MRPS23

Summary

MRPS23 (mitochondrial ribosomal protein S23, HGNC:14509) is a protein-coding gene on chromosome 17q22, encoding Small ribosomal subunit protein mS23 (Q9Y3D9). It is a selective cancer dependency (DepMap: 84.6% 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. A pseudogene corresponding to this gene is found on chromosome 7p.

Source: NCBI Gene 51649 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined oxidative phosphorylation deficiency 45 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 87 total — 1 pathogenic
• Phenotypes (HPO): 4
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 84.6% of screened cell lines
• MANE Select transcript: NM_016070

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14509
Approved symbol	MRPS23
Name	mitochondrial ribosomal protein S23
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	MRP-S23, CGI-138, HSPC329, mS23
Ensembl gene	ENSG00000181610
Ensembl biotype	protein_coding
OMIM	611985
Entrez	51649

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000313608, ENST00000578444, ENST00000579380, ENST00000579768, ENST00000916566, ENST00000916567, ENST00000916568

RefSeq mRNA: 1 — MANE Select: NM_016070 NM_016070

CCDS: CCDS11598

Canonical transcript exons

ENST00000313608 — 5 exons

Exon	Start	End
ENSE00001232355	57840926	57841052
ENSE00001232385	57834781	57839935
ENSE00001232406	57849967	57850044
ENSE00003553527	57849240	57849410
ENSE00003568333	57841183	57841260

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 97.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 77.0046 / max 390.3517, expressed in 1824 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167142	76.9872	1824
167141	0.0173	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	97.07	gold quality
heart left ventricle	UBERON:0002084	96.05	gold quality
cardiac ventricle	UBERON:0002082	95.89	gold quality
heart right ventricle	UBERON:0002080	95.10	gold quality
islet of Langerhans	UBERON:0000006	95.00	gold quality
myocardium	UBERON:0002349	94.70	gold quality
heart	UBERON:0000948	94.55	gold quality
right atrium auricular region	UBERON:0006631	94.15	gold quality
cardiac atrium	UBERON:0002081	93.84	gold quality
gastrocnemius	UBERON:0001388	93.79	gold quality
muscle of leg	UBERON:0001383	93.68	gold quality
prefrontal cortex	UBERON:0000451	93.63	gold quality
calcaneal tendon	UBERON:0003701	93.59	gold quality
right adrenal gland	UBERON:0001233	93.29	gold quality
skeletal muscle organ	UBERON:0014892	93.07	gold quality
tendon	UBERON:0000043	92.99	gold quality
right adrenal gland cortex	UBERON:0035827	92.90	gold quality
left adrenal gland	UBERON:0001234	92.84	gold quality
body of stomach	UBERON:0001161	92.82	gold quality
left adrenal gland cortex	UBERON:0035825	92.34	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.22	gold quality
cortical plate	UBERON:0005343	92.11	gold quality
apex of heart	UBERON:0002098	92.08	gold quality
adult mammalian kidney	UBERON:0000082	92.05	gold quality
deltoid	UBERON:0001476	91.87	gold quality
monocyte	CL:0000576	91.84	gold quality
adrenal gland	UBERON:0002369	91.74	gold quality
corpus epididymis	UBERON:0004359	91.68	gold quality
leukocyte	CL:0000738	91.62	gold quality
biceps brachii	UBERON:0001507	91.47	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-4850	no	399.43
E-GEOD-110499	no	144.87
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting MRPS23, 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-574-5P	100.00	66.01	989
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-7849-3P	99.47	68.17	1224
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-940	99.37	66.14	2064

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 84.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• MRPS23 amplification and gene expression in breast cancer; association with proliferation and the non-basal subtypes. (PMID:31950385)
• Arginine and lysine methylation of MRPS23 promotes breast cancer metastasis through regulating OXPHOS. (PMID:33927350)
• Mitochondrial ribosomal small subunit proteins (MRPS) MRPS6 and MRPS23 show dysregulation in breast cancer affecting tumorigenic cellular processes. (PMID:33964376)
• Mitochondrial ribosomal small subunit (MRPS) MRPS23 protein-protein interaction reveals phosphorylation by CDK11-p58 affecting cell proliferation and knockdown of MRPS23 sensitizes breast cancer cells to CDK1 inhibitors. (PMID:35962848)
• Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder. (PMID:38086984)
• MRPS23 is a novel prognostic biomarker and promotes glioma progression. (PMID:38301044)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps23	ENSDARG00000033973
mus_musculus	Mrps23	ENSMUSG00000023723
rattus_norvegicus	Mrps23	ENSRNOG00000010363
drosophila_melanogaster	mRpS23	FBGN0260407
caenorhabditis_elegans		WBGENE00014224

Protein

Protein identifiers

Small ribosomal subunit protein mS23 — Q9Y3D9 (reviewed: Q9Y3D9)

Alternative names: 28S ribosomal protein S23, mitochondrial

All UniProt accessions (3): Q9Y3D9, J3QLC1, J3QLR8

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 46 (COXPD46) [MIM:618952] An autosomal recessive disorder characterized by childhood-onset mitochondrial respiratory chain complex deficiencies, particularly complexes I and IV, and hepatic disease. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the mitochondrion-specific ribosomal protein mS23 family.

