MRPS18B

Summary

MRPS18B (mitochondrial ribosomal protein S18B, HGNC:14516) is a protein-coding gene on chromosome 6p21.33, encoding Small ribosomal subunit protein mS40 (Q9Y676). It is a selective cancer dependency (DepMap: 59.1% 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 S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q.

Source: NCBI Gene 28973 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 61 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 59.1% of screened cell lines
• MANE Select transcript: NM_014046

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14516
Approved symbol	MRPS18B
Name	mitochondrial ribosomal protein S18B
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	MRPS18-2, PTD017, C6orf14, HSPC183, mS40
Ensembl gene	ENSG00000204568
Ensembl biotype	protein_coding
OMIM	611982
Entrez	28973

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000259873, ENST00000472229, ENST00000472267, ENST00000492316, ENST00000854951, ENST00000854952, ENST00000854953, ENST00000854954, ENST00000854955, ENST00000940251, ENST00000940252, ENST00000940253

RefSeq mRNA: 1 — MANE Select: NM_014046 NM_014046

CCDS: CCDS4682

Canonical transcript exons

ENST00000259873 — 7 exons

Exon	Start	End
ENSE00001633457	30617840	30617943
ENSE00003481060	30624883	30624942
ENSE00003559815	30625502	30626392
ENSE00003568954	30619709	30619806
ENSE00003577810	30619921	30619989
ENSE00003599521	30619493	30619601
ENSE00003653395	30622832	30622898

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 97.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.9405 / max 308.5750, expressed in 1821 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66744	59.9405	1821

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	97.87	gold quality
muscle of leg	UBERON:0001383	97.71	gold quality
skeletal muscle organ	UBERON:0014892	97.69	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.30	gold quality
skeletal muscle tissue	UBERON:0001134	97.20	gold quality
heart left ventricle	UBERON:0002084	97.06	gold quality
apex of heart	UBERON:0002098	96.96	gold quality
muscle tissue	UBERON:0002385	96.38	gold quality
islet of Langerhans	UBERON:0000006	96.05	gold quality
adult mammalian kidney	UBERON:0000082	95.89	gold quality
rectum	UBERON:0001052	95.87	gold quality
heart	UBERON:0000948	95.78	gold quality
right adrenal gland	UBERON:0001233	95.68	gold quality
body of pancreas	UBERON:0001150	95.51	gold quality
pancreas	UBERON:0001264	95.46	gold quality
right lobe of liver	UBERON:0001114	95.45	gold quality
right adrenal gland cortex	UBERON:0035827	95.41	gold quality
left adrenal gland	UBERON:0001234	95.20	gold quality
mucosa of transverse colon	UBERON:0004991	95.19	gold quality
right atrium auricular region	UBERON:0006631	95.03	gold quality
left adrenal gland cortex	UBERON:0035825	94.92	gold quality
liver	UBERON:0002107	94.74	gold quality
duodenum	UBERON:0002114	94.71	gold quality
fallopian tube	UBERON:0003889	94.51	gold quality
body of stomach	UBERON:0001161	94.45	gold quality
metanephros cortex	UBERON:0010533	94.41	gold quality
adrenal gland	UBERON:0002369	94.32	gold quality
kidney	UBERON:0002113	94.30	gold quality
fundus of stomach	UBERON:0001160	94.24	gold quality
cortex of kidney	UBERON:0001225	94.08	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6386	no	567.13
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, NCOR1, YY1

miRNA regulators (miRDB)

23 targeting MRPS18B, 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-3617-3P	99.98	67.86	918
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-8077	99.17	66.67	862
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-4650-3P	99.01	68.39	1062
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-500B-3P	96.49	65.40	1087
HSA-MIR-571	95.38	66.54	671
HSA-MIR-3672	94.46	65.67	646
HSA-MIR-6864-3P	94.46	65.97	625
HSA-MIR-4732-5P	90.07	64.77	412

