RBM45

Summary

RBM45 (RNA binding motif protein 45, HGNC:24468) is a protein-coding gene on chromosome 2q31.2, encoding RNA-binding protein 45 (Q8IUH3). RNA-binding protein with binding specificity for poly(C).

This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer’s patients. A pseudogene has been identified on chromosome 8.

Source: NCBI Gene 129831 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 49 total — 1 pathogenic
• MANE Select transcript: NM_152945

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24468
Approved symbol	RBM45
Name	RNA binding motif protein 45
Location	2q31.2
Locus type	gene with protein product
Status	Approved
Aliases	DRB1, FLJ44612
Ensembl gene	ENSG00000155636
Ensembl biotype	protein_coding
OMIM	608888
Entrez	129831

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000286070, ENST00000424000, ENST00000424099, ENST00000455903, ENST00000464647, ENST00000493048, ENST00000861654, ENST00000861655, ENST00000861656, ENST00000861657, ENST00000861658, ENST00000861659, ENST00000914888, ENST00000953979, ENST00000953980, ENST00000953981

RefSeq mRNA: 3 — MANE Select: NM_152945 NM_001365578, NM_001365579, NM_152945

CCDS: CCDS33335

Canonical transcript exons

ENST00000286070 — 10 exons

Exon	Start	End
ENSE00001599529	178129397	178129656
ENSE00003485966	178121180	178121359
ENSE00003502876	178120287	178120409
ENSE00003511988	178116262	178116384
ENSE00003600239	178125984	178126184
ENSE00003627896	178118055	178118181
ENSE00003629898	178123522	178123651
ENSE00003645975	178124127	178124290
ENSE00003651320	178123828	178123912
ENSE00003849806	178112437	178112846

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 88.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.2426 / max 87.5144, expressed in 1801 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23921	11.5832	1796
23922	1.3885	851
23923	0.2709	118

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	88.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.95	gold quality
right lobe of thyroid gland	UBERON:0001119	85.79	gold quality
secondary oocyte	CL:0000655	85.74	gold quality
rectum	UBERON:0001052	85.56	gold quality
body of pancreas	UBERON:0001150	85.33	gold quality
right lung	UBERON:0002167	85.20	gold quality
right uterine tube	UBERON:0001302	85.19	gold quality
left lobe of thyroid gland	UBERON:0001120	85.05	gold quality
calcaneal tendon	UBERON:0003701	85.01	gold quality
adenohypophysis	UBERON:0002196	84.97	gold quality
spleen	UBERON:0002106	84.87	gold quality
monocyte	CL:0000576	84.84	gold quality
leukocyte	CL:0000738	84.78	gold quality
granulocyte	CL:0000094	84.76	gold quality
right adrenal gland cortex	UBERON:0035827	84.67	gold quality
body of uterus	UBERON:0009853	84.66	gold quality
descending thoracic aorta	UBERON:0002345	84.56	gold quality
left coronary artery	UBERON:0001626	84.47	gold quality
thyroid gland	UBERON:0002046	84.43	gold quality
tibial nerve	UBERON:0001323	84.34	gold quality
right ovary	UBERON:0002118	84.28	gold quality
ascending aorta	UBERON:0001496	84.27	gold quality
pituitary gland	UBERON:0000007	84.25	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.25	gold quality
thoracic aorta	UBERON:0001515	84.24	gold quality
transverse colon	UBERON:0001157	84.05	gold quality
right adrenal gland	UBERON:0001233	84.01	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting RBM45, 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-196A-1-3P	99.99	72.15	2772
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-374B-3P	98.63	68.24	1360
HSA-MIR-4718	98.55	68.61	814
HSA-MIR-1246	98.54	66.21	959
HSA-MIR-4704-3P	98.28	69.33	1300
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-4521	97.73	67.64	684

Literature-anchored findings (GeneRIF, showing 12)

