RBM19

Summary

RBM19 (RNA binding motif protein 19, HGNC:29098) is a protein-coding gene on chromosome 12q24.13-q24.21, encoding Probable RNA-binding protein 19 (Q9Y4C8). Plays a role in embryo pre-implantation development. It is a common-essential gene (DepMap: required in 94.5% of cancer cell lines).

This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Source: NCBI Gene 9904 — RefSeq curated summary.

At a glance

• GWAS associations: 58
• Clinical variants (ClinVar): 225 total
• Cancer dependency (DepMap): dependent in 94.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_016196

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29098
Approved symbol	RBM19
Name	RNA binding motif protein 19
Location	12q24.13-q24.21
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp586F1023, KIAA0682, Mrd1
Ensembl gene	ENSG00000122965
Ensembl biotype	protein_coding
OMIM	616444
Entrez	9904

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 17 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000261741, ENST00000392561, ENST00000545145, ENST00000546876, ENST00000552384, ENST00000552386, ENST00000553232, ENST00000895029, ENST00000895030, ENST00000926824, ENST00000926825, ENST00000970403, ENST00000970404, ENST00000970406, ENST00000970407, ENST00000970408, ENST00000970410, ENST00000970412, ENST00000970413, ENST00000970414, ENST00000970415

RefSeq mRNA: 3 — MANE Select: NM_016196 NM_001146698, NM_001146699, NM_016196

CCDS: CCDS9172

Canonical transcript exons

ENST00000261741 — 24 exons

Exon	Start	End
ENSE00000755558	113844668	113844788
ENSE00000755559	113858791	113858896
ENSE00000755566	113927054	113927229
ENSE00000755567	113937007	113937136
ENSE00000755568	113939960	113940160
ENSE00000755569	113942324	113942434
ENSE00000755571	113946354	113946475
ENSE00000755572	113947334	113947464
ENSE00000755573	113948833	113949036
ENSE00000755575	113952512	113952590
ENSE00000835001	113945828	113945924
ENSE00000918018	113957782	113958050
ENSE00001003501	113959212	113959404
ENSE00001176559	113955131	113955211
ENSE00001201630	113950083	113950154
ENSE00001512380	113822057	113823321
ENSE00002255417	113966192	113966325
ENSE00003479651	113960059	113960178
ENSE00003490712	113920611	113920690
ENSE00003534007	113962232	113962414
ENSE00003569025	113959865	113959903
ENSE00003574974	113918392	113918447
ENSE00003616773	113924697	113924757
ENSE00003653974	113914969	113915085

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 94.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0621 / max 215.3042, expressed in 1810 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133379	19.8635	1810
133378	0.1986	70

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	94.45	gold quality
left lobe of thyroid gland	UBERON:0001120	90.96	gold quality
right lobe of thyroid gland	UBERON:0001119	90.89	gold quality
thyroid gland	UBERON:0002046	89.48	gold quality
right uterine tube	UBERON:0001302	89.44	gold quality
left ovary	UBERON:0002119	89.18	gold quality
apex of heart	UBERON:0002098	88.46	gold quality
lower esophagus mucosa	UBERON:0035834	88.32	gold quality
adrenal tissue	UBERON:0018303	88.31	gold quality
right ovary	UBERON:0002118	88.09	gold quality
metanephros cortex	UBERON:0010533	87.96	gold quality
left adrenal gland cortex	UBERON:0035825	87.55	gold quality
right adrenal gland cortex	UBERON:0035827	87.49	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.45	gold quality
body of uterus	UBERON:0009853	87.43	gold quality
lower esophagus	UBERON:0013473	87.42	gold quality
body of stomach	UBERON:0001161	87.33	gold quality
calcaneal tendon	UBERON:0003701	87.26	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	87.24	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.23	gold quality
adenohypophysis	UBERON:0002196	87.16	gold quality
left adrenal gland	UBERON:0001234	87.12	gold quality
right adrenal gland	UBERON:0001233	87.11	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.75	gold quality
body of pancreas	UBERON:0001150	86.66	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.66	gold quality
right frontal lobe	UBERON:0002810	86.57	gold quality
endocervix	UBERON:0000458	86.53	gold quality
tibial nerve	UBERON:0001323	86.42	gold quality
gastrocnemius	UBERON:0001388	86.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting RBM19, 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-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4531	99.99	69.70	3181
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-384	98.71	67.34	1229
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-326	98.25	66.44	1565
HSA-MIR-1285-3P	97.72	67.02	1932

