MRPS7

Summary

MRPS7 (mitochondrial ribosomal protein S7, HGNC:14499) is a protein-coding gene on chromosome 17q25.1, encoding Small ribosomal subunit protein uS7m (Q9Y2R9). It is a selective cancer dependency (DepMap: 46.6% 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. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3’ domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p.

Source: NCBI Gene 51081 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined oxidative phosphorylation deficiency 34 (Moderate, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 113 total — 1 likely-pathogenic
• Phenotypes (HPO): 19
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 46.6% of screened cell lines
• MANE Select transcript: NM_015971

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14499
Approved symbol	MRPS7
Name	mitochondrial ribosomal protein S7
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	MRP-S, RP-S7, RPMS7, uS7m
Ensembl gene	ENSG00000125445
Ensembl biotype	protein_coding
OMIM	611974
Entrez	51081

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000245539, ENST00000577767, ENST00000579002, ENST00000579761, ENST00000581993, ENST00000583407, ENST00000584678, ENST00000886316, ENST00000886317, ENST00000912532, ENST00000912533, ENST00000941392

RefSeq mRNA: 1 — MANE Select: NM_015971 NM_015971

CCDS: CCDS11718

Canonical transcript exons

ENST00000245539 — 5 exons

Exon	Start	End
ENSE00000855702	75262497	75262688
ENSE00000949556	75265702	75266376
ENSE00003564655	75262804	75262867
ENSE00003685212	75263340	75263507
ENSE00003845870	75261879	75261983

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.4547 / max 242.5538, expressed in 1826 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162712	41.8670	1823
162711	7.0503	1722
162713	2.5373	940

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	97.62	gold quality
apex of heart	UBERON:0002098	97.58	gold quality
heart left ventricle	UBERON:0002084	97.54	gold quality
cardiac ventricle	UBERON:0002082	97.38	gold quality
muscle of leg	UBERON:0001383	97.33	gold quality
right atrium auricular region	UBERON:0006631	97.31	gold quality
mucosa of transverse colon	UBERON:0004991	97.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.95	gold quality
cardiac atrium	UBERON:0002081	96.75	gold quality
heart	UBERON:0000948	96.59	gold quality
muscle organ	UBERON:0001630	96.46	gold quality
skeletal muscle organ	UBERON:0014892	96.46	gold quality
right adrenal gland	UBERON:0001233	96.40	gold quality
right adrenal gland cortex	UBERON:0035827	96.15	gold quality
left adrenal gland	UBERON:0001234	96.13	gold quality
left adrenal gland cortex	UBERON:0035825	96.00	gold quality
esophagus mucosa	UBERON:0002469	95.34	gold quality
rectum	UBERON:0001052	95.30	gold quality
body of stomach	UBERON:0001161	95.29	gold quality
triceps brachii	UBERON:0001509	95.23	gold quality
transverse colon	UBERON:0001157	95.22	gold quality
right frontal lobe	UBERON:0002810	95.16	gold quality
right lobe of liver	UBERON:0001114	95.10	gold quality
lower esophagus mucosa	UBERON:0035834	95.09	gold quality
anterior cingulate cortex	UBERON:0009835	94.99	gold quality
esophagus	UBERON:0001043	94.98	gold quality
cingulate cortex	UBERON:0003027	94.93	gold quality
adrenal cortex	UBERON:0001235	94.92	gold quality
adrenal gland	UBERON:0002369	94.91	gold quality
lower esophagus	UBERON:0013473	94.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting MRPS7, 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-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-541-5P	98.24	67.77	1181
HSA-MIR-3159	97.94	66.79	1098
HSA-MIR-7106-3P	97.33	65.33	644
HSA-MIR-6849-3P	97.25	64.57	1371
HSA-MIR-514A-5P	96.94	65.49	801
HSA-MIR-6789-5P	94.05	66.19	285

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 46.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Study identified MRPS7 mutation as a novel cause of congenital sensorineural deafness and progressive hepatic and renal failure. (PMID:25556185)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps7	ENSDARG00000101622
mus_musculus	Mrps7	ENSMUSG00000046756
rattus_norvegicus	Mrps7	ENSRNOG00000003797
drosophila_melanogaster	mRpS7	FBGN0032236
caenorhabditis_elegans		WBGENE00013324

Paralogs (1): RPS5 (ENSG00000083845)

Protein

Protein identifiers

Small ribosomal subunit protein uS7m — Q9Y2R9 (reviewed: Q9Y2R9)

Alternative names: 28S ribosomal protein S7, mitochondrial, bMRP-27a

All UniProt accessions (6): Q9Y2R9, J3KSI8, J3KSV8, J3QKW2, J3QLS3, J3QQS1

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial small ribosomal subunit (mt-SSU), essential for mitochondrial protein synthesis. 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 34 (COXPD34) [MIM:617872] An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the universal ribosomal protein uS7 family.

