CD248

Summary

CD248 (CD248 molecule, HGNC:18219) is a protein-coding gene on chromosome 11q13.2, encoding Endosialin (Q9HCU0). Cell surface glycoprotein involved in various biological processes including angiogenesis, immune response modulation, and tissue remodeling and repair.

Predicted to enable extracellular matrix binding activity and extracellular matrix protein binding activity. Predicted to be involved in cell migration. Predicted to act upstream of or within several processes, including fibroblast migration; lymph node development; and positive regulation of endothelial cell apoptotic process. Located in extracellular exosome.

Source: NCBI Gene 57124 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 124 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_020404

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18219
Approved symbol	CD248
Name	CD248 molecule
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Aliases	TEM1
Ensembl gene	ENSG00000174807
Ensembl biotype	protein_coding
OMIM	606064
Entrez	57124

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000311330

RefSeq mRNA: 1 — MANE Select: NM_020404 NM_020404

CCDS: CCDS8134

Canonical transcript exons

ENST00000311330 — 1 exons

Exon	Start	End
ENSE00001189286	66314494	66317044

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 99.57.

FANTOM5 (CAGE): breadth broad, TPM avg 31.0968 / max 615.4816, expressed in 869 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120786	30.3147	867
120784	0.5399	262
120785	0.2422	130

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	99.57	gold quality
stromal cell of endometrium	CL:0002255	99.40	gold quality
subcutaneous adipose tissue	UBERON:0002190	97.45	gold quality
mucosa of stomach	UBERON:0001199	96.86	gold quality
adipose tissue	UBERON:0001013	96.29	gold quality
synovial joint	UBERON:0002217	96.17	gold quality
pericardium	UBERON:0002407	96.14	gold quality
omental fat pad	UBERON:0010414	95.88	gold quality
peritoneum	UBERON:0002358	95.86	gold quality
adipose tissue of abdominal region	UBERON:0007808	95.83	gold quality
endocervix	UBERON:0000458	95.42	gold quality
connective tissue	UBERON:0002384	95.31	gold quality
left uterine tube	UBERON:0001303	95.27	gold quality
ectocervix	UBERON:0012249	94.65	gold quality
skin of hip	UBERON:0001554	94.01	gold quality
nipple	UBERON:0002030	93.92	gold quality
saphenous vein	UBERON:0007318	93.87	gold quality
upper arm skin	UBERON:0004263	93.52	gold quality
vena cava	UBERON:0004087	93.42	gold quality
layer of synovial tissue	UBERON:0007616	93.41	gold quality
urethra	UBERON:0000057	93.19	gold quality
apex of heart	UBERON:0002098	93.06	gold quality
tendon of biceps brachii	UBERON:0008188	92.71	gold quality
right coronary artery	UBERON:0001625	92.29	gold quality
coronary artery	UBERON:0001621	92.19	gold quality
left coronary artery	UBERON:0001626	92.15	gold quality
gall bladder	UBERON:0002110	91.89	gold quality
periodontal ligament	UBERON:0008266	91.82	gold quality
placenta	UBERON:0001987	91.58	gold quality
caecum	UBERON:0001153	91.45	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	1249.48
E-MTAB-6701	yes	641.97
E-MTAB-10287	yes	251.48
E-HCAD-10	yes	42.36
E-MTAB-9543	yes	19.84
E-GEOD-84465	yes	7.27
E-MTAB-7037	no	913.41
E-CURD-112	no	2.43
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

10 targeting CD248, 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-4531	99.99	69.70	3181
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4669	97.94	62.71	224
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-563	96.26	66.13	450
HSA-MIR-555	95.92	65.25	564
HSA-MIR-380-5P	95.68	67.32	512

Literature-anchored findings (GeneRIF, showing 40)