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 94.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Primarily a zebrafish paper but shows an alignment of human RBM19 (PMID:12874115)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbm19	ENSDARG00000042590
mus_musculus	Rbm19	ENSMUSG00000029594
rattus_norvegicus	Rbm19	ENSRNOG00000001397
drosophila_melanogaster	CG3335	FBGN0036018
caenorhabditis_elegans		WBGENE00004315

Paralogs (36): DAZAP1 (ENSG00000071626), CIRBP (ENSG00000099622), RBM23 (ENSG00000100461), RBM3 (ENSG00000102317), NCL (ENSG00000115053), TIA1 (ENSG00000116001), HNRNPA2B1 (ENSG00000122566), 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 19 — Q9Y4C8 (reviewed: Q9Y4C8)

Alternative names: RNA-binding motif protein 19

All UniProt accessions (2): Q9Y4C8, H0YIL2

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in embryo pre-implantation development.

Subcellular location. Nucleus. Nucleolus. Nucleoplasm. Cytoplasm. Chromosome.

Tissue specificity. Expressed in the crypts of Lieberkuhn of the intestine and in intestinal neoplasia (at protein level).

Similarity. Belongs to the RRM MRD1 family.

RefSeq proteins (3): NP_001140170, NP_001140171, NP_057280* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR003954	RRM_euk-type	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034417	RMB19_RRM2	Domain
IPR034418	RMB19_RRM1	Domain
IPR034419	RBM19_RRM3	Domain
IPR034420	RBM19_RRM4	Domain
IPR034421	RBM19_RRM6	Domain
IPR034423	RBM19_RRM5	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR051945	RRM_MRD1_RNA_proc_ribogen	Family

Pfam: PF00076

UniProt features (37 total): domain 6, modified residue 6, sequence variant 6, strand 5, region of interest 4, compositionally biased region 4, sequence conflict 2, helix 2, chain 1, cross-link 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DGW	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y4C8-F1	70.72	0.33

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 (7): 174, 176, 180, 936, 949, 951, 481

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 140 (showing top): GGGNRMNNYCAT_UNKNOWN, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, CHEOK_RESPONSE_TO_MERCAPTOPURINE_AND_LD_MTX_UP, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, BASAKI_YBX1_TARGETS_UP, GOBP_EMBRYO_DEVELOPMENT, GOBP_REGULATION_OF_EMBRYONIC_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_POSITIVE_REGULATION_OF_EMBRYONIC_DEVELOPMENT, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOBP_REGULATION_OF_RNA_SPLICING, PARENT_MTOR_SIGNALING_UP, GOCC_NUCLEAR_SPECK

GO Biological Process (2): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), positive regulation of embryonic development (GO:0040019)

GO Molecular Function (3): RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676)

GO Cellular Component (7): nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytoplasm (GO:0005737), membrane (GO:0016020), nuclear speck (GO:0016607), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear lumen	2
intracellular membraneless organelle	2
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
embryo development	1
regulation of embryonic development	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
nucleic acid binding	1
RNA binding	1
binding	1
intracellular anatomical structure	1
nuclear ribonucleoprotein granule	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1946 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBM19	TBX3	O15119	870
RBM19	TBX5	Q99593	848
RBM19	SURF6	O75683	600
RBM19	SALL4	Q9UJQ4	548
RBM19	BYSL	Q13895	490
RBM19	PES1	O00541	487
RBM19	RBM11	P57052	487
RBM19	EMG1	Q92979	465
RBM19	MED13L	Q71F56	439
RBM19	NOM1	Q5C9Z4	433
RBM19	WDR12	Q9GZL7	425
RBM19	TBX18	O95935	423
RBM19	RBM45	Q8IUH3	422
RBM19	RBM17	Q96I25	417
RBM19	EYA2	O00167	410

IntAct

153 interactions, top by confidence:

A	B	Type	Score
LARP7	CCNT1	psi-mi:“MI:0914”(association)	0.850
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
NOL12	RRP8	psi-mi:“MI:0914”(association)	0.640
BYSL	PARN	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
FGF3	GTPBP10	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ZNF2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
ZBTB48	ZBTB24	psi-mi:“MI:0914”(association)	0.530
RPL7	ZBTB24	psi-mi:“MI:0914”(association)	0.530
ZCRB1	DKC1	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
THAP3	CASC3	psi-mi:“MI:0914”(association)	0.530
H2BC26	PPM1G	psi-mi:“MI:0914”(association)	0.530
H2AC20	PPM1G	psi-mi:“MI:0914”(association)	0.530
H1-4	RRP8	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530

BioGRID (285): RBM19 (Affinity Capture-RNA), RBM19 (Affinity Capture-MS), RBM19 (Affinity Capture-MS), RBM19 (Affinity Capture-MS), RBM19 (Affinity Capture-MS), RBM19 (Affinity Capture-MS), RBM19 (Affinity Capture-MS), RBM19 (Affinity Capture-MS), RBM19 (Affinity Capture-MS), RBM19 (Co-fractionation), RBM19 (Co-fractionation), RBM19 (Co-fractionation), RBM19 (Co-fractionation), RBM19 (Co-fractionation), RBM19 (Co-fractionation)

ESM2 similar proteins: A0A0K9RDW0, B4G3E2, C0HFE5, O81360, P35922, P51113, P82277, P86049, P93740, Q08BH5, Q0JCU7, Q0P4D6, Q12849, Q175F8, Q298C0, Q2KHP9, Q32P59, Q4R2Z0, Q56X76, Q5R8K3, Q5R9B4, Q5SP50, Q5TZF3, Q5VRY0, Q5XI81, Q6DJI9, Q6GLC9, Q6PBM8, Q6YWP9, Q80WE1, Q8BHN5, Q8C5Q4, Q8CFD1, Q8CGC6, Q8IUH3, Q8L440, Q8R3C6, Q8TBY0, Q8VYM4, Q8W4E1

Diamond homologs: A0A0D1C8Z4, A0A2R8Y4L2, A5A6H4, A7VJC2, D0VWM8, G5EFS2, O14979, O43347, O88569, O89086, O93235, O94432, P04256, P07909, P09405, P09651, P09867, P13383, P17130, P19338, P19682, P19683, P21522, P22626, P28644, P41891, P48809, P48810, P49312, P51968, P51989, P51990, P51991, P51992, P60824, P60825, P60826, P98179, Q02926, Q03878

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 143 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
SARS-CoV-1 modulates host translation machinery	7	25.7×	1e-07
Eukaryotic Translation Initiation	6	22.1×	3e-06
Cap-dependent Translation Initiation	6	22.1×	3e-06
Eukaryotic Translation Elongation	6	19.9×	6e-06
Nonsense-Mediated Decay (NMD)	7	19.4×	1e-06
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	6	19.4×	7e-06
Formation of the ternary complex, and subsequently, the 43S complex	7	18.0×	2e-06
rRNA modification in the nucleus and cytosol	8	17.8×	2e-07

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of DNA recombination	6	52.2×	1e-07
chromosome condensation	6	39.2×	6e-07
ribosomal small subunit biogenesis	12	21.2×	2e-10
cytoplasmic translation	12	17.2×	1e-09
ribosomal large subunit biogenesis	5	17.2×	6e-04
rRNA processing	12	13.2×	2e-08
translation	12	9.6×	5e-07
nucleosome assembly	8	8.7×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	180
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4118 predictions. Top by Δscore:

Variant	Effect	Δscore
12:113823227:CAG:C	donor_gain	1.0000
12:113823332:CCAGA:C	acceptor_gain	1.0000
12:113823333:C:T	acceptor_gain	1.0000
12:113844663:CCTAC:C	donor_loss	1.0000
12:113844664:CTAC:C	donor_loss	1.0000
12:113844665:TACCG:T	donor_loss	1.0000
12:113844667:C:A	donor_loss	1.0000
12:113858785:TCTCA:T	donor_loss	1.0000
12:113858786:CTCA:C	donor_loss	1.0000
12:113858787:TCA:T	donor_loss	1.0000
12:113858788:CA:C	donor_loss	1.0000
12:113858789:A:AC	donor_gain	1.0000
12:113858789:ACC:A	donor_loss	1.0000
12:113858790:C:CC	donor_gain	1.0000
12:113858798:T:TA	donor_gain	1.0000
12:113858892:AGGTG:A	acceptor_gain	1.0000
12:113858893:GGTG:G	acceptor_gain	1.0000
12:113858894:GTG:G	acceptor_gain	1.0000
12:113858895:TG:T	acceptor_gain	1.0000
12:113858896:GCTA:G	acceptor_loss	1.0000
12:113858897:C:CC	acceptor_gain	1.0000
12:113858897:CTAG:C	acceptor_loss	1.0000
12:113858904:C:CT	acceptor_gain	1.0000
12:113914964:CTCA:C	donor_loss	1.0000
12:113914965:TCA:T	donor_loss	1.0000
12:113914966:CA:C	donor_loss	1.0000
12:113914967:ACCTG:A	donor_loss	1.0000
12:113914968:C:A	donor_loss	1.0000
12:113915081:CTGGC:C	acceptor_gain	1.0000
12:113915086:C:CC	acceptor_gain	1.0000

AlphaMissense

6349 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:113844728:A:G	W909R	0.999
12:113844728:A:T	W909R	0.999
12:113858821:A:C	F878L	0.999
12:113858821:A:T	F878L	0.999
12:113858823:A:G	F878L	0.999
12:113858827:G:C	F876L	0.999
12:113858827:G:T	F876L	0.999
12:113858829:A:G	F876L	0.999
12:113955159:A:G	L298P	0.999
12:113844726:C:A	W909C	0.998
12:113844726:C:G	W909C	0.998
12:113844745:C:G	R903P	0.998
12:113844758:G:C	H899D	0.997
12:113858825:C:T	G877D	0.997
12:113915013:G:C	N838K	0.997
12:113915013:G:T	N838K	0.997
12:113915020:A:T	V836E	0.997
12:113920662:A:C	F778L	0.997
12:113920662:A:T	F778L	0.997
12:113920664:A:G	F778L	0.997
12:113920666:C:T	G777E	0.997
12:113942403:G:T	A553D	0.997
12:113947404:G:T	A446E	0.997
12:113948889:C:G	R407P	0.997
12:113950142:A:T	V338E	0.997
12:113952544:C:G	R323P	0.997
12:113844739:A:G	L905P	0.996
12:113844784:G:T	A890D	0.996
12:113858796:C:G	A887P	0.996
12:113858812:G:C	F881L	0.996

dbSNP variants (sampled 300 via entrez): RS1000010669 (12:113953901 A>C,G), RS1000029100 (12:113859205 A>C,T), RS1000029572 (12:113917319 C>T), RS1000061596 (12:113954190 C>T), RS1000062588 (12:113877816 T>C), RS1000079007 (12:113959677 T>A,C), RS1000094557 (12:113840958 C>G), RS1000142302 (12:113922023 C>A), RS1000157775 (12:113844587 C>A,T), RS1000172284 (12:113922263 T>A), RS1000198772 (12:113966456 G>A,T), RS1000203685 (12:113959121 T>C), RS1000205261 (12:113883088 T>A,G), RS1000205663 (12:113828163 C>T), RS1000207888 (12:113844329 G>A,C)

Disease associations

OMIM: gene MIM:616444 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

58 associations (top):

Study	Trait	p-value
GCST002337_96	Amyotrophic lateral sclerosis (sporadic)	6.000000e-06
GCST003074_26	Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging)	1.000000e-06
GCST003139_18	Glomerular filtration rate in chronic kidney disease	3.000000e-06
GCST003518_38	Daytime sleep phenotypes	2.000000e-06
GCST003518_64	Daytime sleep phenotypes	5.000000e-07
GCST004765_8	Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes	4.000000e-07
GCST005412_3	Thrombin-activatable fibrinolysis inhibitor levels	5.000000e-07
GCST005769_3	Body mass index	3.000000e-06
GCST006143_6	Bone mineral density (total hip)	2.000000e-06
GCST006218_24	Erosive tooth wear (severe vs non-severe)	1.000000e-08
GCST007325_137	General risk tolerance (MTAG)	1.000000e-10
GCST007327_51	Smoking status (ever vs never smokers)	1.000000e-08
GCST007576_275	Chronotype	3.000000e-08
GCST008659_1	Lung function in heavy smokers (low FEV1 vs high FEV1)	1.000000e-08
GCST009391_1191	Metabolite levels	8.000000e-06
GCST010118_87	Type 2 diabetes	4.000000e-08
GCST010796_101	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_102	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_103	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_104	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_105	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_106	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-11
GCST010796_107	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-10
GCST010796_108	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_109	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_110	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_111	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-09
GCST010796_112	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_113	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_114	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0007707	cerebral amyloid deposition measurement
EFO:0007828	daytime rest measurement
EFO:0007806	total cholesterol change measurement
EFO:0004340	body mass index
EFO:0007702	hip bone mineral density
EFO:0008579	risk-taking behaviour
EFO:0004318	smoking behavior
EFO:0008328	chronotype measurement
EFO:0004314	forced expiratory volume
EFO:0021575	adipic acid measurement
EFO:0004327	electrocardiography
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	3
Air Pollutants	affects expression, increases abundance, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
cylindrospermopsin	increases expression	1
monomethylarsonous acid	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
bisphenol S	decreases methylation	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	affects response to substance	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Vehicle Emissions	decreases expression, decreases reaction	1
Benzo(a)pyrene	decreases methylation	1
Carmustine	affects response to substance	1
Cisplatin	decreases expression	1
Doxorubicin	increases expression	1
Methapyrilene	decreases methylation	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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