MRPL13

Summary

MRPL13 (mitochondrial ribosomal protein L13, HGNC:14278) is a protein-coding gene on chromosome 8q24.12, encoding Large ribosomal subunit protein uL13m (Q9BYD1). It is a selective cancer dependency (DepMap: 27.4% 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.

Source: NCBI Gene 28998 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 53 total
• Cancer dependency (DepMap): dependent in 27.4% of screened cell lines
• MANE Select transcript: NM_014078

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14278
Approved symbol	MRPL13
Name	mitochondrial ribosomal protein L13
Location	8q24.12
Locus type	gene with protein product
Status	Approved
Aliases	L13, RPL13, L13mt, RPML13, L13A, uL13m
Ensembl gene	ENSG00000172172
Ensembl biotype	protein_coding
OMIM	610200
Entrez	28998

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000306185, ENST00000518696, ENST00000518918, ENST00000520677, ENST00000521648, ENST00000522717, ENST00000613356, ENST00000862519, ENST00000932629, ENST00000932630

RefSeq mRNA: 1 — MANE Select: NM_014078 NM_014078

CCDS: CCDS6332

Canonical transcript exons

ENST00000306185 — 7 exons

Exon	Start	End
ENSE00001157949	120432030	120432123
ENSE00002097336	120445068	120445150
ENSE00003484214	120395437	120396125
ENSE00003500192	120443185	120443308
ENSE00003568402	120425306	120425366
ENSE00003680186	120419852	120419938
ENSE00003784971	120413991	120414112

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 97.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.9166 / max 624.9379, expressed in 1812 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94640	25.3877	1794
94639	23.2411	1796
94638	3.2796	1445
94641	2.0082	1006

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	97.20	gold quality
adrenal tissue	UBERON:0018303	96.15	gold quality
ganglionic eminence	UBERON:0004023	94.91	gold quality
ventricular zone	UBERON:0003053	94.66	gold quality
right adrenal gland	UBERON:0001233	94.24	gold quality
right adrenal gland cortex	UBERON:0035827	94.13	gold quality
islet of Langerhans	UBERON:0000006	94.07	gold quality
rectum	UBERON:0001052	94.00	gold quality
stromal cell of endometrium	CL:0002255	93.87	gold quality
left adrenal gland	UBERON:0001234	93.67	gold quality
left adrenal gland cortex	UBERON:0035825	93.62	gold quality
transverse colon	UBERON:0001157	93.11	gold quality
embryo	UBERON:0000922	93.00	gold quality
calcaneal tendon	UBERON:0003701	92.91	gold quality
adrenal gland	UBERON:0002369	92.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.78	gold quality
heart left ventricle	UBERON:0002084	92.74	gold quality
heart right ventricle	UBERON:0002080	92.72	gold quality
esophagus mucosa	UBERON:0002469	92.71	gold quality
adrenal cortex	UBERON:0001235	92.61	gold quality
cardiac ventricle	UBERON:0002082	92.54	gold quality
right lobe of liver	UBERON:0001114	92.52	gold quality
cortical plate	UBERON:0005343	92.50	gold quality
colonic mucosa	UBERON:0000317	92.43	gold quality
right atrium auricular region	UBERON:0006631	92.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.04	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.03	gold quality
heart	UBERON:0000948	91.87	gold quality
biceps brachii	UBERON:0001507	91.81	gold quality
large intestine	UBERON:0000059	91.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6819	no	584.24
E-HCAD-31	no	2.22
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting MRPL13, 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-4795-3P	100.00	74.62	4024
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-182-3P	99.57	67.57	825
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-218-2-3P	98.08	67.21	601
HSA-MIR-3137	97.26	66.78	761
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-764	94.16	64.85	656

