	YBX1	psi-mi:“MI:0914”(association)	0.530
MRPS34	MRPS12	psi-mi:“MI:0914”(association)	0.530
MRPS11	MRPS14	psi-mi:“MI:0914”(association)	0.530
CFAP20	KPNA4	psi-mi:“MI:0914”(association)	0.510
FUS	DDX3X	psi-mi:“MI:0914”(association)	0.430
FLT3	MRPS28	psi-mi:“MI:0915”(physical association)	0.400
NP	HNRNPDL	psi-mi:“MI:0914”(association)	0.350
NP	HNRNPAB	psi-mi:“MI:0914”(association)	0.350
NP	KPNA4	psi-mi:“MI:0914”(association)	0.350
NP	KPNA6	psi-mi:“MI:0914”(association)	0.350
NP	TRIM66	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
DND1	RPSA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (278): MRPS28 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), MRPS22 (Co-fractionation), MRPS27 (Co-fractionation), MRPS28 (Co-fractionation), MRPS28 (Co-fractionation), MRPS28 (Co-fractionation), MRPS28 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS)

ESM2 similar proteins: A1L1P7, A6ZND9, A6ZSH0, B0BN56, B3LIY9, B3LPE4, B5VQB0, C5DKM2, D3ZYW7, F4I9Q5, O14320, O35658, O35796, O35943, O49196, P37841, P42797, P42844, P49727, P51132, P51133, P51135, P82928, Q01607, Q04907, Q05B87, Q07021, Q08230, Q09759, Q0IH40, Q16595, Q1JPN0, Q2KI49, Q3T0B6, Q5REH5, Q84WZ8, Q8HXX9, Q8N5N7, Q8VZE7, Q94JS0

Diamond homologs: P82928, Q9CY16, Q9Y2Q9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS28	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 130 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 initiation	18	27.9×	2e-19
Mitochondrial translation elongation	18	27.9×	2e-19
Mitochondrial ribosome-associated quality control	18	27.0×	3e-19
Mitochondrial translation	16	26.9×	4e-17
Mitochondrial translation termination	18	24.1×	2e-18
Translation	18	13.6×	4e-14
mRNA Polyadenylation	10	10.7×	2e-06
Processing of Capped Intron-Containing Pre-mRNA	8	8.0×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	17	26.9×	3e-17
RNA processing	6	11.9×	2e-03
regulation of alternative mRNA splicing, via spliceosome	5	11.1×	6e-03
translation	10	9.3×	4e-05
mRNA processing	10	7.2×	3e-04
RNA splicing	8	6.4×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	54
Likely benign	16
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
973977	NM_014018.3(MRPS28):c.356A>G (p.Lys119Arg)	Pathogenic

SpliceAI

2730 predictions. Top by Δscore:

Variant	Effect	Δscore
12:27710951:CCTGC:C	donor_gain	1.0000
12:27710954:GC:G	donor_gain	1.0000
12:27710956:G:GG	donor_gain	1.0000
12:27714773:C:CA	acceptor_gain	1.0000
12:27714777:C:G	acceptor_gain	1.0000
12:27716289:A:AG	acceptor_gain	1.0000
12:27716289:AG:A	acceptor_gain	1.0000
12:27716290:G:GA	acceptor_gain	1.0000
12:27716290:GG:G	acceptor_gain	1.0000
12:27716290:GGC:G	acceptor_gain	1.0000
12:27716290:GGCA:G	acceptor_gain	1.0000
12:27716290:GGCAC:G	acceptor_gain	1.0000
12:27716457:AGG:A	donor_loss	1.0000
12:27716458:GGT:G	donor_loss	1.0000
12:27716459:G:GC	donor_loss	1.0000
12:27716459:G:GG	donor_gain	1.0000
12:27716460:T:G	donor_loss	1.0000
12:27719805:A:AG	acceptor_gain	1.0000
12:27719806:A:G	acceptor_gain	1.0000
12:27724039:A:AG	acceptor_gain	1.0000
12:27724042:CTCA:C	acceptor_loss	1.0000
12:27724043:TCAG:T	acceptor_loss	1.0000
12:27724045:A:AG	acceptor_gain	1.0000
12:27724045:AG:A	acceptor_loss	1.0000
12:27724046:G:GA	acceptor_gain	1.0000
12:27724046:GA:G	acceptor_gain	1.0000
12:27724046:GAT:G	acceptor_gain	1.0000
12:27724046:GATT:G	acceptor_gain	1.0000
12:27724046:GATTT:G	acceptor_gain	1.0000
12:27724173:T:TA	donor_gain	1.0000