• a new member of RRM-type neural RNA-binding protein (PMID:12220514)
• This study demonistrated that RBM45 protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients. (PMID:22993125)
• Data indicate that RNA binding protein RBM45/Kelch-like ECH-associated protein 1 (KEAP1) interactions in amyotrophic lateral sclerosis (ALS) spinal cord. (PMID:25939382)
• RMB45 may function as a homo-oligomer and that its oligomerization contributes to ALS/FTLD RNA-binding protein aggregation. (PMID:26391765)
• Analysis of the biological processes and pathways associated with RBM45-interacting proteins indicates enrichment for nuclear RNA processing/splicing via association with hnRNP proteins and cytoplasmic RNA translation via eiF2 and eiF4 pathways. (PMID:26979993)
• using an in vitro cellular model, we demonstrated that Drb1 co-localizes with cytoplasmic aggregates mediated by TAR DNA-binding protein 43 (PMID:27226551)
• Results suggest that RBM45 serves as a negative regulator to prevent FUS-mediated excessive recruitment of HDAC1 to the sites of DNA damage. (PMID:29140459)
• RNA Binding Motif Protein RBM45 Regulates Expression of the 11-Kilodalton Protein of Parvovirus B19 through Binding to Novel Intron Splicing Enhancers. (PMID:32156816)
• Structural basis for RNA recognition by the N-terminal tandem RRM domains of human RBM45. (PMID:33577684)
• Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis. (PMID:34118419)
• Molecular basis of ssDNA recognition by RBM45 protein of neurodegenerative disease from multiple molecular dynamics simulations and energy predictions. (PMID:36435031)
• RBM45 reprograms lipid metabolism promoting hepatocellular carcinoma via Rictor and ACSL1/ACSL4. (PMID:38040804)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbm45	ENSDARG00000063731
mus_musculus	Rbm45	ENSMUSG00000042369
rattus_norvegicus	Rbm45	ENSRNOG00000010595
drosophila_melanogaster	CG1316	FBGN0035526

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), RBMS1 (ENSG00000153250), ELAVL4 (ENSG00000162374), PABPC5 (ENSG00000174740), PUF60 (ENSG00000179950), PABPC1L2B (ENSG00000184388), PABPC1L2A (ENSG00000186288), RBM34 (ENSG00000188739), ELAVL3 (ENSG00000196361), RBM14 (ENSG00000239306), PABPC4L (ENSG00000254535)

Protein

Protein identifiers

RNA-binding protein 45 — Q8IUH3 (reviewed: Q8IUH3)

Alternative names: Developmentally-regulated RNA-binding protein 1, RNA-binding motif protein 45

All UniProt accessions (3): Q8IUH3, H7BZE0, H7C476

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein with binding specificity for poly(C). May play an important role in neural development.

Subcellular location. Cytoplasm. Nucleus.

Miscellaneous. May be due to an intron retention.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IUH3-1	1	yes
Q8IUH3-2	2
Q8IUH3-3	3

RefSeq proteins (3): NP_001352507, NP_001352508, NP_694453* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034203	RBM45_RRM1	Domain
IPR034206	RBM45_RRM2	Domain
IPR034207	RBM45_RRM3	Domain
IPR034208	RBM45_RRM4	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR052462	SLIRP/GR-RBP-like	Family

Pfam: PF00076

UniProt features (37 total): strand 13, helix 11, domain 3, splice variant 3, turn 2, modified residue 2, chain 1, region of interest 1, cross-link 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8WQ5	X-RAY DIFFRACTION	1.65
7CSZ	X-RAY DIFFRACTION	1.8
8WQ3	X-RAY DIFFRACTION	2.41
7CSX	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUH3-F1	75.01	0.43

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 (3): 199, 464, 34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 84 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GHO_ATF5_TARGETS_UP, ATGCTGG_MIR338, ZHANG_BREAST_CANCER_PROGENITORS_UP, GOCC_RIBONUCLEOPROTEIN_COMPLEX, CAGCTTT_MIR320, SCGGAAGY_ELK1_02, VANLOO_SP3_TARGETS_UP, GSE13946_CTRL_VS_DSS_COLITIS_GD_TCELL_FROM_COLON_DN, GSE13547_CTRL_VS_ANTI_IGM_STIM_BCELL_12H_UP, CHAMP1_TARGET_GENES, DIDO1_TARGET_GENES, ELF2_TARGET_GENES

