MRPL23

Summary

MRPL23 (mitochondrial ribosomal protein L23, HGNC:10322) is a protein-coding gene on chromosome 11p15.5, encoding Large ribosomal subunit protein uL23m (Q16540). It is a selective cancer dependency (DepMap: 31.5% 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. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11.

Source: NCBI Gene 6150 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 56 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 31.5% of screened cell lines
• MANE Select transcript: NM_021134

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10322
Approved symbol	MRPL23
Name	mitochondrial ribosomal protein L23
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	L23MRP, uL23m
Ensembl gene	ENSG00000214026
Ensembl biotype	protein_coding
OMIM	600789
Entrez	6150

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 11 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000381514, ENST00000381519, ENST00000397294, ENST00000397297, ENST00000397298, ENST00000429295, ENST00000462288, ENST00000466346, ENST00000484918, ENST00000486931, ENST00000869797, ENST00000869798, ENST00000924182, ENST00000924183, ENST00000924184, ENST00000954473

RefSeq mRNA: 6 — MANE Select: NM_021134 NM_001400172, NM_001400174, NM_001400176, NM_001400179, NM_001400182, NM_021134

CCDS: CCDS31336, CCDS91407, CCDS91408

Canonical transcript exons

ENST00000397298 — 5 exons

Exon	Start	End
ENSE00001528081	1947332	1947379
ENSE00003460509	1952127	1952209
ENSE00003474486	1950899	1951021
ENSE00003555433	1952782	1952855
ENSE00003664374	1956256	1956600

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 66.8745 / max 402.4467, expressed in 1825 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112580	66.7212	1825
112584	0.0775	18
112585	0.0757	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	98.23	gold quality
apex of heart	UBERON:0002098	98.15	gold quality
right uterine tube	UBERON:0001302	98.12	gold quality
mucosa of transverse colon	UBERON:0004991	98.07	gold quality
lower esophagus mucosa	UBERON:0035834	97.99	gold quality
adenohypophysis	UBERON:0002196	97.18	gold quality
left adrenal gland cortex	UBERON:0035825	96.98	gold quality
gastrocnemius	UBERON:0001388	96.97	gold quality
muscle of leg	UBERON:0001383	96.78	gold quality
skin of abdomen	UBERON:0001416	96.63	gold quality
minor salivary gland	UBERON:0001830	96.56	gold quality
right lobe of liver	UBERON:0001114	96.55	gold quality
skin of leg	UBERON:0001511	96.53	gold quality
zone of skin	UBERON:0000014	96.52	gold quality
left adrenal gland	UBERON:0001234	96.52	gold quality
body of pancreas	UBERON:0001150	96.50	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.49	gold quality
pituitary gland	UBERON:0000007	96.48	gold quality
saliva-secreting gland	UBERON:0001044	96.48	gold quality
metanephros cortex	UBERON:0010533	96.46	gold quality
heart left ventricle	UBERON:0002084	96.41	gold quality
right atrium auricular region	UBERON:0006631	96.34	gold quality
left ovary	UBERON:0002119	96.25	gold quality
esophagus mucosa	UBERON:0002469	96.13	gold quality
ectocervix	UBERON:0012249	95.97	gold quality
body of stomach	UBERON:0001161	95.96	gold quality
granulocyte	CL:0000094	95.83	gold quality
heart	UBERON:0000948	95.80	gold quality
right lung	UBERON:0002167	95.80	gold quality
adult mammalian kidney	UBERON:0000082	95.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting MRPL23, 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-1976	99.74	65.48	1127
HSA-MIR-3178	89.40	60.05	100

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 31.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• 5-FU treatment triggers a ribosomal stress response so that ribosomal proteins L5, L11, and L23 are released from ribosome to activate p53 by ablating the MDM2-p53 feedback circuit (PMID:17242401)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrpl23	ENSDARG00000045696
mus_musculus	Mrpl23	ENSMUSG00000037772
rattus_norvegicus	Mrpl23	ENSRNOG00000020354
drosophila_melanogaster	mRpL23	FBGN0035335
caenorhabditis_elegans	mrpl-23	WBGENE00020348

Paralogs (1): (ENSG00000276345)

Protein

Protein identifiers

Large ribosomal subunit protein uL23m — Q16540 (reviewed: Q16540)

Alternative names: 39S ribosomal protein L23, mitochondrial, L23 mitochondrial-related protein, Ribosomal protein L23-like

All UniProt accessions (5): A6NJD9, A8MVT4, A8MYK1, Q16540, H7C2P7

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.

