RPLP2

Summary

RPLP2 (ribosomal protein lateral stalk subunit P2, HGNC:10377) is a protein-coding gene on chromosome 11p15.5, encoding Large ribosomal subunit protein P2 (P05387). Plays an important role in the elongation step of protein synthesis. It is a common-essential gene (DepMap: required in 99.2% of cancer cell lines).

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6181 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 26 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 99.2% of screened cell lines (common-essential)
• MANE Select transcript: NM_001004

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10377
Approved symbol	RPLP2
Name	ribosomal protein lateral stalk subunit P2
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	P2, RPP2, MGC71408, LP2
Ensembl gene	ENSG00000177600
Ensembl biotype	protein_coding
OMIM	180530
Entrez	6181

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 20 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000321153, ENST00000524867, ENST00000525722, ENST00000526222, ENST00000527517, ENST00000530398, ENST00000530797, ENST00000532004, ENST00000718237, ENST00000852318, ENST00000852319, ENST00000852320, ENST00000929541, ENST00000929542, ENST00000929543, ENST00000929544, ENST00000929545, ENST00000929546, ENST00000929547, ENST00000929548, ENST00000929549, ENST00000929550, ENST00000929551, ENST00000960563, ENST00000960564

RefSeq mRNA: 1 — MANE Select: NM_001004 NM_001004

CCDS: CCDS7717

Canonical transcript exons

ENST00000321153 — 5 exons

Exon	Start	End
ENSE00001296345	810234	810357
ENSE00001318871	809967	810039
ENSE00003535968	812535	812633
ENSE00003564145	811597	811645
ENSE00004034474	812760	812876

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2989.6836 / max 38067.9514, expressed in 1828 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112263	2985.7068	1828
112264	2.3553	1170
112266	1.3162	615
112262	0.3053	98

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nipple	UBERON:0002030	99.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.95	gold quality
skin of hip	UBERON:0001554	99.95	gold quality
tendon of biceps brachii	UBERON:0008188	99.95	gold quality
superficial temporal artery	UBERON:0001614	99.94	gold quality
peritoneum	UBERON:0002358	99.94	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.94	gold quality
lower lobe of lung	UBERON:0008949	99.94	gold quality
omental fat pad	UBERON:0010414	99.94	gold quality
granulocyte	CL:0000094	99.93	gold quality
urethra	UBERON:0000057	99.93	gold quality
pericardium	UBERON:0002407	99.93	gold quality
pylorus	UBERON:0001166	99.92	gold quality
right ovary	UBERON:0002118	99.92	gold quality
left ovary	UBERON:0002119	99.92	gold quality
thymus	UBERON:0002370	99.92	gold quality
upper leg skin	UBERON:0004262	99.92	gold quality
upper arm skin	UBERON:0004263	99.92	gold quality
zone of skin	UBERON:0000014	99.91	gold quality
endocervix	UBERON:0000458	99.91	gold quality
penis	UBERON:0000989	99.91	gold quality
mammalian vulva	UBERON:0000997	99.91	gold quality
left uterine tube	UBERON:0001303	99.91	gold quality
skin of abdomen	UBERON:0001416	99.91	gold quality
skin of leg	UBERON:0001511	99.91	gold quality
spleen	UBERON:0002106	99.91	gold quality
synovial joint	UBERON:0002217	99.91	gold quality
trachea	UBERON:0003126	99.91	gold quality
tendon	UBERON:0000043	99.90	gold quality
ovary	UBERON:0000992	99.90	gold quality

Single-cell (SCXA)

Detected in 43 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	11486.83
E-MTAB-10042	yes	5619.02
E-MTAB-7316	yes	4887.25
E-MTAB-6819	yes	1343.37
E-MTAB-4850	yes	880.24
E-CURD-122	yes	98.94
E-MTAB-9221	yes	55.43
E-MTAB-6678	yes	41.05
E-HCAD-31	yes	21.14
E-HCAD-35	yes	18.50
E-GEOD-137537	yes	6.07
E-HCAD-25	yes	4.84
E-MTAB-6653	no	13647.05
E-GEOD-139324	no	12711.01
E-MTAB-10432	no	12683.32

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.2% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 17)

• Ribosomal protein P2 has been identified as a novel substrate of GRK2 in HEK-293 cells where P2 phosphorylation is increased following agonist stimulation of the beta 2-adrenergic receptor under conditions of tyrosine kinase PKC and PKA inhibition. (PMID:12379128)
• the P1 and P2 proteins are not actively transported into the nucleus compartment, remaining predominantly in the cytoplasm (the perinuclear compartment). (PMID:12479870)
• Antisense-mediated depletion may disrupt the proteome of cancer cells. (PMID:14981896)
• Distinct roles for CD39 and P2-purinergic signaling in both tissue remodeling and fibrogenesis with respect to human pancreatic diseases. (PMID:16920697)
• Data indicate that P1/P2 proteins modulate cytoplasmic translation by influencing the interaction between subunits, thereby regulating the rate of cell proliferation. (PMID:18422483)
• These results support the hypothesis that at least some of the changes in the profile of newly synthesized proteins detected in cells deprived of P1 and P2 proteins might be due to an effect on the efficiency of cap-independent translation. (PMID:18675807)
• the eukaryotic stalk protein P2 forms a symmetric homodimer in solution, and is structurally distinct from the bacterial counterpart L12 homodimer. (PMID:20385603)
• P proteins are up-regulated in a considerable number of patients with the most common types of cancer. (PMID:21040949)
• relevance of the observed cross-reactive IgE autoantibodies against P2 proteins in systemic lupus eryth remains to be elucidated (PMID:21410706)
• Data show that ricin A-chain (RTA) interacts directly with recombinant P1-P2 dimer, indicating the importance of P1 and P2 in enabling RTA to bind and depurinate ribosomes. (PMID:22909382)
• Evaluated autoantibodies against native ribosomal P complex and recombinant ribosomal P proteins (anti-Rib-P0, anti-Rib-P1, anti-Rib-P2) for prevalence, diagnostic relevance&clinical associations in a Chinese cohort with systemic lupus erythematosus. (PMID:23400861)
• Results show that the conserved C-terminal segment of P2 from three different eukaryotic species- Human, Plasmodium falciparum and Toxoplasma gondii is intrinsically disordered. (PMID:25412900)
• absence of RPLP0, RPLP1, or RPLP2 resulted in reactive oxygen species (ROS) accumulation and MAPK1/ERK2 signaling pathway activation. (PMID:26176264)
• Collectively, the present results suggest that PhoRpp21 binds the loop between P11 and P12 helices through overall positively charged clusters on the surface of the complex and serves as a scaffold for PhoRpp29 to optimize structural conformation of its N-terminal helix (alpha2) in PhoRpp21, as well as C-terminal residues in PhoRpp29, for RNase P activity. (PMID:27810361)
• A three-gene signature and clinical outcome in pediatric acute myeloid leukemia. (PMID:32862280)
• Ribosomal stalk proteins RPLP1 and RPLP2 promote biogenesis of flaviviral and cellular multi-pass transmembrane proteins. (PMID:32890404)
• Phosphorylation of the conserved C-terminal domain of ribosomal P-proteins impairs the mode of interaction with plant toxins. (PMID:34328639)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	rplp2l	ENSDARG00000011201
mus_musculus	Rplp2	ENSMUSG00000025508
mus_musculus	Rplp2-ps1	ENSMUSG00000118552
rattus_norvegicus	Rplp2l3	ENSRNOG00000031052
rattus_norvegicus	Rplp2l2	ENSRNOG00000038074
rattus_norvegicus	Rplp2	ENSRNOG00000068445
drosophila_melanogaster	RpLP2	FBGN0003274
caenorhabditis_elegans	C37A2.7	WBGENE00016493

Paralogs (2): RPLP0 (ENSG00000089157), RPLP1 (ENSG00000137818)

Protein

Protein identifiers

Large ribosomal subunit protein P2 — P05387 (reviewed: P05387)

Alternative names: 60S acidic ribosomal protein P2, Renal carcinoma antigen NY-REN-44

All UniProt accessions (2): P05387, H0YDD8

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the elongation step of protein synthesis.

Subunit / interactions. Heterodimer with P1 at the lateral ribosomal stalk of the large ribosomal subunit.

Similarity. Belongs to the eukaryotic ribosomal protein P1/P2 family.

RefSeq proteins (1): NP_000995* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027534	Ribosomal_P1/P2	Family
IPR038716	P1/P2_N_sf	Homologous_superfamily
IPR044076	Ribosomal_P2_euk	Family

Pfam: PF00428

UniProt features (23 total): modified residue 9, helix 5, strand 3, turn 2, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
5DDZ	X-RAY DIFFRACTION	1.5
5GU4	X-RAY DIFFRACTION	1.55
2JDL	X-RAY DIFFRACTION	2.2
4V6X	ELECTRON MICROSCOPY	5
1S4J	SOLUTION NMR
2LBF	SOLUTION NMR
2W1O	SOLUTION NMR
4BEH	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05387-F1	69.32	0.23

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 (9): 86, 102, 105, 1, 17, 19, 21, 21, 79

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-156827	L13a-mediated translational silencing of Ceruloplasmin expression
R-HSA-156902	Peptide chain elongation
R-HSA-1799339	SRP-dependent cotranslational protein targeting to membrane
R-HSA-192823	Viral mRNA Translation
R-HSA-2408557	Selenocysteine synthesis
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72764	Eukaryotic Translation Termination
R-HSA-9010553	Regulation of expression of SLITs and ROBOs
R-HSA-9633012	Response of EIF2AK4 (GCN2) to amino acid deficiency
R-HSA-975956	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
R-HSA-9954714	PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA
R-HSA-9954716	ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA

MSigDB gene sets: 257 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_UBE2I, MODULE_150, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, GOBP_MALE_GAMETE_GENERATION, MODULE_503, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MODULE_195, GOBP_MUSCLE_CONTRACTION, MORF_CCNI, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (4): cytoplasmic translation (GO:0002181), cytoplasmic translational elongation (GO:0002182), translation (GO:0006412), translational elongation (GO:0006414)

GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), focal adhesion (GO:0005925), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), extracellular exosome (GO:0070062), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Ribosome-associated quality control	3
Translation	2
Cap-dependent Translation Initiation	2
Nonsense-Mediated Decay (NMD)	2
Eukaryotic Translation Initiation	1
Eukaryotic Translation Elongation	1
Influenza Viral RNA Transcription and Replication	1
Selenoamino acid metabolism	1
rRNA processing in the nucleus and cytosol	1
Signaling by ROBO receptors	1
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
translation	2
translational elongation	2
macromolecule biosynthetic process	2
cytoplasmic translation	1
peptidyltransferase activity	1
translational initiation	1
translational termination	1
protein metabolic process	1
protein biosynthetic process	1
structural molecule activity	1
ribosome	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
cell-substrate junction	1
large ribosomal subunit	1
cytosolic ribosome	1
extracellular vesicle	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

2936 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPLP2	RPLP1	P05386	942
RPLP2	RPLP0	P05388	941
RPLP2	RPL18A	Q02543	710
RPLP2	RPL11	P25121	697
RPLP2	RPL7	P18124	645
RPLP2	RPS15	P11174	604
RPLP2	RPL4	P36578	603
RPLP2	PSMD8	P48556	586
RPLP2	RPL8	P25120	586
RPLP2	RPS3	P23396	584
RPLP2	RPS19	P39019	572
RPLP2	RPL19	P14118	570
RPLP2	RPL9	P32969	564
RPLP2	RPS25	P25111	562
RPLP2	RPL38	P23411	557

IntAct

282 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
RPLP1	RPLP2	psi-mi:“MI:0407”(direct interaction)	0.560
RPLP0	RPLP1	psi-mi:“MI:0915”(physical association)	0.560
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MAGEB10	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL8	RRP8	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
PPP2R2B	DDX3X	psi-mi:“MI:0914”(association)	0.460
FUS	DDX3X	psi-mi:“MI:0914”(association)	0.430
SUPT20H	RPLP2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (545): RPLP2 (Affinity Capture-MS), RPLP2 (Affinity Capture-MS), DDX24 (Co-fractionation), HNRNPU (Co-fractionation), MRPS21 (Co-fractionation), RPL10 (Co-fractionation), RPL10A (Co-fractionation), RPL11 (Co-fractionation), RPL12 (Co-fractionation), RPL14 (Co-fractionation), RPL15 (Co-fractionation), RPL18A (Co-fractionation), RPL23A (Co-fractionation), RPL27A (Co-fractionation), RPL31 (Co-fractionation)

ESM2 similar proteins: A1XQU7, H2E5X2, O01725, O14317, O24415, O52706, O61463, P02399, P02400, P02401, P02402, P05319, P05386, P05387, P05389, P08094, P08570, P10622, P17476, P17477, P17478, P18660, P19944, P42037, P42039, P42899, P46252, P47955, P49148, P50344, P52855, P54048, P91913, P99027, Q29315, Q49KL9, Q56K14, Q5ZLF0, Q6X9Z5, Q8LCW9

Diamond homologs: O00806, O01504, O01725, O14317, O24415, O44010, O61463, P02399, P02400, P02401, P05319, P05387, P05389, P05390, P08094, P17478, P19943, P27055, P41099, P42037, P42039, P42899, P46252, P50879, P51407, P90703, P99027, Q29315, Q6X9Z5, Q8TFM9, Q967Y9, Q96UQ7, Q9C3Z5, Q9GPU2, Q9HFQ4, Q9HFQ5, Q9LH85, Q9LUK2, Q9LXM8, Q9SLF7

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
GRK2	up-regulates	RPLP2	phosphorylation
RPLP2	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 214 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
TRAF6 mediated NF-kB activation	5	14.5×	1e-03
SRP-dependent cotranslational protein targeting to membrane	21	13.3×	3e-15
Eukaryotic Translation Termination	16	12.2×	3e-11
GTP hydrolysis and joining of the 60S ribosomal subunit	19	12.1×	5e-13
Formation of a pool of free 40S subunits	17	12.1×	8e-12
Peptide chain elongation	15	12.1×	1e-10
Viral mRNA Translation	15	12.1×	1e-10
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	16	11.9×	4e-11

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	18	17.1×	2e-14
stress granule assembly	5	15.4×	2e-03
mitophagy	7	11.4×	6e-04
ribosomal large subunit biogenesis	5	11.4×	7e-03
translational initiation	6	11.0×	2e-03
intrinsic apoptotic signaling pathway	6	11.0×	2e-03
translation	18	9.5×	4e-10
negative regulation of translation	8	8.0×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3150 predictions. Top by Δscore:

Variant	Effect	Δscore
11:799809:CCTCA:C	donor_loss	1.0000
11:799810:CTCA:C	donor_loss	1.0000
11:799811:TCACC:T	donor_loss	1.0000
11:799812:CA:C	donor_loss	1.0000
11:799813:A:AC	donor_gain	1.0000
11:799814:C:CC	donor_gain	1.0000
11:800010:AGTCT:A	acceptor_gain	1.0000
11:800011:GTCT:G	acceptor_gain	1.0000
11:800012:TCTC:T	acceptor_loss	1.0000
11:800013:CT:C	acceptor_gain	1.0000
11:800014:TCTGT:T	acceptor_loss	1.0000
11:800015:C:CC	acceptor_gain	1.0000
11:800018:T:C	acceptor_gain	1.0000
11:800018:T:TC	acceptor_gain	1.0000
11:800118:C:CA	donor_gain	1.0000
11:800123:AGTC:A	donor_gain	1.0000
11:800136:G:C	donor_gain	1.0000
11:800178:T:TA	donor_gain	1.0000
11:800322:C:A	donor_gain	1.0000
11:800343:ACAG:A	donor_gain	1.0000
11:800344:CAGC:C	donor_gain	1.0000
11:800345:AG:A	donor_gain	1.0000
11:800346:G:GA	donor_gain	1.0000
11:800452:C:CC	acceptor_gain	1.0000
11:800537:CCCTA:C	donor_loss	1.0000
11:800538:CCTA:C	donor_loss	1.0000
11:800539:CTA:C	donor_loss	1.0000
11:800540:TAC:T	donor_loss	1.0000
11:800541:A:AC	donor_gain	1.0000
11:800541:A:T	donor_loss	1.0000

