MRPL40

Summary

MRPL40 (mitochondrial ribosomal protein L40, HGNC:14491) is a protein-coding gene on chromosome 22q11.21, encoding Large ribosomal subunit protein mL40 (Q9NQ50). It is a selective cancer dependency (DepMap: 21.9% 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 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome.

Source: NCBI Gene 64976 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 61 total — 5 pathogenic
• Cancer dependency (DepMap): dependent in 21.9% of screened cell lines
• MANE Select transcript: NM_003776

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14491
Approved symbol	MRPL40
Name	mitochondrial ribosomal protein L40
Location	22q11.21
Locus type	gene with protein product
Status	Approved
Aliases	MRP-L22, mL40
Ensembl gene	ENSG00000185608
Ensembl biotype	protein_coding
OMIM	605089
Entrez	64976

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000333130, ENST00000443660, ENST00000471259, ENST00000926344

RefSeq mRNA: 2 — MANE Select: NM_003776 NM_001318151, NM_003776

CCDS: CCDS13760

Canonical transcript exons

ENST00000333130 — 4 exons

Exon	Start	End
ENSE00001294358	19435638	19436075
ENSE00001311893	19432545	19432607
ENSE00003466682	19433265	19433348
ENSE00003708122	19434736	19434894

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 96.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.8200 / max 686.9537, expressed in 1824 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191046	44.9427	1818
191044	3.3103	1488
191045	0.8671	513
191043	0.6999	421

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.97	gold quality
biceps brachii	UBERON:0001507	96.23	gold quality
heart right ventricle	UBERON:0002080	96.14	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.13	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.96	gold quality
gastrocnemius	UBERON:0001388	95.87	gold quality
triceps brachii	UBERON:0001509	95.85	gold quality
body of tongue	UBERON:0011876	95.82	gold quality
vastus lateralis	UBERON:0001379	95.78	gold quality
skeletal muscle tissue	UBERON:0001134	95.73	gold quality
quadriceps femoris	UBERON:0001377	95.73	gold quality
muscle organ	UBERON:0001630	95.67	gold quality
muscle of leg	UBERON:0001383	95.62	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.59	gold quality
diaphragm	UBERON:0001103	95.28	gold quality
epithelium of bronchus	UBERON:0002031	95.24	gold quality
deltoid	UBERON:0001476	95.19	gold quality
bronchus	UBERON:0002185	95.14	gold quality
apex of heart	UBERON:0002098	95.10	gold quality
bronchial epithelial cell	CL:0002328	95.08	gold quality
parotid gland	UBERON:0001831	95.07	gold quality
cardiac ventricle	UBERON:0002082	94.66	gold quality
heart left ventricle	UBERON:0002084	94.61	gold quality
gluteal muscle	UBERON:0002000	94.58	gold quality
muscle tissue	UBERON:0002385	94.52	gold quality
right adrenal gland	UBERON:0001233	94.35	gold quality
right lobe of liver	UBERON:0001114	94.14	gold quality
right lobe of thyroid gland	UBERON:0001119	94.12	gold quality
left lobe of thyroid gland	UBERON:0001120	94.07	gold quality
tongue	UBERON:0001723	94.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.01
E-MTAB-6379	no	711.94
E-MTAB-6142	no	227.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting MRPL40, 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-486-3P	99.51	66.82	1901
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-4771	97.43	67.69	596

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 21.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia. (PMID:31740674)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrpl40	ENSDARG00000043554
mus_musculus	Mrpl40	ENSMUSG00000022706
rattus_norvegicus	Mrpl40	ENSRNOG00000049686
drosophila_melanogaster	mRpL40	FBGN0037892
caenorhabditis_elegans		WBGENE00018793

Protein

Protein identifiers

Large ribosomal subunit protein mL40 — Q9NQ50 (reviewed: Q9NQ50)

Alternative names: 39S ribosomal protein L40, mitochondrial, Nuclear localization signal-containing protein deleted in velocardiofacial syndrome, Up-regulated in metastasis

All UniProt accessions (1): Q9NQ50

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). 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. mL40 binds to the major groove of the anticodon stem of mt-tRNA(Val) in the central protuberance.

Subcellular location. Mitochondrion.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the mitochondrion-specific ribosomal protein mL40 family.

RefSeq proteins (2): NP_001305080, NP_003767* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019192	Ribosomal_mL40	Family
IPR039145	Ribosomal_mL40_metazoa/plant	Family

Pfam: PF09812

UniProt features (11 total): strand 2, sequence variant 2, turn 2, helix 2, transit peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

82 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7OF0	ELECTRON MICROSCOPY	2.2
7QI4	ELECTRON MICROSCOPY	2.21
8RRI	ELECTRON MICROSCOPY	2.4
8QU5	ELECTRON MICROSCOPY	2.42
9OLF	ELECTRON MICROSCOPY	2.46
7OF7	ELECTRON MICROSCOPY	2.5
7PO4	ELECTRON MICROSCOPY	2.56
6ZM6	ELECTRON MICROSCOPY	2.59
7O9M	ELECTRON MICROSCOPY	2.6
7OF6	ELECTRON MICROSCOPY	2.6
9CN3	ELECTRON MICROSCOPY	2.62
7QI5	ELECTRON MICROSCOPY	2.63
7OF2	ELECTRON MICROSCOPY	2.7
7OF3	ELECTRON MICROSCOPY	2.7
7OF4	ELECTRON MICROSCOPY	2.7
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
8ANY	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7ODR	ELECTRON MICROSCOPY	2.9
7OF5	ELECTRON MICROSCOPY	2.9
8K2A	ELECTRON MICROSCOPY	2.9
8OIT	ELECTRON MICROSCOPY	2.9
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98
9PSM	ELECTRON MICROSCOPY	2.98
8QSJ	ELECTRON MICROSCOPY	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQ50-F1	79.11	0.42

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: 189 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, RNGTGGGC_UNKNOWN, E2F_Q4, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, E2F4DP1_01, LFA1_Q6, GCANCTGNY_MYOD_Q6, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, AP2_Q3, GOBP_TRANSLATION, E2F1DP1_01

GO Biological Process (2): anatomical structure morphogenesis (GO:0009653), mitochondrial translation (GO:0032543)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), nucleolus (GO:0005730), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), 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
intracellular membrane-bounded organelle	2
intracellular membraneless organelle	2
developmental process	1
anatomical structure development	1
mitochondrion	1
translation	1
mitochondrial gene expression	1
nucleic acid binding	1
binding	1
nuclear lumen	1
cytoplasm	1
organelle inner membrane	1
mitochondrial membrane	1
organellar ribosome	1
mitochondrial matrix	1
organellar large ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
protein-containing complex	1

Protein interactions and networks

STRING

2010 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPL40	SLC25A1	P53007	820
MRPL40	TANGO2	Q6ICL3	761
MRPL40	ZDHHC8	Q9ULC8	725
MRPL40	PRODH	O43272	681
MRPL40	PRODH	O43272	663
MRPL40	UFD1	Q92890	657
MRPL40	TXNRD2	Q9NNW7	626
MRPL40	DGCR2	P98153	609
MRPL40	MRPL46	Q9H2W6	593
MRPL40	MRPL45	Q9BRJ2	578
MRPL40	DAP3	P51398	566
MRPL40	MRPS10	P82664	550
MRPL40	MRPL53	Q96EL3	548
MRPL40	MRPL48	Q96GC5	540
MRPL40	MRPL1	Q9BYD6	538

IntAct

159 interactions, top by confidence:

A	B	Type	Score
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
MRPL37	HSPD1	psi-mi:“MI:0914”(association)	0.710
USP44	CETN2	psi-mi:“MI:0914”(association)	0.690
COQ8A	COQ9	psi-mi:“MI:0914”(association)	0.670
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
STK3	MAP1B	psi-mi:“MI:0914”(association)	0.640
	MRPL40	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	MRPL40	psi-mi:“MI:0915”(physical association)	0.560
TFCP2	MRPL40	psi-mi:“MI:0915”(physical association)	0.560
KRT31	MRPL40	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	MRPL40	psi-mi:“MI:0915”(physical association)	0.560
MRPL40		psi-mi:“MI:0915”(physical association)	0.560
MRPL40	KRT31	psi-mi:“MI:0915”(physical association)	0.560
MRPL40	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	MRPL40	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	MRPL40	psi-mi:“MI:0915”(physical association)	0.560
KRTAP3-1	MRPL40	psi-mi:“MI:0915”(physical association)	0.560
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL46	NDUFAB1	psi-mi:“MI:0914”(association)	0.530
MRPL10	ZZEF1	psi-mi:“MI:0914”(association)	0.530

BioGRID (224): MRPL40 (Two-hybrid), MRPL40 (Two-hybrid), MRPL40 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVH7, A0A4X1TZW7, A0A5F8MPE6, E1B836, E1C760, E7EXT2, F7AEX0, O74370, O95391, P21374, P51950, Q20716, Q24276, Q24740, Q28E45, Q2F5J3, Q2KI00, Q3B820, Q3KQD1, Q3TGF2, Q3ZBE5, Q45GW3, Q4R4P2, Q502W7, Q569B9, Q5EAW4, Q5RHY1, Q5U4F3, Q5XI37, Q5XIN9, Q5ZIG2, Q69ZQ2, Q6SP97, Q7L590, Q80ZG5, Q8BHJ9, Q8BRC6, Q8CDN8, Q8NCR3, Q8TC29

Diamond homologs: P83565, Q9NQ50, Q9Z2Q5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPL40	“form complex”	“39S mitochondrial large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 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	37	45.0×	2e-51
Mitochondrial translation	31	42.2×	5e-42
Mitochondrial translation initiation	33	41.5×	2e-44
Mitochondrial translation elongation	33	41.5×	2e-44
Mitochondrial translation termination	33	35.9×	5e-42
Translation	33	20.3×	5e-33
Peptide chain elongation	9	11.3×	4e-06
Viral mRNA Translation	9	11.3×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	36	53.5×	1e-51
mitochondrial large ribosomal subunit assembly	5	42.4×	2e-05
translation	28	24.6×	6e-29
cytoplasmic translation	9	14.2×	3e-06
negative regulation of translation	7	11.7×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	34
Likely benign	14
Benign	5

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
148923	GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1	Pathogenic
1703235	Single allele	Pathogenic
2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	Pathogenic
625619	GRCh37/hg19 22q11.21(chr22:18912514-21922035)	Pathogenic
625625	GRCh37/hg19 22q11.21(chr22:18912870-21431174)	Pathogenic

SpliceAI

501 predictions. Top by Δscore:

Variant	Effect	Δscore
22:19434731:A:AG	acceptor_gain	1.0000
22:19434734:A:AG	acceptor_gain	1.0000
22:19434735:G:GA	acceptor_gain	1.0000
22:19434735:GA:G	acceptor_gain	1.0000
22:19434735:GAT:G	acceptor_gain	1.0000
22:19434735:GATC:G	acceptor_gain	1.0000
22:19434735:GATCA:G	acceptor_gain	1.0000
22:19434842:C:G	donor_gain	1.0000
22:19434890:GCAAG:G	donor_gain	1.0000
22:19434893:AGGTA:A	donor_loss	1.0000
22:19434894:GGTAA:G	donor_loss	1.0000
22:19434895:GTAAG:G	donor_loss	1.0000
22:19434896:T:A	donor_loss	1.0000
22:19435637:GA:G	acceptor_gain	1.0000
22:19432574:G:GT	donor_gain	0.9900
22:19432604:GCGG:G	donor_gain	0.9900
22:19432606:GG:G	donor_gain	0.9900
22:19432607:GG:G	donor_gain	0.9900
22:19433349:G:C	donor_loss	0.9900
22:19433350:T:G	donor_loss	0.9900
22:19434732:T:G	acceptor_gain	0.9900
22:19434895:G:GG	donor_gain	0.9900
22:19435632:TTGCA:T	acceptor_loss	0.9900
22:19435634:GCA:G	acceptor_loss	0.9900
22:19435635:CA:C	acceptor_loss	0.9900
22:19435635:CAGAG:C	acceptor_gain	0.9900
22:19435636:A:AC	acceptor_loss	0.9900
22:19435636:A:AG	acceptor_gain	0.9900
22:19435636:AGAGA:A	acceptor_gain	0.9900
22:19435637:G:C	acceptor_gain	0.9900

AlphaMissense

1331 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:19435702:T:A	W121R	0.979
22:19435702:T:C	W121R	0.979
22:19435822:G:C	A161P	0.976
22:19435765:G:C	A142P	0.963
22:19435704:G:C	W121C	0.960
22:19435704:G:T	W121C	0.960
22:19434798:G:C	R67P	0.957
22:19434805:A:C	K69N	0.950
22:19434805:A:T	K69N	0.950
22:19435777:G:C	A146P	0.949
22:19435790:T:C	L150P	0.948
22:19434797:C:A	R67S	0.946
22:19435928:C:T	T196I	0.943
22:19434816:G:C	R73P	0.934
22:19434754:A:C	K52N	0.930
22:19434754:A:T	K52N	0.930
22:19434857:G:C	D87H	0.928
22:19435716:G:C	K125N	0.928
22:19435716:G:T	K125N	0.928
22:19434793:G:C	K65N	0.926
22:19434793:G:T	K65N	0.926
22:19435909:G:C	G190R	0.921
22:19434813:T:C	I72T	0.920
22:19435801:T:C	S154P	0.918
22:19434822:T:C	L75P	0.913
22:19435698:G:C	K119N	0.909
22:19435698:G:T	K119N	0.909
22:19435691:T:C	L117P	0.908
22:19434757:G:C	K53N	0.907
22:19434757:G:T	K53N	0.907

dbSNP variants (sampled 300 via entrez): RS1000249912 (22:19432446 A>T), RS1000967157 (22:19434847 T>C), RS1001704390 (22:19430797 T>C), RS1001933722 (22:19431641 CGCCGCCACA>C,CGCCGCCACAGCCGCCACA), RS1002188629 (22:19431069 C>A,T), RS1002735118 (22:19431982 C>G), RS1002783352 (22:19434199 C>T), RS1003113924 (22:19431742 T>G), RS1004142207 (22:19432684 C>A,T), RS1004703439 (22:19434078 A>G), RS1005510068 (22:19436168 A>G), RS1005516269 (22:19430537 CCCTTTG>C), RS1005670882 (22:19435293 A>G), RS1006004154 (22:19430700 G>A), RS1006449085 (22:19434469 C>T)

Disease associations

OMIM: gene MIM:605089 | disease phenotypes: MIM:611867, MIM:608363, MIM:188400

GenCC curated gene-disease

Mondo (3): chromosome 22q11.2 deletion syndrome, distal (MONDO:0012740), chromosome 22q11.2 microduplication syndrome (MONDO:0012020), DiGeorge syndrome (MONDO:0008564)

Orphanet (3): Distal 22q11.2 microdeletion syndrome (Orphanet:261330), 22q11.2 duplication syndrome (Orphanet:1727), 22q11.2 deletion syndrome (Orphanet:567)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D004062	DiGeorge Syndrome	C05.660.207.103.500; C14.240.400.021.500; C14.280.400.044.500; C15.604.451.249.500; C16.131.077.019.500; C16.131.240.400.021.500; C16.131.260.019.500; C16.131.482.249.500; C16.131.621.207.103.500; C16.320.180.019.500; C19.642.482.500.500
C567511	Chromosome 22q11.2 Deletion Syndrome, Distal (supp.)
C567224	Chromosome 22q11.2 Microduplication Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, increases methylation, affects cotreatment	7
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	2
Acetaminophen	decreases expression, increases expression, affects cotreatment	2
Air Pollutants	increases abundance, decreases expression, affects expression	2
methylmercuric chloride	decreases expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects expression	1
Vorinostat	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Estradiol	decreases expression	1
Lipopolysaccharides	decreases expression, affects cotreatment	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Ozone	affects expression, increases abundance	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Cyclosporine	decreases expression	1
Paclitaxel	affects response to substance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1XK	Abcam HeLa MRPL40 KO	Cancer cell line	Female
CVCL_D8FB	Ubigene C4-2B MRPL40 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00395538	PHASE3	TERMINATED	Effects of PTH Replacement on Bone in Hypoparathyroidism
NCT00576407	PHASE2	COMPLETED	Thymus Transplantation in DiGeorge Syndrome #668
NCT00576836	PHASE2	COMPLETED	Thymus Transplantation Dose in DiGeorge #932
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT05149898	PHASE2	COMPLETED	Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)
NCT07284641	PHASE2	RECRUITING	Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
NCT00566488	PHASE1	COMPLETED	Parathyroid and Thymus Transplantation in DiGeorge #931
NCT00579709	PHASE1	COMPLETED	Thymus Transplantation With Immunosuppression
NCT00849888	PHASE1	TERMINATED	Serum-Free Thymus Transplantation in DiGeorge Anomaly
NCT02895906	PHASE1	COMPLETED	Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
NCT00579527	PHASE1/PHASE2	COMPLETED	Phase I/II Thymus Transplantation With Immunosuppression #950
NCT00004351	Not specified	COMPLETED	Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
NCT00005102	Not specified	UNKNOWN	Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
NCT00105274	Not specified	COMPLETED	Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
NCT00278005	Not specified	TERMINATED	Infection in DiGeorge Following CHD Surgery
NCT00556530	Not specified	RECRUITING	Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
NCT00916955	Not specified	COMPLETED	Genetic Modifiers for 22q11.2 Syndrome
NCT01220531	Not specified	COMPLETED	Thymus Transplantation Safety-Efficacy
NCT01781923	Not specified	COMPLETED	Cognitive Remediation in 22q11DS
NCT02381457	Not specified	COMPLETED	SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
NCT02430584	Not specified	UNKNOWN	Whole Blood Specimen Collection From Pregnant Subjects
NCT02460328	Not specified	COMPLETED	Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
NCT02787486	Not specified	COMPLETED	Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
NCT03284060	Not specified	TERMINATED	Social Cognition Training and Cognitive Remediation
NCT04141540	Not specified	COMPLETED	Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11
NCT04373226	Not specified	TERMINATED	Arithmetic Abilities in Children With 22q11.2DS
NCT04639388	Not specified	RECRUITING	Understanding of Psychotic Disorders in Children With 22q11.2DS
NCT04639960	Not specified	TERMINATED	Neuroprotective Effects of Risperdal on Brain and Cognition in 22q11 Deletion Syndrome
NCT04647500	Not specified	COMPLETED	Effects of Methylphenidate on Brain and Cognition in 22q11 Deletion Syndrome
NCT05924347	Not specified	RECRUITING	Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development
NCT07493096	Not specified	RECRUITING	Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders