RBM6

Summary

RBM6 (RNA binding motif protein 6, HGNC:9903) is a protein-coding gene on chromosome 3p21.31, encoding RNA-binding protein 6 (P78332). Specifically binds poly(G) RNA homopolymers in vitro.

Enables RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be active in nucleus.

Source: NCBI Gene 10180 — RefSeq curated summary.

At a glance

• GWAS associations: 53
• Clinical variants (ClinVar): 162 total
• MANE Select transcript: NM_005777

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9903
Approved symbol	RBM6
Name	RNA binding motif protein 6
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Aliases	DEF-3, 3G2, NY-LU-12, g16, DEF3
Ensembl gene	ENSG00000004534
Ensembl biotype	protein_coding
OMIM	606886
Entrez	10180

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 13 protein_coding, 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 4 retained_intron

ENST00000266022, ENST00000419610, ENST00000421682, ENST00000422955, ENST00000425608, ENST00000433811, ENST00000434592, ENST00000438912, ENST00000441115, ENST00000442092, ENST00000443081, ENST00000446471, ENST00000454079, ENST00000464013, ENST00000466247, ENST00000478026, ENST00000483350, ENST00000488807, ENST00000491874, ENST00000493652, ENST00000858028, ENST00000858029, ENST00000858030, ENST00000931422, ENST00000931423, ENST00000947579

RefSeq mRNA: 7 — MANE Select: NM_005777 NM_001167582, NM_001349190, NM_001349191, NM_001349192, NM_001349193, NM_001349194, NM_005777

CCDS: CCDS2809, CCDS54586

Canonical transcript exons

ENST00000266022 — 21 exons

Exon	Start	End
ENSE00001081152	49967470	49968748
ENSE00001230367	49940150	49940225
ENSE00001767645	50077008	50077249
ENSE00003466420	50059649	50059746
ENSE00003484698	50048245	50048319
ENSE00003486709	49999440	49999513
ENSE00003489566	50075201	50075330
ENSE00003500221	50066242	50066502
ENSE00003501459	50065031	50065126
ENSE00003519079	50057728	50058003
ENSE00003540704	50054335	50054395
ENSE00003549771	50061140	50061221
ENSE00003552575	49975323	49975392
ENSE00003555363	50060956	50060998
ENSE00003569056	49962576	49962685
ENSE00003595925	50070455	50070552
ENSE00003619950	50068690	50068764
ENSE00003649649	50058402	50058562
ENSE00003651849	50061462	50061547
ENSE00003693925	49972059	49972148
ENSE00003694632	50061962	50062108

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 98.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.9829 / max 334.5969, expressed in 1814 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36666	23.4053	1806
36663	3.8202	1518
36664	1.7668	961
36662	1.7358	1032
36665	1.4867	917
36667	0.4573	91
36668	0.3107	125

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.72	gold quality
endocervix	UBERON:0000458	98.57	gold quality
mucosa of stomach	UBERON:0001199	98.55	gold quality
right uterine tube	UBERON:0001302	98.55	gold quality
right ovary	UBERON:0002118	98.52	gold quality
granulocyte	CL:0000094	98.46	gold quality
cerebellar hemisphere	UBERON:0002245	98.46	gold quality
body of uterus	UBERON:0009853	98.45	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.44	gold quality
left ovary	UBERON:0002119	98.42	gold quality
adenohypophysis	UBERON:0002196	98.41	gold quality
left lobe of thyroid gland	UBERON:0001120	98.35	gold quality
cerebellar cortex	UBERON:0002129	98.35	gold quality
right lobe of thyroid gland	UBERON:0001119	98.29	gold quality
body of pancreas	UBERON:0001150	98.28	gold quality
apex of heart	UBERON:0002098	98.27	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.26	gold quality
sural nerve	UBERON:0015488	98.25	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.25	gold quality
lower esophagus	UBERON:0013473	98.20	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.20	gold quality
left testis	UBERON:0004533	98.17	gold quality
tibial nerve	UBERON:0001323	98.14	gold quality
right testis	UBERON:0004534	98.12	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.10	gold quality
right adrenal gland cortex	UBERON:0035827	98.07	gold quality
left uterine tube	UBERON:0001303	98.02	gold quality
metanephros cortex	UBERON:0010533	97.91	gold quality
upper lobe of left lung	UBERON:0008952	97.81	gold quality
right adrenal gland	UBERON:0001233	97.77	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-97	no	1927.62
E-MTAB-9801	no	5.42
E-CURD-112	no	2.11
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting RBM6, 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-12136	99.98	72.81	5713
HSA-MIR-5688	99.96	73.23	4504
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-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-3168	99.08	67.75	1384
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-503-5P	97.87	66.83	575

Literature-anchored findings (GeneRIF, showing 7)

• identified a novel fusion of the RNA binding motif 6 (RBM6) gene to CSF1R gene generated presumably by a t(3;5)(p21;q33) translocation that induced a myeloid proliferative disease with features of megakaryoblastic leukemia in a murine transplant model (PMID:17360941)
• RBM6 mRNA experiences altered co-transcriptional gene regulation in certain cancers. RBM6-RBM5 transcription-induced chimerism might be a process that is linked to the tumour-associated increased transcriptional activity of the RBM6 gene (PMID:17908320)
• Antagonizes the effects of RBM5, RBM6, and RBM10 in cell colony formation. (PMID:24332178)
• Upregulation of RBM6 reduced the expression of EGFR, ERK and p-ERK in vitro and in vivo. Data suggest that RBM6 as a tumor suppressor represses the growth and progression in laryngocarcinoma. (PMID:30772516)
• RNA-Binding Motif Protein 6 is a Candidate Serum Biomarker for Pancreatic Cancer (PMID:31207145)
• RNA-binding protein RBM6 acts as a tumor suppressor gene to inhibit the progression of hepatocellular carcinoma. (PMID:34076986)
• RBM6 splicing factor promotes homologous recombination repair of double-strand breaks and modulates sensitivity to chemotherapeutic drugs. (PMID:34718714)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbm6	ENSDARG00000077060
mus_musculus	Rbm6	ENSMUSG00000032582
rattus_norvegicus	Rbm6	ENSRNOG00000018333
drosophila_melanogaster	CG4887	FBGN0031318
drosophila_melanogaster	CG4896	FBGN0031319
caenorhabditis_elegans	rbm-5	WBGENE00020346

Paralogs (2): RBM5 (ENSG00000003756), RBM10 (ENSG00000182872)

Protein

Protein identifiers

RNA-binding protein 6 — P78332 (reviewed: P78332)

Alternative names: Lung cancer antigen NY-LU-12, Protein G16, RNA-binding motif protein 6, RNA-binding protein DEF-3

All UniProt accessions (9): P78332, C9J250, C9JII0, C9JMC8, C9JSL1, E9PGM9, F8WCA5, F8WCT0, F8WF63

UniProt curated annotations — full annotation on UniProt →

Function. Specifically binds poly(G) RNA homopolymers in vitro.

Subunit / interactions. May interact with FAM168B.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous in adults.

Isoforms (3)

UniProt ID	Names	Canonical?
P78332-1	1	yes
P78332-2	2
P78332-3	3

RefSeq proteins (7): NP_001161054, NP_001336119, NP_001336120, NP_001336121, NP_001336122, NP_001336123, NP_005768* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000467	G_patch_dom	Domain
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034123	RBM6_RRM1	Domain
IPR034125	RBM6_RRM2	Domain
IPR035617	RBM6_OCRE	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR041591	OCRE	Domain

Pfam: PF01585, PF17780

UniProt features (58 total): compositionally biased region 17, cross-link 16, modified residue 8, region of interest 6, splice variant 3, sequence conflict 3, domain 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78332-F1	49.35	0.05

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 (24): 17, 240, 344, 360, 362, 891, 1022, 1025, 36, 331, 386, 453, 469, 569, 871, 879, 887, 935, 948, 991 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 136 (showing top): AHRARNT_01, GCM_GSPT1, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, CMYB_01, MORF_TERF1, MARTINEZ_RB1_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_RNA_SPLICING, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ELK1_01, SCHLINGEMANN_SKIN_CARCINOGENESIS_TPA_UP, RGAGGAARY_PU1_Q6, ACEVEDO_LIVER_CANCER_UP

GO Biological Process (2): mRNA splicing, via spliceosome (GO:0000398), RNA processing (GO:0006396)

GO Molecular Function (4): DNA binding (GO:0003677), RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	2
binding	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1276 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBM6	RBM4	Q9BWF3	521
RBM6	PLXDC2	Q6UX71	478
RBM6	NUMBL	Q9Y6R0	454
RBM6	NUMB	P49757	453
RBM6	CRABP2	P29373	434
RBM6	ZFP3	Q96NJ6	432
RBM6	RBM41	Q96IZ5	416
RBM6	SIRT7	Q9NRC8	413
RBM6	INKA1	Q96EL1	397
RBM6	RBM7	Q9Y580	390
RBM6	CDKN2A	P42771	385
RBM6	RBFOX2	O43251	382
RBM6	RBM39	Q14498	379
RBM6	RBM25	P49756	378
RBM6	SS18L2	Q9UHA2	370

IntAct

108 interactions, top by confidence:

A	B	Type	Score
RBM6	EEF1G	psi-mi:“MI:0915”(physical association)	0.560
EEF1G	RBM6	psi-mi:“MI:0915”(physical association)	0.560
MITF	TFEB	psi-mi:“MI:0914”(association)	0.560
NAGK	ZBTB43	psi-mi:“MI:0914”(association)	0.530
ZC3H18	AQR	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
CEPT1	RBM6	psi-mi:“MI:0914”(association)	0.530
PLOD3	PLOD2	psi-mi:“MI:0914”(association)	0.530
PDGFRL	ANKRD28	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
FUS	DDX3X	psi-mi:“MI:0914”(association)	0.430
RBM6	PLEC	psi-mi:“MI:0915”(physical association)	0.400
RBM6	DNTTIP2	psi-mi:“MI:0915”(physical association)	0.400
RBM6	TAF7	psi-mi:“MI:0915”(physical association)	0.370
SF3B3	RBM6	psi-mi:“MI:0915”(physical association)	0.370
Ppp1cb	MYO1C	psi-mi:“MI:0914”(association)	0.350
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
Taf15	BTBD10	psi-mi:“MI:0914”(association)	0.350
MATR3	BCLAF3	psi-mi:“MI:0914”(association)	0.350
HNRNPA1	MATR3	psi-mi:“MI:0914”(association)	0.350
Fus	DDX3X	psi-mi:“MI:0914”(association)	0.350
PAPD5	UNC119B	psi-mi:“MI:0914”(association)	0.350
Junb	RGPD3	psi-mi:“MI:0914”(association)	0.350
EMC2	TBL2	psi-mi:“MI:0914”(association)	0.350
MMGT1	DERL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (161): RBM6 (Two-hybrid), RBM6 (Affinity Capture-RNA), RBM6 (Affinity Capture-RNA), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS), RBM6 (Affinity Capture-MS)

ESM2 similar proteins: A0A1I8MUL8, A0A1L8H8C0, A0A1L8HFX9, A2AG58, A2AJT9, B9UYK6, C5IY45, E9Q309, E9Q4F7, O94687, P0DW16, P31629, P61129, P78332, P97868, Q01613, Q08D57, Q09JY9, Q17QQ9, Q27IV2, Q2T9M9, Q498L0, Q4R731, Q53FD0, Q5F3P8, Q5JSZ5, Q5LJZ2, Q5PPL1, Q5R6I3, Q5SW79, Q5T481, Q5VT06, Q62504, Q66J90, Q6IMN6, Q6P9P0, Q6UB99, Q7Z6E9, Q865B7, Q8BYK8

Diamond homologs: A0JMV4, A4IGK4, A4L691, A5DSB5, B2GV05, P15771, P52756, P70501, P78332, P98175, Q0IIX9, Q17784, Q1RMU5, Q66J74, Q68FU8, Q6C233, Q6DDU9, Q7TN31, Q7TQC7, Q8CH02, Q8CH09, Q8IWZ8, Q8IX01, Q8N302, Q91YE7, Q96BK5, Q99KG3, Q9CZX5, Q9NW75, A0A0A0LLY1, A2A5N3, A4FV72, A7SKE9, B0BN49, B3P0D7, B4NB54, B5DGI7, B7FAL5, B7P877, C0HFE5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 138 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 3’-end processing	7	16.2×	2e-05
mRNA Splicing - Minor Pathway	6	15.8×	1e-04
mRNA Polyadenylation	14	14.5×	1e-10
mRNA Splicing	10	12.9×	4e-07
Processing of Capped Intron-Containing Pre-mRNA	13	12.6×	4e-09
Transport of Mature mRNA derived from an Intron-Containing Transcript	7	12.5×	8e-05
mRNA Splicing - Major Pathway	18	11.6×	5e-12
SARS-CoV-1-host interactions	5	10.3×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	17	13.7×	5e-12
mRNA transport	5	11.6×	7e-03
regulation of alternative mRNA splicing, via spliceosome	5	10.7×	1e-02
negative regulation of translation	6	10.3×	4e-03
RNA splicing	13	10.1×	2e-07
mRNA processing	10	6.9×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	121
Likely benign	10
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

5321 predictions. Top by Δscore:

Variant	Effect	Δscore
3:49940222:CTAGG:C	donor_loss	1.0000
3:49940225:GGTA:G	donor_loss	1.0000
3:49940226:GTAA:G	donor_loss	1.0000
3:49940227:T:G	donor_loss	1.0000
3:49962686:G:C	donor_loss	1.0000
3:49962686:G:GG	donor_gain	1.0000
3:49962687:TAA:T	donor_loss	1.0000
3:49972051:A:AG	acceptor_gain	1.0000
3:49972052:A:G	acceptor_gain	1.0000
3:49972056:A:AG	acceptor_gain	1.0000
3:49972056:AAG:A	acceptor_gain	1.0000
3:49972057:A:AG	acceptor_gain	1.0000
3:49972057:AG:A	acceptor_gain	1.0000
3:49972057:AGG:A	acceptor_loss	1.0000
3:49972058:G:A	acceptor_gain	1.0000
3:49972058:G:GG	acceptor_gain	1.0000
3:49972058:GGA:G	acceptor_gain	1.0000
3:49972058:GGAT:G	acceptor_gain	1.0000
3:49972058:GGATC:G	acceptor_gain	1.0000
3:49972144:AAGAG:A	donor_gain	1.0000
3:49972145:AGAG:A	donor_gain	1.0000
3:49972146:GAG:G	donor_gain	1.0000
3:49972146:GAGG:G	donor_gain	1.0000
3:49972147:AGGTA:A	donor_loss	1.0000
3:49972149:G:GC	donor_loss	1.0000
3:49972149:G:GG	donor_gain	1.0000
3:49972150:T:G	donor_loss	1.0000
3:49975319:GCA:G	acceptor_loss	1.0000
3:49975320:CAG:C	acceptor_loss	1.0000
3:49975321:A:AG	acceptor_gain	1.0000

AlphaMissense

7413 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:50058405:T:A	I658N	1.000
3:50058411:T:C	L660P	1.000
3:50058459:T:C	L676P	1.000
3:50058492:T:A	V687D	1.000
3:50058495:G:C	R688P	1.000
3:50058537:G:A	G702D	1.000
3:50058539:T:C	F703L	1.000
3:50058540:T:C	F703S	1.000
3:50058540:T:G	F703C	1.000
3:50058541:T:A	F703L	1.000
3:50058541:T:G	F703L	1.000
3:50058543:T:A	I704N	1.000
3:50058549:T:C	L706P	1.000
3:50059731:C:A	A738D	1.000
3:50066428:T:C	C957R	1.000
3:50066432:T:C	L958P	1.000
3:50066435:T:C	L959P	1.000
3:50066437:T:A	C960S	1.000
3:50066437:T:C	C960R	1.000
3:50066438:G:A	C960Y	1.000
3:50066438:G:C	C960S	1.000
3:50066439:C:G	C960W	1.000
3:50066444:G:T	R962M	1.000
3:50066445:G:C	R962S	1.000
3:50066445:G:T	R962S	1.000
3:50066449:T:C	F964L	1.000
3:50066450:T:C	F964S	1.000
3:50066451:T:A	F964L	1.000
3:50066451:T:G	F964L	1.000
3:50066468:T:C	L970P	1.000

dbSNP variants (sampled 300 via entrez): RS1000004236 (3:50057145 G>T), RS1000020590 (3:50062542 C>T), RS1000056651 (3:50057661 G>A,T), RS1000073694 (3:50071490 T>C), RS1000092059 (3:50060178 G>A,C), RS1000141837 (3:49954129 A>C), RS1000154729 (3:49984640 C>T), RS1000157933 (3:49963853 A>C,G), RS1000165806 (3:50002268 T>C), RS1000198175 (3:49983474 T>C), RS1000208462 (3:50074221 C>A), RS1000212659 (3:49947274 G>C,T), RS1000266079 (3:49989994 G>A,T), RS1000288008 (3:50034576 C>T), RS1000306841 (3:49994973 G>A)

Disease associations

OMIM: gene MIM:606886 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

53 associations (top):

Study	Trait	p-value
GCST000880_21	Menarche (age at onset)	2.000000e-08
GCST003795_3	Age at first birth	5.000000e-15
GCST004904_256	Body mass index	4.000000e-09
GCST005316_117	Intelligence (MTAG)	1.000000e-16
GCST005316_118	Intelligence (MTAG)	1.000000e-25
GCST005951_49	Body mass index	1.000000e-08
GCST006044_2	Age at first birth	2.000000e-06
GCST006045_5	Age at first birth	6.000000e-10
GCST006269_607	General cognitive ability	3.000000e-13
GCST006611_103	HDL cholesterol	3.000000e-16
GCST006920_7	Regular attendance at a gym or sports club	6.000000e-10
GCST006922_9	Regular attendance at a religious group	3.000000e-08
GCST007044_11	Extremely high intelligence	4.000000e-08
GCST007293_102	Body fat distribution (arm fat ratio)	4.000000e-09
GCST007293_84	Body fat distribution (arm fat ratio)	2.000000e-09
GCST007294_116	Body fat distribution (trunk fat ratio)	1.000000e-06
GCST007294_136	Body fat distribution (trunk fat ratio)	4.000000e-07
GCST007294_161	Body fat distribution (trunk fat ratio)	2.000000e-12
GCST007295_61	Body fat distribution (leg fat ratio)	6.000000e-06
GCST007336_2	Age at first birth	1.000000e-12
GCST007336_4	Age at first birth	9.000000e-15
GCST007387_41	Insomnia symptoms (never/rarely vs. sometimes/usually)	4.000000e-12
GCST007388_29	Insomnia symptoms (never/rarely vs. usually)	2.000000e-13
GCST007559_24	Sleep duration (short sleep)	3.000000e-08
GCST007565_90	Morning person	5.000000e-19
GCST007576_290	Chronotype	5.000000e-19
GCST008163_253	Height	8.000000e-07
GCST008595_31	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	2.000000e-17
GCST008832_17	Gastroesophageal reflux disease	3.000000e-08
GCST008843_1	Depressive symptom (appetite changes) (binary trait)	9.000000e-09

EFO canonical traits (21, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0009101	age at first birth measurement
EFO:0004340	body mass index
EFO:0004337	intelligence
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009592	social interaction measurement
EFO:0004341	body fat distribution
EFO:0007876	insomnia measurement
EFO:0008328	chronotype measurement
EFO:0004784	self reported educational attainment
EFO:0007006	depressive symptom measurement
EFO:0009695	household income
EFO:0000195	metabolic syndrome
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004346	neuroimaging measurement
EFO:0004327	electrocardiography
EFO:0010100	multisite chronic pain
EFO:0004531	urate measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
methylparaben	increases expression	1
sodium arsenite	increases stability	1
aflatoxin B2	decreases methylation	1
coumarin	decreases phosphorylation	1
brequinar	increases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
mono(2-ethyl-5-oxohexyl)phthalate	affects expression	1
deguelin	increases expression	1
K 7174	increases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	increases expression	1
pyrachlostrobin	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Air Pollutants, Occupational	decreases expression	1
Antimycin A	increases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	affects expression, increases expression	1
Caffeine	increases phosphorylation	1
Dexamethasone	affects cotreatment, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_2116	MKPL-1	Cancer cell line	Male

Clinical trials (associated diseases)

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