MRPS16

Summary

MRPS16 (mitochondrial ribosomal protein S16, HGNC:14048) is a protein-coding gene on chromosome 10q22.2, encoding Small ribosomal subunit protein bS16m (Q9Y3D3). It is a selective cancer dependency (DepMap: 71.7% 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 S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described.

Source: NCBI Gene 51021 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined oxidative phosphorylation defect type 2 (Moderate, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 16 total — 1 pathogenic
• Phenotypes (HPO): 22
• Cancer dependency (DepMap): dependent in 71.7% of screened cell lines
• MANE Select transcript: NM_016065

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14048
Approved symbol	MRPS16
Name	mitochondrial ribosomal protein S16
Location	10q22.2
Locus type	gene with protein product
Status	Approved
Aliases	CGI-132, bS16m
Ensembl gene	ENSG00000182180
Ensembl biotype	protein_coding
OMIM	609204
Entrez	51021

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000372940, ENST00000372945, ENST00000471251, ENST00000473427, ENST00000479005, ENST00000918449, ENST00000918450

RefSeq mRNA: 2 — MANE Select: NM_016065 NM_001410935, NM_016065

CCDS: CCDS7323, CCDS91261

Canonical transcript exons

ENST00000372945 — 3 exons

Exon	Start	End
ENSE00003542421	73251763	73252023
ENSE00003647699	73248849	73250991
ENSE00003849027	73252470	73252644

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 96.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 81.0226 / max 403.4780, expressed in 1826 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110047	72.2431	1826
110046	6.9129	1684
110048	1.3343	959
110045	0.5322	276

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.49	gold quality
right adrenal gland	UBERON:0001233	96.16	gold quality
gastrocnemius	UBERON:0001388	95.97	gold quality
right adrenal gland cortex	UBERON:0035827	95.73	gold quality
left adrenal gland	UBERON:0001234	95.71	gold quality
muscle of leg	UBERON:0001383	95.53	gold quality
left adrenal gland cortex	UBERON:0035825	95.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.09	gold quality
heart left ventricle	UBERON:0002084	94.75	gold quality
rectum	UBERON:0001052	94.66	gold quality
adrenal cortex	UBERON:0001235	94.65	gold quality
right atrium auricular region	UBERON:0006631	94.65	gold quality
adrenal gland	UBERON:0002369	94.59	gold quality
cardiac ventricle	UBERON:0002082	94.50	gold quality
right uterine tube	UBERON:0001302	94.46	gold quality
right lobe of liver	UBERON:0001114	94.26	gold quality
apex of heart	UBERON:0002098	94.25	gold quality
islet of Langerhans	UBERON:0000006	94.19	gold quality
right testis	UBERON:0004534	94.15	gold quality
body of pancreas	UBERON:0001150	94.09	gold quality
esophagus mucosa	UBERON:0002469	94.05	gold quality
adrenal tissue	UBERON:0018303	93.99	gold quality
left testis	UBERON:0004533	93.98	gold quality
body of stomach	UBERON:0001161	93.79	gold quality
stromal cell of endometrium	CL:0002255	93.75	gold quality
transverse colon	UBERON:0001157	93.74	gold quality
esophagus	UBERON:0001043	93.62	gold quality
ventricular zone	UBERON:0003053	93.32	gold quality
lower esophagus	UBERON:0013473	93.30	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.30	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

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 71.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. (PMID:15505824)
• The effect of mutated MRPS16 on the assembly of the small and large ribosomal units in human mitochondria is reported. (PMID:18539099)
• Mutual effect of human ribosomal proteins S5 and S16 on their binding with 18S rRNA fragment 1203-1236/1521-1698 (PMID:19807034)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps16	ENSDARG00000098972
mus_musculus	Mrps16	ENSMUSG00000049960
rattus_norvegicus	Mrps16	ENSRNOG00000006898
drosophila_melanogaster	mRpS16	FBGN0033907
caenorhabditis_elegans		WBGENE00018961

Protein

Protein identifiers

Small ribosomal subunit protein bS16m — Q9Y3D3 (reviewed: Q9Y3D3)

Alternative names: 28S ribosomal protein S16, mitochondrial

All UniProt accessions (2): Q9Y3D3, A6ND22

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. bS16m has a zinc binding site.

Subcellular location. Mitochondrion.

Disease relevance. Combined oxidative phosphorylation deficiency 2 (COXPD2) [MIM:610498] A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the bacterial ribosomal protein bS16 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y3D3-1	1	yes
Q9Y3D3-2	2

RefSeq proteins (2): NP_001397864, NP_057149* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000307	Ribosomal_bS16	Family
IPR023803	Ribosomal_bS16_dom_sf	Homologous_superfamily

Pfam: PF00886

UniProt features (12 total): strand 4, helix 3, transit peptide 1, chain 1, modified residue 1, splice variant 1, sequence variant 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-Q9Y3D3-F1	90.79	0.81

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 (1): 130

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: 196 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, WONG_MITOCHONDRIA_GENE_MODULE, GOCC_RIBOSOME, NUYTTEN_EZH2_TARGETS_DN, 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 (2): 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), cytosol (GO:0005829), 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
cytoplasm	2
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
mitochondrion	1
translation	1
mitochondrial gene expression	1
structural molecule activity	1
ribosome	1
binding	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
cellular anatomical structure	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

3615 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS16	MRPS22	P82650	965
MRPS16	TSFM	P43897	923
MRPS16	TUFM	P49411	914
MRPS16	GFM1	Q96RP9	859
MRPS16	HOGA1	Q86XE5	812
MRPS16	MRPS5	P82675	702
MRPS16	MRPL12	P52815	693
MRPS16	MRPS9	P82933	676
MRPS16	MRPL44	Q9H9J2	668
MRPS16	MRPS2	Q9Y399	665
MRPS16	MRPS7	Q9Y2R9	627
MRPS16	MRPL36	Q9P0J6	627
MRPS16	MRPL11	Q9Y3B7	625
MRPS16	MRPS11	P82912	618
MRPS16	MRPS34	P82930	606

IntAct

99 interactions, top by confidence:

A	B	Type	Score
MRPS27	MRPS14	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
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
MRPS27	YBX1	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
COQ4	COQ5	psi-mi:“MI:0914”(association)	0.520
AURKAIP1	NRDC	psi-mi:“MI:0914”(association)	0.480
Naa50	WDR46	psi-mi:“MI:0914”(association)	0.350
	NAP1L1	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
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
DND1	RPSA2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ALYREF		psi-mi:“MI:0914”(association)	0.350
TCF7L2	LOC401309	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350

BioGRID (225): MRPS16 (Affinity Capture-MS), MRPS16 (Co-fractionation), MRPS16 (Co-fractionation), MRPS16 (Co-fractionation), MRPS16 (Co-fractionation), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS), MRPS16 (Affinity Capture-MS)

ESM2 similar proteins: A0A5F9D2E6, A1XQU3, O13784, O42387, O43395, O59865, P02377, P12001, P16149, P21533, P35980, P47911, P62847, P62848, P62849, P62850, P69090, P69091, P82915, Q2HJ41, Q2KIA6, Q2YDN6, Q2YGT9, Q3T0U2, Q4R5H5, Q56JU9, Q58DQ3, Q5E973, Q5EAV6, Q5R5F1, Q5RAQ8, Q5REY4, Q5XGS8, Q5ZJ85, Q6Y263, Q8LC83, Q90YQ0, Q90YU3, Q922U1, Q943Z6

Diamond homologs: A0KG23, A1B8V3, A1KSK1, A1S3Z0, A1SZY8, A3PN95, A4SIV7, A4TQ62, A4WNX7, A5G0H0, A5UAV1, A5UG06, A5V9P7, A6UE43, A6VLP8, A7FLQ7, A7HT06, A8F0A2, A8F2Z8, A8FSE7, A8GA18, A8GQA7, A8GU56, A8LMC0, A9HS66, A9IK34, A9M2D3, A9R0U5, B0BVP5, B0UVM6, B1JJ91, B1KI68, B2K5Y8, B3CPY0, B3PR16, B4EUW4, B4RIW5, B5ZTH8, B6IP92, B9JCL9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS16	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 118 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitochondrial ribosome-associated quality control	25	42.0×	1e-32
Mitochondrial translation initiation	24	41.7×	2e-31
Mitochondrial translation elongation	24	41.7×	2e-31
Mitochondrial translation	22	41.5×	8e-29
Mitochondrial translation termination	24	36.1×	6e-30
Translation	23	19.6×	3e-22

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	24	41.3×	4e-30
translation	12	12.2×	9e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	4
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
214677	NM_016065.3(MRPS16):c.275delG	Pathogenic

SpliceAI

617 predictions. Top by Δscore:

Variant	Effect	Δscore
10:73252468:A:AC	donor_gain	1.0000
10:73252469:C:CC	donor_gain	1.0000
10:73251820:T:TA	donor_gain	0.9900
10:73252420:C:CA	donor_gain	0.9900
10:73252469:CTGAG:C	donor_gain	0.9900
10:73251907:C:A	donor_gain	0.9800
10:73252461:ATGAC:A	donor_loss	0.9800
10:73252462:TGACT:T	donor_loss	0.9800
10:73252463:GAC:G	donor_loss	0.9800
10:73252464:ACTCA:A	donor_loss	0.9800
10:73252465:CT:C	donor_loss	0.9800
10:73252466:TCACT:T	donor_loss	0.9800
10:73252467:CA:C	donor_loss	0.9800
10:73252468:ACT:A	donor_loss	0.9800
10:73252469:CTG:C	donor_gain	0.9800
10:73252469:CTGA:C	donor_gain	0.9800
10:73252469:CT:C	donor_gain	0.9700
10:73252024:C:CC	acceptor_gain	0.9600
10:73252446:T:TA	donor_gain	0.9600
10:73251819:AT:A	donor_gain	0.9500
10:73252021:TAG:T	acceptor_gain	0.9400
10:73252023:GCTGT:G	acceptor_gain	0.9300
10:73252274:G:C	donor_gain	0.9200
10:73252362:T:TA	donor_gain	0.9200
10:73252020:GTAG:G	acceptor_gain	0.9100
10:73252022:AGC:A	acceptor_loss	0.9100
10:73252023:GCTG:G	acceptor_loss	0.9100
10:73252024:C:CA	acceptor_loss	0.9100
10:73252025:T:G	acceptor_loss	0.9100
10:73252042:T:TC	acceptor_gain	0.9100

AlphaMissense

885 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:73251944:G:C	F31L	0.992
10:73251944:G:T	F31L	0.992
10:73251946:A:G	F31L	0.992
10:73251930:G:T	A36D	0.989
10:73251883:C:G	G52R	0.988
10:73251882:C:A	G52V	0.985
10:73251840:A:T	V66D	0.984
10:73251882:C:T	G52D	0.984
10:73251763:C:G	G92R	0.983
10:73251951:C:G	R29P	0.983
10:73251981:A:G	I19T	0.982
10:73251981:A:T	I19N	0.982
10:73251936:A:T	I34N	0.981
10:73250991:C:T	G92D	0.979
10:73251822:C:A	R72M	0.978
10:73251909:C:A	R43M	0.978
10:73251963:C:T	G25D	0.978
10:73251883:C:A	G52C	0.976
10:73251981:A:C	I19S	0.975
10:73251786:G:A	S84F	0.973
10:73251821:C:A	R72S	0.971
10:73251821:C:G	R72S	0.971
10:73251943:A:C	Y32D	0.971
10:73251978:C:G	R20P	0.971
10:73251908:C:A	R43S	0.970
10:73251908:C:G	R43S	0.970
10:73251811:A:G	W76R	0.969
10:73251811:A:T	W76R	0.969
10:73251952:G:C	R29G	0.969
10:73251795:G:T	A81D	0.968

dbSNP variants (sampled 300 via entrez): RS1000131840 (10:73248891 A>G), RS1000231874 (10:73248522 T>C), RS1000622832 (10:73253065 T>C), RS1000941780 (10:73250270 C>T), RS1001211111 (10:73248877 A>G), RS1001325715 (10:73249287 A>C,T), RS1001767570 (10:73249580 A>G), RS1002216813 (10:73250348 C>T), RS1002295393 (10:73252188 A>G,T), RS1002332895 (10:73250622 T>C), RS1003337865 (10:73251938 G>T), RS1003601595 (10:73250992 C>G), RS1003935502 (10:73249404 A>G,T), RS1004664884 (10:73249638 A>C), RS1005214229 (10:73254344 T>A)

Disease associations

OMIM: gene MIM:609204 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation defect type 2	Moderate	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 defect type 2 (MONDO:0012510)

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:0000969	Edema
HP:0001156	Brachydactyly
HP:0001254	Lethargy
HP:0001274	Agenesis of corpus callosum
HP:0001319	Neonatal hypotonia
HP:0001518	Small for gestational age
HP:0001643	Patent ductus arteriosus
HP:0002151	Increased circulating lactate concentration
HP:0002375	Hypokinesia
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003128	Lactic acidosis
HP:0003577	Congenital onset
HP:0003811	Neonatal death
HP:0005989	Redundant neck skin
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0008872	Feeding difficulties in infancy
HP:0010952	Mild fetal ventriculomegaly
HP:0011923	Decreased activity of mitochondrial complex I
HP:0011924	Decreased activity of mitochondrial complex III
HP:0011925	Decreased activity of mitochondrial ATP synthase complex

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566468	Combined Oxidative Phosphorylation Deficiency 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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
bufotalin	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
ICG 001	increases expression	1
picoxystrobin	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	affects cotreatment, increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Valproic Acid	decreases expression, increases expression	1
Vincristine	decreases expression	1
Isotretinoin	decreases expression	1
Copper Sulfate	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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