AlphaMissense

1207 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:80003034:A:C	F120L	0.994
8:80003034:A:T	F120L	0.994
8:80003036:A:G	F120L	0.994
8:79919085:G:C	F153L	0.987
8:79919085:G:T	F153L	0.987
8:79919087:A:G	F153L	0.987
8:80003046:A:C	F116L	0.981
8:80003046:A:T	F116L	0.981
8:80003048:A:G	F116L	0.981
8:80003053:A:T	I114K	0.981
8:79919119:A:G	L142S	0.980
8:80003028:A:C	C122W	0.978
8:80003154:A:C	F80L	0.976
8:80003154:A:T	F80L	0.976
8:80003156:A:G	F80L	0.976
8:79919051:C:G	A165P	0.972
8:80003035:A:G	F120S	0.970
8:80003037:C:A	K119N	0.968
8:80003037:C:G	K119N	0.968
8:80003083:A:G	I104T	0.968
8:79919125:A:T	V140D	0.967
8:80003059:A:G	L112P	0.967
8:80003089:C:T	G102E	0.966
8:80003053:A:C	I114R	0.965
8:80003035:A:C	F120C	0.964
8:80003030:A:G	C122R	0.962
8:79919052:C:A	E164D	0.960
8:79919052:C:G	E164D	0.960
8:80003029:C:T	C122Y	0.960
8:79919044:G:T	A167E	0.958

dbSNP variants (sampled 300 via entrez): RS1000016614 (8:79921506 A>G), RS1000030716 (8:80003998 C>A), RS1000047104 (8:80006569 T>C), RS1000096182 (8:79919861 A>G), RS1000113992 (8:79977157 T>A), RS1000153799 (8:79931458 C>A), RS1000193242 (8:80000854 C>T), RS1000199547 (8:79979630 C>A,T), RS1000238107 (8:80017018 G>C), RS1000254669 (8:79950317 C>T), RS1000255740 (8:79957480 G>A,C,T), RS1000269377 (8:79935206 A>G), RS1000308625 (8:79924290 G>T), RS1000311560 (8:79957148 C>A,T), RS1000340643 (8:79934802 G>A)

Disease associations

OMIM: gene MIM:611990 | disease phenotypes: MIM:618958

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation deficiency 47	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Limited	AR

Mondo (1): combined oxidative phosphorylation deficiency 47 (MONDO:0033537)

Orphanet (0):

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000252	Microcephaly
HP:0000311	Round face
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000470	Short neck
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0000926	Platyspondyly
HP:0001290	Generalized hypotonia
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001770	Toe syndactyly
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0001944	Dehydration
HP:0002015	Dysphagia
HP:0002151	Increased circulating lactate concentration
HP:0002240	Hepatomegaly
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0004279	Short palm
HP:0010248	Cone-shaped epiphyses of the distal phalanges of the hand

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST006979_464	Heel bone mineral density	3.000000e-20
GCST007515_36	Type 2 diabetes	1.000000e-11
GCST007516_16	Type 2 diabetes (adjusted for BMI)	2.000000e-08
GCST009798_21	Asthma	6.000000e-22
GCST010796_4129	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067452 (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
6.57	Kd	271.2	nM	CHEMBL3752910
6.57	ED50	271.2	nM	CHEMBL3752910

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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149889: Binding affinity to human MRPS28 incubated for 45 mins by Kinobead based pull down assay	kd	0.2712	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
MT19c compound	increases expression	1
Decitabine	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Cannabidiol	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Dust	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Progesterone	decreases expression	1
Ribonucleotides	affects binding	1
Sarin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	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
CHEMBL5652931	Binding	Binding affinity to human MRPS28 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

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3BB	Abcam HEK293T MRPS28 KO	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.