RBPMS2

Summary

RBPMS2 (RNA binding protein, mRNA processing factor 2, HGNC:19098) is a protein-coding gene on chromosome 15q22.31, encoding RNA-binding protein with multiple splicing 2 (Q6ZRY4). RNA-binding protein involved in the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system.

The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway.

Source: NCBI Gene 348093 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_194272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19098
Approved symbol	RBPMS2
Name	RNA binding protein, mRNA processing factor 2
Location	15q22.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166831
Ensembl biotype	protein_coding
OMIM	619034
Entrez	348093

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000300069, ENST00000560606, ENST00000890183, ENST00000890184, ENST00000890185, ENST00000890186, ENST00000930201

RefSeq mRNA: 1 — MANE Select: NM_194272 NM_194272

CCDS: CCDS32271

Canonical transcript exons

ENST00000300069 — 8 exons

Exon	Start	End
ENSE00001107049	64741173	64741242
ENSE00001107057	64748419	64748567
ENSE00001303912	64775233	64775589
ENSE00001367844	64739891	64741000
ENSE00003488395	64749431	64749493
ENSE00003533664	64751561	64751638
ENSE00003557350	64750343	64750381
ENSE00003660506	64749000	64749150

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 99.53.

FANTOM5 (CAGE): breadth broad, TPM avg 7.6768 / max 365.5205, expressed in 774 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150490	5.2990	613
150487	1.1074	368
150488	0.5625	142
150489	0.2974	97
150491	0.2494	108
150492	0.1610	63

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	99.53	gold quality
left ventricle myocardium	UBERON:0006566	99.19	gold quality
cardiac atrium	UBERON:0002081	98.93	gold quality
right atrium auricular region	UBERON:0006631	98.92	gold quality
apex of heart	UBERON:0002098	98.61	gold quality
heart left ventricle	UBERON:0002084	98.51	gold quality
cardiac ventricle	UBERON:0002082	98.44	gold quality
myocardium	UBERON:0002349	98.27	gold quality
mucosa of stomach	UBERON:0001199	97.63	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.57	gold quality
lower esophagus	UBERON:0013473	97.50	gold quality
popliteal artery	UBERON:0002250	97.30	gold quality
tibial artery	UBERON:0007610	97.29	gold quality
heart	UBERON:0000948	97.24	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.21	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.96	gold quality
heart right ventricle	UBERON:0002080	96.69	gold quality
right coronary artery	UBERON:0001625	95.07	gold quality
secondary oocyte	CL:0000655	93.62	gold quality
left coronary artery	UBERON:0001626	93.39	gold quality
body of uterus	UBERON:0009853	93.21	gold quality
coronary artery	UBERON:0001621	93.10	gold quality
smooth muscle tissue	UBERON:0001135	92.75	gold quality
seminal vesicle	UBERON:0000998	92.69	gold quality
oocyte	CL:0000023	92.60	gold quality
left uterine tube	UBERON:0001303	91.81	gold quality
colonic epithelium	UBERON:0000397	89.87	gold quality
fundus of stomach	UBERON:0001160	89.02	gold quality
myometrium	UBERON:0001296	88.41	gold quality
body of stomach	UBERON:0001161	87.91	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-7008	yes	325.85
E-MTAB-9388	yes	12.65
E-MTAB-9067	yes	10.67
E-ANND-3	yes	6.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting RBPMS2, 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-513A-5P	100.00	69.77	2465
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505

Literature-anchored findings (GeneRIF, showing 4)

• RBPMS3 transcripts are up-regulation in colons of patients with chronic psuedo obstruction syndrome. (PMID:22683258)
• RBPMS2 is up-regulated in Gastrointestinal stromal tumors compared to normal adult gastrointestinal tissues, indicating that RBPMS2 might represent a new diagnostic marker for GISTs and a potential target for cancer therapy. (PMID:23295309)
• The study shows that RBPMS2 homodimerizes through a particular sequence motif located in its RNA recognition motif domain. (PMID:25064856)
• DNA methylation of RNA-binding protein for multiple splicing 2 functions as diagnosis biomarker in gastric cancer pathogenesis and its potential clinical significance. (PMID:35137653)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbpms2a	ENSDARG00000045930
danio_rerio	rbpms2b	ENSDARG00000079578
mus_musculus	Rbpms2	ENSMUSG00000032387
rattus_norvegicus	Rbpms2	ENSRNOG00000015896
caenorhabditis_elegans	mec-8	WBGENE00003172

