RBMS3

Summary

RBMS3 (RNA binding motif single stranded interacting protein 3, HGNC:13427) is a protein-coding gene on chromosome 3p24.1, encoding RNA-binding motif, single-stranded-interacting protein 3 (Q6XE24). Binds poly(A) and poly(U) oligoribonucleotides.

This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. 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. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 27303 — RefSeq curated summary.

At a glance

• GWAS associations: 35
• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_001003793

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13427
Approved symbol	RBMS3
Name	RNA binding motif single stranded interacting protein 3
Location	3p24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000144642
Ensembl biotype	protein_coding
OMIM	605786
Entrez	27303

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 24 protein_coding, 9 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000273139, ENST00000383766, ENST00000383767, ENST00000432518, ENST00000434693, ENST00000443912, ENST00000445033, ENST00000445077, ENST00000452462, ENST00000456853, ENST00000471426, ENST00000473799, ENST00000478716, ENST00000497205, ENST00000497274, ENST00000497319, ENST00000636582, ENST00000636680, ENST00000636900, ENST00000637842, ENST00000874343, ENST00000874344, ENST00000874345, ENST00000874346, ENST00000874347, ENST00000874348, ENST00000914497, ENST00000963905, ENST00000963906, ENST00000963907, ENST00000963908, ENST00000963909, ENST00000963910, ENST00000963911, ENST00000963912, ENST00000963913

RefSeq mRNA: 6 — MANE Select: NM_001003793 NM_001003792, NM_001003793, NM_001177711, NM_001177712, NM_001330696, NM_014483

CCDS: CCDS33724, CCDS33725, CCDS33726, CCDS54557, CCDS54558, CCDS87056

Canonical transcript exons

ENST00000383767 — 15 exons

Exon	Start	End
ENSE00000966263	29739720	29739877
ENSE00000966264	29762910	29762989
ENSE00001498556	29991082	29991209
ENSE00001715236	29434743	29434915
ENSE00001874951	30003856	30010386
ENSE00001880817	29281071	29281756
ENSE00003484933	29884162	29884208
ENSE00003537010	29988143	29988223
ENSE00003541579	29868858	29868964
ENSE00003557037	29587114	29587205
ENSE00003585988	29897379	29897475
ENSE00003628808	29488441	29488499
ENSE00003630978	29944207	29944254
ENSE00003660641	29936086	29936196
ENSE00003667457	29899705	29899755

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 98.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3026 / max 132.4564, expressed in 1240 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35801	3.3697	931
35802	1.0899	659
35803	0.7178	426
35805	0.4078	220
35800	0.4053	200
35804	0.3875	179
35791	0.3650	120
35799	0.2169	105
35798	0.1306	48
35815	0.1131	64

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trigeminal ganglion	UBERON:0001675	98.70	gold quality
pericardium	UBERON:0002407	98.58	gold quality
calcaneal tendon	UBERON:0003701	98.51	gold quality
saphenous vein	UBERON:0007318	98.45	gold quality
dorsal root ganglion	UBERON:0000044	98.23	gold quality
sural nerve	UBERON:0015488	97.83	gold quality
mammary duct	UBERON:0001765	97.49	gold quality
synovial joint	UBERON:0002217	97.17	gold quality
vena cava	UBERON:0004087	97.13	gold quality
cauda epididymis	UBERON:0004360	96.60	gold quality
lower lobe of lung	UBERON:0008949	96.59	gold quality
caput epididymis	UBERON:0004358	96.50	gold quality
urethra	UBERON:0000057	96.40	gold quality
buccal mucosa cell	CL:0002336	96.10	gold quality
nipple	UBERON:0002030	95.60	gold quality
corpus epididymis	UBERON:0004359	95.54	gold quality
superficial temporal artery	UBERON:0001614	95.09	gold quality
tendon	UBERON:0000043	94.98	gold quality
visceral pleura	UBERON:0002401	94.38	gold quality
parietal pleura	UBERON:0002400	93.97	gold quality
seminal vesicle	UBERON:0000998	93.96	gold quality
pleura	UBERON:0000977	93.12	gold quality
epithelium of mammary gland	UBERON:0003244	92.44	gold quality
popliteal artery	UBERON:0002250	92.19	gold quality
tibial artery	UBERON:0007610	92.17	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.15	gold quality
tibia	UBERON:0000979	92.11	gold quality
aorta	UBERON:0000947	92.01	gold quality
colonic epithelium	UBERON:0000397	91.96	gold quality
artery	UBERON:0001637	91.95	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	4949.44
E-GEOD-131882	yes	4780.47
E-HCAD-35	yes	3937.91
E-CURD-119	yes	3095.97
E-HCAD-25	yes	2506.36
E-GEOD-84465	yes	7.38
E-MTAB-6678	yes	4.63
E-ANND-2	no	5993.10
E-GEOD-70580	no	874.01
E-MTAB-7051	no	684.88
E-MTAB-10290	no	130.67
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
CDH1	Activation
VIM	Repression