Subcellular location. Mitochondrion.

Similarity. Belongs to the universal ribosomal protein uL23 family.

RefSeq proteins (6): NP_001387101, NP_001387103, NP_001387105, NP_001387108, NP_001387111, NP_066957* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR012678	Ribosomal_uL23/eL15/eS24_sf	Homologous_superfamily
IPR013025	Ribosomal_uL23-like	Family

Pfam: PF00276

UniProt features (17 total): strand 6, sequence variant 5, helix 3, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

86 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
8QU1	ELECTRON MICROSCOPY	2.74
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
8ANY	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7QH7	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

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16540-F1	92.77	0.78

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: 173 (showing top): ENK_UV_RESPONSE_KERATINOCYTE_UP, MORF_UBE2I, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_TRANSLATION, MORF_CTBP1, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, ZHAN_V1_LATE_DIFFERENTIATION_GENES_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS

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

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

GO Cellular Component (7): fibrillar center (GO:0001650), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribosomal subunit (GO:0044391), 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
ribosome	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
binding	1
nucleolus	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
organellar large ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
intracellular membraneless organelle	1
ribonucleoprotein complex	1
protein-containing complex	1

Protein interactions and networks

STRING

2125 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPL23	NAP1L4	Q99733	677
MRPL23	IGF2	P01344	637
MRPL23	MRPL47	Q9HD33	606
MRPL23	CTCFL	Q8NI51	588
MRPL23	MRPL20	Q9BYC9	587
MRPL23	COX7A1	P24310	585
MRPL23	MRPL9	Q9BYD2	585
MRPL23	SYT8	Q8NBV8	558
MRPL23	PHLDA2	Q53GA4	557
MRPL23	MRPL19	P49406	544
MRPL23	MRPL24	Q96A35	534
MRPL23	ASCL2	Q99929	508
MRPL23	MRPS34	P82930	506
MRPL23	TSSC4	Q9Y5U2	506
MRPL23	CTCF	P49711	499

IntAct

133 interactions, top by confidence:

A	B	Type	Score
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
USP44	CETN2	psi-mi:“MI:0914”(association)	0.690
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
PNMA1	MRPL23	psi-mi:“MI:0915”(physical association)	0.560
MRPL23	PNMA1	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	MRPL23	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-1	MRPL23	psi-mi:“MI:0915”(physical association)	0.560
MRPL23	KRTAP3-3	psi-mi:“MI:0915”(physical association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
NDUFAB1	MRPL23	psi-mi:“MI:0915”(physical association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL23	BCKDHA	psi-mi:“MI:0914”(association)	0.530
MRPL27	MRPL33	psi-mi:“MI:0914”(association)	0.530
NDUFAB1	MIEF1	psi-mi:“MI:0915”(physical association)	0.490
MRPL23	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400
ASB10	MRPL23	psi-mi:“MI:0915”(physical association)	0.370
Cd2ap		psi-mi:“MI:0914”(association)	0.350
Ccser2	PAFAH1B1	psi-mi:“MI:0914”(association)	0.350
JAK3	WDR46	psi-mi:“MI:0914”(association)	0.350
MRPL50	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL9	MRPL43	psi-mi:“MI:0914”(association)	0.350
NP	HNRNPDL	psi-mi:“MI:0914”(association)	0.350
NP	HNRNPAB	psi-mi:“MI:0914”(association)	0.350
PB2	ESYT2	psi-mi:“MI:0914”(association)	0.350
NP	KPNA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (261): PNMA1 (Two-hybrid), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL23 (Affinity Capture-MS)