Paralogs (1): RBPMS (ENSG00000157110)

Protein

Protein identifiers

RNA-binding protein with multiple splicing 2 — Q6ZRY4 (reviewed: Q6ZRY4)

Alternative names: RNA binding protein, mRNA processing factor 2

All UniProt accessions (1): Q6ZRY4

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein involved in the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system. Binds NOG mRNA, the major inhibitor of the bone morphogenetic protein (BMP) pathway. Mediates an increase of NOG mRNA levels, thereby contributing to the negative regulation of BMP signaling pathway and promoting reversible dedifferentiation and proliferation of smooth muscle cells. Acts as a pre-mRNA alternative splicing regulator. Mediates ACTN1 and FLNB alternative splicing. Likely binds to mRNA tandem CAC trinucleotide or CA dinucleotide motifs.

Subunit / interactions. Homodimer. Interacts with EEF2.

Subcellular location. Cytoplasm. Nucleus. Stress granule.

Domain organisation. The RNA recognition motif (RRM) domain mediates binding to tandem CAC trinucleotide motif separated by a variable spacer region present on single-stranded RNA. Can also bind to CA dinucleotide repeats.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZRY4-1	1	yes
Q6ZRY4-2	2

RefSeq proteins (1): NP_919248* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034787	RBPMS2_RRM	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (19 total): strand 6, mutagenesis site 2, helix 2, region of interest 2, compositionally biased region 2, initiator methionine 1, chain 1, domain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2M9K	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZRY4-F1	69.40	0.40

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

Mutagenesis-validated functional residues (2):

Position	Phenotype
49	no effect on homodimerization. no effect on function in gastrointestinal smooth muscle cell differentiation.
49	strongly reduces homodimerization and interaction with eef2. strongly reduces nog mrna binding. loss of function in gast

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 164 (showing top): GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, GOBP_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_MUSCLE_CELL_PROLIFERATION, GOBP_EMBRYONIC_DIGESTIVE_TRACT_MORPHOGENESIS, GOBP_DIGESTIVE_SYSTEM_DEVELOPMENT, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOBP_EMBRYONIC_DIGESTIVE_TRACT_DEVELOPMENT, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY

GO Biological Process (5): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), negative regulation of BMP signaling pathway (GO:0030514), embryonic digestive tract morphogenesis (GO:0048557), positive regulation of smooth muscle cell proliferation (GO:0048661), negative regulation of smooth muscle cell differentiation (GO:0051151)

GO Molecular Function (6): mRNA binding (GO:0003729), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoplasmic stress granule (GO:0010494)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
BMP signaling pathway	1
regulation of BMP signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
negative regulation of cellular response to growth factor stimulus	1
digestive tract morphogenesis	1
embryonic organ morphogenesis	1
embryonic digestive tract development	1
positive regulation of cell population proliferation	1
smooth muscle cell proliferation	1
regulation of smooth muscle cell proliferation	1
smooth muscle cell differentiation	1
negative regulation of muscle cell differentiation	1
regulation of smooth muscle cell differentiation	1
RNA binding	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
cytoplasmic ribonucleoprotein granule	1

Protein interactions and networks

STRING

1570 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBPMS2	EEF2	P13639	481
RBPMS2	PLEKHS1	Q5SXH7	460
RBPMS2	TOMM34	Q15785	384
RBPMS2	CPSF4L	A6NMK7	383
RBPMS2	RBM47	A0AV96	377
RBPMS2	SMKR1	H3BMG3	376
RBPMS2	NBPF14	Q5TI25	374
RBPMS2	PLEKHH1	Q9ULM0	367
RBPMS2	PTPRA	P18433	346
RBPMS2	NDRG3	Q9UGV2	334
RBPMS2	SMIM12	Q96EX1	323
RBPMS2	CT83	Q5H943	322
RBPMS2	ABRACL	Q9P1F3	321
RBPMS2	ESRP1	Q6NXG1	306
RBPMS2	LNX2	Q8N448	303

