LRRC14

Summary

LRRC14 (leucine rich repeat containing 14, HGNC:20419) is a protein-coding gene on chromosome 8q24.3, encoding Leucine-rich repeat-containing protein 14 (Q15048). Negatively regulates Toll-like receptor-mediated NF-kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB.

This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 9684 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 158 total — 1 pathogenic
• MANE Select transcript: NM_014665

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20419
Approved symbol	LRRC14
Name	leucine rich repeat containing 14
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0014, LRRC14A
Ensembl gene	ENSG00000160959
Ensembl biotype	protein_coding
OMIM	619368
Entrez	9684

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 15 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000292524, ENST00000525766, ENST00000527730, ENST00000528528, ENST00000529022, ENST00000529995, ENST00000530242, ENST00000530854, ENST00000531310, ENST00000887351, ENST00000927377, ENST00000927378, ENST00000927379, ENST00000953063, ENST00000953064, ENST00000953065, ENST00000953066, ENST00000953067, ENST00000953068

RefSeq mRNA: 2 — MANE Select: NM_014665 NM_001272036, NM_014665

CCDS: CCDS6432

Canonical transcript exons

ENST00000292524 — 4 exons

Exon	Start	End
ENSE00001055679	144520238	144520822
ENSE00001136013	144519615	144520054
ENSE00001214931	144520911	144525172
ENSE00002154196	144517992	144518041

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 92.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3659 / max 63.2175, expressed in 1715 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91528	3.9634	1637
91529	3.4025	1135

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	92.76	gold quality
mucosa of transverse colon	UBERON:0004991	91.33	gold quality
right lobe of thyroid gland	UBERON:0001119	89.72	gold quality
granulocyte	CL:0000094	89.46	gold quality
right uterine tube	UBERON:0001302	89.02	gold quality
apex of heart	UBERON:0002098	88.98	gold quality
body of uterus	UBERON:0009853	88.96	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.93	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.82	gold quality
transverse colon	UBERON:0001157	88.79	gold quality
endocervix	UBERON:0000458	88.62	gold quality
body of stomach	UBERON:0001161	88.59	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.56	gold quality
lower esophagus	UBERON:0013473	88.55	gold quality
left lobe of thyroid gland	UBERON:0001120	88.45	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.29	gold quality
adenohypophysis	UBERON:0002196	88.23	gold quality
pituitary gland	UBERON:0000007	88.19	gold quality
cerebellar hemisphere	UBERON:0002245	87.94	gold quality
cerebellar cortex	UBERON:0002129	87.76	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.61	gold quality
body of pancreas	UBERON:0001150	87.59	gold quality
ascending aorta	UBERON:0001496	87.58	gold quality
thoracic aorta	UBERON:0001515	87.55	gold quality
thyroid gland	UBERON:0002046	87.37	gold quality
esophagus	UBERON:0001043	87.28	gold quality
right frontal lobe	UBERON:0002810	87.26	gold quality
right testis	UBERON:0004534	87.20	gold quality
aorta	UBERON:0000947	87.19	gold quality
left coronary artery	UBERON:0001626	87.17	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)

48 targeting LRRC14, 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-4673	100.00	66.64	1490
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-4763-5P	98.75	63.89	854
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-6784-3P	98.39	64.88	662
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-10226	98.25	66.50	811
HSA-MIR-4691-3P	98.11	66.83	1204

Literature-anchored findings (GeneRIF, showing 1)

• TLR signaling led to lower expression of LRRC14. (PMID:27426725)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch73-174h16.4	ENSDARG00000036493
mus_musculus	Lrrc14	ENSMUSG00000033728
rattus_norvegicus	Lrrc14	ENSRNOG00000016128

Paralogs (24): PRAMEF1 (ENSG00000116721), PRAMEF12 (ENSG00000116726), PRAMEF2 (ENSG00000120952), PRAMEF8 (ENSG00000182330), LRRC14B (ENSG00000185028), PRAME (ENSG00000185686), PRAMEF10 (ENSG00000187545), PRAMEF20 (ENSG00000204478), PRAMEF17 (ENSG00000204479), PRAMEF19 (ENSG00000204480), PRAMEF14 (ENSG00000204481), PRAMEF15 (ENSG00000204501), PRAMEF9 (ENSG00000204505), PRAMEF7 (ENSG00000204510), PRAMEF25 (ENSG00000229571), PRAMEF6 (ENSG00000232423), PRAMEF33 (ENSG00000237700), PRAMEF11 (ENSG00000239810), PRAMEF4 (ENSG00000243073), PRAMEF5 (ENSG00000270601), PRAMEF27 (ENSG00000274764), PRAMEF13 (ENSG00000279169), PRAMEF18 (ENSG00000279804), PRAMEF26 (ENSG00000280267)

Protein

Protein identifiers

Leucine-rich repeat-containing protein 14 — Q15048 (reviewed: Q15048)

All UniProt accessions (4): Q15048, E9PNL0, E9PP40, E9PRP5

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates Toll-like receptor-mediated NF-kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB.

Subunit / interactions. Interacts with IKBKB; disrupts IKBKB-IKBKG interaction preventing I-kappa-B-kinase (IKK) core complex formation and leading to a decrease of IKBKB phosphorylation and NF-kappaB activation. Interacts with CHUK.

Subcellular location. Cytoplasm.

Induction. Down-regulated in response to toll-like receptor ligand.

Similarity. Belongs to the PRAME family. LRRC14 subfamily.

RefSeq proteins (2): NP_001258965, NP_055480* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050694	LRRC14/PRAME	Family

Pfam: PF13516

UniProt features (12 total): repeat 9, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15048-F1	87.76	0.64

Function

Pathways and Gene Ontology

Reactome pathways

24 pathways

ID	Pathway
R-HSA-9758274	Regulation of NF-kappa B signaling
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-166016	Toll Like Receptor 4 (TLR4) Cascade
R-HSA-166058	MyD88:MAL(TIRAP) cascade initiated on plasma membrane
R-HSA-166166	MyD88-independent TLR4 cascade
R-HSA-168138	Toll Like Receptor 9 (TLR9) Cascade
R-HSA-168142	Toll Like Receptor 10 (TLR10) Cascade
R-HSA-168164	Toll Like Receptor 3 (TLR3) Cascade
R-HSA-168176	Toll Like Receptor 5 (TLR5) Cascade
R-HSA-168179	Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-168181	Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-168188	Toll Like Receptor TLR6:TLR2 Cascade
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-168898	Toll-like Receptor Cascades
R-HSA-181438	Toll Like Receptor 2 (TLR2) Cascade
R-HSA-445989	TAK1-dependent IKK and NF-kappa-B activation
R-HSA-446652	Interleukin-1 family signaling
R-HSA-449147	Signaling by Interleukins
R-HSA-9020702	Interleukin-1 signaling
R-HSA-937061	TRIF (TICAM1)-mediated TLR4 signaling
R-HSA-975138	TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
R-HSA-975155	MyD88 dependent cascade initiated on endosome
R-HSA-975871	MyD88 cascade initiated on plasma membrane

MSigDB gene sets: 141 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, MODULE_255, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_NEGATIVE_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, MODULE_317, CAGGTCC_MIR492, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GOBP_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY

GO Biological Process (2): obsolete negative regulation of NF-kappaB transcription factor activity (GO:0032088), negative regulation of toll-like receptor signaling pathway (GO:0034122)

GO Molecular Function (2): kinase binding (GO:0019900), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-17 pathways:

Category	Pathways
Toll-like Receptor Cascades	7
Immune System	2
Toll Like Receptor 4 (TLR4) Cascade	2
Toll Like Receptor 2 (TLR2) Cascade	2
TAK1-dependent IKK and NF-kappa-B activation	1
Toll Like Receptor TLR1:TLR2 Cascade	1
Toll Like Receptor TLR6:TLR2 Cascade	1
Innate Immune System	1
MyD88:MAL(TIRAP) cascade initiated on plasma membrane	1
Toll Like Receptor 3 (TLR3) Cascade	1
Interleukin-1 signaling	1
TRIF (TICAM1)-mediated TLR4 signaling	1
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	1
MyD88 cascade initiated on plasma membrane	1
Signaling by Interleukins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
toll-like receptor signaling pathway	1
negative regulation of immune system process	1
negative regulation of signal transduction	1
regulation of toll-like receptor signaling pathway	1
enzyme binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1430 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRC14	LRRC24	Q50LG9	645
LRRC14	PPP1R16A	Q96I34	588
LRRC14	ADCK5	Q3MIX3	523
LRRC14	SLC33A2	Q96ES6	513
LRRC14	TMEM276	P0DTL5	489
LRRC14	WDR97	A6NE52	470
LRRC14	GLI4	P10075	463
LRRC14	SERINC2	Q96SA4	462
LRRC14	ALG12	Q9BV10	457
LRRC14	SURF2	Q15527	456
LRRC14	WDR74	Q6RFH5	456
LRRC14	ALDH4A1	P30038	450
LRRC14	ARHGAP39	Q9C0H5	441
LRRC14	C1orf35	Q9BU76	431
LRRC14	PIK3IP1	Q96FE7	424
LRRC14	PREPL	Q4J6C6	424

IntAct

28 interactions, top by confidence:

A	B	Type	Score
CUL2	VHL	psi-mi:“MI:0914”(association)	0.940
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
CUL2	COPS2	psi-mi:“MI:0914”(association)	0.640
RCCD1	SPAG9	psi-mi:“MI:0914”(association)	0.640
TUBA4A	TXNDC9	psi-mi:“MI:0914”(association)	0.640
LRRC14	CUL2	psi-mi:“MI:0914”(association)	0.620
LRRC14	CUL2	psi-mi:“MI:0915”(physical association)	0.620
COPS5	KLHL18	psi-mi:“MI:0914”(association)	0.530
GPS1	PXDNL	psi-mi:“MI:0914”(association)	0.530
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
COPS6	DDX3X	psi-mi:“MI:0914”(association)	0.350
COPS5		psi-mi:“MI:0914”(association)	0.350
COPS6		psi-mi:“MI:0914”(association)	0.350
COPS3	POTEF	psi-mi:“MI:0914”(association)	0.350
COPS2	RHOBTB1	psi-mi:“MI:0914”(association)	0.350
COPS3	RHOBTB1	psi-mi:“MI:0914”(association)	0.350
COPS5	FCN1	psi-mi:“MI:0914”(association)	0.350
FPR1	NBAS	psi-mi:“MI:0914”(association)	0.350
GSDME	DDX39A	psi-mi:“MI:0914”(association)	0.350
HAVCR2	LGALS8	psi-mi:“MI:0914”(association)	0.350
INHA	MOCS3	psi-mi:“MI:0914”(association)	0.350

BioGRID (28): CHUK (Affinity Capture-Western), IKBKB (Affinity Capture-Western), LRRC14 (Affinity Capture-Western), LRRC14 (Affinity Capture-MS), LRRC14 (Affinity Capture-MS), LRRC14 (Affinity Capture-MS), LRRC14 (Affinity Capture-MS), LRRC14 (Proximity Label-MS), LRRC14 (Affinity Capture-MS), LRRC14 (Affinity Capture-RNA), LRRC14 (Affinity Capture-MS), LRRC14 (Affinity Capture-MS), LRRC14 (Affinity Capture-MS), LRRC14 (Affinity Capture-RNA), LRRC14 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JMD5, A1Z198, A3QJZ6, A3QJZ7, A5PJJ5, A6NGN4, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, E9Q5G7, E9Q5R7, H0Y7S4, O60809, O60810, O60811, O60813, O95521, O95522, P0DUQ1, P0DUQ2, P59047, P78395, Q0GKD5, Q15048, Q288C4, Q2LKU9, Q2LKV5, Q2LKW6, Q3UWY1, Q569B5, Q5SWL7, Q5SWL8, Q5TYX0, Q5VT98, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6

Diamond homologs: A0A0G2JMD5, A3QJZ6, A3QJZ7, A5PJJ5, A6NGN4, E9Q5G7, H0Y7S4, O60809, O60810, O60811, O60813, O95521, O95522, P0DUQ1, P0DUQ2, P78395, Q15048, Q3UWY1, Q569B5, Q5SWL7, Q5SWL8, Q5TYX0, Q5VT98, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6, Q5VXH4, Q5VXH5, Q7TPX8, Q810Y8, Q99MW3, A6NHZ5, Q1L8H0, Q3UJB3, Q640Z9, Q8VC16, P59047, Q7TSF4, Q8NAA5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 27 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
DNA Damage Recognition in GG-NER	5	71.4×	8e-07
Formation of TC-NER Pre-Incision Complex	5	52.9×	2e-06
Cargo recognition for clathrin-mediated endocytosis	5	26.2×	3e-05
Neddylation	7	16.6×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
regulation of protein neddylation	5	180.0×	5e-09
protein neddylation	5	135.0×	2e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	144
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1458633	NC_000008.10:g.(?145742531)(145747630_?)del	Pathogenic

SpliceAI

1910 predictions. Top by Δscore:

Variant	Effect	Δscore
8:144523406:TTCT:T	acceptor_gain	1.0000
8:144523408:CT:C	acceptor_gain	1.0000
8:144523410:C:CC	acceptor_gain	1.0000
8:144524105:GGTA:G	donor_loss	1.0000
8:144524106:GTAC:G	donor_loss	1.0000
8:144524107:TACCT:T	donor_loss	1.0000
8:144524108:A:T	donor_loss	1.0000
8:144524109:C:CA	donor_loss	1.0000
8:144524275:GTCG:G	acceptor_gain	1.0000
8:144524276:TCG:T	acceptor_gain	1.0000
8:144524277:CG:C	acceptor_gain	1.0000
8:144524277:CGC:C	acceptor_gain	1.0000
8:144524279:C:CC	acceptor_gain	1.0000
8:144524299:CG:C	acceptor_gain	1.0000
8:144524300:G:C	acceptor_gain	1.0000
8:144524435:GCTCA:G	donor_loss	1.0000
8:144524436:CTCA:C	donor_loss	1.0000
8:144524437:TCA:T	donor_loss	1.0000
8:144524438:CAC:C	donor_loss	1.0000
8:144524439:A:AC	donor_gain	1.0000
8:144524440:C:CC	donor_gain	1.0000
8:144524440:CCGG:C	donor_gain	1.0000
8:144520232:TCCCA:T	acceptor_loss	0.9900
8:144520233:CCCA:C	acceptor_loss	0.9900
8:144520234:CCAGG:C	acceptor_loss	0.9900
8:144520235:CAG:C	acceptor_loss	0.9900
8:144520236:A:AG	acceptor_gain	0.9900
8:144520236:A:AT	acceptor_loss	0.9900
8:144520237:G:GC	acceptor_loss	0.9900
8:144520237:G:GG	acceptor_gain	0.9900

AlphaMissense

3149 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:144519885:T:A	W54R	0.997
8:144519885:T:C	W54R	0.997
8:144519887:G:C	W54C	0.995
8:144519887:G:T	W54C	0.995
8:144521018:T:C	L341S	0.995
8:144520593:T:C	F229L	0.994
8:144520595:C:A	F229L	0.994
8:144520595:C:G	F229L	0.994
8:144520948:T:C	F318L	0.994
8:144520950:C:A	F318L	0.994
8:144520950:C:G	F318L	0.994
8:144521205:C:A	N403K	0.994
8:144521205:C:G	N403K	0.994
8:144521009:T:A	L338H	0.993
8:144519829:T:C	F35S	0.992
8:144519988:T:A	V88D	0.992
8:144520943:T:C	L316S	0.992
8:144521119:T:C	C375R	0.991
8:144521121:T:G	C375W	0.991
8:144519838:C:A	A38D	0.989
8:144520339:C:A	A144D	0.989
8:144520990:A:C	S332R	0.989
8:144520992:C:A	S332R	0.989
8:144520992:C:G	S332R	0.989
8:144521024:T:A	L343Q	0.989
8:144521030:G:T	G345V	0.989
8:144521203:A:G	N403D	0.989
8:144519901:T:A	L59H	0.988
8:144520499:C:G	C197W	0.988
8:144520662:A:C	S252R	0.988

dbSNP variants (sampled 300 via entrez): RS1000169767 (8:144525649 T>C), RS1000338840 (8:144517883 CCGGGGG>C), RS1000361671 (8:144522878 G>A,T), RS1000972788 (8:144518579 G>T), RS1001013778 (8:144518014 G>A), RS1001164726 (8:144520785 T>C), RS1001434106 (8:144516428 C>T), RS1001801628 (8:144516577 T>C), RS1001894022 (8:144517756 C>A,G,T), RS1002030586 (8:144524015 C>G,T), RS1002666643 (8:144521583 G>T), RS1002836475 (8:144521839 C>T), RS1003670511 (8:144520137 A>G), RS1003751900 (8:144525104 C>A,T), RS1003796114 (8:144524697 T>A)

Disease associations

OMIM: gene MIM:619368 | disease phenotypes: MIM:218600

GenCC curated gene-disease

Mondo (1): Baller-Gerold syndrome (MONDO:0009039)

Orphanet (1): Baller-Gerold syndrome (Orphanet:1225)

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST002598_30	Educational attainment	9.000000e-06
GCST005141_63	Cognitive ability (MTAG)	4.000000e-09
GCST005316_94	Intelligence (MTAG)	1.000000e-14
GCST006879_12	Blood metabolite levels	4.000000e-10
GCST006879_13	Blood metabolite levels	2.000000e-09
GCST006879_14	Blood metabolite levels	2.000000e-11
GCST006879_5	Blood metabolite levels	2.000000e-12
GCST009524_212	Household income (MTAG)	7.000000e-09
GCST90002404_106	Red cell distribution width	7.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004784	self reported educational attainment
EFO:0004337	intelligence
EFO:0009695	household income
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536788	Craniosynostosis radial aplasia syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	3
sodium arsenite	affects cotreatment, increases abundance, decreases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
beta-lapachone	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
beta-methylcholine	affects expression	1
ICG 001	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Zoledronic Acid	increases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Atrazine	decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Ozone	affects expression, increases abundance	1
Phthalic Acids	increases methylation	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	affects expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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