HOXC4

Summary

HOXC4 (homeobox C4, HGNC:5126) is a protein-coding gene on chromosome 12q13.13, encoding Homeobox protein Hox-C4 (P09017). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5’ non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons.

Source: NCBI Gene 3221 — RefSeq curated summary.

At a glance

• GWAS associations: 73
• Clinical variants (ClinVar): 102 total
• MANE Select transcript: NM_153633

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5126
Approved symbol	HOXC4
Name	homeobox C4
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000198353
Ensembl biotype	protein_coding
OMIM	142974
Entrez	3221

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000303406, ENST00000430889, ENST00000507650

RefSeq mRNA: 2 — MANE Select: NM_153633 NM_014620, NM_153633

CCDS: CCDS8873

Canonical transcript exons

ENST00000430889 — 2 exons

Exon	Start	End
ENSE00001257489	54054850	54056030
ENSE00001664549	54053835	54054361

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 98.40.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4290 / max 86.6980, expressed in 706 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125857	7.2060	702
125856	1.6380	554
125879	1.2766	517
125880	0.8490	400
125881	0.2437	111
125878	0.1478	70
125882	0.1378	57
125874	0.0494	24
125872	0.0462	24
125883	0.0415	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.40	gold quality
vena cava	UBERON:0004087	92.31	gold quality
renal medulla	UBERON:0000362	92.05	gold quality
metanephros cortex	UBERON:0010533	90.96	gold quality
saphenous vein	UBERON:0007318	90.77	gold quality
pons	UBERON:0000988	89.64	gold quality
left uterine tube	UBERON:0001303	89.50	gold quality
fallopian tube	UBERON:0003889	88.31	gold quality
tibial artery	UBERON:0007610	88.07	gold quality
popliteal artery	UBERON:0002250	88.05	gold quality
caput epididymis	UBERON:0004358	87.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.17	silver quality
dorsal root ganglion	UBERON:0000044	87.13	gold quality
nerve	UBERON:0001021	86.69	gold quality
tibial nerve	UBERON:0001323	86.69	gold quality
diaphragm	UBERON:0001103	86.56	gold quality
right ovary	UBERON:0002118	86.19	gold quality
cardia of stomach	UBERON:0001162	86.06	gold quality
cortex of kidney	UBERON:0001225	85.47	gold quality
metanephros	UBERON:0000081	85.06	gold quality
parietal pleura	UBERON:0002400	84.64	gold quality
oviduct epithelium	UBERON:0004804	84.52	gold quality
kidney	UBERON:0002113	84.39	gold quality
germinal epithelium of ovary	UBERON:0001304	84.05	gold quality
upper arm skin	UBERON:0004263	84.03	silver quality
ovary	UBERON:0000992	83.63	gold quality
superficial temporal artery	UBERON:0001614	83.52	silver quality
pericardium	UBERON:0002407	83.44	gold quality
pylorus	UBERON:0001166	83.33	gold quality
adult mammalian kidney	UBERON:0000082	83.29	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.54

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
AICDA
CD14	Activation
TNFSF13

JASPAR motifs

Motif	Name	Family
MA1504.1	HOXC4	HOX
MA1504.2	HOXC4	HOX

JASPAR matrix evidence (PMIDs): PMID:18585359

Upstream regulators (CollecTRI, top): KDM6A, NFKB

miRNA regulators (miRDB)

117 targeting HOXC4, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-1250-3P	99.96	70.04	4038
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-651-3P	99.94	73.48	5177
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909

Literature-anchored findings (GeneRIF, showing 11)

• Selective inhibition of class switching to IgG and IgE by recruitment of this and Oct-1 proteins and Ku70/Ku86 to newly identified ATTT cis-elements. (PMID:12672812)
• The hs1,2mediated enhancement of V(H) and C(H) promoter-driven transcription as induced by HoxC4 and Oct-1/Oct-2 suggests an important role of these homeodomain proteins in the overall regulation of the IgH locus expression. (PMID:15252056)
• The HOXC4 expression was clearly detected in all inv(7) positive patients. (PMID:15674412)
• Human cytomegalovirus downregulates while all-trans retinoic acid upregulates expression of hoxc4 and hoxc6 in lymphocytic progenitor cells. (PMID:19236766)
• HoxC4 directly activates the Aicda promoter (PMID:19363484)
• Esr1 bind to and activate the HOXC4 promoter to potentiate HoxC4-mediated AID induction, immunoglobulin class switch and somatic hypermutation. (PMID:20855884)
• HOXC4 homeoprotein expands human hematopoietic immature cells by 3 to 6 times ex vivo and significantly improves the level of in vivo engraftment. (PMID:22298821)
• he upregulation of miR-608 reduced the expression of HOXC4 in the uveal melanoma cells, which was rescued by overexpression of MALAT1. Hence, MALAT1 could upregulate the HOXC4 by binding to miR-608. (PMID:31913701)
• Homeobox C4 promotes hepatocellular carcinoma progression by the transactivation of Snail. (PMID:32977722)
• A likely HOXC4 predisposition variant for Chiari malformations. (PMID:36433874)
• HOXC4 promotes proliferation of pancreatic cancer cells by increasing LDHA-mediated glycolysis. (PMID:38990159)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hoxc4a	ENSDARG00000070338
mus_musculus	Hoxc4	ENSMUSG00000075394
rattus_norvegicus	Hoxc4	ENSRNOG00000016613

Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA3 (ENSG00000105997), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), HOXB8 (ENSG00000120068), HOXB5 (ENSG00000120075), HOXB3 (ENSG00000120093), HOXB1 (ENSG00000120094), HOXA7 (ENSG00000122592), HOXC13 (ENSG00000123364), HOXC11 (ENSG00000123388), HOXC12 (ENSG00000123407), HOXD1 (ENSG00000128645), HOXD3 (ENSG00000128652), HOXD9 (ENSG00000128709), HOXD10 (ENSG00000128710), HOXD11 (ENSG00000128713), HOXD13 (ENSG00000128714), PDX1 (ENSG00000139515), HOXB13 (ENSG00000159184), TLX3 (ENSG00000164438), HOXD4 (ENSG00000170166), HOXD12 (ENSG00000170178), HOXB9 (ENSG00000170689), HOXC5 (ENSG00000172789), HOXB2 (ENSG00000173917), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757)

Protein

Protein identifiers

Homeobox protein Hox-C4 — P09017 (reviewed: P09017)

Alternative names: Homeobox protein CP19, Homeobox protein Hox-3E

All UniProt accessions (1): P09017

UniProt curated annotations — full annotation on UniProt →

Function. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Subcellular location. Nucleus.

Similarity. Belongs to the Antp homeobox family. Deformed subfamily.

RefSeq proteins (2): NP_055435, NP_705897* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR001827	Homeobox_Antennapedia_CS	Conserved_site
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR017995	Homeobox_antennapedia	Family
IPR020479	HD_metazoa	Domain
IPR050609	Antp_homeobox_Deformed_sf	Family

Pfam: PF00046

UniProt features (11 total): compositionally biased region 3, region of interest 2, sequence variant 2, chain 1, DNA-binding region 1, sequence conflict 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P09017-F1	65.51	0.25

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis

MSigDB gene sets: 311 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, FREAC2_01, BENPORATH_ES_WITH_H3K27ME3, HNF3ALPHA_Q6, TGCGCANK_UNKNOWN, GOBP_CARTILAGE_DEVELOPMENT, LU_IL4_SIGNALING, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, NKX25_02, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, SP3_Q3, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, AP4_Q6, RACCACAR_AML_Q6

GO Biological Process (7): anterior/posterior pattern specification (GO:0009952), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic skeletal system morphogenesis (GO:0048704), cartilage development (GO:0051216), skeletal system development (GO:0001501), regulation of DNA-templated transcription (GO:0006355), embryonic organ morphogenesis (GO:0048562)

GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), HMG box domain binding (GO:0071837), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleoplasm (GO:0005654), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Activation of HOX genes during differentiation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of transcription by RNA polymerase II	2
cellular anatomical structure	2
regionalization	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
skeletal system development	1
animal organ development	1
connective tissue development	1
system development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
animal organ morphogenesis	1
embryonic organ development	1
embryonic morphogenesis	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
protein domain specific binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
binding	1
chromosome	1
nuclear lumen	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1088 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOXC4	ISL1	P20663	621
HOXC4	HOXC13	P31276	588
HOXC4	HOXC9	P31274	544
HOXC4	AICDA	Q9GZX7	543
HOXC4	PBX1	P40424	542
HOXC4	PRRX1	P54821	468
HOXC4	XRCC6	P12956	458
HOXC4	MEIS1	O00470	453
HOXC4	FOXD1	Q16676	442
HOXC4	TBX3	O15119	436
HOXC4	HOXC10	Q9NYD6	430
HOXC4	ZNF570	Q96NI8	420
HOXC4	MEIS2	O14770	418
HOXC4	NFIA	Q12857	416
HOXC4	HOXB6	P09068	407

IntAct

117 interactions, top by confidence:

A	B	Type	Score
HOXC4	HTT	psi-mi:“MI:0915”(physical association)	0.670
HTT	HOXC4	psi-mi:“MI:0915”(physical association)	0.670
NCK2	HOXC4	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	CSNK2A1	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	CLK3	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	EXOSC5	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	RPRD1B	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	A2M	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	DMWD	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	DNM2	psi-mi:“MI:0915”(physical association)	0.560
HOXC4		psi-mi:“MI:0915”(physical association)	0.560
HOXC4	GRN	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	HLA-A	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	PPIB	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	SMN1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (61): NCK2 (Two-hybrid), ANKRD17 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ERBB2IP (Affinity Capture-MS), HOXC4 (Affinity Capture-MS), HOXC4 (Reconstituted Complex), RCHY1 (PCA), RABGAP1 (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), HOXC4 (Affinity Capture-MS)

ESM2 similar proteins: A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG01, A1YG85, A2D4P8, A2D4R4, A2D5I1, A2D649, A2T6H5, A2T6X6, A2T6Z0, A2T748, A2T756, A2T7H5, A2T7J2, P06798, P09016, P09017, P09023, P09024, P10284, P10628, P13378, P14653, P17277, P17483, P17509, P18111, P18864, P23463, P23813, P31259, P31275, P31276, P31277, P31310, P47902, P50207

Diamond homologs: A1YER7, A1YFA5, A1YFD8, A1YFY3, A2D4P8, A2D5I1, A2D5K9, A2D5Y4, A2T6X6, A2T7F3, O13074, O42504, O57374, P02830, P02832, P02833, P04476, P06798, P07548, P09013, P09014, P09016, P09017, P09019, P09020, P09021, P09023, P09024, P09067, P09070, P09071, P09074, P09077, P09079, P09092, P09629, P09630, P10284, P10628, P10629

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
KDM6A	“up-regulates quantity by expression”	HOXC4	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 43 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
Chromatin organization	5	13.6×	6e-03
Chromatin modifying enzymes	5	12.1×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1658 predictions. Top by Δscore:

Variant	Effect	Δscore
12:54054846:CCAGT:C	acceptor_loss	1.0000
12:54054847:CA:C	acceptor_loss	1.0000
12:54054848:A:AC	acceptor_loss	1.0000
12:54054848:A:AG	acceptor_gain	1.0000
12:54054848:AGT:A	acceptor_gain	1.0000
12:54054849:G:GT	acceptor_gain	1.0000
12:54054849:GT:G	acceptor_gain	1.0000
12:54054849:GTG:G	acceptor_gain	1.0000
12:54054849:GTGA:G	acceptor_gain	1.0000
12:54054849:GTGAA:G	acceptor_gain	1.0000
12:54028422:T:TA	acceptor_gain	0.9900
12:54028919:GTG:G	donor_gain	0.9900
12:54029644:C:CA	acceptor_gain	0.9900
12:54029645:G:A	acceptor_gain	0.9900
12:54029651:TTA:T	acceptor_loss	0.9900
12:54029652:TA:T	acceptor_loss	0.9900
12:54029653:A:C	acceptor_loss	0.9900
12:54029653:AG:A	acceptor_gain	0.9900
12:54029653:AGG:A	acceptor_gain	0.9900
12:54029654:GG:G	acceptor_gain	0.9900
12:54029654:GGG:G	acceptor_gain	0.9900
12:54053158:A:AG	acceptor_gain	0.9900
12:54053158:AGC:A	acceptor_gain	0.9900
12:54053158:AGCG:A	acceptor_gain	0.9900
12:54053158:AGCGG:A	acceptor_gain	0.9900
12:54053159:G:GG	acceptor_gain	0.9900
12:54053159:GC:G	acceptor_gain	0.9900
12:54053159:GCG:G	acceptor_gain	0.9900
12:54053159:GCGG:G	acceptor_gain	0.9900
12:54053159:GCGGG:G	acceptor_gain	0.9900

AlphaMissense

1720 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:54053971:T:C	F17L	1.000
12:54053972:T:C	F17S	1.000
12:54053972:T:G	F17C	1.000
12:54053973:T:A	F17L	1.000
12:54053973:T:G	F17L	1.000
12:54054328:T:A	Y136N	1.000
12:54054328:T:G	Y136D	1.000
12:54054334:T:A	W138R	1.000
12:54054334:T:C	W138R	1.000
12:54054336:G:C	W138C	1.000
12:54054336:G:T	W138C	1.000
12:54054338:T:C	M139T	1.000
12:54054338:T:G	M139R	1.000
12:54054339:G:A	M139I	1.000
12:54054339:G:C	M139I	1.000
12:54054339:G:T	M139I	1.000
12:54054879:A:G	K157E	1.000
12:54054881:G:C	K157N	1.000
12:54054881:G:T	K157N	1.000
12:54054882:C:A	R158S	1.000
12:54054888:A:G	R160G	1.000
12:54054888:A:T	R160W	1.000
12:54054889:G:C	R160T	1.000
12:54054889:G:T	R160M	1.000
12:54054890:G:C	R160S	1.000
12:54054890:G:T	R160S	1.000
12:54054895:C:A	A162D	1.000
12:54054897:T:A	Y163N	1.000
12:54054897:T:C	Y163H	1.000
12:54054897:T:G	Y163D	1.000

dbSNP variants (sampled 300 via entrez): RS1000059230 (12:54014986 G>A), RS1000137595 (12:54028295 T>G), RS1000191769 (12:54028030 C>G), RS1000269134 (12:54022527 T>C), RS1000358677 (12:54044367 A>C), RS1000396997 (12:54033853 G>A,C), RS1000413505 (12:54015245 T>C), RS1000466922 (12:54043781 C>G), RS1000563189 (12:54017488 T>C,G), RS1000712272 (12:54031698 G>A,T), RS1000764885 (12:54031501 T>A), RS1000801908 (12:54017266 T>A), RS1000836494 (12:54020350 T>C), RS1000843236 (12:54038217 T>TCCC), RS1000873736 (12:54034219 C>A,T)

Disease associations

OMIM: gene MIM:142974 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

73 associations (top):

Study	Trait	p-value
GCST002782_187	Waist-to-hip ratio adjusted for body mass index	3.000000e-14
GCST002782_188	Waist-to-hip ratio adjusted for body mass index	2.000000e-07
GCST002782_189	Waist-to-hip ratio adjusted for body mass index	5.000000e-08
GCST002782_190	Waist-to-hip ratio adjusted for body mass index	3.000000e-13
GCST002782_260	Waist-to-hip ratio adjusted for body mass index	4.000000e-08
GCST002782_261	Waist-to-hip ratio adjusted for body mass index	3.000000e-08
GCST003486_5	Response to fenofibrate (LDL cholesterol levels)	9.000000e-06
GCST004505_47	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	1.000000e-06
GCST004505_48	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	6.000000e-13
GCST004505_49	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	9.000000e-09
GCST004505_50	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	3.000000e-12
GCST004505_51	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	2.000000e-12
GCST004507_40	Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)	6.000000e-06
GCST004507_44	Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)	3.000000e-09
GCST004508_7	Waist-to-hip ratio adjusted for BMI in non-smokers	1.000000e-06
GCST004508_8	Waist-to-hip ratio adjusted for BMI in non-smokers	8.000000e-10
GCST004508_9	Waist-to-hip ratio adjusted for BMI in non-smokers	5.000000e-10
GCST004562_112	Waist circumference adjusted for body mass index	1.000000e-08
GCST004562_146	Waist circumference adjusted for body mass index	5.000000e-13
GCST004562_234	Waist circumference adjusted for body mass index	2.000000e-08
GCST004562_42	Waist circumference adjusted for body mass index	2.000000e-14
GCST004562_59	Waist circumference adjusted for body mass index	6.000000e-07
GCST004563_128	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	4.000000e-13
GCST004563_16	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	1.000000e-06
GCST004563_197	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	4.000000e-08
GCST004563_207	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	8.000000e-08
GCST004563_23	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	3.000000e-12
GCST004563_47	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	9.000000e-09
GCST004564_208	Waist circumference adjusted for BMI in active individuals	5.000000e-07
GCST004564_209	Waist circumference adjusted for BMI in active individuals	3.000000e-08

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007804	LDL cholesterol change measurement
EFO:0004318	smoking behavior
EFO:0007789	BMI-adjusted waist circumference
EFO:0008002	physical activity measurement
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0006335	systolic blood pressure
EFO:0004329	alcohol drinking
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0005763	pulse pressure measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	3
Tretinoin	increases expression, increases reaction	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
sotorasib	increases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	increases methylation	1
beta-lapachone	decreases expression	1
arsenite	increases methylation	1
methylparaben	decreases expression	1
sulforaphane	decreases expression	1
beta-methylcholine	affects expression	1
corosolic acid	increases expression	1
abrine	decreases expression	1
licochalcone B	decreases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Allergens	decreases expression	1
Amiodarone	increases expression	1
Hydrogen Peroxide	affects expression	1
Smoke	decreases expression	1
Triclosan	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	decreases methylation	1
Asbestos, Amosite	decreases methylation	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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