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 59.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• EBNA-6 {ebna-3c} binds to MRPS18-2 , and targets it to the nucleus; binding targets the small pocket of pRb, which is a site of interaction with E2F1. The MRPS18-2 competes with the binding of E2F1 to pRb, thereby raising the level of free E2F1 (PMID:18391203)
• S18-2 is a newly identified oncoprotein that may be involved in cancerogenesis (PMID:26023799)
• We conclude that high expression of S18-2 and free E2F…1might be a good set of prognostic markers for endometrial cancer (PMID:26959119)
• Evolutionary trace analysis showed that the S18-2 protein is mutated at the higher rate in tumors, compared with S18-1 and S18-3. The one of the most conserved residues in the S18-2 protein sequence, Gly132, is often mutated in colorectal cancer. (PMID:27489352)
• Studies suggest that mitochondrial ribosomal protein S18-2 protein, together with the retinoblastoma protein (RB), plays a crucial role in the control on cell stemness and differentiation. (PMID:28361860)
• Together, these data suggest that the S18-2 protein induces epithelial to mesenchymal cell transition through the TWIST2/E-cadherin signalling and, consequently, CXCR4-mediated migration of prostate cancer cells. (PMID:29396484)
• trend for increasing expression of the S18-2 protein in tumors correlates with the aggressiveness of malignant breast cancer. (PMID:30593750)
• Expression pattern of MRPS18 family genes in gliomas. (PMID:34591434)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps18b	ENSDARG00000007065
mus_musculus	Mrps18b	ENSMUSG00000024436
rattus_norvegicus	Mrps18b	ENSRNOG00000000804
drosophila_melanogaster	mRpS18B	FBGN0032849
caenorhabditis_elegans		WBGENE00011759

Protein

Protein identifiers

Small ribosomal subunit protein mS40 — Q9Y676 (reviewed: Q9Y676)

Alternative names: 28S ribosomal protein S18-2, mitochondrial, 28S ribosomal protein S18b, mitochondrial, Small ribosomal subunit protein bS18b

All UniProt accessions (2): B0S7P4, Q9Y676

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. mS40 has a zinc binding site.

Subcellular location. Mitochondrion.

Miscellaneous. There are 3 mitochondrial isoforms of bS18 in mammalia, localizing to 3 distinct sites in the mitoribosome. bS18m (bs18c) binds to the same site as bacterial bS18, mS40 (bS18b, this protein) binds to a novel location of the 28S small subunit, and mL66 (bS18a) binds to the 39S large subunit.

Similarity. Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mS40 subfamily.

RefSeq proteins (1): NP_054765* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001648	Ribosomal_bS18	Family
IPR036870	Ribosomal_bS18_sf	Homologous_superfamily
IPR040054	MRPS18B	Family

Pfam: PF01084

UniProt features (25 total): helix 8, turn 5, strand 3, compositionally biased region 2, modified residue 2, transit peptide 1, chain 1, region of interest 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-Q9Y676-F1	83.25	0.69

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): 38, 49

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: 266 (showing top): MORF_MTA1, RNGTGGGC_UNKNOWN, FXR_IR1_Q6, SHEPARD_BMYB_MORPHOLINO_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, TGCGCANK_UNKNOWN, MORF_BUB1, MODULE_151, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MITOCHONDRIAL_TRANSLATION, CREBP1_Q2, MORF_HDAC2, GOBP_TRANSLATION, IRF7_01, FREAC3_01

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 (7): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), cell junction (GO:0030054), 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
cellular anatomical structure	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
nuclear lumen	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

1392 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS18B	MRPS18A	Q9NVS2	986
MRPS18B	MRPL12	P52815	753
MRPS18B	DAP3	P51398	742
MRPS18B	MRPS7	Q9Y2R9	720
MRPS18B	MRPL11	Q9Y3B7	671
MRPS18B	MRPS33	Q9Y291	666
MRPS18B	MRPS22	P82650	664
MRPS18B	ERAL1	O75616	655
MRPS18B	MRPL45	Q9BRJ2	648
MRPS18B	MRPS27	Q92552	605
MRPS18B	MRPL37	Q9BZE1	597
MRPS18B	MPV17L2	Q567V2	561
MRPS18B	MRPL48	Q96GC5	558
MRPS18B	MRPS18C	Q9Y3D5	545
MRPS18B	MRPL58	Q14197	544

IntAct

223 interactions, top by confidence:

A	B	Type	Score
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
MRPS18B	MRPS27	psi-mi:“MI:0915”(physical association)	0.770
MRPS18B	EBNA6	psi-mi:“MI:0914”(association)	0.660
EBNA6	MRPS18B	psi-mi:“MI:0407”(direct interaction)	0.660
MRPS18B	EBNA6	psi-mi:“MI:0915”(physical association)	0.660
MRPS18B	EBNA6	psi-mi:“MI:0407”(direct interaction)	0.660
MRPS27	MRPS14	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
MRPS18B	MRPS22	psi-mi:“MI:0915”(physical association)	0.560
TMEM120B	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
TMED8	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
LRP10	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
SYS1	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
SLC35A1	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
BMP10	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
LAT	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
ZFPL1	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
TUSC5	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
MIP	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
CD81	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
CLEC1A	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
TNFRSF10C	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
SEC22B	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
TMEM128	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
IGFBP5	MRPS18B	psi-mi:“MI:0915”(physical association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
TRMT10B	MRPS14	psi-mi:“MI:0914”(association)	0.530

BioGRID (391): MRPS18B (Affinity Capture-RNA), MRPS18B (Affinity Capture-MS), MRPS18B (Affinity Capture-MS), MRPS18B (Affinity Capture-MS), MRPS18B (Two-hybrid), MRPS18B (Affinity Capture-MS), MRPS18B (Co-fractionation), MRPS18B (Co-fractionation), MRPS18B (Co-fractionation), MRPS18B (Co-fractionation), MRPS18B (Co-fractionation), MRPS18B (Co-fractionation), MRPS6 (Co-fractionation), MRPS18B (Affinity Capture-MS), MRPS18B (Affinity Capture-MS)

ESM2 similar proteins: P0C2B8, P0C2C1, P49406, P82675, P82913, P82933, Q13084, Q1XHY1, Q29IK4, Q2HJI0, Q2HJJ1, Q2KID9, Q2TBI6, Q3T040, Q3T0J3, Q3ZBR7, Q498Z6, Q4R6U7, Q58DQ5, Q58DV5, Q5I0K8, Q5M818, Q5R7L3, Q5R8M4, Q5REJ1, Q5SPH9, Q5TM62, Q5ZMU0, Q68EV6, Q6DDY9, Q6DGL8, Q80X85, Q8TCC3, Q99N85, Q99N87, Q99N93, Q9BYC8, Q9CQL5, Q9D1B9, Q9D338

Diamond homologs: A0AEM3, A0LAG7, A0LN58, A4ITV8, A5G7R2, A5IJG9, A5UYQ5, A6LKQ1, A7GVN5, A8FJE5, A8ZRQ2, A9BH64, B1L8K5, B5EHW8, B5Y876, B8DAM0, B9M5U9, C0R3A3, C1F903, C1KV87, C5D9X4, C6E504, P10806, P21475, P66461, P66462, P82917, P82918, Q01QR5, Q0RTD6, Q1IHW4, Q1XHY1, Q2G8G4, Q3AG25, Q4A5M9, Q5GSD5, Q5KU71, Q5TM62, Q5WAH5, Q65CP5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS18B	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 194 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	17	18.3×	4e-15
Mitochondrial translation initiation	18	17.8×	1e-15
Mitochondrial translation elongation	18	17.8×	1e-15
Mitochondrial ribosome-associated quality control	18	17.3×	2e-15
Mitochondrial translation termination	18	15.4×	8e-15
Translation	21	10.2×	1e-13
Mitochondrial protein degradation	7	6.2×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	17	17.2×	1e-13
ribosomal small subunit biogenesis	7	9.3×	4e-03
translation	13	7.8×	8e-06
protein import into nucleus	8	6.7×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

532 predictions. Top by Δscore:

Variant	Effect	Δscore
6:30619488:TGTAG:T	acceptor_gain	1.0000
6:30619489:GTA:G	acceptor_loss	1.0000
6:30619489:GTAGG:G	acceptor_gain	1.0000
6:30619490:TAGGT:T	acceptor_gain	1.0000
6:30619491:A:AG	acceptor_gain	1.0000
6:30619491:AG:A	acceptor_gain	1.0000
6:30619492:G:GG	acceptor_gain	1.0000
6:30619492:GG:G	acceptor_gain	1.0000
6:30619492:GGT:G	acceptor_gain	1.0000
6:30619492:GGTT:G	acceptor_gain	1.0000
6:30619492:GGTTC:G	acceptor_gain	1.0000
6:30619597:AGAAG:A	donor_loss	1.0000
6:30619598:GAAG:G	donor_gain	1.0000
6:30619599:A:T	donor_gain	1.0000
6:30619599:AAGG:A	donor_loss	1.0000
6:30619600:AGGT:A	donor_loss	1.0000
6:30619601:GGT:G	donor_loss	1.0000
6:30619602:GT:G	donor_loss	1.0000
6:30619603:T:G	donor_loss	1.0000
6:30619702:A:AG	acceptor_gain	1.0000
6:30619703:T:G	acceptor_gain	1.0000
6:30619706:CA:C	acceptor_loss	1.0000
6:30619707:A:AG	acceptor_gain	1.0000
6:30619708:G:GA	acceptor_gain	1.0000
6:30619708:GA:G	acceptor_gain	1.0000
6:30619708:GAA:G	acceptor_gain	1.0000
6:30619708:GAAT:G	acceptor_gain	1.0000
6:30619708:GAATA:G	acceptor_gain	1.0000
6:30619794:G:GT	donor_gain	1.0000
6:30619797:GACAT:G	donor_gain	1.0000

AlphaMissense

1654 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:30622853:T:C	F126L	0.995
6:30622855:T:A	F126L	0.995
6:30622855:T:G	F126L	0.995
6:30619741:T:A	W74R	0.988
6:30619741:T:C	W74R	0.988
6:30624910:T:C	L150S	0.985
6:30624930:G:C	A157P	0.985
6:30619743:G:C	W74C	0.983
6:30619743:G:T	W74C	0.983
6:30622854:T:C	F126S	0.982
6:30619739:T:A	V73D	0.981
6:30624918:G:C	A153P	0.980
6:30619948:T:C	C105R	0.979
6:30622834:C:A	N119K	0.978
6:30622834:C:G	N119K	0.978
6:30624931:C:A	A157D	0.975
6:30622854:T:G	F126C	0.974
6:30619586:T:C	Y58H	0.972
6:30619973:T:C	L113S	0.972
6:30619756:C:A	R79S	0.968
6:30622845:T:C	L123S	0.967
6:30619957:T:A	C108S	0.966
6:30619958:G:C	C108S	0.966
6:30624888:T:C	C143R	0.966
6:30619711:T:G	Y64D	0.964
6:30619961:G:C	R109P	0.963
6:30619587:A:C	Y58S	0.961
6:30619595:T:C	S61P	0.961
6:30619712:A:C	Y64S	0.961
6:30619587:A:G	Y58C	0.960

dbSNP variants (sampled 300 via entrez): RS1000048094 (6:30626582 C>T), RS1000442325 (6:30616660 C>A,T), RS1000473154 (6:30616508 G>A), RS1000655568 (6:30621065 C>A,T), RS1000967267 (6:30617785 G>C,T), RS1001627477 (6:30626171 A>C,G,T), RS1001683130 (6:30620044 G>A), RS1001814458 (6:30624216 C>G), RS1001819995 (6:30620368 G>A), RS1002067532 (6:30619090 G>A,C,T), RS1002088324 (6:30622230 A>T), RS1002416888 (6:30618809 C>T), RS1002572184 (6:30621968 T>C), RS1002757562 (6:30619463 A>G), RS1002830051 (6:30619221 C>G)

Disease associations

OMIM: gene MIM:611982 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_121	Autism spectrum disorder or schizophrenia	3.000000e-13
GCST004521_132	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_2	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_210	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_269	Autism spectrum disorder or schizophrenia	7.000000e-11
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_3	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_79	Autism spectrum disorder or schizophrenia	1.000000e-16
GCST008161_15	Waist circumference adjusted for body mass index	5.000000e-06
GCST011053_2	Neuroblastoma (pediatric)	4.000000e-18

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067441 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects cotreatment, decreases expression	3
bisphenol F	increases expression, affects cotreatment	2
sodium arsenite	decreases expression, increases expression	2
Tunicamycin	increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
trichostatin A	affects expression	1
potassium chromate(VI)	increases expression	1
nickel sulfate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	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
bisphenol B	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Mustard Gas	increases expression	1
Ribonucleotides	affects binding	1
Dronabinol	decreases expression	1
Thiram	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652929	Binding	Binding affinity to human MRPS18B incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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