RBM23

Summary

RBM23 (RNA binding motif protein 23, HGNC:20155) is a protein-coding gene on chromosome 14q11.2, encoding Probable RNA-binding protein 23 (Q86U06). RNA-binding protein that acts both as a transcription coactivator and pre-mRNA splicing factor.

This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 55147 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 108 total
• MANE Select transcript: NM_001077351

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20155
Approved symbol	RBM23
Name	RNA binding motif protein 23
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10482, CAPERbeta
Ensembl gene	ENSG00000100461
Ensembl biotype	protein_coding
OMIM	621023
Entrez	55147

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 27 protein_coding, 8 retained_intron, 6 protein_coding_CDS_not_defined

ENST00000307814, ENST00000346528, ENST00000359890, ENST00000399922, ENST00000542016, ENST00000553738, ENST00000553777, ENST00000553876, ENST00000553884, ENST00000553902, ENST00000553920, ENST00000554256, ENST00000554618, ENST00000554955, ENST00000555209, ENST00000555676, ENST00000555691, ENST00000555714, ENST00000555722, ENST00000556186, ENST00000556365, ENST00000556687, ENST00000556838, ENST00000556862, ENST00000556984, ENST00000557127, ENST00000557227, ENST00000557245, ENST00000557403, ENST00000557464, ENST00000557549, ENST00000557571, ENST00000557667, ENST00000887282, ENST00000911674, ENST00000911675, ENST00000961236, ENST00000961237, ENST00000961238, ENST00000961239, ENST00000961240

RefSeq mRNA: 9 — MANE Select: NM_001077351 NM_001077351, NM_001077352, NM_001308044, NM_001352762, NM_001352763, NM_001352764, NM_001352765, NM_001352766, NM_018107

CCDS: CCDS41919, CCDS41920, CCDS41921, CCDS76658

Canonical transcript exons

ENST00000359890 — 14 exons

Exon	Start	End
ENSE00002284590	22918999	22919149
ENSE00003459026	22902187	22902382
ENSE00003537165	22904261	22904326
ENSE00003557681	22905094	22905246
ENSE00003561275	22911328	22911403
ENSE00003569933	22905336	22905453
ENSE00003575191	22904875	22905012
ENSE00003660492	22901980	22902099
ENSE00003667254	22906195	22906368
ENSE00003682073	22901814	22901883
ENSE00003691348	22905606	22905659
ENSE00003730399	22893204	22901733
ENSE00003786476	22908333	22908380
ENSE00003790087	22909483	22909595

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 98.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.7376 / max 750.8697, expressed in 1816 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142265	33.9543	1816
142264	2.1501	1188
142263	0.3454	185
142262	0.2877	102

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.06	gold quality
right uterine tube	UBERON:0001302	97.23	gold quality
left ovary	UBERON:0002119	96.42	gold quality
right lobe of thyroid gland	UBERON:0001119	96.28	gold quality
islet of Langerhans	UBERON:0000006	96.10	gold quality
body of uterus	UBERON:0009853	96.06	gold quality
ventricular zone	UBERON:0003053	96.00	gold quality
left lobe of thyroid gland	UBERON:0001120	95.95	gold quality
right ovary	UBERON:0002118	95.94	gold quality
monocyte	CL:0000576	95.92	gold quality
endocervix	UBERON:0000458	95.85	gold quality
leukocyte	CL:0000738	95.82	gold quality
mononuclear cell	CL:0000842	95.80	gold quality
colonic epithelium	UBERON:0000397	95.78	gold quality
thyroid gland	UBERON:0002046	95.61	gold quality
left uterine tube	UBERON:0001303	95.58	gold quality
granulocyte	CL:0000094	95.51	gold quality
gall bladder	UBERON:0002110	95.50	gold quality
metanephros cortex	UBERON:0010533	95.46	gold quality
sural nerve	UBERON:0015488	95.41	gold quality
mucosa of stomach	UBERON:0001199	95.05	gold quality
adenohypophysis	UBERON:0002196	94.95	gold quality
ectocervix	UBERON:0012249	94.95	gold quality
blood	UBERON:0000178	94.87	gold quality
body of stomach	UBERON:0001161	94.82	gold quality
rectum	UBERON:0001052	94.75	gold quality
adrenal tissue	UBERON:0018303	94.74	gold quality
pituitary gland	UBERON:0000007	94.73	gold quality
ganglionic eminence	UBERON:0004023	94.72	gold quality
smooth muscle tissue	UBERON:0001135	94.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.87
E-MTAB-7606	no	206.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

60 targeting RBM23, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
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-LET-7C-3P	99.95	73.42	2862
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363

Literature-anchored findings (GeneRIF, showing 2)

• aryl-sulfonamides neo-functionalize a shallow, non-conserved pocket on DCAF15 to selectively bind and degrade RBM39 and the closely related splicing factor RBM23 without the requirement for a high-affinity ligand (PMID:31686031)
• RBM23 Drives Hepatocellular Carcinoma by Activating NF-kappaB Signaling Pathway. (PMID:33791378)

Cross-species orthologs

0 orthologs

Paralogs (36): DAZAP1 (ENSG00000071626), CIRBP (ENSG00000099622), RBM3 (ENSG00000102317), NCL (ENSG00000115053), TIA1 (ENSG00000116001), HNRNPA2B1 (ENSG00000122566), RBM19 (ENSG00000122965), RBM39 (ENSG00000131051), MSI1 (ENSG00000135097), HNRNPA1 (ENSG00000135486), HNRNPD (ENSG00000138668), HNRNPA1L2 (ENSG00000139675), RBMX (ENSG00000147274), A1CF (ENSG00000148584), TIAL1 (ENSG00000151923), RBM46 (ENSG00000151962), HNRNPDL (ENSG00000152795), MSI2 (ENSG00000153944), RBM47 (ENSG00000163694), RBMY1F (ENSG00000169800), HNRNPA3 (ENSG00000170144), RBMXL2 (ENSG00000170748), RBM4B (ENSG00000173914), RBM4 (ENSG00000173933), RBMXL3 (ENSG00000175718), HNRNPA0 (ENSG00000177733), TRNAU1AP (ENSG00000180098), HNRNPAB (ENSG00000197451), RBMXL1 (ENSG00000213516), HNRNPA1L3 (ENSG00000224578), RBMY1J (ENSG00000226941), RBMY1A1 (ENSG00000234414), RBMY1E (ENSG00000242389), RBMY1B (ENSG00000242875), RBMY1D (ENSG00000244395), DND1 (ENSG00000256453)

Protein

Protein identifiers

Probable RNA-binding protein 23 — Q86U06 (reviewed: Q86U06)

Alternative names: CAPER beta, RNA-binding motif protein 23, RNA-binding region-containing protein 4, Splicing factor SF2

All UniProt accessions (20): Q86U06, A0A0B4J267, A0A0S2Z5D9, A0A0S2Z5I1, A0A0S2Z5J3, G3V225, G3V2B4, G3V2B6, G3V2H9, G3V3S8, G3V3V3, G3V546, G3V5J5, G3V5V1, G3V5W6, G3V5Y2, G3V5Z6, G3XAP0, H0YJJ3, H0YJN4

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein that acts both as a transcription coactivator and pre-mRNA splicing factor. Regulates steroid hormone receptor-mediated transcription, independently of the pre-mRNA splicing factor activity.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in placenta, liver, skeletal muscle, heart and kidney. Expressed at lower levels in the colon, thymus, spleen, small intestine and lung.

Post-translational modifications. Aryl sulfonamide anticancer drugs, such as indisulam (E7070) or E7820, promote ubiquitination and subsequent degradation by the DCX(DCAF15) complex. Aryl sulfonamide anticancer drugs change the substrate specificity of DCAF15 by acting as a molecular glue that promotes binding between DCAF15 and weak affinity interactor RBM23.

Similarity. Belongs to the splicing factor SR family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q86U06-1	1	yes
Q86U06-2	2
Q86U06-3	3
Q86U06-4	4
Q86U06-5	5

RefSeq proteins (9): NP_001070819, NP_001070820, NP_001294973, NP_001339691, NP_001339692, NP_001339693, NP_001339694, NP_001339695, NP_060577 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR006509	RBM39_SF	Family
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR029123	RBM39_linker	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076, PF15519

UniProt features (45 total): strand 12, helix 7, splice variant 5, compositionally biased region 5, sequence variant 3, mutagenesis site 3, domain 2, modified residue 2, sequence conflict 2, turn 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2CQ4	SOLUTION NMR
2DNZ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86U06-F1	63.67	0.15

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): 149, 128

Mutagenesis-validated functional residues (3):

Position	Phenotype
169–173	in m1; abolished ability to regulate steroid hormone receptor-mediated transcription, without affecting the pre-mrna spl
266–270	in m2; reduced pre-mrna splicing factor activity without affecting steroid hormone receptor-mediated transcription.
369–373	in m3; reduced pre-mrna splicing factor activity without affecting steroid hormone receptor-mediated transcription.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 82 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, MODULE_95, GOBP_REGULATION_OF_RNA_SPLICING, MULLIGHAN_MLL_SIGNATURE_1_UP, GOMF_RIBONUCLEOPROTEIN_COMPLEX_BINDING, GOBP_REGULATION_OF_MRNA_PROCESSING, GOBP_MRNA_PROCESSING, MODULE_163, GOMF_PROTEIN_CONTAINING_COMPLEX_BINDING, GOMF_SNRNP_BINDING, GOBP_REGULATION_OF_MRNA_METABOLIC_PROCESS, ATF5_TARGET_GENES, ATF6_TARGET_GENES

GO Biological Process (4): mRNA processing (GO:0006397), RNA splicing (GO:0008380), positive regulation of DNA-templated transcription (GO:0045893), regulation of mRNA splicing, via spliceosome (GO:0048024)

GO Molecular Function (4): RNA binding (GO:0003723), U1 snRNP binding (GO:1990446), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
binding	2
mRNA metabolic process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
mRNA splicing, via spliceosome	1
regulation of RNA splicing	1
regulation of mRNA processing	1
nucleic acid binding	1
snRNP binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBM23	SRSF1	Q07955	610
RBM23	MRPS21	P82921	571
RBM23	DCAF15	Q66K64	562
RBM23	C1QBP	Q07021	531
RBM23	DDB1	Q16531	528
RBM23	EIF1B	O60739	448
RBM23	MTOR	P42345	442
RBM23	SRSF3	P23152	422
RBM23	UBE2I	P50550	415
RBM23	TUBA4A	P05215	394
RBM23	DCLK3	Q9C098	379
RBM23	SRSF6	Q13247	375
RBM23	THOC6	Q86W42	368
RBM23	HNRNPC	P07910	365
RBM23	SRPK1	Q96SB4	360

IntAct

78 interactions, top by confidence:

A	B	Type	Score
SRPK2	RBM23	psi-mi:“MI:0217”(phosphorylation reaction)	0.690
RBM23	SRPK2	psi-mi:“MI:0915”(physical association)	0.690
CHCHD10	CLPX	psi-mi:“MI:0914”(association)	0.640
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
PRMT5	RBM23	psi-mi:“MI:0915”(physical association)	0.630
RBM23	PRMT5	psi-mi:“MI:0915”(physical association)	0.630
gag	PRP4K	psi-mi:“MI:0217”(phosphorylation reaction)	0.630
RBM23	BHLHE40	psi-mi:“MI:0915”(physical association)	0.560
RBM23	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
MAGEA11	RBM23	psi-mi:“MI:0915”(physical association)	0.560
RBM23	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
MAGED1	RBM23	psi-mi:“MI:0915”(physical association)	0.560
BHLHE40	RBM23	psi-mi:“MI:0915”(physical association)	0.560
RBM23	MAGEA11	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	RBM23	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	RBM23	psi-mi:“MI:0915”(physical association)	0.560
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
TNFRSF13B	TNFRSF10B	psi-mi:“MI:0914”(association)	0.530
CLEC3A	ZZEF1	psi-mi:“MI:0914”(association)	0.530
BHLHA15	RPLP0	psi-mi:“MI:0914”(association)	0.530
BHLHA15	YBX3	psi-mi:“MI:0914”(association)	0.530
EZH1	EPOP	psi-mi:“MI:0914”(association)	0.530