ESM2 similar proteins: A2VE61, A5PJM7, B5FWC0, D4ABL6, E9PV86, F1QH17, O35972, O95782, P0C2C0, P0C7P0, P13984, P17426, P52848, Q01750, Q02353, Q08200, Q16540, Q2T9L9, Q3SZB3, Q3SZX5, Q3UHN9, Q3UMR5, Q3ZCQ8, Q4V8I4, Q5R7B1, Q5RAH3, Q5RAJ8, Q5U4X8, Q63750, Q6IQS9, Q6P6G7, Q6P6Q9, Q6TH22, Q7ZYA7, Q86TD4, Q8BU88, Q8CIW5, Q8NE86, Q8R0A0, Q8TF64

Diamond homologs: A1S220, A3Q984, A8G1E6, A8GYX8, B0TM10, B1KMY1, B4UBA1, B5FWC0, B8CND5, B8J862, O35972, P55839, Q09727, Q0HNT5, Q0I0A3, Q0I161, Q16540, Q2IJ87, Q5TUE9, Q61DA8, Q63750, Q65QV7, Q6IQS9, Q7SA60, Q7VKD4, Q8EK66, Q9CL34, Q9GYS9, Q9W021, A5UDU5, A5UHT2, A7HBM0, C0Q9X1, C4L7T2, P44361, Q089Q2, Q0ABH3, Q0VSK1, Q12SV7, Q4QMC0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPL23	“form complex”	“39S mitochondrial large 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	27	37.7×	6e-34
Mitochondrial translation	24	37.5×	2e-30
Mitochondrial translation initiation	25	36.0×	4e-31
Mitochondrial translation elongation	25	36.0×	4e-31
Mitochondrial translation termination	25	31.2×	1e-29
Translation	26	18.3×	2e-24
Peptide chain elongation	6	8.7×	3e-03
Viral mRNA Translation	6	8.7×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	25	42.6×	6e-32
translation	20	20.1×	2e-18
cytoplasmic translation	6	10.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	42
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
162494	GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3	Pathogenic

SpliceAI

1136 predictions. Top by Δscore:

Variant	Effect	Δscore
11:1947375:GTGGT:G	donor_gain	1.0000
11:1947378:GT:G	donor_gain	1.0000
11:1947380:G:GG	donor_gain	1.0000
11:1950894:TACA:T	acceptor_loss	1.0000
11:1950895:A:AG	acceptor_gain	1.0000
11:1950895:ACAG:A	acceptor_gain	1.0000
11:1950896:C:G	acceptor_gain	1.0000
11:1950896:CAGGT:C	acceptor_loss	1.0000
11:1950897:A:AG	acceptor_gain	1.0000
11:1950897:A:C	acceptor_loss	1.0000
11:1950897:AG:A	acceptor_gain	1.0000
11:1950898:G:GG	acceptor_gain	1.0000
11:1950898:GG:G	acceptor_gain	1.0000
11:1950898:GGT:G	acceptor_gain	1.0000
11:1950898:GGTA:G	acceptor_gain	1.0000
11:1950898:GGTAC:G	acceptor_gain	1.0000
11:1951017:ATGGA:A	donor_gain	1.0000
11:1951018:TGGA:T	donor_gain	1.0000
11:1951019:G:GT	donor_gain	1.0000
11:1951019:GGA:G	donor_gain	1.0000
11:1951020:GA:G	donor_gain	1.0000
11:1951020:GAG:G	donor_gain	1.0000
11:1951021:AG:A	donor_loss	1.0000
11:1951022:GTGA:G	donor_gain	1.0000
11:1952118:C:CA	acceptor_gain	1.0000
11:1952122:TCCAG:T	acceptor_loss	1.0000
11:1952124:CA:C	acceptor_loss	1.0000
11:1952125:A:AG	acceptor_gain	1.0000
11:1952125:AGAAT:A	acceptor_gain	1.0000
11:1952126:G:GT	acceptor_gain	1.0000

