RNF130

Summary

RNF130 (ring finger protein 130, HGNC:18280) is a protein-coding gene on chromosome 5q35.3, encoding E3 ubiquitin-protein ligase RNF130 (Q86XS8). May have a role during the programmed cell death of hematopoietic cells.

The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55819 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 88 total
• MANE Select transcript: NM_018434

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18280
Approved symbol	RNF130
Name	ring finger protein 130
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	GP, G1RZFP, GOLIATH
Ensembl gene	ENSG00000113269
Ensembl biotype	protein_coding
OMIM	619163
Entrez	55819

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000261947, ENST00000519708, ENST00000520564, ENST00000520911, ENST00000521389, ENST00000521901, ENST00000522208, ENST00000523487, ENST00000859760, ENST00000859761, ENST00000859762, ENST00000859763, ENST00000859764, ENST00000859765

RefSeq mRNA: 3 — MANE Select: NM_018434 NM_001280801, NM_001410829, NM_018434

CCDS: CCDS4451, CCDS64340, CCDS93841

Canonical transcript exons

ENST00000521389 — 9 exons

Exon	Start	End
ENSE00000973798	180013061	180013311
ENSE00001193947	180040453	180040647
ENSE00001311724	180071456	180071759
ENSE00002090878	179955067	179955669
ENSE00003484829	179970410	179970506
ENSE00003502302	179978203	179978285
ENSE00003560403	179966806	179967010
ENSE00003598705	179980129	179980200
ENSE00003607730	179963471	179963564

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 99.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.9131 / max 795.4268, expressed in 1796 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
65271	46.8869	1769
65275	10.5777	1761
65274	3.7411	1477
65273	0.6179	343
65272	0.0895	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.07	gold quality
mononuclear cell	CL:0000842	98.97	gold quality
leukocyte	CL:0000738	98.94	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.91	gold quality
spinal cord	UBERON:0002240	98.58	gold quality
corpus callosum	UBERON:0002336	98.39	gold quality
granulocyte	CL:0000094	98.16	gold quality
blood	UBERON:0000178	98.06	gold quality
olfactory bulb	UBERON:0002264	97.97	gold quality
tibial nerve	UBERON:0001323	97.72	gold quality
inferior vagus X ganglion	UBERON:0005363	97.56	gold quality
right lobe of liver	UBERON:0001114	97.31	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.23	gold quality
omental fat pad	UBERON:0010414	97.21	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.20	gold quality
peritoneum	UBERON:0002358	97.18	gold quality
right lung	UBERON:0002167	97.12	gold quality
right coronary artery	UBERON:0001625	97.05	gold quality
descending thoracic aorta	UBERON:0002345	97.03	gold quality
calcaneal tendon	UBERON:0003701	96.98	gold quality
substantia nigra	UBERON:0002038	96.94	gold quality
adipose tissue	UBERON:0001013	96.86	gold quality
subcutaneous adipose tissue	UBERON:0002190	96.69	gold quality
thoracic aorta	UBERON:0001515	96.67	gold quality
endocervix	UBERON:0000458	96.66	gold quality
midbrain	UBERON:0001891	96.65	gold quality
bronchial epithelial cell	CL:0002328	96.64	gold quality
ascending aorta	UBERON:0001496	96.62	gold quality
connective tissue	UBERON:0002384	96.62	gold quality
left coronary artery	UBERON:0001626	96.60	gold quality

Single-cell (SCXA)

Detected in 20 experiment(s), a significant marker in 18.

Experiment	Marker?	Max mean expression
E-HCAD-6	yes	397.95
E-HCAD-1	yes	78.15
E-HCAD-4	yes	72.31
E-CURD-122	yes	69.69
E-MTAB-8410	yes	47.42
E-MTAB-10553	yes	36.23
E-CURD-46	yes	33.60
E-CURD-88	yes	32.53
E-MTAB-9221	yes	29.01
E-MTAB-6701	yes	27.52
E-GEOD-134144	yes	25.52
E-CURD-112	yes	25.30
E-MTAB-10287	yes	23.96
E-MTAB-6678	yes	23.56
E-MTAB-5061	yes	16.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting RNF130, 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-10401-5P	99.99	65.79	948
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-140-3P	99.04	67.69	1324
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-4766-3P	98.48	67.94	1347
HSA-MIR-147A	98.33	66.40	795
HSA-MIR-509-3P	98.12	67.25	612
HSA-MIR-1322	97.98	68.96	625
HSA-MIR-4432	97.80	67.87	705
HSA-MIR-7111-3P	97.80	66.75	1467
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-1226-3P	97.51	66.32	1063
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-939-5P	97.10	65.80	1579
HSA-MIR-505-5P	97.01	65.54	778
HSA-MIR-1343-5P	96.48	66.06	1506
HSA-MIR-644A	96.02	66.52	786
HSA-MIR-3622B-5P	94.62	64.58	835

Literature-anchored findings (GeneRIF, showing 5)

• Cloning and functional analysis of the mouse counterpart. (PMID:10806348)
• Cloning and functional analysis of the rat counterpart. (PMID:13679316)
• GOLIATH, a paralog of GRAIL, is a new E3 ligase protein, expressed in leukocytes. (PMID:16549277)
• In myeloma cell lines but not normal plasma cells, DNA methylation correlated inversely with the expression of both miR-340 and RNF130. RNF130/miR-340 methylation at diagnosis was associated with inferior overall survival. (PMID:31064412)
• RNF130 protects against pulmonary fibrosis through suppressing aerobic glycolysis by mediating c-myc ubiquitination. (PMID:36893517)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf130	ENSDARG00000089767
mus_musculus	Rnf130	ENSMUSG00000020376
rattus_norvegicus	Rnf130	ENSRNOG00000046330

Paralogs (9): RNF13 (ENSG00000082996), RNF215 (ENSG00000099999), ZNRF4 (ENSG00000105428), RNF167 (ENSG00000108523), RNF128 (ENSG00000133135), RNF149 (ENSG00000163162), RNF150 (ENSG00000170153), RNF133 (ENSG00000188050), RNF148 (ENSG00000235631)

Protein

Protein identifiers

E3 ubiquitin-protein ligase RNF130 — Q86XS8 (reviewed: Q86XS8)

Alternative names: Goliath homolog, RING finger protein 130, RING-type E3 ubiquitin transferase RNF130

All UniProt accessions (3): A0A0C4DGE2, E5RI87, Q86XS8

UniProt curated annotations — full annotation on UniProt →

Function. May have a role during the programmed cell death of hematopoietic cells. Acts as an E3 ubiquitin-protein ligase.

Subcellular location. Membrane. Cytoplasm.

Tissue specificity. Ubiquitously expressed. Highly expressed in leukocytes. Not expressed in erythroblasts.

Post-translational modifications. In vivo measurements suggest this protein is glycosylated. In contrast, in vitro experiments failed to detect glycosylation.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86XS8-1	1	yes
Q86XS8-2	2

RefSeq proteins (3): NP_001267730, NP_001397758, NP_060904* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR003137	PA_domain	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR046450	PA_dom_sf	Homologous_superfamily
IPR051834	RING_finger_E3_ligase	Family

Pfam: PF02225, PF13639

UniProt features (19 total): glycosylation site 6, sequence conflict 3, splice variant 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, zinc finger region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86XS8-F1	74.54	0.36

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): 341

Glycosylation sites (6): 112, 135, 172, 189, 29, 40

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 239 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GNF2_CD1D, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GNF2_HCK, MULLIGHAN_NPM1_SIGNATURE_3_DN, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOBP_PROTEIN_CATABOLIC_PROCESS, ZHAN_MULTIPLE_MYELOMA_CD1_AND_CD2_DN

GO Biological Process (4): ubiquitin-dependent protein catabolic process (GO:0006511), apoptotic process (GO:0006915), programmed cell death (GO:0012501), protein ubiquitination (GO:0016567)

GO Molecular Function (5): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
signal transduction	1
cell death	1
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

647 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF130	FAM131B	Q86XD5	754
RNF130	CLCN6	P51797	698
RNF130	MKRN1	Q9UHC7	668
RNF130	KIAA1549	Q9HCM3	618
RNF130	BRAF	P15056	552
RNF130	GNAI1	P04898	535
RNF130	RNF223	E7ERA6	495
RNF130	RNFT1	Q5M7Z0	458
RNF130	RNF121	Q9H920	451
RNF130	RNFT2	Q96EX2	440
RNF130	TBC1D9B	Q66K14	440
RNF130	RNF183	Q96D59	431
RNF130	CGRRF1	Q99675	416
RNF130	GRAMD4	Q6IC98	403
RNF130	RNF144A	P50876	397
RNF130	MACF1	Q9UPN3	397

IntAct

144 interactions, top by confidence:

A	B	Type	Score
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
SCGB1D4	EGFR	psi-mi:“MI:0914”(association)	0.530
BTNL3	FAM171A2	psi-mi:“MI:0914”(association)	0.530
RNF130	PARD3	psi-mi:“MI:0407”(direct interaction)	0.440
PDZD2	RNF130	psi-mi:“MI:0407”(direct interaction)	0.440
GORASP2	RNF130	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	HTRA3	psi-mi:“MI:0407”(direct interaction)	0.440
RADIL	RNF130	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
DVL3	RNF130	psi-mi:“MI:0407”(direct interaction)	0.440
PTPN3	RNF130	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	GORASP1	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	FRMPD3	psi-mi:“MI:0407”(direct interaction)	0.440
RNF130	PALS2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (352): RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS), RNF130 (Affinity Capture-MS)

ESM2 similar proteins: B6ZK76, C5IAW9, F4HZZ4, F4HZZ5, G3X9R7, O08721, O08747, O43567, O54965, O95185, P00545, P05622, P07333, Q00495, Q05030, Q0VD51, Q14B02, Q29RU0, Q2TA44, Q3TT99, Q3U2C5, Q566M8, Q5DTZ6, Q5RCV8, Q5RF74, Q5XIL0, Q66HG0, Q6AY01, Q6NRX0, Q6NXM3, Q6W3E5, Q6Y290, Q6ZN44, Q761X5, Q7T2Z5, Q86XS8, Q8AWW4, Q8K1S4, Q8N7C7, Q8NC42

Diamond homologs: A5WWA0, E9QAU8, G3X9R7, O22197, O22755, O43567, O54965, O64763, P0C034, P0CH30, P0DPR2, Q06003, Q07G42, Q08D68, Q0II22, Q0VD51, Q10R93, Q14B02, Q29RU0, Q2TA44, Q3U2C5, Q4KLR8, Q4R6Y5, Q5NCP0, Q5RCV8, Q5RF74, Q5SPX3, Q5SSZ7, Q5XF85, Q641J8, Q66HG0, Q68DV7, Q69U49, Q6AY01, Q6DIP3, Q6IRP0, Q6NML0, Q6NQG7, Q6NRX0, Q6Y290

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF130	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 119 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
Ras activation upon Ca2+ influx through NMDA receptor	5	38.1×	2e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	36.2×	2e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	36.2×	2e-05
Long-term potentiation	5	31.7×	3e-05
Assembly and cell surface presentation of NMDA receptors	8	27.1×	2e-07
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	5	24.6×	9e-05
Neurexins and neuroligins	7	18.4×	2e-05
E3 ubiquitin ligases ubiquitinate target proteins	5	12.9×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	62.7×	5e-15
receptor clustering	7	42.8×	7e-08
protein localization to synapse	5	37.5×	2e-05
regulation of postsynaptic membrane neurotransmitter receptor levels	7	34.0×	3e-07
protein K48-linked ubiquitination	6	9.9×	2e-03
cell-cell adhesion	9	9.0×	8e-05
protein-containing complex assembly	8	8.9×	3e-04
ubiquitin-dependent protein catabolic process	9	6.5×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2282 predictions. Top by Δscore:

Variant	Effect	Δscore
5:179955612:T:A	donor_gain	1.0000
5:179966799:CACTT:C	donor_loss	1.0000
5:179966800:ACTT:A	donor_loss	1.0000
5:179966801:CTT:C	donor_loss	1.0000
5:179966802:TTACT:T	donor_loss	1.0000
5:179966803:TACT:T	donor_loss	1.0000
5:179966804:A:AC	donor_gain	1.0000
5:179966804:A:C	donor_loss	1.0000
5:179966805:C:CC	donor_gain	1.0000
5:179966805:C:CG	donor_loss	1.0000
5:179967006:TTCGG:T	acceptor_gain	1.0000
5:179967007:TCGG:T	acceptor_gain	1.0000
5:179967008:CGG:C	acceptor_gain	1.0000
5:179967008:CGGC:C	acceptor_gain	1.0000
5:179978201:A:AC	donor_gain	1.0000
5:179978202:C:CC	donor_gain	1.0000
5:179978617:A:AC	donor_gain	1.0000
5:179978618:T:C	donor_gain	1.0000
5:179980094:A:AC	donor_gain	1.0000
5:179980095:C:CC	donor_gain	1.0000
5:179980095:CTT:C	donor_gain	1.0000
5:179980096:TTT:T	donor_gain	1.0000
5:179980097:TTT:T	donor_gain	1.0000
5:179980128:CCTTG:C	donor_gain	1.0000
5:179980203:A:C	acceptor_gain	1.0000
5:179980210:T:C	acceptor_gain	1.0000
5:179980210:T:TC	acceptor_gain	1.0000
5:180040447:GTTTA:G	donor_loss	1.0000
5:180040448:TTTA:T	donor_loss	1.0000
5:180040449:TTAC:T	donor_loss	1.0000

AlphaMissense

2749 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:179963527:A:C	S396R	1.000
5:179963527:A:T	S396R	1.000
5:179963529:T:G	S396R	1.000
5:179963537:C:T	G393D	1.000
5:179963538:C:G	G393R	1.000
5:179963542:A:C	S391R	1.000
5:179963542:A:T	S391R	1.000
5:179963544:T:G	S391R	1.000
5:179970432:A:C	I308R	1.000
5:179970432:A:T	I308K	1.000
5:179970438:A:G	L306P	1.000
5:179970440:T:A	K305N	1.000
5:179970440:T:G	K305N	1.000
5:179970441:T:A	K305I	1.000
5:179970442:T:C	K305E	1.000
5:179970443:G:C	C304W	1.000
5:179970444:C:A	C304F	1.000
5:179970444:C:G	C304S	1.000
5:179970444:C:T	C304Y	1.000
5:179970445:A:G	C304R	1.000
5:179970445:A:T	C304S	1.000
5:179970450:G:C	P302R	1.000
5:179970450:G:T	P302H	1.000
5:179970451:G:A	P302S	1.000
5:179970451:G:T	P302T	1.000
5:179970452:A:C	C301W	1.000
5:179970453:C:A	C301F	1.000
5:179970453:C:G	C301S	1.000
5:179970453:C:T	C301Y	1.000
5:179970454:A:C	C301G	1.000

dbSNP variants (sampled 300 via entrez): RS1000011269 (5:180068137 C>A), RS1000026670 (5:180013744 T>A,G), RS1000038066 (5:180013106 G>A), RS1000043896 (5:179949015 G>C,T), RS1000056769 (5:179936623 C>T), RS1000085115 (5:180060561 C>A,G), RS1000107437 (5:179934337 A>C), RS1000130504 (5:179937949 A>G,T), RS1000141521 (5:180055475 C>T), RS1000177074 (5:180037125 T>G), RS1000178306 (5:179957203 G>T), RS1000195780 (5:179994786 G>A), RS1000206176 (5:179957502 A>G), RS1000223502 (5:179917362 G>C,T), RS1000249139 (5:180037261 A>G)

Disease associations

OMIM: gene MIM:619163 | 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
GCST000975_9	LDL cholesterol	4.000000e-07
GCST006628_25	Systolic blood pressure	1.000000e-11
GCST008758_31	Pre-treatment viral load in HIV-1 infection	9.000000e-16

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0006335	systolic blood pressure
EFO:0010125	viral load

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	7
trichostatin A	affects cotreatment, decreases expression	3
bisphenol A	decreases methylation, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Vorinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
pinostrobin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
gardiquimod	decreases expression, decreases reaction	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	increases expression, affects cotreatment	1
Phthalic Acids	decreases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Thimerosal	decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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