BioGRID (141): RBM23 (Two-hybrid), RBM23 (Two-hybrid), RBM23 (Two-hybrid), RBM23 (Two-hybrid), FAM9B (Two-hybrid), RBM23 (Affinity Capture-MS), RBM23 (Affinity Capture-MS), LRRC1 (Affinity Capture-MS), SCRIB (Affinity Capture-MS), DIS3 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANKRD17 (Affinity Capture-MS), ACOT2 (Affinity Capture-MS), NAA10 (Affinity Capture-MS), DBNL (Affinity Capture-MS)

ESM2 similar proteins: A2SW84, A8Y1R8, B0W939, B1WC40, B3LYP1, B3P0D7, B4GLK8, B4IBA4, B4JUT1, B4KCD5, B4LZ88, B4M205, B4NB54, B4PL68, B4QV17, B5G279, B7P877, C0H859, C1BY64, C6Y4C0, O13845, O94290, P25555, P38922, P52298, P52299, Q08920, Q177H0, Q1HE01, Q293V6, Q2U256, Q3ZBJ1, Q4IE79, Q4KMD3, Q4WAQ9, Q54KR9, Q5ARI5, Q5ZKR5, Q6DES0, Q754W7

Diamond homologs: A0A0A0LLY1, A0A0D1C8Z4, A0A2R8Y4L2, A5A6H4, A5A6M3, A7VJC2, D4AE41, O22703, O75526, O88569, O89086, O93235, P04256, P09651, P09867, P10979, P17130, P19682, P19683, P19684, P22626, P28644, P38159, P39697, P41891, P49310, P49311, P49312, P49313, P49314, P51968, P51989, P51990, P51991, P51992, P60824, P60825, P60826, P84586, P98179

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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
mRNA Polyadenylation	6	9.4×	4e-03
mRNA Splicing - Major Pathway	8	7.8×	1e-03
Metabolism of RNA	9	6.7×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of mRNA splicing, via spliceosome	5	56.1×	1e-05
RNA processing	6	16.6×	3e-04
regulation of alternative mRNA splicing, via spliceosome	5	15.5×	2e-03
RNA splicing	9	10.1×	7e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1670 predictions. Top by Δscore:

Variant	Effect	Δscore
14:22901812:A:AC	donor_gain	1.0000
14:22901813:C:CC	donor_gain	1.0000
14:22901884:C:CC	acceptor_gain	1.0000
14:22901957:T:TA	donor_gain	1.0000
14:22901962:T:A	donor_gain	1.0000
14:22901977:TACC:T	donor_loss	1.0000
14:22901978:ACCA:A	donor_loss	1.0000
14:22901979:C:A	donor_gain	1.0000
14:22901979:CC:C	donor_loss	1.0000
14:22901988:G:C	donor_gain	1.0000
14:22902021:C:CA	donor_gain	1.0000
14:22902095:AGCGC:A	acceptor_gain	1.0000
14:22902096:GCGC:G	acceptor_gain	1.0000
14:22902097:CGC:C	acceptor_gain	1.0000
14:22902097:CGCC:C	acceptor_gain	1.0000
14:22902098:GC:G	acceptor_gain	1.0000
14:22902098:GCCTA:G	acceptor_loss	1.0000
14:22902099:CC:C	acceptor_gain	1.0000
14:22902099:CCTA:C	acceptor_loss	1.0000
14:22902100:C:CC	acceptor_gain	1.0000
14:22902100:C:T	acceptor_gain	1.0000
14:22902183:TTA:T	donor_loss	1.0000
14:22902184:TACCT:T	donor_loss	1.0000
14:22902185:A:C	donor_loss	1.0000
14:22902186:CCT:C	donor_loss	1.0000
14:22902186:CCTT:C	donor_gain	1.0000
14:22902378:GAGAA:G	acceptor_gain	1.0000
14:22902379:AGAA:A	acceptor_gain	1.0000
14:22902380:GAA:G	acceptor_gain	1.0000
14:22902381:AA:A	acceptor_gain	1.0000

AlphaMissense

2874 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:22904267:G:C	F308L	1.000
14:22904267:G:T	F308L	1.000
14:22904269:A:G	F308L	1.000
14:22905003:T:C	N246D	1.000
14:22905004:T:A	K245N	1.000
14:22905004:T:G	K245N	1.000
14:22905005:T:A	K245I	1.000
14:22905107:A:T	V238E	1.000
14:22905143:A:G	L226P	1.000
14:22905152:G:T	A223D	1.000
14:22905179:A:G	F214S	1.000
14:22905189:A:G	Y211H	1.000
14:22905191:G:T	A210D	1.000
14:22905194:A:T	I209N	1.000
14:22905197:C:A	G208V	1.000
14:22905197:C:T	G208D	1.000
14:22905198:C:A	G208C	1.000
14:22905198:C:G	G208R	1.000
14:22905198:C:T	G208S	1.000
14:22905199:C:A	K207N	1.000
14:22905199:C:G	K207N	1.000
14:22905201:T:C	K207E	1.000
14:22905227:A:T	I198N	1.000
14:22905364:A:G	L182P	1.000
14:22905391:A:G	L173S	1.000
14:22905399:A:C	C170W	1.000
14:22905400:C:T	C170Y	1.000
14:22905401:A:G	C170R	1.000
14:22905403:A:G	F169S	1.000
14:22905406:A:T	V168D	1.000

dbSNP variants (sampled 300 via entrez): RS1000158477 (14:22903679 C>T), RS1000408398 (14:22892892 C>T), RS1000454408 (14:22904867 C>A,G), RS1000533860 (14:22900582 G>A), RS1000938717 (14:22906603 T>C), RS1000947209 (14:22920194 A>G), RS1000989238 (14:22917153 C>T), RS1001108670 (14:22915757 G>A,C), RS1001146790 (14:22894491 T>A,C), RS1001343926 (14:22895385 A>T), RS1001461863 (14:22917062 T>C), RS1001559352 (14:22911528 G>A), RS1001613175 (14:22911944 A>C), RS1001655169 (14:22916789 T>C), RS1001852396 (14:22916867 A>G)

Disease associations

OMIM: gene MIM:621023 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST005141_17	Cognitive ability (MTAG)	9.000000e-09
GCST006135_13	Cortical amyloid beta load	6.000000e-06
GCST006135_3	Cortical amyloid beta load	5.000000e-06
GCST006135_4	Cortical amyloid beta load	4.000000e-07
GCST006135_6	Cortical amyloid beta load	4.000000e-06
GCST008595_80	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	4.000000e-12
GCST009724_54	Vertical cup-disc ratio (multi-trait analysis)	2.000000e-16
GCST010483_2	Cardiovascular death, myocardial infarction or stroke in response to clopidogrel treatment	5.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0007707	cerebral amyloid deposition measurement
EFO:0006939	cup-to-disc ratio measurement
EFO:0006919	cardiovascular event measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzene	increases expression	1
Diethylstilbestrol	decreases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Vincristine	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	decreases methylation	1
Lithium Chloride	decreases expression	1
Sodium Selenite	decreases expression	1
Acrylamide	increases expression	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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