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 27.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• DAPK-ZIPK-L13a axis forms a unique regulatory module that first represses, then repermits inflammatory gene expression. (PMID:18995835)
• the combination of elevated glycolysis and deficient MRPL13 activity was closely linked to CLN1-mediated tumor activity in human hepatoma cells (PMID:28978646)
• Identification of the Upregulation of MRPL13 as a Novel Prognostic Marker Associated with Overall Survival Time and Immunotherapy Response in Breast Cancer. (PMID:34868337)
• [High expression of MRPL13 promotes cell cycle progression and proliferation of gastric cancer cells by inhibiting p53 signaling to affect long-term prognosis]. (PMID:37814870)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrpl13	ENSDARG00000056903
mus_musculus	Mrpl13	ENSMUSG00000022370
rattus_norvegicus	Mrpl13	ENSRNOG00000004401
drosophila_melanogaster	mRpL13	FBGN0032720
caenorhabditis_elegans	mrpl-13	WBGENE00008769

Paralogs (1): RPL13A (ENSG00000142541)

Protein

Protein identifiers

Large ribosomal subunit protein uL13m — Q9BYD1 (reviewed: Q9BYD1)

Alternative names: 39S ribosomal protein L13, mitochondrial

All UniProt accessions (4): Q9BYD1, E5RFI2, E5RJI7, H0YAX3

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. Interacts with OXA1L.

Subcellular location. Mitochondrion.

Similarity. Belongs to the universal ribosomal protein uL13 family.

RefSeq proteins (1): NP_054797* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005822	Ribosomal_uL13	Family
IPR005823	Ribosomal_uL13_bact	Family
IPR023563	Ribosomal_uL13_CS	Conserved_site
IPR036899	Ribosomal_uL13_sf	Homologous_superfamily

Pfam: PF00572

UniProt features (24 total): strand 9, helix 9, turn 3, initiator methionine 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

72 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
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
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
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98
8QSJ	ELECTRON MICROSCOPY	3
9UWH	ELECTRON MICROSCOPY	3
5OOM	ELECTRON MICROSCOPY	3.03
8PK0	ELECTRON MICROSCOPY	3.03

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYD1-F1	93.14	0.80

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 (1): 2

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: 483 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_CYTOPLASMIC_TRANSLATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HORIUCHI_WTAP_TARGETS_DN, GRUETZMANN_PANCREATIC_CANCER_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, MODULE_151, MORF_UBE2I, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN

GO Biological Process (3): translation (GO:0006412), negative regulation of translation (GO:0017148), mitochondrial translation (GO:0032543)

GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Mitochondrial translation	4
Translation	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translation	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
regulation of translation	1
negative regulation of gene expression	1
negative regulation of protein metabolic process	1
mitochondrion	1
mitochondrial gene expression	1
nucleic acid binding	1
RNA binding	1
structural molecule activity	1
ribosome	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
organellar ribosome	1
mitochondrial matrix	1
organellar large ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

4938 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPL13	SYNCRIP	O60506	971
MRPL13	EPRS1	P07814	966
MRPL13	GAPDH	P00354	947
MRPL13	CP	P00450	865
MRPL13	ADAM8	P78325	825
MRPL13	PARS2	Q7L3T8	825
MRPL13	MRPL11	Q9Y3B7	773
MRPL13	EIF3J	O75822	771
MRPL13	MRPL21	Q7Z2W9	723
MRPL13	MRPL4	Q9BYD3	712
MRPL13	MRPL24	Q96A35	705
MRPL13	MRPS15	P82914	666
MRPL13	MRPL17	Q9NRX2	644
MRPL13	MRPS11	P82912	640
MRPL13	MRPL19	P49406	628

IntAct

133 interactions, top by confidence:

A	B	Type	Score
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
NDUFS3	NDUFS8	psi-mi:“MI:0914”(association)	0.730
MRPL37	HSPD1	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
ETFRF1	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
HTT	MRPL13	psi-mi:“MI:0915”(physical association)	0.560
TEFM	POLRMT	psi-mi:“MI:0914”(association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ZNF324B	ZNF316	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
MRPL10	ZZEF1	psi-mi:“MI:0914”(association)	0.530
RPL7	ZBTB24	psi-mi:“MI:0914”(association)	0.530
MRPL42	GATC	psi-mi:“MI:0914”(association)	0.530
RPL6	MRPS14	psi-mi:“MI:0914”(association)	0.530
PDGFB	DKC1	psi-mi:“MI:0914”(association)	0.530
MRPL28	MRPL3	psi-mi:“MI:0914”(association)	0.530
MRPL41	MRPL3	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL27	MRPL33	psi-mi:“MI:0914”(association)	0.530
YBX1	HNRNPL	psi-mi:“MI:0914”(association)	0.530

