MRPS27

Summary

MRPS27 (mitochondrial ribosomal protein S27, HGNC:14512) is a protein-coding gene on chromosome 5q13.2, encoding Small ribosomal subunit protein mS27 (Q92552). RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis. It is a selective cancer dependency (DepMap: 50.5% 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 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 23107 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 82 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 50.5% of screened cell lines
• MANE Select transcript: NM_015084

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14512
Approved symbol	MRPS27
Name	mitochondrial ribosomal protein S27
Location	5q13.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0264, mS27
Ensembl gene	ENSG00000113048
Ensembl biotype	protein_coding
OMIM	611989
Entrez	23107

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 19 protein_coding, 8 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 3 retained_intron

ENST00000261413, ENST00000457646, ENST00000506957, ENST00000508863, ENST00000513900, ENST00000515226, ENST00000515404, ENST00000519143, ENST00000519874, ENST00000520285, ENST00000522042, ENST00000522095, ENST00000522404, ENST00000522562, ENST00000522585, ENST00000523654, ENST00000694989, ENST00000694990, ENST00000694991, ENST00000694992, ENST00000694993, ENST00000694994, ENST00000694995, ENST00000694996, ENST00000694997, ENST00000694998, ENST00000695000, ENST00000695001, ENST00000695297, ENST00000695298, ENST00000695403, ENST00000695404, ENST00000926538, ENST00000953797

RefSeq mRNA: 3 — MANE Select: NM_015084 NM_001286748, NM_001286751, NM_015084

CCDS: CCDS4013, CCDS68890, CCDS75257

Canonical transcript exons

ENST00000261413 — 11 exons

Exon	Start	End
ENSE00001927754	72320149	72320240
ENSE00003492613	72297632	72297702
ENSE00003494554	72223683	72223850
ENSE00003507460	72234119	72234197
ENSE00003541754	72228266	72228368
ENSE00003579025	72226057	72226199
ENSE00003591434	72238014	72238128
ENSE00003592952	72295531	72295589
ENSE00003618953	72232443	72232558
ENSE00003654856	72314081	72314158
ENSE00003963647	72219403	72221148

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 94.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 62.2866 / max 1187.4336, expressed in 1814 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62036	59.2501	1809
62035	1.7817	1054
62034	1.2548	716

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
heart left ventricle	UBERON:0002084	94.44	gold quality
cardiac ventricle	UBERON:0002082	94.36	gold quality
calcaneal tendon	UBERON:0003701	94.36	gold quality
apex of heart	UBERON:0002098	94.16	gold quality
muscle of leg	UBERON:0001383	94.14	gold quality
gastrocnemius	UBERON:0001388	94.09	gold quality
right adrenal gland	UBERON:0001233	94.08	gold quality
right adrenal gland cortex	UBERON:0035827	94.05	gold quality
heart	UBERON:0000948	93.64	gold quality
adrenal tissue	UBERON:0018303	93.49	gold quality
cortical plate	UBERON:0005343	93.39	gold quality
skeletal muscle organ	UBERON:0014892	93.36	gold quality
muscle organ	UBERON:0001630	93.35	gold quality
rectum	UBERON:0001052	93.34	gold quality
right atrium auricular region	UBERON:0006631	93.32	gold quality
cardiac atrium	UBERON:0002081	93.28	gold quality
left adrenal gland	UBERON:0001234	93.25	gold quality
body of tongue	UBERON:0011876	93.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.18	gold quality
right ovary	UBERON:0002118	93.15	gold quality
embryo	UBERON:0000922	93.10	gold quality
left ventricle myocardium	UBERON:0006566	92.89	gold quality
adrenal cortex	UBERON:0001235	92.87	gold quality
adrenal gland	UBERON:0002369	92.87	gold quality
left adrenal gland cortex	UBERON:0035825	92.86	gold quality
left ovary	UBERON:0002119	92.85	gold quality
ventricular zone	UBERON:0003053	92.83	gold quality
islet of Langerhans	UBERON:0000006	92.79	gold quality
ovary	UBERON:0000992	92.69	gold quality
mucosa of stomach	UBERON:0001199	92.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.19
E-ENAD-17	no	1013.75
E-CURD-112	no	3.70

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR

miRNA regulators (miRDB)

60 targeting MRPS27, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-302B-5P	99.50	69.49	1857

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 50.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• MRPS27 is required for mitochondrial protein synthesis (PMID:22841715)
• we verified for the first time that mitochondrial ribosomal protein S23 expression was upregulated in hepatocellular carcinoma. High mitochondrial ribosomal protein S23 levels can predict poor clinical outcomes in hepatocellular carcinoma, and this protein plays a key role in tumor proliferation. Therefore, mitochondrial ribosomal protein S23 may be a potential therapeutic target for hepatocellular carcinoma. (PMID:28714366)
• The value of RPS15 and MRPS27 in ischemic stroke. (PMID:37603533)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps27	ENSDARG00000059234
mus_musculus	Mrps27	ENSMUSG00000041632
rattus_norvegicus	Mrps27	ENSRNOG00000017272
drosophila_melanogaster	CG4882	FBGN0025336
caenorhabditis_elegans	mrps-27	WBGENE00010766

Protein

Protein identifiers

Small ribosomal subunit protein mS27 — Q92552 (reviewed: Q92552)

Alternative names: 28S ribosomal protein S27, mitochondrial, Mitochondrial ribosomal protein S27

All UniProt accessions (16): A0A8Q3SHR4, A0A8Q3WK82, A0A8Q3WK88, A0A8Q3WKF1, A0A8Q3WKH0, A0A8Q3WKI2, A0A8Q3WKI8, A0A8Q3WKM3, A0A8Q3WKS8, Q92552, A0A8Q3WKZ8, A0A8Q3WL16, A0A8Q3WLL6, A0A8Q3WLW2, D6RH20, G5EA06

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis. Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain. Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu). Involved also in positive regulation of cell proliferation and tumor cell growth.

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. Interacts with NOA1. Interacts with MIEF1 upstream open reading frame protein. Interacts with METTL17.

Subcellular location. Cytoplasm. Mitochondrion.

Tissue specificity. Overexpressed in hepatocellular carcinoma tissues compared with adjacent non-tumoral liver tissues (at protein level). Ubiquitous.

Similarity. Belongs to the mitochondrion-specific ribosomal protein mS27 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92552-1	1	yes
Q92552-2	2

RefSeq proteins (3): NP_001273677, NP_001273680, NP_055899* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002885	PPR_rpt	Repeat
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019266	Ribosomal_mS27	Family
IPR034913	mS27/PTCD2	Family

Pfam: PF10037

UniProt features (27 total): helix 19, repeat 2, transit peptide 1, chain 1, strand 1, coiled-coil region 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-Q92552-F1	80.81	0.38

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: 145 (showing top): MORF_DNMT1, GOBP_MITOCHONDRIAL_TRANSLATION, MORF_HDAC2, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MORF_BUB3, MORF_RFC4, MORF_PRKDC, GOCC_MITOCHONDRIAL_ENVELOPE, ZHAN_V1_LATE_DIFFERENTIATION_GENES_DN, SCHLOSSER_SERUM_RESPONSE_DN, CAIRO_HEPATOBLASTOMA_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, CUI_TCF21_TARGETS_2_UP

GO Biological Process (3): regulation of translation (GO:0006417), cell population proliferation (GO:0008283), mitochondrial translation (GO:0032543)

GO Molecular Function (4): tRNA binding (GO:0000049), rRNA binding (GO:0019843), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (7): nucleolus (GO:0005730), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), 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
translation	2
RNA binding	2
intracellular membraneless organelle	2
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
cellular process	1
mitochondrion	1
mitochondrial gene expression	1
nucleic acid binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cellular anatomical structure	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
protein-containing complex	1

Protein interactions and networks

STRING

1466 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS27	MRPS10	P82664	724
MRPS27	DAP3	P51398	709
MRPS27	MRPS30	Q9NP92	690
MRPS27	MRPS2	Q9Y399	654
MRPS27	MRPS5	P82675	652
MRPS27	PTCD1	O75127	632
MRPS27	MRPS14	O60783	632
MRPS27	PTCD3	Q96EY7	623
MRPS27	MRPS25	P82663	614
MRPS27	MRPL38	Q96DV4	608
MRPS27	MRPS18B	Q9Y676	605
MRPS27	MRPL11	Q9Y3B7	601
MRPS27	PTCD2	Q8WV60	595
MRPS27	MRPL44	Q9H9J2	591
MRPS27	MRPL58	Q14197	591

IntAct

222 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
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
MRPS27	MRPS15	psi-mi:“MI:0915”(physical association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
rep	MPHOSPH10	psi-mi:“MI:0914”(association)	0.660
MRPS27	MRPS14	psi-mi:“MI:0914”(association)	0.640
ESR1	TRIM24	psi-mi:“MI:0914”(association)	0.640
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
MRPS6	STAT5A	psi-mi:“MI:0914”(association)	0.550
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
MRPS24	ZZEF1	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
DAP3	PNMA6A	psi-mi:“MI:0914”(association)	0.530
MRPS18B	MRPS14	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	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
PDGFB	DKC1	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
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPS34	MRPS12	psi-mi:“MI:0914”(association)	0.530

BioGRID (492): NECAB2 (Two-hybrid), MRPS27 (Affinity Capture-RNA), MRPS27 (Affinity Capture-RNA), MRPS27 (Affinity Capture-MS), MRPS27 (Affinity Capture-MS), MRPS27 (Affinity Capture-MS), MRPS27 (Affinity Capture-MS), MRPS27 (Affinity Capture-MS), MRPS27 (Affinity Capture-MS), RPS8 (Affinity Capture-MS), DNAJC1 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), MRPS27 (Affinity Capture-MS), MRPS27 (Affinity Capture-MS), MRPS27 (Affinity Capture-MS)

ESM2 similar proteins: A1A5P5, A1L2L5, A1Z9A8, B5DF07, O15091, P42704, Q07DV3, Q08CK1, Q0IHP3, Q14C51, Q14CX7, Q14CZ7, Q28C74, Q28DE0, Q2KI62, Q32LU7, Q32N55, Q32PI8, Q3SZ55, Q4R366, Q4R6I5, Q53R41, Q566X6, Q58CX2, Q5R503, Q5R8W8, Q5RFI6, Q5SGE0, Q5XIR8, Q5ZKK3, Q5ZLS8, Q68FN9, Q6AYP3, Q6DI86, Q6GQ66, Q6PB66, Q6QI44, Q7L8L6, Q7TMV3, Q7Z3E5

Diamond homologs: Q32PI8, Q8BK72, Q92552

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS27	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 223 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	26	25.0×	6e-28
Mitochondrial translation initiation	28	24.9×	1e-29
Mitochondrial translation elongation	28	24.9×	1e-29
Mitochondrial ribosome-associated quality control	28	24.0×	2e-29
Mitochondrial translation termination	28	21.5×	5e-28
Translation	32	13.9×	6e-26
Eukaryotic Translation Initiation	5	10.8×	3e-03
Cap-dependent Translation Initiation	5	10.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	30	25.8×	2e-31
translation	21	10.7×	4e-13
ribosomal small subunit biogenesis	9	10.2×	1e-04
negative regulation of translation	9	8.7×	3e-04
cytoplasmic translation	8	7.3×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2368 predictions. Top by Δscore:

Variant	Effect	Δscore
5:72221743:C:A	donor_gain	1.0000
5:72223678:TTCA:T	donor_loss	1.0000
5:72223679:TCACC:T	donor_loss	1.0000
5:72223680:CA:C	donor_loss	1.0000
5:72223681:A:T	donor_loss	1.0000
5:72223682:C:CA	donor_loss	1.0000
5:72223693:T:A	donor_gain	1.0000
5:72223846:TCGAG:T	acceptor_gain	1.0000
5:72223847:CGAG:C	acceptor_gain	1.0000
5:72223847:CGAGC:C	acceptor_gain	1.0000
5:72226032:ACTG:A	donor_gain	1.0000
5:72226033:CTGC:C	donor_gain	1.0000
5:72226055:A:AC	donor_gain	1.0000
5:72226056:C:CC	donor_gain	1.0000
5:72226056:CCG:C	donor_gain	1.0000
5:72226071:G:C	donor_gain	1.0000
5:72232442:CA:C	donor_gain	1.0000
5:72232569:A:AC	acceptor_gain	1.0000
5:72232569:A:C	acceptor_gain	1.0000
5:72234113:TCTTA:T	donor_loss	1.0000
5:72234114:CTTA:C	donor_loss	1.0000
5:72234115:TTAC:T	donor_loss	1.0000
5:72234116:TA:T	donor_loss	1.0000
5:72234118:C:CG	donor_loss	1.0000
5:72234195:AACCT:A	acceptor_loss	1.0000
5:72234198:CTATA:C	acceptor_loss	1.0000
5:72238009:CTCA:C	donor_loss	1.0000
5:72238010:TCA:T	donor_loss	1.0000
5:72238011:CACCT:C	donor_loss	1.0000
5:72238012:A:AT	donor_loss	1.0000

AlphaMissense

2699 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:72238076:A:G	W112R	0.995
5:72238076:A:T	W112R	0.995
5:72228294:A:C	S222R	0.991
5:72228294:A:T	S222R	0.991
5:72228296:T:G	S222R	0.991
5:72238064:A:G	C116R	0.988
5:72238125:A:C	F95L	0.987
5:72238125:A:T	F95L	0.987
5:72238127:A:G	F95L	0.987
5:72297654:A:T	V67D	0.987
5:72238116:G:C	S98R	0.985
5:72238116:G:T	S98R	0.985
5:72238118:T:G	S98R	0.985
5:72228280:C:T	G227D	0.984
5:72238123:C:G	R96P	0.984
5:72228346:C:T	G205D	0.983
5:72234159:A:C	N145K	0.983
5:72234159:A:T	N145K	0.983
5:72234154:A:G	L147P	0.982
5:72228337:A:G	L208P	0.981
5:72238091:A:G	W107R	0.981
5:72238091:A:T	W107R	0.981
5:72238036:G:T	A125D	0.980
5:72238062:A:C	C116W	0.980
5:72297650:A:C	S68R	0.980
5:72297650:A:T	S68R	0.980
5:72297652:T:G	S68R	0.980
5:72295537:A:G	L92P	0.975
5:72314112:C:A	W40C	0.973
5:72314112:C:G	W40C	0.973

dbSNP variants (sampled 300 via entrez): RS1000000986 (5:72236465 G>A), RS1000043765 (5:72226883 G>A,T), RS1000078953 (5:72285818 C>T), RS1000080388 (5:72277985 T>C), RS1000105528 (5:72235519 G>A), RS1000145706 (5:72272989 A>G), RS1000157582 (5:72242468 A>C,T), RS1000181315 (5:72245061 G>T), RS1000201124 (5:72263022 T>G), RS1000236339 (5:72284886 T>C), RS1000253776 (5:72234040 G>A,C,T), RS1000259274 (5:72279548 G>A,C), RS1000273362 (5:72242033 T>G), RS1000291004 (5:72242478 C>G), RS1000338044 (5:72248797 A>G)

Disease associations

OMIM: gene MIM:611989 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_30	Refractive error	1.000000e-12

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066440 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.00	Kd	99.01	nM	CHEMBL3752910
7.00	ED50	99.01	nM	CHEMBL3752910
6.08	Kd	835.1	nM	CHEMBL5653589
6.08	ED50	835.1	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148779: Binding affinity to human MRPS27 incubated for 45 mins by Kinobead based pull down assay	kd	0.0990	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148779: Binding affinity to human MRPS27 incubated for 45 mins by Kinobead based pull down assay	kd	0.8351	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects cotreatment, decreases expression	3
Ozone	affects cotreatment, increases oxidation, increases abundance, affects expression	3
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Air Pollutants	affects expression, affects cotreatment, increases abundance, increases oxidation	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
lead acetate	decreases expression	1
sodium arsenite	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases 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
Cadmium	increases abundance, increases expression	1
Cisplatin	affects response to substance	1
Coumestrol	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases 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
CHEMBL5651821	Binding	Binding affinity to human MRPS27 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.