• Endosialin colocalized with thrombomodulin, suggesting the proteins may have complementary functions in tumor progression. (PMID:15624764)
• Endosialin is a marker of stromal fibroblasts and is not selectively expressed on tumor endothelium. (PMID:15862292)
• results pinpoint to a molecular mechanism by which expression of endosialin/TEM1 in the tumor stroma and endothelium may support tumor progression and invasion (PMID:17986615)
• experiments unambiguously demonstrate that endosialin is expressed by tumor-associated myofibroblasts & mural cells & not by endothelial cells; results validate endosialin as marker of tumor-associated myofibroblasts & tumor vessel-associated mural cells (PMID:18187565)
• endosialin is not expressed in normal human adult brain but is strongly upregulated in the angiogenic vasculature of all high-grade glioma specimens examined (PMID:18192970)
• identified extracellular endosialin ligands and identified Mac-2 BP/90K as a specific interaction partner (PMID:18490383)
• expression of TEM1 or endosialin (CD248) and other TEM has been discovered in a population of vascular endothelial growth factor receptor 2+/CD31+/CD45-/VE-cadherin+ EPC derived from human CD133+/CD34+ cells (PMID:18723498)
• endosialin is strongly expressed by pericytes during periods of active angiogenesis during embryonic and tumor development (PMID:18761022)
• These findings elucidate important aspects of endosialin gene regulation (PMID:18813310)
• TEM1/endosialin was induced in the vasculature of high-grade brain tumors where its expression was inversely correlated with patient age. (PMID:19948061)
• Results provide evidence for a TEM-1-dependent signal pathway that controls proliferation of pericytes. (PMID:20484976)
• Endosialin expression may be involved in the progression of rectal cancers. (PMID:21362178)
• CD248 defines a subset of stromal cells, including but not limited to some myofibroblasts, linked to albuminuria and tubulointerstitial damage during tissue remodeling in CKD. (PMID:21490589)
• endosialin can be detected in advanced sarcoma (PMID:21537839)
• [review] CD248 is a C-type lectin-like domain-containing cell surface glycoprotein that is expressed by stromal cells of proliferating tissues during embryogenesis and postnatally in tumors and inflammatory lesions. (PMID:22206249)
• new monoclonal antibodies described in this paper are domain-specific and represent important reagents for the study of functional contributions of extracellular endosialin domains (PMID:22824847)
• The genes CD248, Ephb1 and P2RY2 were detected as the top overexpressed in GC biopsies. (PMID:24716914)
• The authors show that endosialin, a C-type lectin, expressed in the liver exclusively by HSC and portal fibroblasts, is upregulated in liver fibrosis in mouse and man. (PMID:25680861)
• MORAb-004 reduced CD248 on pericytes, impaired tumor microvasculature maturation and ultimately suppressed tumor development. (PMID:26327620)
• TEM1 expression in cancer-associated fibroblasts is correlated with a poor prognosis in patients with gastric cancer (PMID:26336878)
• CD248 overexpression is possibly involved in the pathogenesis of IPF and it has potential as a disease severity marker. (PMID:27080864)
• Tumour cell endosialin expression was seen in 89% of undifferentiated pleomorphic sarcomas, 77% of adult fibrosarcomas/spindle cell sarcomas, 62% of synovial sarcomas, 51% of leiomyosarcomas and 31% of rhabdomyosarcomas. (PMID:27434038)
• the data demonstrate a critical role for endosialin-expressing primary tumor pericytes in mediating metastatic dissemination and identify endosialin as a promising therapeutic target in breast cancer (PMID:27635044)
• Data show that podoplanin (PDPN), CD106 (VCAM-1) and CD248 protein were increased in diseased compared to healthy tendon cells. (PMID:28122639)
• Endosialin is a potential regulator of phenotypic remodeling of vascular smooth muscle cells contributing to atherosclerosis. (PMID:28126825)
• These findings identify novel protein interactions involving CLEC14A, CD93 and CD248 with MMRN2 as targetable components of vessel formation (PMID:28671670)
• In addition to EIF2AK4, which has been already suggested to be associated with pulmonary veno-occlusive disease, we identified the novel candidate genes ATP13A3, CD248, EFCAB4B, involved in lung vascular remodeling that represent reliable drivers contributing to the disease according to their biological functions/inheritance patterns (PMID:30679663)
• CD248 exerts detrimental effects on WAT phenotype and systemic glucose homeostasis which may be reversed by suppression of adipocyte CD248. Therefore, CD248 may constitute a target to treat obesity-associated co-morbidities. (PMID:31221584)
• CD248 contributes to tumor growth, fibrosis, and neoplastic angiogenesis. (Review) (PMID:31257535)
• Data show that endosialin protein (CD248) gene silencing as well as miR-125b-5p overexpression markedly reversed drug resistance and inhibited epithelial-mesenchymal transition in colon cancer cells. (PMID:31746054)
• Role of tumor endothelial marker 1 (Endosialin/CD248) lectin-like domain in lipopolysaccharide-induced macrophage activation and sepsis in mice. (PMID:33737161)
• Placental and plasma early predictive biomarkers for gestational diabetes mellitus. (PMID:35385222)
• Tumor endothelial marker 1 is upregulated in heart after cardiac injury and participates in cardiac remodeling. (PMID:35732643)
• Fibroblast expression of CD248 may contribute to exacerbation of microvascular damage during systemic sclerosis. (PMID:35916713)
• CD248 Regulates Wnt Signaling in Pericytes to Promote Angiogenesis and Tumor Growth in Lung Cancer. (PMID:35950912)
• Endosialin-positive tumor-derived pericytes promote tumor progression through impeding the infiltration of CD8[+] T cells in clear cell renal cell carcinoma. (PMID:36646951)
• Inflammatory Mesenchymal Stem Cells Express Abundant Membrane-Bound and Soluble Forms of C-Type Lectin-like CD248. (PMID:37298499)
• [Expression of endosialin in human hypertrophic scars and its regulation on fibroblast phenotype]. (PMID:38129304)
• TEM1/endosialin/CD248 promotes pathologic scarring and TGF-beta activity through its receptor stability in dermal fibroblasts. (PMID:38254097)
• IL-8 from CD248-expressing cancer-associated fibroblasts generates cisplatin resistance in non-small cell lung cancer. (PMID:38396325)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cd248	ENSMUSG00000056481
rattus_norvegicus	Cd248	ENSRNOG00000020197
caenorhabditis_elegans		WBGENE00000168
caenorhabditis_elegans		WBGENE00012018
caenorhabditis_elegans		WBGENE00013480
caenorhabditis_elegans		WBGENE00013486
caenorhabditis_elegans		WBGENE00013487
caenorhabditis_elegans		WBGENE00018906
caenorhabditis_elegans		WBGENE00019901
caenorhabditis_elegans		WBGENE00022858