Upstream regulators (CollecTRI, top): CTCF

miRNA regulators (miRDB)

394 targeting RBMS3, 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-4768-5P	100.00	69.49	2861
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707

Literature-anchored findings (GeneRIF, showing 20)

• These results suggest that RBMS3, by binding Prx1 mRNA in a sequence-specific manner, controls Prx1 expression and indirectly collagen synthesis. (PMID:17586524)
• a tumor suppression function for the human RBMS3 gene in esophageal squamous cell carcinoma, acting through c-Myc downregulation, with genetic loss of this gene contributing to poor outcomes in disease (PMID:21844183)
• genetic susceptibility plays a role in the pathophysiology of Bisphosphonate-related osteonecrosis of the jaw (BRONJ), with RBMS3 having a significant effect in the risk. (PMID:22267851)
• RBMS3 at 3p24 inhibits nasopharyngeal carcinoma development via inhibiting cell proliferation, angiogenesis, and inducing apoptosis (PMID:22957092)
• one interacting gene pair (RBMS3 versus ZNF516) which, even after Bonferroni correction for multiple testing, showed consistently significant effects on hip bone mineral density. (PMID:23045156)
• RBMS3 is a novel tumor suppressor gene in lung squamous cell carcinoma (PMID:25588924)
• We identified rs117026326 on GTF2I with GWAS significance (P = 1.10 x 10(-15)) and rs13079920 on RBMS3 with suggestive significance (P = 2.90 x 10(-5)) associating with Primary Sjogren’s syndrome in women. (PMID:27503288)
• These findings implicated that RBMS3 and nuclear HIF1A could act as prognostic biomarkers and therapeutic targets for GC. (PMID:27902480)
• RBMS3 inhibited the proliferation and tumorigenesis of breast cancer cells, at least in part, through inactivation of the Wnt/beta-catenin signaling pathway (PMID:28409548)
• Results indicate that genetic ablation of RNA binding motif single stranded interacting protein 3 (RBMS3) contributes to chemoresistance RBMS3-deleted epithelial ovarian cancer (EOC). (PMID:30279231)
• our study revealed a novel mechanism of the RBMS3/Twsit1/MMP2 axis in the regulation of invasion and metastasis of breast cancer (PMID:30819235)
• RBMS3 delays disc degeneration by inhibiting Wnt/beta-catenin signaling pathway. (PMID:32016951)
• Increased expression of RBMS3 predicts a favorable prognosis in human gallbladder carcinoma. (PMID:32627033)
• LncRNA MEG3 regulates breast cancer proliferation and apoptosis through miR-141-3p/RBMS3 axis. (PMID:33845141)
• Tumor Suppressor Effect of RBMS3 in Breast Cancer. (PMID:33910421)
• RNA binding protein RBMS3 is a common EMT effector that modulates triple-negative breast cancer progression via stabilizing PRRX1 mRNA. (PMID:34608266)
• Comprehensive bioinformatics analysis confirms RBMS3 as the central candidate biological target for ovarian cancer. (PMID:36075788)
• Disruption of RBMS3 suppresses PD-L1 and enhances antitumor immune activities and therapeutic effects of auranofin against triple-negative breast cancer. (PMID:36414028)
• Expression of RBMS3 in Breast Cancer Progression. (PMID:36769184)
• The RNA-binding protein RBMS3 inhibits the progression of colon cancer by regulating the stability of LIMS1 mRNA. (PMID:38618967)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbms3	ENSDARG00000044574
mus_musculus	Rbms3	ENSMUSG00000039607
rattus_norvegicus	Rbms3	ENSRNOG00000025881

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), PABPC3 (ENSG00000151846), RBMS1 (ENSG00000153250), 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 3 — Q6XE24 (reviewed: Q6XE24)

All UniProt accessions (5): Q6XE24, A0A1B0GTI7, A0A1B0GUW5, C9J9B2, C9JIJ9

UniProt curated annotations — full annotation on UniProt →

Function. Binds poly(A) and poly(U) oligoribonucleotides.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in fetal brain, fetal lung, fetal liver, heart, brain, placenta, lung, liver, muscle, kidney and pancreas.

Isoforms (5)

UniProt ID	Names	Canonical?
Q6XE24-1	1, DD23-L	yes
Q6XE24-2	2
Q6XE24-3	3, DD23-S
Q6XE24-4	4
Q6XE24-5	5

RefSeq proteins (6): NP_001003792, NP_001003793, NP_001171182, NP_001171183, NP_001317625, NP_055298 (=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
IPR034406	RBMS3_RRM2	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (16 total): splice variant 5, sequence conflict 3, compositionally biased region 3, domain 2, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6XE24-F1	63.30	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 335 (showing top): RNGTGGGC_UNKNOWN, AAGCAAT_MIR137, PAX4_01, AP4_Q6, MEF2_02, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, MORF_RAD51L3, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_TRANSLATION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, MODULE_66, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION

GO Biological Process (5): defense response to tumor cell (GO:0002357), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), positive regulation of translation (GO:0045727), negative regulation of canonical Wnt signaling pathway (GO:0090090)

GO Molecular Function (6): mRNA 3’-UTR binding (GO:0003730), poly(A) binding (GO:0008143), poly(U) RNA binding (GO:0008266), mRNA 3’-UTR AU-rich region binding (GO:0035925), nucleic acid binding (GO:0003676), RNA binding (GO:0003723)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), ribonucleoprotein complex (GO:1990904)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gene expression	2
regulation of gene expression	2
cellular anatomical structure	2
response to tumor cell	1
defense response	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
translation	1
regulation of translation	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
negative regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
regulation of canonical Wnt signaling pathway	1
mRNA binding	1
poly-purine tract binding	1
poly-pyrimidine tract binding	1
mRNA 3’-UTR binding	1
binding	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
protein-containing complex	1

Protein interactions and networks

STRING

892 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBMS3	TLCD5	Q6ZRR5	676
RBMS3	MYC	P01106	670
RBMS3	CLEC19A	Q6UXS0	545
RBMS3	SLC15A4	Q8N697	472
RBMS3	TMEM236	Q5W0B7	463
RBMS3	ZMYM5	Q9UJ78	444
RBMS3	IQSEC3	Q9UPP2	431
RBMS3	TM9SF2	Q99805	420
RBMS3	AGPAT1	Q99943	418
RBMS3	POMP	Q9Y244	417
RBMS3	SART3	Q15020	413
RBMS3	FJX1	Q86VR8	407
RBMS3	ARHGEF17	Q96PE2	405
RBMS3	PABPC1	P11940	396
RBMS3	KLHL14	Q9P2G3	388

IntAct

9 interactions, top by confidence:

A	B	Type	Score
MAPT	MEX3A	psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
RBMS3	SART3	psi-mi:“MI:0914”(association)	0.350
RBMS3		psi-mi:“MI:0914”(association)	0.350
AGO1	ZNF316	psi-mi:“MI:0914”(association)	0.350
IFIT5	CAND2	psi-mi:“MI:0914”(association)	0.350
THUMPD3	USP12	psi-mi:“MI:0914”(association)	0.350
	NFIB	psi-mi:“MI:0914”(association)	0.350

BioGRID (61): MRPL9 (Affinity Capture-MS), SART3 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), ICT1 (Affinity Capture-MS), NGRN (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPS18A (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), NGRN (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), SART3 (Affinity Capture-MS), RBMS3 (Affinity Capture-MS), RBMS3 (Affinity Capture-RNA)

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	4
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

1100 predictions. Top by Δscore:

Variant	Effect	Δscore
3:29281753:CAAG:C	donor_loss	0.9900
3:29281754:AAG:A	donor_loss	0.9900
3:29281755:AGGT:A	donor_loss	0.9900
3:29281756:GGTAT:G	donor_loss	0.9900
3:29281757:G:C	donor_loss	0.9900
3:29290427:A:G	donor_gain	0.9700
3:29304612:TCAC:T	donor_gain	0.9700
3:29281710:T:G	donor_gain	0.9600
3:29304528:G:GT	donor_gain	0.9600
3:29281614:G:GT	donor_gain	0.9500
3:29281719:A:AG	donor_gain	0.9500
3:29281720:G:GG	donor_gain	0.9500
3:29291126:T:G	donor_gain	0.9400
3:29333707:GCA:G	acceptor_gain	0.9400
3:29384918:A:AG	acceptor_gain	0.9400
3:29385061:AAAAG:A	donor_gain	0.9400
3:29296083:G:GT	donor_gain	0.9300
3:29335104:T:G	acceptor_gain	0.9200
3:29288332:T:G	acceptor_gain	0.9000
3:29304523:G:GG	donor_gain	0.8900
3:29281967:A:T	donor_gain	0.8800
3:29288331:A:AG	acceptor_gain	0.8800
3:29304520:GAC:G	donor_gain	0.8700
3:29350766:A:AC	acceptor_gain	0.8600
3:29372873:A:AG	acceptor_gain	0.8600
3:29372874:G:GG	acceptor_gain	0.8600
3:29366538:GC:G	donor_gain	0.8400
3:29304522:C:G	donor_gain	0.8300
3:29383756:TTC:T	donor_gain	0.8300
3:29372874:GT:G	acceptor_gain	0.8200

AlphaMissense

2888 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:29434842:A:C	S59R	1.000
3:29434843:G:T	S59I	1.000
3:29434844:T:A	S59R	1.000
3:29434844:T:G	S59R	1.000
3:29434849:C:T	T61I	1.000
3:29434851:A:C	N62H	1.000
3:29434851:A:G	N62D	1.000
3:29434851:A:T	N62Y	1.000
3:29434852:A:T	N62I	1.000
3:29434853:C:A	N62K	1.000
3:29434853:C:G	N62K	1.000
3:29434855:T:A	L63Q	1.000
3:29434855:T:C	L63P	1.000
3:29434855:T:G	L63R	1.000
3:29434857:T:A	Y64N	1.000
3:29434857:T:C	Y64H	1.000
3:29434857:T:G	Y64D	1.000
3:29434858:A:C	Y64S	1.000
3:29434858:A:G	Y64C	1.000
3:29434861:T:A	I65N	1.000
3:29434861:T:C	I65T	1.000
3:29434861:T:G	I65S	1.000
3:29434864:G:C	R66P	1.000
3:29434866:G:C	G67R	1.000
3:29434870:T:A	L68H	1.000
3:29434870:T:C	L68P	1.000
3:29434870:T:G	L68R	1.000
3:29434887:G:C	D74H	1.000
3:29434887:G:T	D74Y	1.000
3:29434888:A:G	D74G	1.000