IntAct

228 interactions, top by confidence:

A	B	Type	Score
ESRP1	RBPMS2	psi-mi:“MI:0915”(physical association)	0.740
RBFOX2	RBPMS2	psi-mi:“MI:0915”(physical association)	0.700
PCBP1	RBPMS2	psi-mi:“MI:0915”(physical association)	0.600
RBPMS2	FOXD4L1	psi-mi:“MI:0915”(physical association)	0.600
RBPMS2	FAM168A	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	FUBP3	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	ZC3H10	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	PATZ1	psi-mi:“MI:0915”(physical association)	0.560
PPP1R37	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	USP54	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
TIAL1	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
RBM3	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	RBFOX1	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	BOLL	psi-mi:“MI:0915”(physical association)	0.560
HNRNPC	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	STRBP	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	RBM46	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	PTBP2	psi-mi:“MI:0915”(physical association)	0.560
CBX2	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	ZMAT5	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	IFIT2	psi-mi:“MI:0915”(physical association)	0.560
SNRPA	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
FOXD4L3	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
SEMA3B	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
RALY	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
UNC119	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
BHLHE40	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (95): RBPMS2 (Affinity Capture-MS), RBPMS2 (Affinity Capture-MS), RBPMS2 (Affinity Capture-MS), RBPMS2 (Affinity Capture-MS), RBPMS2 (Affinity Capture-MS), RBPMS2 (Affinity Capture-MS), RBPMS2 (Affinity Capture-MS), RBPMS2 (Two-hybrid), RBPMS2 (Two-hybrid), RBPMS2 (Two-hybrid), RBPMS2 (Two-hybrid), RBPMS2 (Two-hybrid), RBPMS2 (Two-hybrid), RBPMS2 (Two-hybrid), RBPMS2 (Two-hybrid)

ESM2 similar proteins: A0A8I6G705, A1L3K1, B5DFF2, B5DFI8, G3MWR8, O19048, O19137, O88508, P06730, P29338, P57721, P57722, P60335, Q12800, Q13888, Q15365, Q15366, Q16763, Q1LZ53, Q1RML1, Q28D01, Q2TBV5, Q4W5Z4, Q5E9A3, Q5FVR7, Q5NVP9, Q5TDH0, Q61990, Q6AYU1, Q6DH13, Q6P1K8, Q6ZRY4, Q7RTP6, Q8C6G8, Q8CCI5, Q8CJ19, Q8IY57, Q8N488, Q8VC52, Q921J4

Diamond homologs: A0A8I6G705, A1A6K6, B5DFF2, F4HWF9, G7ID19, Q01617, Q12926, Q28GD4, Q5R9Z6, Q60899, Q6DH13, Q6JB11, Q6ZRY4, Q8CH84, Q8H0P8, Q8VC52, Q91903, Q93062, Q9W6I1, Q9WVB0, Q9YGP5, O74452, P34761, Q15020, Q4WJT7, Q5REG1, P08579, Q8LGD5, Q9LS54, P09012, Q06AA4, Q07655, Q2KIR1, Q62189, Q9CQI7, B8AM21, P43332, P45429, Q10MR0, Q6JB10

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 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	5	12.6×	2e-03
Processing of Capped Intron-Containing Pre-mRNA	5	11.7×	2e-03
Keratinization	7	11.1×	4e-04
mRNA Splicing - Major Pathway	6	9.4×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of alternative mRNA splicing, via spliceosome	5	20.0×	7e-04
mRNA splicing, via spliceosome	7	10.5×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1191 predictions. Top by Δscore:

Variant	Effect	Δscore
15:64741171:A:AC	donor_gain	1.0000
15:64741172:C:CC	donor_gain	1.0000
15:64741200:T:TA	donor_gain	1.0000
15:64748998:A:AC	donor_gain	1.0000
15:64748999:C:CC	donor_gain	1.0000
15:64751558:CA:C	donor_loss	1.0000
15:64751559:A:AC	donor_gain	1.0000
15:64751560:C:A	donor_loss	1.0000
15:64751560:C:CC	donor_gain	1.0000
15:64751639:C:CA	acceptor_loss	1.0000
15:64751640:T:A	acceptor_loss	1.0000
15:64775234:T:TA	donor_gain	1.0000
15:64741184:CAGAA:C	donor_gain	0.9900
15:64741193:CGGTA:C	donor_gain	0.9900
15:64741201:C:A	donor_gain	0.9900
15:64741459:A:T	acceptor_gain	0.9900
15:64748413:GCTTA:G	donor_loss	0.9900
15:64748414:CTTA:C	donor_loss	0.9900
15:64748415:TTA:T	donor_loss	0.9900
15:64748416:TAC:T	donor_loss	0.9900
15:64748417:A:AC	donor_gain	0.9900
15:64748417:A:AG	donor_loss	0.9900
15:64748418:C:CC	donor_gain	0.9900
15:64748565:CAT:C	acceptor_gain	0.9900
15:64748568:C:CC	acceptor_gain	0.9900
15:64748568:CTA:C	acceptor_loss	0.9900
15:64748569:T:G	acceptor_loss	0.9900
15:64748927:C:A	donor_gain	0.9900
15:64748991:GCCAC:G	donor_loss	0.9900
15:64748992:CCACT:C	donor_loss	0.9900

AlphaMissense

1348 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:64749101:G:T	A106D	1.000
15:64749104:A:G	F105S	1.000
15:64749140:A:G	F93S	1.000
15:64749447:G:T	A84D	1.000
15:64749473:A:C	F75L	1.000
15:64749473:A:T	F75L	1.000
15:64749474:A:G	F75S	1.000
15:64749475:A:G	F75L	1.000
15:64749480:A:T	V73E	1.000
15:64749482:A:C	F72L	1.000
15:64749482:A:T	F72L	1.000
15:64749483:A:C	F72C	1.000
15:64749483:A:G	F72S	1.000
15:64749484:A:C	F72V	1.000
15:64749484:A:G	F72L	1.000
15:64749484:A:T	F72I	1.000
15:64749486:C:T	G71D	1.000
15:64749487:C:G	G71R	1.000
15:64751573:G:C	F51L	1.000
15:64751573:G:T	F51L	1.000
15:64751575:A:G	F51L	1.000
15:64751586:A:G	L47P	1.000
15:64751590:C:T	E46K	1.000
15:64751592:C:A	R45I	1.000
15:64751613:A:G	L38P	1.000
15:64751622:A:T	V35D	1.000
15:64751624:A:C	F34L	1.000
15:64751624:A:T	F34L	1.000
15:64751625:A:C	F34C	1.000
15:64751625:A:G	F34S	1.000

dbSNP variants (sampled 300 via entrez): RS1000117598 (15:64762421 C>T), RS1000196643 (15:64746131 A>G,T), RS1000327835 (15:64766203 G>A), RS1000392342 (15:64751116 C>T), RS1000402998 (15:64742648 A>G), RS1000447543 (15:64740580 G>A), RS1000453476 (15:64762060 C>T), RS1000542232 (15:64766935 G>A,C), RS1000609072 (15:64767143 A>C,G), RS1000611422 (15:64740592 G>C), RS1000767598 (15:64773430 C>G), RS1000813597 (15:64772885 T>G), RS1000908635 (15:64751056 C>A), RS1000915622 (15:64757103 T>A,C), RS1001069895 (15:64767256 T>C)

Disease associations

OMIM: gene MIM:619034 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST005195_34	Coronary artery disease	4.000000e-08
GCST005196_8	Coronary artery disease	1.000000e-08
GCST005232_36	Neuroticism	3.000000e-07
GCST010320_27	PR interval	1.000000e-09
GCST010321_44	PR interval	1.000000e-10
GCST010796_692	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST90002402_165	Platelet count	5.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0004462	PR interval
EFO:0004327	electrocardiography
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression, affects cotreatment	4
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, increases expression	3
Nickel	decreases expression, increases expression	3
Valproic Acid	increases expression, increases methylation, affects cotreatment	3
Aflatoxin B1	affects expression, decreases methylation, increases methylation	3
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, increases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Particulate Matter	increases abundance, increases expression	2
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases abundance, increases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	affects methylation	1
epigallocatechin gallate	increases expression	1
pentanal	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Zoledronic Acid	decreases expression	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1

Clinical trials (associated diseases)

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