Paralogs (8): DLL3 (ENSG00000090932), CD93 (ENSG00000125810), FBLN7 (ENSG00000144152), WIF1 (ENSG00000156076), CRELD1 (ENSG00000163703), DLK2 (ENSG00000171462), CLEC14A (ENSG00000176435), CRELD2 (ENSG00000184164)

Protein

Protein identifiers

Endosialin — Q9HCU0 (reviewed: Q9HCU0)

Alternative names: Tumor endothelial marker 1

All UniProt accessions (1): Q9HCU0

UniProt curated annotations — full annotation on UniProt →

Function. Cell surface glycoprotein involved in various biological processes including angiogenesis, immune response modulation, and tissue remodeling and repair. Participates in pericyte proliferation through positive modulation of the PDGF receptor signaling pathway. Acts as a scaffold for factor X, triggering allosteric changes and the spatial re-alignment of factor X with the TF-factor VIIa complex, thereby enhancing coagulation activation. Modulates the insulin signaling pathway by interacting with insulin receptor/INSR and by diminishing its capacity to be autophosphorylated in response to insulin. Also regulates LPS-induced inflammatory response in macrophages by favoring the production of proinflammatory cytokines. In human, negatively regulates T-cell proliferation compared with stromal cells where it increases proliferation.

Subunit / interactions. Interacts with PDGFRA; this interaction promotes PDGF receptor signaling pathway. Interacts with integrin beta-1/ITGB1. Interacts with insulin receptor/INSR; this interaction diminishes INSR autophosphorylation.

Subcellular location. Membrane.

Tissue specificity. Expressed in tumor endothelial cells but absent or barely detectable in normal endothelial cells. Expressed in metastatic lesions of the liver and during angiogenesis of corpus luteum formation and wound healing. Expressed in vascular endothelial cells of malignant tumors but not in normal blood vessels. Expressed in stromal fibroblasts. Strongly expressed in pericytes. Expressed on stromal cells and cells with lymphoid morphology such a T-cells.