AlphaMissense

748 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:812828:T:C	F114L	1.000
11:812830:T:A	F114L	1.000
11:812830:T:G	F114L	1.000
11:810257:T:C	L8P	0.999
11:811610:T:C	L46P	0.999
11:811645:G:C	G58R	0.999
11:812826:T:A	L113H	0.999
11:810248:C:A	A5D	0.998
11:810260:T:C	L9P	0.998
11:810262:G:C	A10P	0.998
11:812535:G:A	G58D	0.998
11:812816:G:A	G110R	0.998
11:812816:G:C	G110R	0.998
11:812828:T:A	F114I	0.998
11:812829:T:G	F114C	0.998
11:810263:C:A	A10D	0.997
11:810271:G:T	G13W	0.997
11:810272:G:A	G13E	0.997
11:810350:T:C	L39P	0.997
11:811598:T:A	V42D	0.997
11:812828:T:G	F114V	0.997
11:810260:T:A	L9Q	0.996
11:810265:G:C	A11P	0.996
11:810311:T:G	I26S	0.996
11:810314:T:C	L27S	0.996
11:811645:G:T	G58C	0.996
11:812535:G:T	G58V	0.996
11:812810:G:C	D108H	0.996
11:812826:T:C	L113P	0.996
11:812829:T:C	F114S	0.996

dbSNP variants (sampled 300 via entrez): RS1000118985 (11:811147 A>G), RS1000267176 (11:809693 G>A,C), RS1000272107 (11:811007 C>A,G), RS1000340319 (11:809521 T>G), RS1001051325 (11:810435 A>C), RS1001497843 (11:810207 C>T), RS1001550169 (11:810009 TCTCCGC>T), RS1001586172 (11:808997 C>G,T), RS1001911950 (11:809957 T>C), RS1002089794 (11:813189 C>G,T), RS1002554709 (11:811114 C>A,G), RS1003069854 (11:812212 G>A), RS1003542136 (11:812145 C>G,T), RS1003551882 (11:811955 G>A,C), RS1004720111 (11:808589 A>G,T)

Disease associations

OMIM: gene MIM:180530 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006412_116	Intraocular pressure	1.000000e-09
GCST90013442_17	Keratoconus	1.000000e-26

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295698 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.32	Kd	48.25	nM	CHEMBL5653589
7.32	ED50	48.25	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 3 total; 1 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149279: Binding affinity to human RPLP2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0483	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects expression	3
sodium arsenite	affects binding, decreases reaction, decreases expression, increases expression	2
Smoke	increases abundance, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases expression	2
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	affects sumoylation	1
glycidyl methacrylate	increases expression	1
sodium arsenate	decreases expression	1
titanium dioxide	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
coumarin	decreases phosphorylation	1
phenanthrene	decreases expression	1
N-benzyloxycarbonylprolylprolinal	increases expression	1
phenethyl isothiocyanate	affects binding	1
CD 437	decreases expression	1
chloropicrin	affects expression	1
perfluoro-n-nonanoic acid	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
pentabrominated diphenyl ether 100	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	increases expression	1
Atrazine	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4270810	Binding	Binding affinity to 60S acidic ribosomal protein P2 in human Hela cells lysates assessed as protein enrichment by measuring normalized heavy/light ratio at by nano-LC-ESIMS/MS analysis	Determination of Gymnemic Acid I as a Protein Biosynthesis Inhibitor Using Chemical Proteomics. — J Nat Prod

Clinical trials (associated diseases)

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