dbSNP variants (sampled 300 via entrez): RS1000010051 (3:29692277 C>T), RS1000019323 (3:29653943 C>A), RS1000020865 (3:29450665 T>A), RS1000026058 (3:29664579 G>T), RS1000026546 (3:29826038 G>A), RS1000026816 (3:29324062 T>C), RS1000027995 (3:29970739 C>G), RS1000028453 (3:29454707 A>T), RS1000029275 (3:29984326 G>A), RS1000033528 (3:29397903 A>G), RS1000035090 (3:29785847 T>A,C), RS1000036168 (3:29371835 C>T), RS1000041608 (3:29874187 A>G), RS1000042676 (3:29952347 C>T), RS1000045064 (3:29600200 A>G)

Disease associations

OMIM: gene MIM:605786 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

35 associations (top):

Study	Trait	p-value
GCST000092_8	Bone mineral density	3.000000e-06
GCST001585_9	Breast size	9.000000e-06
GCST001786_31	Dental caries	5.000000e-06
GCST002431_7	Response to radiotherapy in cancer (late toxicity)	3.000000e-06
GCST003263_36	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_37	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_38	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003484_5	Periodontal disease-related phenotype (Socransky)	5.000000e-08
GCST003542_51	Night sleep phenotypes	8.000000e-06
GCST004749_98	Lung cancer in ever smokers	1.000000e-06
GCST005025_39	Anti-saccade response	5.000000e-06
GCST005231_26	Major depressive disorder	4.000000e-06
GCST005576_27	Intracranial aneurysm	2.000000e-06
GCST005653_1	Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction)	7.000000e-06
GCST006220_1	Basal ganglia growth	3.000000e-06
GCST006482_13	Lung function (FEV1/FVC)	5.000000e-08
GCST006482_22	Lung function (FEV1/FVC)	2.000000e-08
GCST006482_23	Lung function (FEV1/FVC)	5.000000e-08
GCST006627_76	Diastolic blood pressure	4.000000e-09
GCST006976_74	Macular thickness	1.000000e-09
GCST006979_56	Heel bone mineral density	4.000000e-20
GCST007201_135	Schizophrenia	3.000000e-07
GCST007201_394	Schizophrenia	2.000000e-07
GCST007250_5	Nonunion in individuals with fractures	4.000000e-07
GCST007431_83	Lung function (FEV1/FVC)	9.000000e-24
GCST007692_97	Chronic obstructive pulmonary disease	2.000000e-08
GCST007943_6	Medication use (antihistamines for systemic use)	8.000000e-10
GCST008163_267	Height	1.000000e-06
GCST008476_7	Emphysema annual change measurement in smokers (percent low attenuation area)	3.000000e-06
GCST009266_3	Dental caries (decayed and filled deciduous tooth surfaces)	1.000000e-06

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0007780	periodontal measurement
EFO:0006874	antisaccade response measurement
EFO:0003959	cleft lip
EFO:0009113	alcohol exposure measurement
EFO:0004713	FEV/FVC ratio
EFO:0006336	diastolic blood pressure
EFO:0009270	heel bone mineral density
EFO:0009707	fractures, ununited
EFO:0009943	Antihistamine use measurement
EFO:0007626	emphysema imaging measurement
EFO:0007969	cognitive inhibition measurement
EFO:0007874	gut microbiome measurement
EFO:0005213	central corneal thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs17024608	Efficacy	3	Bisphosphonates	Osteonecrosis

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17024608	RBMS3	3	0.00	1	Bisphosphonates
rs73044680	RBMS3		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	8
sodium arsenite	decreases expression, increases abundance, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
bisphenol A	decreases expression, decreases methylation, affects cotreatment, increases methylation	2
mercuric bromide	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation, increases mutagenesis	2
Estradiol	affects expression, affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Tretinoin	increases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
geldanamycin	increases expression	1
sulforaphane	decreases expression	1
butyraldehyde	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	decreases expression	1
aflatoxin B2	increases methylation	1
nickel sulfate	decreases expression	1
beta-methylcholine	affects expression	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases 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, increases expression	1
abrine	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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