RBMS1

Summary

RBMS1 (RNA binding motif single stranded interacting protein 1, HGNC:9907) is a protein-coding gene on chromosome 2q24.2, encoding RNA-binding motif, single-stranded-interacting protein 1 (P29558). Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene.

This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12.

Source: NCBI Gene 5937 — RefSeq curated summary.

At a glance

• GWAS associations: 46
• Clinical variants (ClinVar): 61 total — 1 pathogenic
• MANE Select transcript: NM_016836

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9907
Approved symbol	RBMS1
Name	RNA binding motif single stranded interacting protein 1
Location	2q24.2
Locus type	gene with protein product
Status	Approved
Aliases	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764
Ensembl gene	ENSG00000153250
Ensembl biotype	protein_coding
OMIM	602310
Entrez	5937

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 16 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000348849, ENST00000409075, ENST00000409289, ENST00000409972, ENST00000428519, ENST00000464200, ENST00000474147, ENST00000474820, ENST00000475103, ENST00000477486, ENST00000477965, ENST00000490637, ENST00000491781, ENST00000492283, ENST00000851245, ENST00000851246, ENST00000851247, ENST00000851248, ENST00000851249, ENST00000851250, ENST00000851251, ENST00000851252, ENST00000851253, ENST00000851254, ENST00000958094

RefSeq mRNA: 2 — MANE Select: NM_016836 NM_002897, NM_016836

CCDS: CCDS2213

Canonical transcript exons

ENST00000348849 — 14 exons

Exon	Start	End
ENSE00001888069	160272151	160274764
ENSE00002037352	160493289	160493807
ENSE00003509870	160281314	160281364
ENSE00003510042	160318169	160318227
ENSE00003522333	160286969	160287084
ENSE00003523783	160284995	160285044
ENSE00003525034	160277303	160277383
ENSE00003533767	160275630	160275714
ENSE00003541951	160313156	160313247
ENSE00003567123	160278548	160278658
ENSE00003578923	160367216	160367391
ENSE00003605886	160303330	160303487
ENSE00003614579	160284775	160284868
ENSE00003650090	160300651	160300730

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 99.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.9633 / max 89.2489, expressed in 1668 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31494	11.5166	1603
31488	7.9633	1668
31492	5.5547	1523
31493	1.1571	673
31485	0.7759	378
31487	0.5343	230
31486	0.4107	174
31489	0.3760	176

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cauda epididymis	UBERON:0004360	99.07	gold quality
oviduct epithelium	UBERON:0004804	99.02	gold quality
left ventricle myocardium	UBERON:0006566	99.02	gold quality
decidua	UBERON:0002450	98.93	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.92	gold quality
pericardium	UBERON:0002407	98.88	gold quality
buccal mucosa cell	CL:0002336	98.75	gold quality
tendon of biceps brachii	UBERON:0008188	98.68	gold quality
upper arm skin	UBERON:0004263	98.61	gold quality
placenta	UBERON:0001987	98.55	gold quality
kidney epithelium	UBERON:0004819	98.51	gold quality
myocardium	UBERON:0002349	98.28	gold quality
metanephric glomerulus	UBERON:0004736	98.23	gold quality
skin of hip	UBERON:0001554	97.89	gold quality
calcaneal tendon	UBERON:0003701	97.77	gold quality
tendon	UBERON:0000043	97.75	gold quality
synovial joint	UBERON:0002217	97.75	gold quality
smooth muscle tissue	UBERON:0001135	97.65	gold quality
lower lobe of lung	UBERON:0008949	97.65	gold quality
vena cava	UBERON:0004087	97.64	gold quality
saphenous vein	UBERON:0007318	97.63	gold quality
layer of synovial tissue	UBERON:0007616	97.61	gold quality
superficial temporal artery	UBERON:0001614	97.36	gold quality
trigeminal ganglion	UBERON:0001675	97.34	gold quality
trabecular bone tissue	UBERON:0002483	97.11	gold quality
caput epididymis	UBERON:0004358	97.11	gold quality
dorsal root ganglion	UBERON:0000044	97.01	gold quality
mammary duct	UBERON:0001765	96.94	gold quality
epithelium of mammary gland	UBERON:0003244	96.91	gold quality
peritoneum	UBERON:0002358	96.85	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	26.90
E-ANND-3	yes	17.65
E-HCAD-10	yes	16.30
E-HCAD-4	yes	16.03
E-HCAD-35	yes	8.74
E-ENAD-27	yes	6.62
E-MTAB-6678	yes	4.88
E-MTAB-10290	no	349.41

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BHLHE40, GATA3, HIF1A

miRNA regulators (miRDB)

113 targeting RBMS1, 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-4668-3P	100.00	68.74	2635
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4267	99.96	66.53	2368
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6809-3P	99.91	71.45	3814

Literature-anchored findings (GeneRIF, showing 8)

• study showed that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 were significantly associated with type 2 diabetes in the Chinese population (PMID:30188962)
• RBMS1 Suppresses Colon Cancer Metastasis through Targeted Stabilization of Its mRNA Regulon. (PMID:32513775)
• Loss of RBMS1 as a regulatory target of miR-106b influences cell growth, gap closing and colony forming in prostate carcinoma. (PMID:33093529)
• Hinge like domain motion facilitates human RBMS1 protein binding to proto-oncogene c-myc promoter. (PMID:33999211)
• RBMS1 regulates lung cancer ferroptosis through translational control of SLC7A11. (PMID:34609966)
• Circular RNA Rbms1 inhibited the development of myocardial ischemia reperfusion injury by regulating miR-92a/BCL2L11 signaling pathway. (PMID:35068339)
• Polymorphisms in risk genes of type 2 diabetes mellitus could be also markers of susceptibility to periodontitis. (PMID:36058090)
• RBMS1 Coordinates with the m[6]A Reader YTHDF1 to Promote NSCLC Metastasis through Stimulating S100P Translation. (PMID:38342601)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbms1a	ENSDARG00000074023
mus_musculus	Rbms1	ENSMUSG00000026970
rattus_norvegicus	Rbms1	ENSRNOG00000008482

Paralogs (24): ELAVL1 (ENSG00000066044), PABPC1 (ENSG00000070756), RBMS2 (ENSG00000076067), PABPC4 (ENSG00000090621), PABPC1L (ENSG00000101104), ELAVL2 (ENSG00000107105), RBM24 (ENSG00000112183), TARDBP (ENSG00000120948), HNRNPR (ENSG00000125944), RBM38 (ENSG00000132819), SYNCRIP (ENSG00000135316), SF3B4 (ENSG00000143368), RBMS3 (ENSG00000144642), PABPC3 (ENSG00000151846), RBM45 (ENSG00000155636), ELAVL4 (ENSG00000162374), PABPC5 (ENSG00000174740), PUF60 (ENSG00000179950), PABPC1L2B (ENSG00000184388), PABPC1L2A (ENSG00000186288), RBM34 (ENSG00000188739), ELAVL3 (ENSG00000196361), RBM14 (ENSG00000239306), PABPC4L (ENSG00000254535)

Protein

Protein identifiers

RNA-binding motif, single-stranded-interacting protein 1 — P29558 (reviewed: P29558)

Alternative names: Single-stranded DNA-binding protein MSSP-1, Suppressor of CDC2 with RNA-binding motif 2

All UniProt accessions (5): A0A0S2Z4B3, B4DN88, E7EPF2, E7ETU5, P29558

UniProt curated annotations — full annotation on UniProt →

Function. Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5’-[AT]CT[AT][AT]T-3’. Probably has a role in DNA replication.

Subcellular location. Nucleus.

Tissue specificity. Highest amounts are found in placenta, lung and heart.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (3)

UniProt ID	Names	Canonical?
P29558-1	1	yes
P29558-2	2
P29558-4	4, MSSP-2

RefSeq proteins (2): NP_002888, NP_058520* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR002343	Hud_Sxl_RNA	Family
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034404	MSSP1_RRM1	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (28 total): strand 9, helix 7, splice variant 3, domain 2, sequence conflict 2, chain 1, turn 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6M75	X-RAY DIFFRACTION	2.57
1X5O	SOLUTION NMR
7C36	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P29558-F1	63.78	0.35

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): 208

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 346 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, CREL_01, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, YAATNRNNNYNATT_UNKNOWN, WWTAAGGC_UNKNOWN, CCAWYNNGAAR_UNKNOWN, AMIT_DELAYED_EARLY_GENES, RORA1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, TGACCTY_ERR1_Q2, HNF1_Q6, HUMMERICH_SKIN_CANCER_PROGRESSION_UP, COUP_01, MARTINEZ_RB1_TARGETS_UP

GO Biological Process (2): DNA replication (GO:0006260), RNA processing (GO:0006396)

GO Molecular Function (9): double-stranded DNA binding (GO:0003690), single-stranded DNA binding (GO:0003697), RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), poly(A) binding (GO:0008143), poly(U) RNA binding (GO:0008266), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), ribonucleoprotein complex (GO:1990904)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA binding	2
nucleic acid binding	2
binding	2
DNA metabolic process	1
DNA biosynthetic process	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
mRNA binding	1
poly-purine tract binding	1
poly-pyrimidine tract binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular anatomical structure	1
protein-containing complex	1

Protein interactions and networks

STRING

940 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBMS1	CR2	P20023	737
RBMS1	MYC	P01106	690
RBMS1	FCER2	P06734	640
RBMS1	C3	P01024	589
RBMS1	ITGB6	P18564	556
RBMS1	CD46	P15529	544
RBMS1	NFYC	Q13952	479
RBMS1	CR1	P17927	475
RBMS1	NFYB	P25208	445
RBMS1	PTBP3	O95758	431
RBMS1	IFNA2	P01563	425
RBMS1	IFNA17	P01571	425
RBMS1	CD55	P08174	419
RBMS1	C4A	P01028	400
RBMS1	CFHR5	Q9BXR6	399

IntAct

50 interactions, top by confidence:

A	B	Type	Score
FAM136A	RBFOX3	psi-mi:“MI:0914”(association)	0.640
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
LPXN	PCNT	psi-mi:“MI:0914”(association)	0.640
TFCP2	RBMS1	psi-mi:“MI:0915”(physical association)	0.560
RBMS1	TFCP2	psi-mi:“MI:0915”(physical association)	0.560
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
AGO1	AIP	psi-mi:“MI:0914”(association)	0.530
H1-4	RRP8	psi-mi:“MI:0914”(association)	0.530
H1-1	SURF6	psi-mi:“MI:0914”(association)	0.530
PRR3	MRPS14	psi-mi:“MI:0914”(association)	0.530
SRSF3	CASC3	psi-mi:“MI:0914”(association)	0.530
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
E4	MCRIP1	psi-mi:“MI:0914”(association)	0.350
NBEAL2	HAX1	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
rep	ZNF609	psi-mi:“MI:0914”(association)	0.350
BMI1	MEIS3P1	psi-mi:“MI:0914”(association)	0.350
RYBP	FAM186A	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
PRR3	ZNF316	psi-mi:“MI:0914”(association)	0.350
RRS1		psi-mi:“MI:0914”(association)	0.350
SRSF3		psi-mi:“MI:0914”(association)	0.350
RBMS2	ZNF275	psi-mi:“MI:0914”(association)	0.350
	POLR3A	psi-mi:“MI:0914”(association)	0.350

BioGRID (275): TFCP2 (Two-hybrid), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Two-hybrid), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IEW8, A0JM51, A4QNI8, O09032, O57406, P26378, P29558, Q08E07, Q0V9L3, Q14576, Q15434, Q1RMJ7, Q28GD4, Q3ZBP3, Q3ZC34, Q4R535, Q5NVC8, Q5PQP1, Q5R995, Q5RBD3, Q5SZQ8, Q60899, Q60900, Q61701, Q62176, Q6DGV1, Q6DIV4, Q6XE24, Q6YZW2, Q7SZT7, Q7T3I7, Q7TN33, Q7TSY6, Q7ZWM3, Q8BWL5, Q8CH84, Q8CIN6, Q8N6W0, Q8VC70, Q8VXZ9

Diamond homologs: A0A0D1DWZ5, A0JM51, A1CRM1, A1D4K4, A2A5N3, A2Q848, A3LXL0, A4IIM2, A4QUF0, A5DW14, F4HT49, O04319, O14102, O22173, O57406, O64380, O95319, O97018, P04147, P0CB38, P0CP46, P0CP47, P20965, P21187, P28659, P29558, P31209, P32588, P39697, P42731, P60047, P60048, P60049, P60050, Q08E07, Q09442, Q0CR95, Q0U1G2, Q13310, Q15427

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 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.

GO biological processes:

GO term	Partners	Fold	FDR
regulation of alternative mRNA splicing, via spliceosome	5	22.2×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	46
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
814334	GRCh37/hg19 2q24.1-24.2(chr2:158925958-162489191)x1	Pathogenic

SpliceAI

3882 predictions. Top by Δscore:

Variant	Effect	Δscore
2:160275643:A:AC	donor_gain	1.0000
2:160275644:T:C	donor_gain	1.0000
2:160277268:ATAG:A	donor_gain	1.0000
2:160278546:A:AC	donor_gain	1.0000
2:160278547:C:CA	donor_gain	1.0000
2:160278547:CTGTT:C	donor_gain	1.0000
2:160278580:T:C	donor_gain	1.0000
2:160281310:TTA:T	donor_loss	1.0000
2:160281312:A:AC	donor_gain	1.0000
2:160281313:C:A	donor_loss	1.0000
2:160281313:C:CC	donor_gain	1.0000
2:160281313:CA:C	donor_gain	1.0000
2:160281313:CAG:C	donor_gain	1.0000
2:160281313:CAGG:C	donor_gain	1.0000
2:160281363:ACCTA:A	acceptor_loss	1.0000
2:160281364:CCTAG:C	acceptor_loss	1.0000
2:160281365:CTAG:C	acceptor_loss	1.0000
2:160281366:T:A	acceptor_loss	1.0000
2:160285040:CCAGC:C	acceptor_gain	1.0000
2:160285041:CAGCC:C	acceptor_gain	1.0000
2:160285042:AGCC:A	acceptor_loss	1.0000
2:160285043:GCCT:G	acceptor_loss	1.0000
2:160285044:CCTAT:C	acceptor_loss	1.0000
2:160285045:C:CA	acceptor_loss	1.0000
2:160285045:C:CC	acceptor_gain	1.0000
2:160285046:T:G	acceptor_loss	1.0000
2:160286967:A:AC	donor_gain	1.0000
2:160286968:C:CC	donor_gain	1.0000
2:160286968:CAAGT:C	donor_gain	1.0000
2:160287081:GGGG:G	acceptor_gain	1.0000

AlphaMissense

2662 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:160287052:C:G	D225H	1.000
2:160287054:G:T	A224D	1.000
2:160287059:C:A	K222N	1.000
2:160287059:C:G	K222N	1.000
2:160287061:T:C	K222E	1.000
2:160287062:A:C	C221W	1.000
2:160287063:C:T	C221Y	1.000
2:160287064:A:G	C221R	1.000
2:160287069:A:G	L219S	1.000
2:160300698:A:T	I198N	1.000
2:160300701:A:T	V197D	1.000
2:160300709:A:C	C194W	1.000
2:160300710:C:A	C194F	1.000
2:160300710:C:T	C194Y	1.000
2:160300711:A:G	C194R	1.000
2:160300723:A:G	S190P	1.000
2:160300728:A:C	M188R	1.000
2:160300730:C:A	R187S	1.000
2:160300730:C:G	R187S	1.000
2:160303330:C:A	R187M	1.000
2:160303330:C:G	R187T	1.000
2:160303331:T:A	R187W	1.000
2:160303331:T:C	R187G	1.000
2:160303333:G:T	A186D	1.000
2:160303334:C:G	A186P	1.000
2:160303335:A:C	F185L	1.000
2:160303335:A:T	F185L	1.000
2:160303336:A:C	F185C	1.000
2:160303336:A:G	F185S	1.000
2:160303337:A:C	F185V	1.000

dbSNP variants (sampled 300 via entrez): RS1000005547 (2:160396520 C>A), RS1000009410 (2:160391295 G>A,C), RS1000014191 (2:160340703 T>G), RS1000022482 (2:160350623 A>G), RS1000022829 (2:160304834 A>G), RS1000032540 (2:160490001 A>T), RS1000066429 (2:160341053 T>A,G), RS1000066606 (2:160446970 C>T), RS1000071333 (2:160389794 CTAGTT>C), RS1000079612 (2:160347672 T>C), RS1000082799 (2:160384090 G>A,C), RS1000085419 (2:160491344 T>C), RS1000106980 (2:160309627 A>C), RS1000110781 (2:160312059 A>G), RS1000113832 (2:160354555 G>A)

Disease associations

OMIM: gene MIM:602310 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

46 associations (top):

Study	Trait	p-value
GCST000406_16	Amyotrophic lateral sclerosis	9.000000e-06
GCST000665_1	Type 2 diabetes	4.000000e-08
GCST000984_1	Idiopathic membranous nephropathy	9.000000e-29
GCST004609_149	Monocyte percentage of white cells	3.000000e-10
GCST004610_47	White blood cell count	4.000000e-09
GCST004627_85	Lymphocyte count	4.000000e-22
GCST004632_133	Lymphocyte percentage of white cells	4.000000e-12
GCST005047_37	Type 2 diabetes	2.000000e-06
GCST005316_157	Intelligence (MTAG)	4.000000e-09
GCST005316_158	Intelligence (MTAG)	4.000000e-08
GCST005413_10	Type 2 diabetes	6.000000e-08
GCST006624_10	Systolic blood pressure	4.000000e-11
GCST006867_15	Type 2 diabetes	1.000000e-11
GCST007277_3	Tourette syndrome	2.000000e-07
GCST007429_66	Lung function (FVC)	2.000000e-07
GCST007430_24	Peak expiratory flow	3.000000e-11
GCST007432_4	FEV1	7.000000e-13
GCST007576_228	Chronotype	3.000000e-08
GCST008152_188	Weight	9.000000e-06
GCST008871_13	Basal cell carcinoma	5.000000e-08
GCST009379_239	Type 2 diabetes	1.000000e-11
GCST009505_1	Weight	3.000000e-07
GCST010002_402	Refractive error	8.000000e-10
GCST010242_245	HDL cholesterol levels	1.000000e-08
GCST010244_343	Triglyceride levels	3.000000e-08
GCST010988_191	Adult body size	8.000000e-09
GCST010989_206	Body size at age 10	2.000000e-10
GCST012231_180	A body shape index	9.000000e-09
GCST90000047_72	Age at first sexual intercourse	2.000000e-08
GCST90002385_452	High light scatter reticulocyte count	9.000000e-17

EFO canonical traits (20, from GWAS)

EFO ID	Trait name
EFO:0007989	monocyte percentage of leukocytes
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004337	intelligence
EFO:0006335	systolic blood pressure
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0008328	chronotype measurement
EFO:0004338	body weight
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0007789	BMI-adjusted waist circumference
EFO:0009749	age at first sexual intercourse measurement
EFO:0007986	reticulocyte count
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007874	gut microbiome measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tretinoin	affects expression, increases expression	3
bisphenol A	decreases expression	2
entinostat	decreases expression, affects cotreatment	2
Resveratrol	affects cotreatment, decreases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
Estradiol	decreases reaction, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
sodium arsenite	affects methylation	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
ciglitazone	affects binding, increases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
clothianidin	decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
jinfukang	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Irinotecan	decreases response to substance	1
Arsenic	affects expression	1
Benzene	affects expression	1
Cadmium	affects expression	1
Caffeine	increases phosphorylation	1

Clinical trials (associated diseases)

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