RefSeq proteins (1): NP_057055* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000235	Ribosomal_uS7	Family
IPR023798	Ribosomal_uS7_dom	Domain
IPR036823	Ribosomal_uS7_dom_sf	Homologous_superfamily

Pfam: PF00177

UniProt features (21 total): helix 10, strand 3, modified residue 2, sequence variant 2, transit peptide 1, chain 1, sequence conflict 1, turn 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-Q9Y2R9-F1	87.29	0.74

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): 208, 228

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: 180 (showing top): GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, GOCC_MITOCHONDRIAL_ENVELOPE, NKX22_01, CREIGHTON_AKT1_SIGNALING_VIA_MTOR_DN, ACEVEDO_LIVER_CANCER_UP, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, GOCC_RIBOSOME, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE

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

GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), structural constituent of ribosome (GO:0003735), rRNA binding (GO:0019843)

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
RNA binding	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
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

4900 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS7	ABCC4	O15439	948
MRPS7	ABCC5	O15440	944
MRPS7	ABCC1	P33527	925
MRPS7	ABCG2	Q9UNQ0	813
MRPS7	ABCC6	P78420	804
MRPS7	ABCB1	P08183	776
MRPS7	ABCC3	O15438	769
MRPS7	ERAL1	O75616	741
MRPS7	MRPS18B	Q9Y676	720
MRPS7	MRPL12	P52815	693
MRPS7	MRPS18A	Q9NVS2	684
MRPS7	ABCC2	Q92887	678
MRPS7	PTCD3	Q96EY7	657
MRPS7	MRPS16	Q9Y3D3	627
MRPS7	SLCO1A2	P46721	623
MRPS7	MRPL41	Q8IXM3	623

IntAct

198 interactions, top by confidence:

A	B	Type	Score
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
IFI30	DAPK1	psi-mi:“MI:0914”(association)	0.730
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
RPS6	IPO7	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
ZBTB48	ZBTB24	psi-mi:“MI:0914”(association)	0.530
E4F1	ZBTB24	psi-mi:“MI:0914”(association)	0.530
IFI30	PRC1	psi-mi:“MI:0914”(association)	0.530
TRMT10B	MRPS14	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
SNRNP70	GTPBP1	psi-mi:“MI:0914”(association)	0.530
CCDC59	GAPDHS	psi-mi:“MI:0914”(association)	0.530
THAP3	CASC3	psi-mi:“MI:0914”(association)	0.530
PPAN	PPM1G	psi-mi:“MI:0914”(association)	0.530
MRPS34	ZZEF1	psi-mi:“MI:0914”(association)	0.530
ZFC3H1	HNRNPCL1	psi-mi:“MI:0914”(association)	0.530
ZNF408	LRP4	psi-mi:“MI:0914”(association)	0.530

BioGRID (446): MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), GFM1 (Co-fractionation), MRPS7 (Co-fractionation)

ESM2 similar proteins: A0JPA6, A1C9A5, A5PLG0, B4F7A1, B5DFN3, P0CB99, P0CC00, P23935, P56556, P82933, Q02366, Q0MQA1, Q0MQA2, Q0MQA3, Q0MQA4, Q0MQA5, Q0P574, Q16718, Q2M2S9, Q3SZ13, Q3T040, Q4IN52, Q4QQY2, Q4R5J1, Q4SQJ2, Q4WHK3, Q58DV5, Q5AX36, Q5BBH7, Q5I0K8, Q5REC3, Q5SPH9, Q5U5X0, Q5ZMU0, Q63362, Q6DCS1, Q6DDY9, Q6PBU7, Q6TUF2, Q8BQU3