Post-translational modifications. O-glycosylated with sialylated oligosaccharides. May be N-glycosylated.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9HCU0-1	1	yes
Q9HCU0-2	2

RefSeq proteins (1): NP_065137* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000742	EGF	Domain
IPR001304	C-type_lectin-like	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR051505	C-type_lectin_domain	Family
IPR057350	THBD	Domain

Pfam: PF00059, PF14670, PF25444

UniProt features (48 total): glycosylation site 27, disulfide bond 4, domain 3, compositionally biased region 2, topological domain 2, sequence variant 2, region of interest 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCU0-F1	63.70	0.30

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 (1): 746

Disulfide bonds (4): 131–147, 316–326, 322–335, 337–350

Glycosylation sites (27): 60, 401, 428, 448, 456, 459, 472, 519, 541, 543, 544, 545, 587, 593, 594, 595, 598, 601, 612, 619 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 151 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, SP3_Q3, GOBP_LYMPH_NODE_DEVELOPMENT, GOCC_CELL_SURFACE, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, XU_HGF_SIGNALING_NOT_VIA_AKT1_48HR_DN, chr11q13, SRF_Q5_01, SRF_01, GOBP_ANATOMICAL_STRUCTURE_REGRESSION, SRF_C, MARTINEZ_RB1_TARGETS_DN

GO Biological Process (8): fibroblast migration (GO:0010761), cell migration (GO:0016477), fibroblast proliferation (GO:0048144), positive regulation of fibroblast proliferation (GO:0048146), lymph node development (GO:0048535), anatomical structure regression (GO:0060033), endothelial cell apoptotic process (GO:0072577), positive regulation of endothelial cell apoptotic process (GO:2000353)

GO Molecular Function (5): calcium ion binding (GO:0005509), carbohydrate binding (GO:0030246), extracellular matrix binding (GO:0050840), extracellular matrix protein binding (GO:1990430), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), external side of plasma membrane (GO:0009897), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
cellular anatomical structure	2
ameboidal-type cell migration	1
cell motility	1
cell population proliferation	1
positive regulation of cell population proliferation	1
fibroblast proliferation	1
regulation of fibroblast proliferation	1
hematopoietic or lymphoid organ development	1
anatomical structure morphogenesis	1
developmental process	1
apoptotic process	1
positive regulation of apoptotic process	1
endothelial cell apoptotic process	1
regulation of endothelial cell apoptotic process	1
metal ion binding	1
protein binding	1
intracellular anatomical structure	1
plasma membrane	1
cell surface	1
side of membrane	1
external encapsulating structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

1900 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD248	FN1	P02751	966
CD248	RASD2	Q96D21	885
CD248	OXA1L	Q15070	882
CD248	UBAC1	Q9BSL1	875
CD248	PLXDC1	Q8IUK5	791
CD248	IPO5	O00410	657
CD248	CD109	Q6YHK3	613
CD248	VIM	P08670	599
CD248	APEH	P13798	594
CD248	ANXA4	P09525	569
CD248	CD68	P34810	564
CD248	LGALS3	P17931	531
CD248	ANTXR1	Q9H6X2	507
CD248	ADGRA2	Q96PE1	505
CD248	PDGFRB	P09619	496

IntAct

22 interactions, top by confidence:

A	B	Type	Score
CD248	LSAMP	psi-mi:“MI:0915”(physical association)	0.560
CD248	MAPK3	psi-mi:“MI:0915”(physical association)	0.560
CD248	ICAM5	psi-mi:“MI:0915”(physical association)	0.560
BAG6	CD248	psi-mi:“MI:0915”(physical association)	0.560
KLF11	CD248	psi-mi:“MI:0915”(physical association)	0.560
CD248	IL6R	psi-mi:“MI:0407”(direct interaction)	0.560
	AGPS	psi-mi:“MI:0915”(physical association)	0.400
TFAP2C	CD248	psi-mi:“MI:0915”(physical association)	0.370
		psi-mi:“MI:0914”(association)	0.350
MYC	ALB	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): CD248 (Synthetic Lethality), CD248 (Positive Genetic), LGALS3BP (Co-purification)

ESM2 similar proteins: A0A1B0GV85, A2ALI5, A2APT9, B0BN44, B1ARY8, B6ZI38, O14836, O35188, O55145, O60279, O60667, P07141, P09603, P0C8S2, P28906, P40225, P40226, P42705, P78423, Q06154, Q08DV9, Q13261, Q1ERP8, Q28270, Q2TB54, Q3UY90, Q4V9H3, Q4W8E7, Q5F267, Q5R770, Q60819, Q64314, Q6PAL1, Q6PCP7, Q6UXB8, Q80XI1, Q8BLK9, Q8CAE9, Q8CBC4, Q8JZQ0

Diamond homologs: A8WGB1, B3EWY9, B5DFC9, E1BMV3, G3V928, O19045, O43897, O57382, O73775, O75095, O88322, O88947, P00743, P07204, P07225, P10493, P13497, P14543, P15306, P21941, P23142, P25155, P25723, P35951, P37889, P48960, P51942, P53813, P98063, P98069, P98070, P98095, P98118, P98157, P98163, Q07954, Q08761, Q08879, Q09165, Q14112

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	102
Likely benign	10
Benign	11

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	Pathogenic

SpliceAI

21 predictions. Top by Δscore:

Variant	Effect	Δscore
11:66314913:CAG:C	acceptor_gain	0.7200
11:66314912:CCAG:C	acceptor_gain	0.6800
11:66314931:C:CT	acceptor_gain	0.6400
11:66314928:C:CT	acceptor_gain	0.5200
11:66314932:A:T	acceptor_gain	0.4500
11:66316087:T:C	donor_gain	0.4000
11:66314911:CCCAG:C	acceptor_gain	0.3700
11:66314914:A:T	acceptor_gain	0.2900
11:66316808:CCAGG:C	donor_gain	0.2900
11:66316054:A:C	donor_gain	0.2700
11:66316050:A:T	donor_gain	0.2600
11:66316621:G:A	donor_gain	0.2600
11:66316805:C:T	donor_gain	0.2600
11:66316809:CAGGC:C	donor_gain	0.2600
11:66316025:ACTC:A	acceptor_gain	0.2500
11:66316053:CAT:C	donor_gain	0.2500
11:66316066:A:T	donor_gain	0.2400
11:66316026:CTCG:C	acceptor_gain	0.2200
11:66316033:C:CT	donor_gain	0.2200
11:66316013:CG:C	acceptor_gain	0.2000
11:66316055:T:C	donor_gain	0.2000

AlphaMissense

4860 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:66316081:C:G	C316S	0.999
11:66316082:A:T	C316S	0.999
11:66316713:C:A	W105C	0.999
11:66316713:C:G	W105C	0.999
11:66316029:G:C	F333L	0.998
11:66316029:G:T	F333L	0.998
11:66316030:A:C	F333C	0.998
11:66316031:A:G	F333L	0.998
11:66316602:C:A	W142C	0.998
11:66316602:C:G	W142C	0.998
11:66316776:C:A	W84C	0.998
11:66316776:C:G	W84C	0.998
11:66316051:C:G	C326S	0.997
11:66316052:A:T	C326S	0.997
11:66316063:C:G	C322S	0.997
11:66316063:C:T	C322Y	0.997
11:66316064:A:T	C322S	0.997
11:66316677:C:A	W117C	0.997
11:66316677:C:G	W117C	0.997
11:66316024:C:G	C335S	0.996
11:66316025:A:T	C335S	0.996
11:66316082:A:G	C316R	0.996
11:66316099:C:G	C310S	0.996
11:66316100:A:T	C310S	0.996
11:66316719:G:C	F103L	0.996
11:66316719:G:T	F103L	0.996
11:66316721:A:G	F103L	0.996
11:66315979:C:G	C350S	0.995
11:66315980:A:T	C350S	0.995
11:66316051:C:T	C326Y	0.995

dbSNP variants (sampled 300 via entrez): RS1000695166 (11:66315240 G>A), RS1002976090 (11:66317547 T>C), RS1003127429 (11:66316649 G>A), RS1003282843 (11:66319008 G>A,T), RS1003720086 (11:66318745 G>A), RS1003725925 (11:66314221 C>T), RS1004403833 (11:66314601 C>T), RS1004637750 (11:66314342 G>C), RS1004860062 (11:66318151 T>A), RS1005018044 (11:66318281 A>G), RS1006253522 (11:66317235 T>G), RS1008130794 (11:66317079 G>A,C,T), RS1008345421 (11:66317271 T>C,G), RS1009407055 (11:66317357 T>G), RS1009853840 (11:66317513 C>G)

Disease associations

OMIM: gene MIM:606064 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001241_12	Bipolar disorder	2.000000e-07
GCST008103_21	Bipolar disorder	2.000000e-08
GCST010244_143	Triglyceride levels	1.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3712975 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, decreases methylation	2
sodium arsenite	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
incobotulinumtoxinA	increases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cadmium	increases abundance, decreases expression	1
Doxorubicin	increases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Potassium Dichromate	increases expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1
Tunicamycin	decreases expression	1
Ursodeoxycholic Acid	affects expression	1
Valproic Acid	decreases expression, increases methylation	1
1-Methyl-4-phenylpyridinium	increases expression	1
Tungsten Compounds	decreases expression	1

Clinical trials (associated diseases)

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