AlphaMissense

1001 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:1952837:G:C	K93N	0.993
11:1952837:G:T	K93N	0.993
11:1956271:T:C	F105L	0.993
11:1956273:C:A	F105L	0.993
11:1956273:C:G	F105L	0.993
11:1951006:T:C	F42S	0.991
11:1952842:C:A	A95D	0.990
11:1956277:T:C	F107L	0.989
11:1956279:C:A	F107L	0.989
11:1956279:C:G	F107L	0.989
11:1952848:T:A	V97E	0.985
11:1956272:T:C	F105S	0.984
11:1951005:T:C	F42L	0.983
11:1951007:C:A	F42L	0.983
11:1951007:C:G	F42L	0.983
11:1952156:T:A	L57H	0.982
11:1950951:T:C	F24L	0.981
11:1950953:C:A	F24L	0.981
11:1950953:C:G	F24L	0.981
11:1952144:T:C	L53P	0.981
11:1952144:T:A	L53H	0.979
11:1952192:G:C	R69P	0.979
11:1950939:T:C	F20L	0.976
11:1950941:C:A	F20L	0.976
11:1950941:C:G	F20L	0.976
11:1952835:A:G	K93E	0.974
11:1952841:G:C	A95P	0.974
11:1952129:T:C	M48T	0.973
11:1952198:G:C	R71P	0.973
11:1952132:C:T	T49I	0.972

dbSNP variants (sampled 300 via entrez): RS1000073248 (11:1977642 G>A), RS1000092696 (11:1953511 A>G), RS1000129643 (11:1981875 A>G), RS1000219167 (11:1986402 T>A,G), RS1000348835 (11:1965392 G>C), RS1000608999 (11:1971390 GCGGCTGCCCCGGGCCCTGGCT>G), RS1000682451 (11:1978691 G>A,T), RS1000877876 (11:1992011 G>T), RS1000917270 (11:1958251 G>A,T), RS1000947769 (11:1958449 G>A,T), RS1001383248 (11:1996221 A>G), RS1001426238 (11:1966589 C>T), RS1001433769 (11:1986671 T>C), RS1001503974 (11:1954349 G>A), RS1001589416 (11:1951252 A>AGGCTG)

Disease associations

OMIM: gene MIM:600789 | disease phenotypes: MIM:194071, MIM:256730

GenCC curated gene-disease

Mondo (2): Wilms tumor 2 (MONDO:0008680), neuronal ceroid lipofuscinosis (MONDO:0016295)

Orphanet (3): Nephroblastoma (Orphanet:654), Neuronal ceroid lipofuscinosis (Orphanet:216), OBSOLETE: Infantile neuronal ceroid lipofuscinosis (Orphanet:79263)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002058_1	DNA methylation (variation)	5.000000e-07
GCST002112_1	Celiac disease	7.000000e-06
GCST006167_27	Mean arterial pressure x alcohol consumption interaction (2df test)	4.000000e-10
GCST006167_57	Mean arterial pressure x alcohol consumption interaction (2df test)	5.000000e-10
GCST006434_97	Systolic blood pressure x alcohol consumption interaction (2df test)	3.000000e-18

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0022599	DNA methylation
EFO:0004329	alcohol drinking
EFO:0006340	mean arterial pressure
EFO:0006335	systolic blood pressure

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536853	Familial Wilms tumor 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2107425	H19, MRPL23		0.00	0
rs2839698	H19, MIR675, MRPL23	3	2.25	1	Platinum compounds

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects cotreatment, decreases expression	4
Valproic Acid	affects expression, increases expression, increases methylation	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
bisphenol F	affects cotreatment, increases methylation	1
bisphenol A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
methacrylaldehyde	increases oxidation, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
bisphenol B	increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acrolein	affects cotreatment, increases oxidation	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Copper	affects binding, decreases expression	1
Diazinon	increases methylation	1
Diethylstilbestrol	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Ozone	affects cotreatment, increases oxidation	1
Phenobarbital	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00337636	PHASE1	COMPLETED	Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL)
NCT01238315	PHASE1	WITHDRAWN	Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis
NCT07582484	PHASE1/PHASE2	NOT_YET_RECRUITING	Gene Therapy Trial for CLN6 Batten Disease
NCT01873924	Not specified	RECRUITING	Clinical and Neuropsychological Investigations in Batten Disease
NCT01966757	Not specified	COMPLETED	Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
NCT04613089	Not specified	RECRUITING	Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
NCT06844877	Not specified	RECRUITING	Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies