MRPS2

Summary

MRPS2 (mitochondrial ribosomal protein S2, HGNC:14495) is a protein-coding gene on chromosome 9q34.3, encoding Small ribosomal subunit protein uS2m (Q9Y399). Required for mitoribosome formation and stability, and mitochondrial translation. It is a selective cancer dependency (DepMap: 43.1% 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 S2 family. Alternatively spliced transcript variants have been observed for this gene.

Source: NCBI Gene 51116 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined oxidative phosphorylation deficiency 36 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 63 total — 1 likely-pathogenic
• Phenotypes (HPO): 22
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 43.1% of screened cell lines
• MANE Select transcript: NM_016034

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14495
Approved symbol	MRPS2
Name	mitochondrial ribosomal protein S2
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	CGI-91, uS2m
Ensembl gene	ENSG00000122140
Ensembl biotype	protein_coding
OMIM	611971
Entrez	51116

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 nonsense_mediated_decay, 3 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000241600, ENST00000371785, ENST00000453385, ENST00000462948, ENST00000472852, ENST00000472946, ENST00000485333, ENST00000488610, ENST00000958536

RefSeq mRNA: 2 — MANE Select: NM_016034 NM_001371401, NM_016034

CCDS: CCDS6990

Canonical transcript exons

ENST00000241600 — 4 exons

Exon	Start	End
ENSE00000828362	135500682	135500753
ENSE00003498785	135500998	135501123
ENSE00003579038	135501844	135501973
ENSE00003963730	135503542	135504671

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 95.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 96.7180 / max 429.4954, expressed in 1815 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99437	95.0890	1815
99438	0.6965	419
99440	0.3478	174
99436	0.2723	118
99439	0.1942	70
99442	0.0481	13
99443	0.0315	5
99445	0.0205	4
99441	0.0181	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	95.59	gold quality
right adrenal gland	UBERON:0001233	94.98	gold quality
right adrenal gland cortex	UBERON:0035827	94.93	gold quality
mucosa of transverse colon	UBERON:0004991	94.86	gold quality
right lobe of liver	UBERON:0001114	94.69	gold quality
left adrenal gland	UBERON:0001234	94.68	gold quality
right uterine tube	UBERON:0001302	94.49	gold quality
gastrocnemius	UBERON:0001388	94.49	gold quality
left adrenal gland cortex	UBERON:0035825	94.38	gold quality
heart left ventricle	UBERON:0002084	93.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.69	gold quality
muscle of leg	UBERON:0001383	93.65	gold quality
cardiac ventricle	UBERON:0002082	93.56	gold quality
adrenal cortex	UBERON:0001235	93.48	gold quality
body of stomach	UBERON:0001161	93.19	gold quality
right atrium auricular region	UBERON:0006631	92.95	gold quality
adrenal gland	UBERON:0002369	92.80	gold quality
body of pancreas	UBERON:0001150	92.78	gold quality
transverse colon	UBERON:0001157	92.24	gold quality
left ovary	UBERON:0002119	92.06	gold quality
skin of abdomen	UBERON:0001416	91.87	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.80	gold quality
lower esophagus	UBERON:0013473	91.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.75	gold quality
metanephros cortex	UBERON:0010533	91.72	gold quality
stromal cell of endometrium	CL:0002255	91.65	gold quality
heart	UBERON:0000948	91.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.55	gold quality
skin of leg	UBERON:0001511	91.53	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.53	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	19.57
E-MTAB-6678	yes	10.15
E-ANND-3	yes	5.47

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 43.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• The identification of MRPS2 as an additional gene related to mitochondrial disease further expands the genetic and phenotypic spectra of Oxidative phosphorylation deficiencies caused by impaired mitochondrial translation. (PMID:29576219)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps2	ENSDARG00000103198
mus_musculus	Mrps2	ENSMUSG00000035772
rattus_norvegicus	Mrps2	ENSRNOG00000010164
drosophila_melanogaster	mRpS2	FBGN0031639
caenorhabditis_elegans		WBGENE00020718

Protein

Protein identifiers

Small ribosomal subunit protein uS2m — Q9Y399 (reviewed: Q9Y399)

Alternative names: 28S ribosomal protein S2, mitochondrial

All UniProt accessions (5): A0A8Q3SHQ1, A0A8Q3SHR3, A0A8Q3SHW9, A0A8Q3SHX8, Q9Y399

UniProt curated annotations — full annotation on UniProt →

Function. Required for mitoribosome formation and stability, and mitochondrial translation.

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 36 (COXPD36) [MIM:617950] An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the universal ribosomal protein uS2 family.

RefSeq proteins (2): NP_001358330, NP_057118* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001865	Ribosomal_uS2	Family
IPR005706	Ribosomal_uS2_bac/mit/plastid	Family
IPR018130	Ribosomal_uS2_CS	Conserved_site
IPR023591	Ribosomal_uS2_flav_dom_sf	Homologous_superfamily

Pfam: PF00318

UniProt features (34 total): helix 12, strand 11, sequence variant 6, turn 3, chain 1, region of interest 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-Q9Y399-F1	83.27	0.72

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-5368286	Mitochondrial translation initiation
R-HSA-5389840	Mitochondrial translation elongation
R-HSA-5419276	Mitochondrial translation termination
R-HSA-9837999	Mitochondrial protein degradation
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: 207 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_RIBOSOME_ASSEMBLY, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ORGANELLE_ASSEMBLY, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, MULLIGHAN_MLL_SIGNATURE_2_DN, GOCC_RIBOSOME, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX

GO Biological Process (3): mitochondrial translation (GO:0032543), mitochondrial ribosome assembly (GO:0061668), translation (GO:0006412)

GO Molecular Function (1): structural constituent of ribosome (GO:0003735)

GO Cellular Component (7): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), mitochondrial small ribosomal subunit (GO:0005763), ribosome (GO:0005840), small ribosomal subunit (GO:0015935), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Mitochondrial translation	4
Metabolism of proteins	2
Translation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	2
translation	1
mitochondrial gene expression	1
ribosome assembly	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
structural molecule activity	1
ribosome	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
intracellular organelle lumen	1
organellar small ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
intracellular membraneless organelle	1
ribosomal subunit	1
protein-containing complex	1

Protein interactions and networks

STRING

4628 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS2	MRPS16	Q9Y3D3	665
MRPS2	MRPS5	P82675	663
MRPS2	MRPS27	Q92552	654
MRPS2	MRPL12	P52815	643
MRPS2	MRPS25	P82663	627
MRPS2	MRPS14	O60783	615
MRPS2	MRPS34	P82930	614
MRPS2	MRPS11	P82912	588
MRPS2	MRPS7	Q9Y2R9	552
MRPS2	MRPL16	Q9NX20	551
MRPS2	MRPS22	P82650	542
MRPS2	MRPL1	Q9BYD6	524
MRPS2	MRPS10	P82664	505
MRPS2	MRPL43	Q8N983	496
MRPS2	MRPS6	P82932	493

IntAct

162 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
rep	MPHOSPH10	psi-mi:“MI:0914”(association)	0.660
ESR1	TRIM24	psi-mi:“MI:0914”(association)	0.640
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
MRPS6	STAT5A	psi-mi:“MI:0914”(association)	0.550
KLC2	KIF5B	psi-mi:“MI:0914”(association)	0.530
RPS6	IPO7	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
RPL6	MRPS14	psi-mi:“MI:0914”(association)	0.530
TRMT10B	MRPS14	psi-mi:“MI:0914”(association)	0.530
PRKCZ	IPO5	psi-mi:“MI:0914”(association)	0.530
MRPS18B	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
MRPL2	GTPBP10	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
MRPS26	MRPS10	psi-mi:“MI:0914”(association)	0.530
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
AURKAIP1	NRDC	psi-mi:“MI:0914”(association)	0.480
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480

BioGRID (382): MRPS2 (Affinity Capture-MS), MRPS2 (Affinity Capture-MS), MRPS2 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), PTCD3 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), TPD52 (Affinity Capture-MS), MRPS28 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), ERAL1 (Affinity Capture-MS), MRPS31 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS14 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS)

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: A1S4P0, A1USD9, A1W0G6, A1WX21, A4YVG6, A5EK55, A5FS79, A5FZ67, A5VQT3, A6Q585, A6U8K2, A6X0J1, A7H2J2, A7HY19, A7INR6, A8EXF0, A8F0I9, A8FMN8, A8GM32, A8GQP7, A8GUK1, A8I460, A8LK91, A9B458, A9GIN6, A9ISJ8, A9M5H4, A9W4G3, B0BW38, B0CGV9, B0K1P9, B0K9R6, B0SZ21, B0UCS0, B1LTQ8, B1ZLB5, B2I9U3, B2IGT0, B2S611, B3PYP2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS2	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 177 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	24	28.2×	4e-27
Mitochondrial translation initiation	26	28.2×	4e-29
Mitochondrial translation elongation	26	28.2×	4e-29
Mitochondrial ribosome-associated quality control	26	27.3×	8e-29
Mitochondrial translation termination	26	24.4×	1e-27
Translation	25	13.3×	1e-19
mRNA 3’-end processing	7	11.8×	1e-04
RNA Polymerase II Transcription Termination	5	9.4×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	27	31.1×	2e-30
translation	15	10.2×	1e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	25
Likely benign	21
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2504597	NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)	Likely pathogenic

SpliceAI

824 predictions. Top by Δscore:

Variant	Effect	Δscore
9:135501842:A:AG	acceptor_gain	1.0000
9:135501843:G:GG	acceptor_gain	1.0000
9:135501973:GGTA:G	donor_loss	1.0000
9:135501974:G:GG	donor_gain	1.0000
9:135501974:GTA:G	donor_loss	1.0000
9:135500112:G:GT	donor_gain	0.9900
9:135500171:GGGTT:G	donor_gain	0.9900
9:135500172:GGTT:G	donor_gain	0.9900
9:135500238:G:T	donor_gain	0.9900
9:135501121:CCGG:C	donor_loss	0.9900
9:135501125:T:A	donor_loss	0.9900
9:135501836:T:TA	acceptor_gain	0.9900
9:135501841:TA:T	acceptor_loss	0.9900
9:135501842:AGATT:A	acceptor_loss	0.9900
9:135501843:G:GA	acceptor_loss	0.9900
9:135503536:TGGCA:T	acceptor_loss	0.9900
9:135503537:GGCAG:G	acceptor_loss	0.9900
9:135503538:GCAGG:G	acceptor_loss	0.9900
9:135503539:CA:C	acceptor_loss	0.9900
9:135503540:A:AC	acceptor_loss	0.9900
9:135503541:G:A	acceptor_loss	0.9900
9:135500168:ACGGG:A	donor_gain	0.9800
9:135500202:C:T	donor_gain	0.9800
9:135500835:G:T	donor_gain	0.9800
9:135501124:G:GG	donor_gain	0.9800
9:135501839:C:A	acceptor_gain	0.9800
9:135503527:T:TA	acceptor_gain	0.9800
9:135503536:T:TA	acceptor_gain	0.9800
9:135503537:G:A	acceptor_gain	0.9800
9:135503541:GGTTT:G	acceptor_gain	0.9800

AlphaMissense

1949 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:135503616:T:C	L125P	0.992
9:135503916:C:T	T225I	0.992
9:135503913:A:T	D224V	0.991
9:135503718:C:A	A159D	0.990
9:135503876:G:C	A212P	0.989
9:135503904:G:A	G221D	0.988
9:135503678:A:C	S146R	0.987
9:135503680:C:A	S146R	0.987
9:135503680:C:G	S146R	0.987
9:135503817:T:C	L192P	0.987
9:135503877:C:A	A212E	0.987
9:135503949:T:A	V236E	0.987
9:135503903:G:C	G221R	0.986
9:135503955:G:A	G238D	0.986
9:135503625:C:A	A128D	0.985
9:135503942:T:G	Y234D	0.985
9:135503952:C:A	P237H	0.985
9:135503959:T:A	N239K	0.985
9:135503959:T:G	N239K	0.985
9:135503865:C:A	A208D	0.984
9:135501940:T:A	V89D	0.983
9:135501949:G:A	G92E	0.983
9:135503639:G:C	A133P	0.983
9:135503673:T:C	F144S	0.982
9:135501891:T:C	F73L	0.981
9:135501893:C:A	F73L	0.981
9:135501893:C:G	F73L	0.981
9:135503954:G:C	G238R	0.981
9:135503912:G:C	D224H	0.980
9:135503914:C:A	D224E	0.980

dbSNP variants (sampled 300 via entrez): RS1000085001 (9:135503322 A>G), RS1000684094 (9:135504340 A>G), RS1000785408 (9:135499272 G>A), RS1001620099 (9:135504025 G>A,C), RS1001673151 (9:135499651 C>T), RS1001704060 (9:135499190 C>T), RS1001817149 (9:135504232 T>A,C), RS1002053474 (9:135500003 C>A,G,T), RS1003176211 (9:135502401 G>A), RS1003567050 (9:135503165 G>C,T), RS1003920820 (9:135500090 G>A,T), RS1004067212 (9:135502809 C>T), RS1005568763 (9:135505043 GC>G,GCC), RS1006232056 (9:135501050 G>A), RS1006263169 (9:135501288 A>C)

Disease associations

OMIM: gene MIM:611971 | disease phenotypes: MIM:617950

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation deficiency 36	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Moderate	AR

Mondo (1): combined oxidative phosphorylation deficiency 36 (MONDO:0054781)

Orphanet (0):

HPO phenotypes

22 total (22 of 22 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000582	Upslanted palpebral fissure
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001508	Failure to thrive
HP:0001943	Hypoglycemia
HP:0002151	Increased circulating lactate concentration
HP:0002315	Headache
HP:0002465	Poor speech
HP:0003326	Myalgia
HP:0003348	Hyperalaninemia
HP:0003546	Exercise intolerance
HP:0003593	Infantile onset
HP:0007340	Lower limb muscle weakness
HP:0012072	Aciduria
HP:0020049	Exodeviation
HP:0031956	Elevated circulating aspartate aminotransferase concentration
HP:0031964	Elevated circulating alanine aminotransferase concentration
HP:0100678	Premature skin wrinkling

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066336 (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
5.31	Kd	4882	nM	CHEMBL3752910
5.31	ED50	4882	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	2149888: Binding affinity to human MRPS2 incubated for 45 mins by Kinobead based pull down assay	kd	4.8818	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
potassium chromate(VI)	affects cotreatment, increases expression	2
Tretinoin	decreases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	increases expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
afimoxifene	decreases reaction, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	decreases expression	1
bisphenol B	increases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Estrogens	increases expression, decreases reaction	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Thimerosal	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Cyclosporine	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
CHEMBL5652930	Binding	Binding affinity to human MRPS2 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.