RefSeq proteins (1): NP_057154* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019520	Ribosomal_mS23_met	Family
IPR023611	mS23_dom_met	Domain
IPR059242	mS23_dom	Domain

Pfam: PF10484

UniProt features (15 total): helix 5, strand 2, modified residue 2, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

76 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
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
9HFM	ELECTRON MICROSCOPY	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3D9-F1	78.21	0.61

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): 2, 102

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: 131 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_MITOCHONDRIAL_TRANSLATION, MEF2_02, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GGAANCGGAANY_UNKNOWN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, TGANTCA_AP1_C, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, PIT1_Q6, ACEVEDO_LIVER_CANCER_UP, CTAWWWATA_RSRFC4_Q2

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

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), nuclear membrane (GO:0031965), 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
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
nucleic acid binding	1
structural molecule activity	1
ribosome	1
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
nucleus	1
nuclear envelope	1
organelle membrane	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

1620 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS23	MRPL12	P52815	642
MRPS23	MRPL11	Q9Y3B7	637
MRPS23	MRPL13	Q9BYD1	621
MRPS23	MRPL41	Q8IXM3	606
MRPS23	MRPL37	Q9BZE1	572
MRPS23	MRPS9	P82933	560
MRPS23	NAXE	Q8NCW5	541
MRPS23	MRPS14	O60783	515
MRPS23	GRPEL1	Q9HAV7	492
MRPS23	MRPS7	Q9Y2R9	488
MRPS23	MRPS30	Q9NP92	482
MRPS23	MRPS34	P82930	450
MRPS23	MRPS5	P82675	447
MRPS23	DCAF13	Q9NV06	446
MRPS23	MRPS25	P82663	444

IntAct

222 interactions, top by confidence:

A	B	Type	Score
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
MRPS27	MRPS14	psi-mi:“MI:0914”(association)	0.640
MRPS23	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
USHBP1	MRPS23	psi-mi:“MI:0915”(physical association)	0.560
GSC2	MRPS23	psi-mi:“MI:0915”(physical association)	0.560
POLR1C	MRPS23	psi-mi:“MI:0915”(physical association)	0.560
TEFM	POLRMT	psi-mi:“MI:0914”(association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
ZNF324B	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF331	USP9Y	psi-mi:“MI:0914”(association)	0.530
E4F1	ZBTB24	psi-mi:“MI:0914”(association)	0.530
MRPS15	MRPS14	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
MRPS34	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPS18C	MRPS14	psi-mi:“MI:0914”(association)	0.530
HNRNPA1	PTCD1	psi-mi:“MI:0914”(association)	0.530
IGF2BP3	PTCD1	psi-mi:“MI:0914”(association)	0.530
NOA1	ATE1	psi-mi:“MI:0914”(association)	0.530
TFB1M	HSPD1	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
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480

BioGRID (390): USHBP1 (Two-hybrid), MRPS23 (Affinity Capture-RNA), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), MRPS23 (Two-hybrid), MRPS23 (Co-fractionation)

ESM2 similar proteins: A6ZZ82, B3LFH4, B5DFN3, C0NZ35, C5FGP0, C5GY53, C5K1L1, C6H5G5, C7GKT0, C8Z651, F1Q930, O09111, O75182, O76024, P56695, P82649, P82650, P83565, Q03429, Q0MQJ3, Q0MQJ4, Q0MQJ5, Q0VFC7, Q29259, Q2NL27, Q3SZ13, Q3ZBC2, Q5R4W7, Q5TC12, Q5ZKP2, Q66JD1, Q6AYQ6, Q6DGL8, Q6DGP7, Q6DQX6, Q6PBU7, Q811I0, Q8HXG5, Q8VE22, Q96Q45

Diamond homologs: P34748, Q2NL27, Q8VE22, Q9Y3D9, A3LYR9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS23	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 203 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitochondrial translation	21	22.1×	3e-20
Mitochondrial translation initiation	21	20.3×	6e-20
Mitochondrial translation elongation	21	20.3×	6e-20
Mitochondrial ribosome-associated quality control	21	19.7×	1e-19
Mitochondrial translation termination	21	17.6×	1e-18
Translation	25	11.8×	3e-18
rRNA modification in the nucleus and cytosol	6	8.6×	5e-03
Signaling by ROBO receptors	7	6.6×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	23	21.6×	1e-21
translation	18	10.0×	1e-10
ribosomal small subunit biogenesis	7	8.6×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	39
Likely benign	32
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
973976	NM_016070.4(MRPS23):c.119C>G (p.Pro40Arg)	Pathogenic

SpliceAI

1083 predictions. Top by Δscore:

Variant	Effect	Δscore
17:57840918:ATACT:A	donor_loss	1.0000
17:57840920:ACTC:A	donor_loss	1.0000
17:57840922:TCA:T	donor_loss	1.0000
17:57840924:A:AC	donor_gain	1.0000
17:57840924:ACAGT:A	donor_gain	1.0000
17:57840925:C:CA	donor_gain	1.0000
17:57840925:CA:C	donor_gain	1.0000
17:57840925:CAG:C	donor_gain	1.0000
17:57840925:CAGT:C	donor_gain	1.0000
17:57840925:CAGTC:C	donor_gain	1.0000
17:57840980:C:A	donor_gain	1.0000
17:57841048:CAAAC:C	acceptor_gain	1.0000
17:57841049:AAACC:A	acceptor_loss	1.0000
17:57841050:AACCT:A	acceptor_loss	1.0000
17:57841051:AC:A	acceptor_gain	1.0000
17:57841051:ACCTG:A	acceptor_loss	1.0000
17:57841052:CC:C	acceptor_gain	1.0000
17:57841053:C:CA	acceptor_loss	1.0000
17:57841053:C:CC	acceptor_gain	1.0000
17:57841054:T:A	acceptor_loss	1.0000
17:57849190:C:A	donor_gain	1.0000
17:57849238:A:AC	donor_gain	1.0000
17:57849239:C:CC	donor_gain	1.0000
17:57849239:CG:C	donor_gain	1.0000
17:57849239:CGCT:C	donor_gain	1.0000
17:57849410:CCT:C	acceptor_gain	1.0000
17:57849412:T:C	acceptor_gain	1.0000
17:57839729:A:C	donor_gain	0.9900
17:57839937:T:TC	acceptor_gain	0.9900
17:57839946:C:CT	acceptor_gain	0.9900

AlphaMissense

1221 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:57849364:A:G	W31R	0.995
17:57849364:A:T	W31R	0.995
17:57841254:A:C	F74L	0.986
17:57841254:A:T	F74L	0.986
17:57841256:A:G	F74L	0.986
17:57841049:A:C	F99L	0.984
17:57841049:A:T	F99L	0.984
17:57841051:A:G	F99L	0.984
17:57849362:C:A	W31C	0.981
17:57849362:C:G	W31C	0.981
17:57849967:C:G	R15P	0.980
17:57849242:T:A	R71S	0.979
17:57849242:T:G	R71S	0.979
17:57849253:C:G	D68H	0.978
17:57841050:A:G	F99S	0.973
17:57849252:T:G	D68A	0.970
17:57849341:A:C	F38L	0.968
17:57849341:A:T	F38L	0.968
17:57849343:A:G	F38L	0.968
17:57841255:A:G	F74S	0.967
17:57841190:A:G	C96R	0.965
17:57841029:A:G	L106P	0.964
17:57849252:T:A	D68V	0.964
17:57849251:A:C	D68E	0.962
17:57849251:A:T	D68E	0.962
17:57849363:C:G	W31S	0.958
17:57840951:A:G	L132S	0.957
17:57849243:C:G	R71T	0.954
17:57840976:C:G	A124P	0.948
17:57849241:C:G	A72P	0.948

dbSNP variants (sampled 300 via entrez): RS1000103899 (17:57838411 C>A,G), RS1000354932 (17:57848886 G>C), RS1000599518 (17:57843299 C>A,T), RS1000632510 (17:57844513 A>T), RS1000788135 (17:57850168 G>A,C), RS1000904696 (17:57850368 G>C), RS1001129779 (17:57836842 A>G), RS1001301616 (17:57835781 T>C), RS1001410026 (17:57839036 T>C,G), RS1001498970 (17:57837134 C>T), RS1001586014 (17:57836180 C>A), RS1001630785 (17:57847508 A>G), RS1001806883 (17:57847762 T>A,G), RS1001941179 (17:57837483 T>C), RS1001966487 (17:57850690 C>G)

Disease associations

OMIM: gene MIM:611985 | disease phenotypes: MIM:618952

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation deficiency 45	Strong	Autosomal recessive
combined oxidative phosphorylation deficiency 46	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 (2): combined oxidative phosphorylation deficiency 46 (MONDO:0033534), combined oxidative phosphorylation deficiency 45 (MONDO:0033533)

Orphanet (0):

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001410	Decreased liver function
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0011923	Decreased activity of mitochondrial complex I

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004227_14	Obstetric antiphospholipid syndrome	3.000000e-06
GCST012145_8	Ferritin levels	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004459	ferritin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295990 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
bisphenol A	decreases expression	2
Acetaminophen	affects cotreatment, decreases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression	1
arsenite	affects binding, increases reaction	1
manganese chloride	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
abrine	decreases 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, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Cadmium	increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Manganese	increases expression, increases abundance	1
Plant Extracts	increases expression, affects cotreatment	1
Ribonucleotides	affects binding	1
Urethane	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4119018	Binding	Binding affinity to MRPS23 in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Clinical trials (associated diseases)

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