Diamond homologs: A1USL0, A3DIZ8, A3PGJ3, A4WVL2, A4XI35, A5D5I6, A5ELN1, A5FZW8, A5IM79, A5V606, A5VR10, A6LLK9, A6U855, A6X0B4, A7HBL5, A7IFX7, A8F4Q7, A8IAT5, A9BHA9, A9H3R8, A9IW33, A9M5Q4, B0CH36, B0SUQ5, B0UHX3, B1LBP4, B2A4D5, B2IK58, B2S683, B3PW63, B3QBY4, B4R8L2, B4UB96, B5YG51, B5ZYT1, B6JES9, B7IHU2, B7J1V8, B8E1C9, B8ELG7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS7	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 228 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	16.4×	7e-15
Mitochondrial translation elongation	18	16.4×	7e-15
Transport of Mature Transcript to Cytoplasm	6	16.4×	7e-05
Mitochondrial ribosome-associated quality control	18	15.9×	8e-15
Mitochondrial translation	16	15.8×	3e-13
Mitochondrial translation termination	18	14.2×	5e-14
mRNA 3’-end processing	8	11.3×	3e-05
RNA Polymerase II Transcription Termination	6	9.5×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	19	16.4×	4e-15
ribosomal small subunit biogenesis	7	7.9×	6e-03
RNA processing	7	7.6×	6e-03
cytoplasmic translation	8	7.4×	3e-03
translation	14	7.2×	5e-06
negative regulation of translation	7	6.8×	9e-03
mRNA processing	12	4.7×	3e-03
mRNA splicing, via spliceosome	10	4.6×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	57
Likely benign	38
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1706435	NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)	Likely pathogenic

SpliceAI

1489 predictions. Top by Δscore:

Variant	Effect	Δscore
17:75261813:GACCC:G	donor_gain	1.0000
17:75262653:G:T	donor_gain	1.0000
17:75262684:ATCAG:A	donor_loss	1.0000
17:75262685:TCAG:T	donor_loss	1.0000
17:75262686:CAG:C	donor_loss	1.0000
17:75262687:AG:A	donor_loss	1.0000
17:75262688:GGT:G	donor_loss	1.0000
17:75262689:G:A	donor_loss	1.0000
17:75262690:T:A	donor_loss	1.0000
17:75262799:T:TA	acceptor_gain	1.0000
17:75262802:A:AG	acceptor_gain	1.0000
17:75262803:G:GA	acceptor_gain	1.0000
17:75262803:GTAA:G	acceptor_gain	1.0000
17:75263335:TGCA:T	acceptor_loss	1.0000
17:75263336:GCAG:G	acceptor_loss	1.0000
17:75263337:CAG:C	acceptor_loss	1.0000
17:75263338:A:AG	acceptor_gain	1.0000
17:75263338:AG:A	acceptor_loss	1.0000
17:75263339:G:GC	acceptor_gain	1.0000
17:75263339:GA:G	acceptor_gain	1.0000
17:75263339:GACT:G	acceptor_gain	1.0000
17:75263452:ACT:A	donor_gain	1.0000
17:75263455:G:GG	donor_gain	1.0000
17:75263490:G:GT	donor_gain	1.0000
17:75263491:G:T	donor_gain	1.0000
17:75265696:A:AG	acceptor_gain	1.0000
17:75265697:C:G	acceptor_gain	1.0000
17:75265699:CAGGT:C	acceptor_loss	1.0000
17:75265700:A:AC	acceptor_loss	1.0000
17:75265700:A:AG	acceptor_gain	1.0000

AlphaMissense

1581 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:75265735:T:C	F181L	0.939
17:75265737:C:A	F181L	0.939
17:75265737:C:G	F181L	0.939
17:75262808:T:C	F94L	0.927
17:75262810:C:A	F94L	0.927
17:75262810:C:G	F94L	0.927
17:75265750:T:A	W186R	0.895
17:75265750:T:C	W186R	0.895
17:75262669:T:C	F86L	0.893
17:75262671:T:A	F86L	0.893
17:75262671:T:G	F86L	0.893
17:75263356:A:T	K119I	0.884
17:75263357:A:C	K119N	0.882
17:75263357:A:T	K119N	0.882
17:75262534:T:C	F41L	0.881
17:75262536:C:A	F41L	0.881
17:75262536:C:G	F41L	0.881
17:75265831:T:C	F213L	0.871
17:75265833:C:A	F213L	0.871
17:75265833:C:G	F213L	0.871
17:75262638:A:C	K75N	0.865
17:75262638:A:T	K75N	0.865
17:75262825:G:A	M99I	0.865
17:75262825:G:C	M99I	0.865
17:75262825:G:T	M99I	0.865
17:75263442:G:C	A148P	0.849
17:75265752:G:C	W186C	0.848
17:75265752:G:T	W186C	0.848
17:75262848:C:A	A107D	0.837
17:75262840:A:C	K104N	0.836

dbSNP variants (sampled 300 via entrez): RS1000003367 (17:75260882 A>C,G), RS1000611101 (17:75264928 A>G), RS1001235983 (17:75261650 C>G,T), RS1001383684 (17:75265209 T>G), RS1001844260 (17:75260206 T>A), RS1002337168 (17:75264397 G>T), RS1002941275 (17:75262879 T>C,G), RS1003350254 (17:75263081 A>G), RS1003443738 (17:75265401 C>G), RS1003977020 (17:75260573 T>C), RS1004452717 (17:75261383 G>C), RS1004522913 (17:75262747 G>T), RS1005105297 (17:75259909 T>C), RS1005791001 (17:75261484 T>G), RS1005872546 (17:75264213 A>G)

Disease associations

OMIM: gene MIM:611974 | disease phenotypes: MIM:617872

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation deficiency 34	Moderate	Autosomal recessive
syndromic sensorineural deafness due to combined oxidative phosphorylation defect	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Limited	AR

Mondo (4): combined oxidative phosphorylation deficiency 34 (MONDO:0054741), premature menopause (MONDO:0001119), sensorineural hearing loss disorder (MONDO:0020678), (MONDO:0018706)

Orphanet (1): Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (Orphanet:457223)

HPO phenotypes

19 total (20 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000815	Hypergonadotropic hypogonadism
HP:0001397	Hepatic steatosis
HP:0001399	Hepatic failure
HP:0001508	Failure to thrive
HP:0001876	Pancytopenia
HP:0001943	Hypoglycemia
HP:0001945	Fever
HP:0002013	Vomiting
HP:0002151	Increased circulating lactate concentration
HP:0002240	Hepatomegaly
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
HP:0003128	Lactic acidosis
HP:0003138	Increased blood urea nitrogen
HP:0003259	Elevated circulating creatinine concentration
HP:0003593	Infantile onset
HP:0008207	Primary adrenal insufficiency
HP:0008527	Congenital sensorineural hearing impairment
HP:0011463	Childhood onset
HP:0000407	Sensorineural hearing impairment

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008594	Menopause, Premature	C12.050.351.500.056.630.250; C12.100.250.056.630.250; G08.686.157.500.500; G08.686.841.249.500.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295986 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.14	Kd	7184	nM	CHEMBL3752910
5.14	ED50	7184	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 6 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	2148781: Binding affinity to human MRPS7 incubated for 45 mins by Kinobead based pull down assay	kd	7.1840	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects cotreatment, decreases expression	2
TAK-243	increases sumoylation	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
bisphenol A	decreases expression	1
o,p’-DDT	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
cyclic 3’,5’-uridine monophosphate	affects binding	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
ICG 001	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	increases abundance, increases oxidation, affects cotreatment	1
Atrazine	decreases expression	1
Cycloheximide	decreases expression, affects cotreatment, affects expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Ozone	increases abundance, affects cotreatment, increases oxidation	1
Plant Extracts	decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, affects expression, decreases expression	1
Dronabinol	decreases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118686	Binding	Binding affinity to MRPS7 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1XL	Abcam HeLa MRPS7 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT01655212	PHASE3	TERMINATED	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial
NCT02005822	PHASE3	COMPLETED	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment
NCT03374514	PHASE3	UNKNOWN	Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02497690	PHASE2	COMPLETED	Effectiveness of Therapy Via Telemedicine Following Cochlear Implants
NCT03107871	PHASE2	ACTIVE_NOT_RECRUITING	Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants
NCT04120116	PHASE2	COMPLETED	FX-322 in Adults With Stable Sensorineural Hearing Loss
NCT05061758	PHASE2	WITHDRAWN	A Trial of LY3056480 in Patients With SNLH
NCT07364747	PHASE2	RECRUITING	Protective Effect of Acetylcysteine Against Cisplatinum-Induced Ototoxicity: A Randomized Controlled Trial
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency