HLX

Summary

HLX (H2.0 like homeobox, HGNC:4978) is a protein-coding gene on chromosome 1q41, encoding H2.0-like homeobox protein (Q14774). Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression.

Enables sequence-specific DNA binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including embryonic digestive tract morphogenesis; enteric nervous system development; and regulation of T-helper cell differentiation. Predicted to be located in chromatin.

Source: NCBI Gene 3142 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 92 total
• Transcription factor: yes — 18 downstream targets (CollecTRI)
• MANE Select transcript: NM_021958

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4978
Approved symbol	HLX
Name	H2.0 like homeobox
Location	1q41
Locus type	gene with protein product
Status	Approved
Aliases	HB24
Ensembl gene	ENSG00000136630
Ensembl biotype	protein_coding
OMIM	142995
Entrez	3142

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000366903, ENST00000427693, ENST00000549319, ENST00000944514

RefSeq mRNA: 1 — MANE Select: NM_021958 NM_021958

CCDS: CCDS1527

Canonical transcript exons

ENST00000366903 — 4 exons

Exon	Start	End
ENSE00001442945	220879443	220880449
ENSE00002331383	220884195	220885059
ENSE00003501211	220882164	220882348
ENSE00003563901	220881194	220881373

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 92.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.7865 / max 220.0599, expressed in 1328 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8665	2.6929	824
8668	1.6893	726
8664	1.3023	517
8666	0.9211	444
8667	0.8941	394
8663	0.7648	503
8671	0.3028	130
8662	0.2192	116

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	92.64	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.51	gold quality
bone marrow	UBERON:0002371	90.20	gold quality
blood	UBERON:0000178	90.16	gold quality
placenta	UBERON:0001987	89.18	gold quality
calcaneal tendon	UBERON:0003701	89.01	gold quality
omental fat pad	UBERON:0010414	88.59	gold quality
upper lobe of left lung	UBERON:0008952	86.84	gold quality
adipose tissue	UBERON:0001013	86.18	gold quality
right lung	UBERON:0002167	86.10	gold quality
bone marrow cell	CL:0002092	85.59	gold quality
right lobe of liver	UBERON:0001114	85.24	gold quality
lung	UBERON:0002048	85.00	gold quality
colon	UBERON:0001155	84.71	gold quality
subcutaneous adipose tissue	UBERON:0002190	84.45	gold quality
monocyte	CL:0000576	84.12	gold quality
leukocyte	CL:0000738	83.86	gold quality
intestine	UBERON:0000160	83.30	gold quality
spleen	UBERON:0002106	83.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.79	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.07	gold quality
small intestine	UBERON:0002108	81.44	gold quality
apex of heart	UBERON:0002098	81.33	gold quality
heart left ventricle	UBERON:0002084	81.27	gold quality
granulocyte	CL:0000094	81.23	gold quality
transverse colon	UBERON:0001157	81.16	gold quality
vermiform appendix	UBERON:0001154	80.80	gold quality
colonic epithelium	UBERON:0000397	80.69	gold quality
right coronary artery	UBERON:0001625	80.47	gold quality
gall bladder	UBERON:0002110	80.31	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.58
E-CURD-112	no	2.79

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

18 targets.

Target	Regulation
BMP4
BTG1	Unknown
CCNB1	Activation
CD24	Activation
CDKN1C	Activation
CSF1
DPPA4
EGR1	Repression
ELK1	Activation
IFNG	Unknown
IGHG1
IL2RA
JUN	Activation
LEFTY2
MYC	Repression
PAK1	Unknown
THY1
TPM1

Upstream regulators (CollecTRI, top): POU5F1

miRNA regulators (miRDB)

10 targeting HLX, 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-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-92A-1-5P	98.28	64.51	631
HSA-MIR-33B-3P	97.92	67.39	529
HSA-MIR-515-3P	97.92	67.98	506
HSA-MIR-519E-3P	97.92	68.25	508

Literature-anchored findings (GeneRIF, showing 24)

• Decreased HLX1 expression is associated with idiopathic fetal growth restriction (PMID:16436665)
• Hlx expression in activated NK cells temporally controls and limits the monokine-induced production of interferon-gamma. (PMID:17110450)
• We have shown for the first time that a homeobox gene, HLX1, is a downstream effector gene of CSF-1, that HLX1 regulates placental cell proliferation and that CSF-1 acts, at least in part, through HLX1 to control cell proliferation. (PMID:17532041)
• HLX is primarily expressed in cytotrophoblast cell types in the human placenta and propose that HLX is involved in cytotrophoblast proliferation and downregulation of cell differentiation (PMID:18402755)
• polymorphisms in the HLX1 gene increase the risk for childhood asthma. (PMID:19038437)
• gene variants influence the development of childhood asthma (PMID:19295429)
• A risk score model indicates that TBX21 and HLX1 polymorphisms may have synergistic effects on asthma risk. (PMID:19362357)
• Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia (PMID:19459883)
• Cell cycle regulatory genes RB1, MYC, CCNB1, ELK1, JUN, and CDKN1C, which control important trophoblast cell functions, are targets of HLX. (PMID:20008130)
• HLX is a mediator of HGF/c-met-dependent trophoblast migration but is not involved in the regulation of trophoblast invsion. (PMID:20554918)
• These data suggest that HLX may function to balance attractive with repulsive vessel guidance by up-regulating UNC5B and to down-modulate sprouting under normoxic conditions. (PMID:21224470)
• a functional polymorphism in HLX in combination with the TBX21 polymorphism is also associated with the prognosis of Graves’ disease. (PMID:22014209)
• This study investigated the influence of TBX21 and HLX1 single nucleotide polymorphisms (SNPs), which have previously been shown to be associated with asthma, on T(H)1/T(H)2 lineage cytokines at birth. (PMID:22303482)
• This study identifies HLX as a key regulator in immature hematopoietic and leukemia cells and as a prognostic marker and therapeutic target in acute myeloid leukemia. (PMID:22897850)
• Data suggest that HLX1 is downstream mediator of hepatocyte growth factor- (HGF-) induced cell survival, cell proliferation, and invasive properties of trophoblast cells; thus, both HGF and HLX1 appear to be involved in normal placental development. (PMID:22989111)
• The expression levels of Hlx, T-bet, and IFN-gamma were significantly decreased. (PMID:23243425)
• Studies have identified HLX as a novel key transcription factor involved in the regulation of early hematopoiesis and AML pathogenesis. (PMID:23888188)
• HLX1 is significantly downregulated in HCC and suggests that HLX1 has suppressive effects on HCC growth and metastasis. Accordingly, HLX1 may act as a tumor suppressor in HCC. (PMID:26631039)
• Two differentiation-related genes, HHEX and HLX, are promoters of early phase reprogramming toward pluripotency. (PMID:27335261)
• Prdm16 interacts with the transcription factor Hlx, which is stabilized in response to beta3-adrenergic signaling, to increase thermogenic gene expression and mitochondrial biogenesis in subcutaneous WAT. (PMID:28701693)
• HLX is a homeobox transcription factor gene which is relatively conserved across species. Hlx homozygous null mice have a short bowel and reduced muscle cells in the diaphragm, closely resembling the anomalies in the two fetuses and we therefore suggest that the HLX mutation in this family could explain the fetal findings (PMID:28898547)
• An important association between HLX transcription factor expression and abnormal human placental development in discordant twin pregnancies. (PMID:29212571)
• HLX has a role in coordinating metabolic interplay regulates myeloid differentiation both in zebrafish and human hematopoietic stem and progenitor cells and in acute myeloid leukemia through partly overlapping pathways (PMID:30082823)
• Epstein-Barr virus (EBV) activates NKL homeobox gene HLX in DLBCL. (PMID:31141539)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	hlx1	ENSDARG00000009134
mus_musculus	Hlx	ENSMUSG00000039377
rattus_norvegicus	Hlx	ENSRNOG00000002309
drosophila_melanogaster	H2.0	FBGN0001170

Paralogs (3): DBX1 (ENSG00000109851), DBX2 (ENSG00000185610), LEUTX (ENSG00000213921)

Protein

Protein identifiers

H2.0-like homeobox protein — Q14774 (reviewed: Q14774)

Alternative names: Homeobox protein HB24, Homeobox protein HLX1

All UniProt accessions (2): Q14774, F8VWZ5

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis.

Subcellular location. Nucleus.

Tissue specificity. Low level in normal B and T-cells, high level in activated lymphocytes and monocytes. Also found in thymus, tonsil, bone marrow, developing vessels, and fetal brain.

Similarity. Belongs to the H2.0 homeobox family.

RefSeq proteins (1): NP_068777* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000047	HTH_motif	Conserved_site
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR020479	HD_metazoa	Domain
IPR052497	H2.0_Homeobox_TF	Family

Pfam: PF00046

UniProt features (17 total): compositionally biased region 8, sequence variant 3, sequence conflict 2, region of interest 2, chain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14774-F1	56.79	0.13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 357 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, RNGTGGGC_UNKNOWN, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, YAGI_AML_WITH_INV_16_TRANSLOCATION, LU_IL4_SIGNALING, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, MODULE_522, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION

GO Biological Process (18): liver development (GO:0001889), signal transduction (GO:0007165), skeletal muscle tissue development (GO:0007519), organ growth (GO:0035265), T-helper 1 cell differentiation (GO:0045063), T-helper 2 cell differentiation (GO:0045064), positive regulation of T-helper 1 cell differentiation (GO:0045627), negative regulation of T-helper 2 cell differentiation (GO:0045629), positive regulation of organ growth (GO:0046622), enteric nervous system development (GO:0048484), embryonic digestive tract morphogenesis (GO:0048557), epithelial cell proliferation (GO:0050673), positive regulation of epithelial cell proliferation (GO:0050679), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), cell population proliferation (GO:0008283), cell differentiation (GO:0030154), animal organ development (GO:0048513)

GO Molecular Function (4): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
alpha-beta T cell activation involved in immune response	2
T cell differentiation involved in immune response	2
T-helper cell differentiation	2
gland development	1
hepaticobiliary system development	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
striated muscle tissue development	1
skeletal muscle organ development	1
multicellular organismal process	1
developmental growth	1
T-helper 1 type immune response	1
type 2 immune response	1
positive regulation of immune effector process	1
T-helper 1 cell differentiation	1
positive regulation of T-helper cell differentiation	1
regulation of T-helper 1 cell differentiation	1
negative regulation of immune effector process	1
negative regulation of type 2 immune response	1
T-helper 2 cell differentiation	1
negative regulation of T-helper cell differentiation	1
regulation of T-helper 2 cell differentiation	1
organ growth	1
regulation of organ growth	1
positive regulation of developmental growth	1
positive regulation of multicellular organismal process	1
autonomic nervous system development	1
system development	1
digestive tract morphogenesis	1
embryonic organ morphogenesis	1
embryonic digestive tract development	1
cell population proliferation	1
positive regulation of cell population proliferation	1
epithelial cell proliferation	1
regulation of epithelial cell proliferation	1
DNA-templated transcription	1
regulation of gene expression	1

Protein interactions and networks

STRING

860 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HLX	TBX21	Q9UL17	889
HLX	IL12RB2	Q99665	638
HLX	TGFB2	P08112	602
HLX	STAT4	Q14765	591
HLX	EOMES	O95936	555
HLX	ZNF148	Q9UQR1	499
HLX	HELLS	Q9NRZ9	478
HLX	NKX6-3	A6NJ46	475
HLX	IKZF1	Q13422	469
HLX	ESRRG	P62508	458
HLX	GLIS2	Q9BZE0	447
HLX	EZH2	Q15910	444
HLX	USH2A	O75445	430
HLX	SMAD7	O15105	403
HLX	RUNX3	Q13761	399

IntAct

34 interactions, top by confidence:

A	B	Type	Score
CYSRT1	HLX	psi-mi:“MI:0915”(physical association)	0.560
HLX	DTX2	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	HLX	psi-mi:“MI:0915”(physical association)	0.560
ATXN1L	HLX	psi-mi:“MI:0915”(physical association)	0.560
FOXH1	HLX	psi-mi:“MI:0915”(physical association)	0.560
HLX	MIEN1	psi-mi:“MI:0915”(physical association)	0.560
HLX	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
HLX	LONRF1	psi-mi:“MI:0915”(physical association)	0.560
HLX	SUZ12	psi-mi:“MI:0915”(physical association)	0.470
HLX	SUZ12	psi-mi:“MI:2364”(proximity)	0.470
HLX	SCAF4	psi-mi:“MI:0914”(association)	0.350
HLX	TMOD1	psi-mi:“MI:0914”(association)	0.350
HLX	TLE1	psi-mi:“MI:0914”(association)	0.350
HDAC1	HLX	psi-mi:“MI:2364”(proximity)	0.270
EZH2	HLX	psi-mi:“MI:2364”(proximity)	0.270
EED	HLX	psi-mi:“MI:2364”(proximity)	0.270
HLX	CYSRT1	psi-mi:“MI:0915”(physical association)	0.000
DTX2	HLX	psi-mi:“MI:0915”(physical association)	0.000
PRR20D	HLX	psi-mi:“MI:0915”(physical association)	0.000
C14orf119	HLX	psi-mi:“MI:0915”(physical association)	0.000
LONRF1	HLX	psi-mi:“MI:0915”(physical association)	0.000
ATXN1L	HLX	psi-mi:“MI:0915”(physical association)	0.000
FOXH1	HLX	psi-mi:“MI:0915”(physical association)	0.000
MIEN1	HLX	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (52): HLX (Affinity Capture-RNA), HLX (Two-hybrid), CEP120 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE4 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), TLE1 (Affinity Capture-MS), AES (Affinity Capture-MS), CSNK2A1 (Affinity Capture-MS), SEPHS1 (Affinity Capture-MS), TLE3 (Affinity Capture-MS), CSNK2A2 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), SCAF4 (Affinity Capture-MS)

ESM2 similar proteins: A0A8V0YY16, A0JPN1, A7MB54, A8MTJ6, O35762, O42115, O57601, O88181, O95096, P09065, P23683, P28356, P31311, P31315, P32443, P39020, P42581, P42586, P43697, P48031, P49640, P50222, P50476, P52951, P52954, P52955, P78426, P81067, P81068, P97334, Q14549, Q14774, Q1KKY1, Q1XID0, Q2NKI2, Q2VL76, Q2VL80, Q4V5A3, Q5SQQ9, Q60554

Diamond homologs: A0JPN1, A1YG85, A5PKG8, A6NJ46, A6NMT0, A7MB54, A9L937, B0VXK3, D2KQB0, E7FDX5, M0R6D8, O08686, O13023, O35762, O42365, O43364, O43711, O55144, O88181, O93366, O93367, O93590, P0C1T1, P10035, P14652, P14837, P20009, P28468, P31245, P31246, P31261, P31314, P42583, P42584, P43120, P43345, P43688, P50219, P52945, P52950

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
POU5F1	“down-regulates quantity by repression”	HLX	“transcriptional regulation”
HLX	“up-regulates quantity by expression”	CCNB1	“transcriptional regulation”
HLX	“up-regulates quantity by expression”	CDKN1C	“transcriptional regulation”
HLX	“down-regulates quantity by repression”	EGR1	“transcriptional regulation”
HLX	“up-regulates quantity by expression”	ELK1	“transcriptional regulation”
HLX	“up-regulates quantity by expression”	JUN	“transcriptional regulation”
HLX	“down-regulates quantity by repression”	MYC	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

451 predictions. Top by Δscore:

Variant	Effect	Δscore
1:220880446:AGAGG:A	donor_loss	1.0000
1:220880447:GAG:G	donor_gain	1.0000
1:220880449:GGTA:G	donor_loss	1.0000
1:220880450:GTAG:G	donor_loss	1.0000
1:220881185:T:TA	acceptor_gain	1.0000
1:220881188:CCCCA:C	acceptor_loss	1.0000
1:220881189:CCCA:C	acceptor_loss	1.0000
1:220881190:CCAG:C	acceptor_loss	1.0000
1:220881191:CAGAT:C	acceptor_loss	1.0000
1:220881192:A:AG	acceptor_gain	1.0000
1:220881192:A:C	acceptor_loss	1.0000
1:220881193:G:GG	acceptor_gain	1.0000
1:220881193:GAT:G	acceptor_gain	1.0000
1:220881369:TCCAG:T	donor_loss	1.0000
1:220881370:CCAGG:C	donor_loss	1.0000
1:220881371:CAG:C	donor_loss	1.0000
1:220881374:GTAC:G	donor_loss	1.0000
1:220882144:T:TA	acceptor_gain	1.0000
1:220882145:G:A	acceptor_gain	1.0000
1:220882151:C:A	acceptor_gain	1.0000
1:220882156:T:A	acceptor_gain	1.0000
1:220882158:C:CA	acceptor_gain	1.0000
1:220882159:G:A	acceptor_gain	1.0000
1:220882159:GGCA:G	acceptor_loss	1.0000
1:220882160:GCA:G	acceptor_loss	1.0000
1:220882161:CA:C	acceptor_loss	1.0000
1:220882162:A:AG	acceptor_gain	1.0000
1:220882162:A:G	acceptor_loss	1.0000
1:220882163:G:GC	acceptor_loss	1.0000
1:220882163:G:GG	acceptor_gain	1.0000

AlphaMissense

3164 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:220880383:T:C	F176L	1.000
1:220880385:T:A	F176L	1.000
1:220880385:T:G	F176L	1.000
1:220880399:T:C	I181T	1.000
1:220882223:T:A	W278R	1.000
1:220882223:T:C	W278R	1.000
1:220882225:G:C	W278C	1.000
1:220882225:G:T	W278C	1.000
1:220882229:C:A	R280S	1.000
1:220882229:C:G	R280G	1.000
1:220882229:C:T	R280C	1.000
1:220882230:G:A	R280H	1.000
1:220882233:C:A	A281D	1.000
1:220882236:T:A	V282E	1.000
1:220882238:T:A	F283I	1.000
1:220882238:T:C	F283L	1.000
1:220882238:T:G	F283V	1.000
1:220882239:T:C	F283S	1.000
1:220882239:T:G	F283C	1.000
1:220882240:C:A	F283L	1.000
1:220882240:C:G	F283L	1.000
1:220882242:C:A	S284Y	1.000
1:220882242:C:T	S284F	1.000
1:220882248:T:C	L286P	1.000
1:220882252:G:C	Q287H	1.000
1:220882252:G:T	Q287H	1.000
1:220882254:G:T	R288M	1.000
1:220882255:G:C	R288S	1.000
1:220882255:G:T	R288S	1.000
1:220882259:G:C	G290R	1.000

dbSNP variants (sampled 300 via entrez): RS1000296405 (1:220884582 G>A), RS1000544653 (1:220878827 A>G), RS1001151255 (1:220879804 C>T), RS1001419455 (1:220881125 A>G), RS1001812349 (1:220884922 A>G,T), RS1002946975 (1:220878103 T>A), RS1003729091 (1:220882951 G>A), RS1003956394 (1:220878066 C>A), RS1004064878 (1:220884046 A>C), RS1004395743 (1:220885463 C>T), RS1004718170 (1:220884011 G>A,T), RS1005104861 (1:220885544 G>A), RS1006273840 (1:220880794 C>A,T), RS1006933988 (1:220883653 G>A), RS1007184923 (1:220877704 A>G)

Disease associations

OMIM: gene MIM:142995 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST001762_677	Obesity-related traits	2.000000e-06
GCST003072_1	Cerebrospinal fluid AB1-42 levels	9.000000e-08
GCST003678_10	C-reactive protein levels or total cholesterol levels (pleiotropy)	7.000000e-09
GCST004063_68	Waist circumference adjusted for body mass index	8.000000e-09
GCST004063_8	Waist circumference adjusted for body mass index	3.000000e-08
GCST004500_124	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	1.000000e-06
GCST004501_62	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	3.000000e-06
GCST004608_45	Granulocyte percentage of myeloid white cells	8.000000e-13
GCST004609_131	Monocyte percentage of white cells	1.000000e-12
GCST006479_139	Diverticular disease	1.000000e-08
GCST007429_59	Lung function (FVC)	4.000000e-22
GCST007432_36	FEV1	8.000000e-15
GCST007930_58	Medication use (agents acting on the renin-angiotensin system)	2.000000e-08
GCST010173_80	Triglyceride levels	9.000000e-13
GCST010243_16	Apolipoprotein B levels	2.000000e-13
GCST010320_142	PR interval	3.000000e-11
GCST010321_181	PR interval	5.000000e-13
GCST012226_424	Waist circumference adjusted for body mass index	2.000000e-08
GCST90002382_26	Eosinophil percentage of white cells	2.000000e-16
GCST90002394_96	Monocyte percentage of white cells	8.000000e-23
GCST90002398_510	Neutrophil count	6.000000e-18
GCST90002407_201	White blood cell count	6.000000e-16
GCST90011898_33	Alanine aminotransferase levels	1.000000e-31
GCST90011899_103	Aspartate aminotransferase levels	3.000000e-10
GCST90020024_849	A body shape index	1.000000e-10
GCST90020027_1560	Waist-hip index	3.000000e-08
GCST90020029_593	Waist circumference adjusted for body mass index	5.000000e-09

EFO canonical traits (19, from GWAS)

EFO ID	Trait name
EFO:0005134	amino acid measurement
EFO:0004670	beta-amyloid 1-42 measurement
EFO:0004458	C-reactive protein measurement
EFO:0004574	total cholesterol measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004318	smoking behavior
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0009959	diverticular disease
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0004530	triglyceride measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004462	PR interval
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0004736	aspartate aminotransferase measurement
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects cotreatment, increases expression	1
deoxynivalenol	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
terbufos	increases methylation	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
diallyl trisulfide	increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
Am 580	decreases expression	1
entinostat	decreases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	decreases expression, increases reaction	1
gardiquimod	decreases reaction, increases expression	1
Rosiglitazone	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Chelating Agents	decreases expression, affects binding	1
Cisplatin	decreases expression, increases reaction	1
Copper	affects binding, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Fonofos	increases methylation	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A2R7	SEES3-1V human HLX, clone1	Embryonic stem cell	Male
CVCL_A2R8	SEES3-1V human HLX, clone2	Embryonic stem cell	Male
CVCL_A2R9	SEES3-1V human HLX, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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