GO Biological Process (2): nervous system development (GO:0007399), cell differentiation (GO:0030154)

GO Molecular Function (4): RNA binding (GO:0003723), identical protein binding (GO:0042802), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), ribonucleoprotein complex (GO:1990904)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
system development	1
cellular developmental process	1
nucleic acid binding	1
protein binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
protein-containing complex	1

Protein interactions and networks

STRING

2666 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBM45	RBFOX3	A6NFN3	892
RBM45	NES	P48681	749
RBM45	DRC2	Q8IXS2	741
RBM45	TARDBP	Q13148	623
RBM45	HNRNPDL	O14979	581
RBM45	Q5Y7H0	Q5Y7H0	574
RBM45	HNRNPC	P07910	558
RBM45	SLC4A1AP	Q9BWU0	471
RBM45	HLA-DPB1	P01916	451
RBM45	SNW1	Q13573	450
RBM45	HLA-DRB1	P01911	436
RBM45	GRSF1	Q12849	426
RBM45	RBM19	Q9Y4C8	422
RBM45	AMMECR1L	Q6DCA0	417
RBM45	TRA2A	Q13595	409

IntAct

94 interactions, top by confidence:

A	B	Type	Score
RBM45	HNRNPA1	psi-mi:“MI:0914”(association)	0.740
RBM45	HNRNPA1	psi-mi:“MI:0915”(physical association)	0.740
RBM45	HNRNPA1	psi-mi:“MI:0403”(colocalization)	0.740
TANC2	TAX1BP3	psi-mi:“MI:0914”(association)	0.690
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
FAM120A	SYNCRIP	psi-mi:“MI:0914”(association)	0.640
WBP4	RBM45	psi-mi:“MI:0915”(physical association)	0.620
RBM45	HNRNPL	psi-mi:“MI:0915”(physical association)	0.580
RBM45	MATR3	psi-mi:“MI:0915”(physical association)	0.580
RBM45	HNRNPL	psi-mi:“MI:0403”(colocalization)	0.580
RBM45	MATR3	psi-mi:“MI:0403”(colocalization)	0.580
TRAF1	RBM45	psi-mi:“MI:0915”(physical association)	0.560
RBM45	FANCL	psi-mi:“MI:0915”(physical association)	0.560
RBM45	TXN2	psi-mi:“MI:0915”(physical association)	0.560
RBM45	MEMO1	psi-mi:“MI:0915”(physical association)	0.560
RBM45	TRAF1	psi-mi:“MI:0915”(physical association)	0.560
FANCL	RBM45	psi-mi:“MI:0915”(physical association)	0.560
TXN2	RBM45	psi-mi:“MI:0915”(physical association)	0.560
MEMO1	RBM45	psi-mi:“MI:0915”(physical association)	0.560
RBM45	RBM14	psi-mi:“MI:0915”(physical association)	0.560
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
DEF6	ARHGAP42	psi-mi:“MI:0914”(association)	0.530
PSG8	PEX7	psi-mi:“MI:0914”(association)	0.530
ZFC3H1	HNRNPCL1	psi-mi:“MI:0914”(association)	0.530

BioGRID (251): RBM45 (Two-hybrid), RBM45 (Two-hybrid), RBM45 (Two-hybrid), RBM45 (Two-hybrid), RBM45 (Two-hybrid), RBM45 (Affinity Capture-MS), RBM45 (Affinity Capture-MS), RBM45 (Affinity Capture-MS), ECT2 (Affinity Capture-MS), KIF22 (Affinity Capture-MS), PPM1G (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), AFG3L2 (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), PUM2 (Affinity Capture-MS)

ESM2 similar proteins: A2Y0J7, B5DF91, B8AM21, O22922, O95758, P09012, P17225, P26368, P26369, P26599, P43332, P45429, P70372, Q00438, Q06AA4, Q08E07, Q0DKM4, Q10MR0, Q12926, Q14576, Q15717, Q24562, Q28FX0, Q29099, Q2KIR1, Q39244, Q54J05, Q5R9Z6, Q5SZQ8, Q60899, Q60900, Q62189, Q66H20, Q6GLB5, Q8BHD7, Q8BHN5, Q8CFD1, Q8CH84, Q8CIN6, Q8H1S6

Diamond homologs: A0A0R4IEW8, A4QNI8, A8NS61, A8WLV5, B3M3R5, B3NGA1, B4HUE4, B4IX08, B4KX02, B4LFQ9, B4MM23, B4PIS2, B4QRJ0, B5DF91, B8BCZ8, O01671, O04425, O09032, O17310, O61374, O75821, O89086, O97018, P16914, P19339, P19683, P23241, P26378, P28644, P29558, P49310, P60824, P60825, P60826, P70372, P98179, Q04836, Q12926, Q14011, Q14498

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 99 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 Splicing	9	17.3×	2e-07
Processing of Capped Intron-Containing Pre-mRNA	12	17.3×	1e-09
mRNA Polyadenylation	9	13.9×	1e-06
mRNA Splicing - Major Pathway	13	12.5×	4e-09
Dengue Virus-Host Interactions	11	8.8×	2e-06
Metabolism of RNA	10	7.3×	5e-05

GO biological processes:

GO term	Partners	Fold	FDR
regulation of alternative mRNA splicing, via spliceosome	7	20.4×	7e-06
mRNA transport	6	18.8×	7e-05
RNA processing	7	18.2×	1e-05
mRNA splicing, via spliceosome	11	12.0×	8e-07
negative regulation of translation	5	11.7×	4e-03
RNA splicing	10	10.5×	7e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	34
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	Pathogenic

SpliceAI

1660 predictions. Top by Δscore:

Variant	Effect	Δscore
2:178116385:GT:G	donor_loss	1.0000
2:178118051:TTA:T	acceptor_loss	1.0000
2:178118052:TAG:T	acceptor_loss	1.0000
2:178118053:A:AG	acceptor_gain	1.0000
2:178118054:G:GG	acceptor_gain	1.0000
2:178118054:GGT:G	acceptor_gain	1.0000
2:178118054:GGTGT:G	acceptor_gain	1.0000
2:178118177:TCGAA:T	donor_gain	1.0000
2:178118178:CGAAG:C	donor_loss	1.0000
2:178118179:G:GT	donor_gain	1.0000
2:178118179:GAA:G	donor_gain	1.0000
2:178118179:GAAGT:G	donor_loss	1.0000
2:178118180:AA:A	donor_gain	1.0000
2:178118180:AAG:A	donor_loss	1.0000
2:178118181:AG:A	donor_loss	1.0000
2:178118182:G:GG	donor_gain	1.0000
2:178118183:T:C	donor_loss	1.0000
2:178118187:G:GT	donor_gain	1.0000
2:178121170:A:AG	acceptor_gain	1.0000
2:178121171:T:G	acceptor_gain	1.0000
2:178123516:TTTTA:T	acceptor_loss	1.0000
2:178123517:TTTAG:T	acceptor_loss	1.0000
2:178123518:TTA:T	acceptor_loss	1.0000
2:178123519:TAGG:T	acceptor_loss	1.0000
2:178123520:A:AG	acceptor_gain	1.0000
2:178123520:AGG:A	acceptor_loss	1.0000
2:178123521:G:A	acceptor_loss	1.0000
2:178123521:G:GG	acceptor_gain	1.0000
2:178123521:GGTC:G	acceptor_gain	1.0000
2:178123650:GA:G	donor_gain	1.0000

AlphaMissense

3123 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:178112622:A:C	S26R	1.000
2:178112623:G:T	S26I	1.000
2:178112624:C:A	S26R	1.000
2:178112624:C:G	S26R	1.000
2:178112625:C:A	R27S	1.000
2:178112625:C:G	R27G	1.000
2:178112626:G:C	R27P	1.000
2:178112631:T:C	F29L	1.000
2:178112632:T:C	F29S	1.000
2:178112633:C:A	F29L	1.000
2:178112633:C:G	F29L	1.000
2:178112638:T:A	V31E	1.000
2:178112680:T:C	F45S	1.000
2:178112692:G:T	G49V	1.000
2:178112744:G:C	K66N	1.000
2:178112744:G:T	K66N	1.000
2:178112745:G:C	G67R	1.000
2:178112746:G:A	G67D	1.000
2:178112751:G:C	A69P	1.000
2:178112752:C:A	A69D	1.000
2:178112754:T:C	F70L	1.000
2:178112755:T:C	F70S	1.000
2:178112756:C:A	F70L	1.000
2:178112756:C:G	F70L	1.000
2:178112758:T:A	V71D	1.000
2:178112760:A:G	K72E	1.000
2:178112764:T:C	F73S	1.000
2:178112782:C:A	A79D	1.000
2:178112784:T:C	C80R	1.000
2:178112790:G:C	A82P	1.000

dbSNP variants (sampled 300 via entrez): RS1000027279 (2:178125082 C>G,T), RS1000052194 (2:178131683 G>T), RS1000119321 (2:178130014 T>A,C), RS1000282348 (2:178117749 A>G), RS1000389593 (2:178111169 C>T), RS1000438015 (2:178116945 T>C), RS1000465874 (2:178137387 A>G), RS1000488951 (2:178137699 T>C), RS1000719747 (2:178131289 A>G), RS1000739815 (2:178136641 A>G), RS1001037249 (2:178115636 A>T), RS1001158687 (2:178116652 A>G,T), RS1001483358 (2:178131141 G>A), RS1001568134 (2:178118839 G>C), RS1001615958 (2:178111530 G>A,C,T)

Disease associations

OMIM: gene MIM:608888 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST001198_81	Multiple sclerosis	1.000000e-132
GCST001198_82	Multiple sclerosis	1.000000e-11
GCST001198_83	Multiple sclerosis	4.000000e-10
GCST001198_85	Multiple sclerosis	2.000000e-07
GCST001200_6	Graves’ disease	7.000000e-33
GCST004564_205	Waist circumference adjusted for BMI in active individuals	1.000000e-06
GCST004564_206	Waist circumference adjusted for BMI in active individuals	1.000000e-06
GCST005752_101	Systemic lupus erythematosus	2.000000e-07
GCST005752_102	Systemic lupus erythematosus	1.000000e-11
GCST005752_103	Systemic lupus erythematosus	3.000000e-39
GCST005752_104	Systemic lupus erythematosus	5.000000e-15
GCST005752_81	Systemic lupus erythematosus	4.000000e-17
GCST005752_82	Systemic lupus erythematosus	5.000000e-10
GCST005752_83	Systemic lupus erythematosus	2.000000e-109
GCST005752_84	Systemic lupus erythematosus	2.000000e-15
GCST005752_85	Systemic lupus erythematosus	6.000000e-06
GCST005752_86	Systemic lupus erythematosus	7.000000e-07
GCST005752_87	Systemic lupus erythematosus	8.000000e-07
GCST005752_88	Systemic lupus erythematosus	8.000000e-14
GCST005752_89	Systemic lupus erythematosus	5.000000e-13
GCST005752_90	Systemic lupus erythematosus	7.000000e-07
GCST005752_91	Systemic lupus erythematosus	3.000000e-17
GCST010002_405	Refractive error	1.000000e-70
GCST011537_51	Immunoglobulin A vasculitis	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:1000965	Henoch-Schoenlein purpura

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
Valproic Acid	increases expression, decreases expression	2
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Niclosamide	decreases expression	1
Ozone	affects expression, increases abundance	1
Quercetin	decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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