BioGRID (327): MRPL13 (Affinity Capture-RNA), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), MRPL13 (Co-fractionation), MRPL13 (Co-fractionation)

ESM2 similar proteins: A0A5F9D2E6, A1XQU3, O13784, O42387, O43395, O59865, P02377, P12001, P16149, P21533, P35980, P47911, P62847, P62848, P62849, P62850, P69090, P69091, P82915, Q2HJ41, Q2KIA6, Q2YDN6, Q2YGT9, Q3T0U2, Q4R5H5, Q56JU9, Q58DQ3, Q5E973, Q5EAV6, Q5R5F1, Q5RAQ8, Q5REY4, Q5XGS8, Q5ZJ85, Q6Y263, Q8LC83, Q90YQ0, Q90YU3, Q922U1, Q943Z6

Diamond homologs: A0KT11, A0L480, A0LIV4, A0QKT3, A0R8L2, A1ATL1, A1WYS9, A3D8R4, A5FRV8, A5IMD1, A5IYP4, A5USF9, A5W8S1, A6Q5F7, A6WJ70, A7GK53, A7NR33, A9BHB6, A9L111, A9NEI3, A9VPB0, A9W605, A9WH96, B0C427, B0KFU8, B0TC91, B0UTU4, B1J1W8, B1LBJ2, B1YH84, B3DPZ9, B3E0U2, B3EA22, B3PMK1, B3QLF5, B5YDX6, B7GNE8, B7HJJ0, B7HQX7, B7ICN0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPL13	“form complex”	“39S mitochondrial large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 142 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	33	39.7×	4e-43
Mitochondrial translation	28	37.8×	5e-36
Mitochondrial translation initiation	30	37.3×	2e-38
Mitochondrial translation elongation	30	37.3×	2e-38
Mitochondrial translation termination	30	32.3×	3e-36
Translation	30	18.2×	3e-28
Peptide chain elongation	9	11.2×	5e-06
Viral mRNA Translation	9	11.2×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	32	43.8×	4e-42
translation	26	21.0×	9e-25
cytoplasmic translation	9	13.1×	7e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

922 predictions. Top by Δscore:

Variant	Effect	Δscore
8:120413983:ACACT:A	donor_loss	1.0000
8:120413984:CACTT:C	donor_loss	1.0000
8:120413985:ACTT:A	donor_loss	1.0000
8:120413986:CT:C	donor_loss	1.0000
8:120413987:TT:T	donor_loss	1.0000
8:120413988:TA:T	donor_loss	1.0000
8:120413989:A:AC	donor_gain	1.0000
8:120413989:ACG:A	donor_loss	1.0000
8:120413990:C:CT	donor_gain	1.0000
8:120413990:CG:C	donor_gain	1.0000
8:120413990:CGG:C	donor_gain	1.0000
8:120413990:CGGA:C	donor_gain	1.0000
8:120413990:CGGAG:C	donor_gain	1.0000
8:120414108:ATATA:A	acceptor_gain	1.0000
8:120414109:TATA:T	acceptor_gain	1.0000
8:120414110:ATA:A	acceptor_gain	1.0000
8:120414111:TA:T	acceptor_gain	1.0000
8:120414112:AC:A	acceptor_loss	1.0000
8:120414113:C:A	acceptor_loss	1.0000
8:120414113:C:CC	acceptor_gain	1.0000
8:120414118:T:TC	acceptor_gain	1.0000
8:120419849:TACCT:T	donor_loss	1.0000
8:120419851:C:CA	donor_loss	1.0000
8:120419935:CAAT:C	acceptor_gain	1.0000
8:120425304:A:AC	donor_gain	1.0000
8:120425304:ACTG:A	donor_gain	1.0000
8:120425304:ACTGC:A	donor_gain	1.0000
8:120425305:C:CA	donor_gain	1.0000
8:120425305:CTG:C	donor_gain	1.0000
8:120425305:CTGC:C	donor_gain	1.0000

AlphaMissense

1168 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:120425337:G:T	A92D	0.990
8:120432059:C:A	W72C	0.990
8:120432059:C:G	W72C	0.990
8:120443269:C:A	G23W	0.990
8:120425328:A:G	L95P	0.987
8:120432099:A:T	I59K	0.987
8:120432102:A:T	V58D	0.987
8:120443204:T:A	K44N	0.987
8:120443204:T:G	K44N	0.987
8:120443268:C:T	G23E	0.986
8:120432105:A:T	V57D	0.985
8:120432061:A:G	W72R	0.984
8:120432061:A:T	W72R	0.984
8:120443214:C:T	G41E	0.984
8:120443241:G:T	A32D	0.984
8:120443215:C:G	G41R	0.982
8:120443215:C:T	G41R	0.982
8:120443220:A:T	L39H	0.981
8:120443284:A:G	W18R	0.981
8:120443284:A:T	W18R	0.981
8:120419871:A:G	L125S	0.980
8:120432115:C:A	G54W	0.980
8:120432112:C:G	D55H	0.979
8:120432099:A:C	I59R	0.978
8:120432111:T:A	D55V	0.978
8:120419910:A:G	L112P	0.977
8:120425326:G:C	H96D	0.977
8:120443269:C:G	G23R	0.977
8:120443269:C:T	G23R	0.977
8:120432114:C:T	G54E	0.976

dbSNP variants (sampled 300 via entrez): RS1000001753 (8:120396498 T>C,G), RS1000051424 (8:120441179 A>G), RS1000334227 (8:120427795 C>T), RS1000381339 (8:120400821 A>G), RS1000394072 (8:120407851 A>G,T), RS1000406419 (8:120427412 G>T), RS1000448456 (8:120425142 G>C), RS1000519469 (8:120425513 CG>C), RS1000585508 (8:120421521 G>A), RS1000597831 (8:120401605 C>T), RS1000643060 (8:120445904 T>C), RS1000695426 (8:120431365 G>T), RS1000814618 (8:120407739 T>A,C), RS1000855801 (8:120420893 C>T), RS1000885108 (8:120444931 G>A,T)

Disease associations

OMIM: gene MIM:610200 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002638_3	Gastritis	2.000000e-06
GCST004071_14	Cerebrospinal T-tau levels	4.000000e-06
GCST004986_4	Idiopathic pulmonary fibrosis	2.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004760	t-tau measurement
EFO:0000768	idiopathic pulmonary fibrosis

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs12960	Toxicity	3	docetaxel;thalidomide	Prostatic Neoplasms

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12960	RPL13, SNORD68, SPG7	3	2.00	1	docetaxel;thalidomide
rs2019604	RPL13, SPG7	4	-1.25	1	anthracyclines and related substances
rs2292954	RPL13, SPG7	3	2.00	1	docetaxel;thalidomide

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
bisphenol A	affects expression, decreases expression, decreases reaction, increases abundance	2
Acetaminophen	affects cotreatment, decreases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
ginger extract	decreases expression, decreases reaction, increases abundance	1
dicrotophos	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	increases expression	1
2-palmitoylglycerol	increases expression	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Atrazine	decreases expression	1
Diuron	decreases expression	1
Ivermectin	decreases expression	1
Lead	increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Oils, Volatile	decreases expression, decreases reaction, increases abundance	1
Ozone	affects expression, increases abundance	1
Piroxicam	decreases expression	1
Quercetin	decreases expression	1
Ribonucleotides	affects binding	1
Tunicamycin	decreases expression	1

Clinical trials (associated diseases)

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