ESM1

Summary

ESM1 (endothelial cell specific molecule 1, HGNC:3466) is a protein-coding gene on chromosome 5q11.2, encoding Endothelial cell-specific molecule 1 (Q9NQ30). Involved in angiogenesis; promotes angiogenic sprouting.

This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 11082 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_007036

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3466
Approved symbol	ESM1
Name	endothelial cell specific molecule 1
Location	5q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000164283
Ensembl biotype	protein_coding
OMIM	601521
Entrez	11082

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000381403, ENST00000381405, ENST00000598310, ENST00000601836

RefSeq mRNA: 2 — MANE Select: NM_007036 NM_001135604, NM_007036

CCDS: CCDS3963, CCDS47206

Canonical transcript exons

ENST00000381405 — 3 exons

Exon	Start	End
ENSE00001083080	54985217	54985593
ENSE00001083082	54981997	54982146
ENSE00001866876	54977867	54979435

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 91.60.

FANTOM5 (CAGE): breadth broad, TPM avg 12.5920 / max 2262.7855, expressed in 502 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61673	11.3063	469
61675	0.3804	160
61678	0.2952	129
61674	0.2352	115
61676	0.1759	86
61677	0.1157	54
61672	0.0832	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	91.60	gold quality
right lung	UBERON:0002167	87.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.13	gold quality
trabecular bone tissue	UBERON:0002483	78.49	silver quality
upper lobe of left lung	UBERON:0008952	76.37	gold quality
upper lobe of lung	UBERON:0008948	76.22	gold quality
adult mammalian kidney	UBERON:0000082	75.44	gold quality
lower lobe of lung	UBERON:0008949	73.50	gold quality
adrenal tissue	UBERON:0018303	73.25	gold quality
cortex of kidney	UBERON:0001225	72.57	gold quality
kidney	UBERON:0002113	72.18	gold quality
metanephros cortex	UBERON:0010533	70.96	gold quality
visceral pleura	UBERON:0002401	70.84	gold quality
lung	UBERON:0002048	69.61	gold quality
metanephros	UBERON:0000081	67.79	gold quality
tibia	UBERON:0000979	67.44	silver quality
pleura	UBERON:0000977	65.16	silver quality
metanephric glomerulus	UBERON:0004736	65.02	silver quality
renal glomerulus	UBERON:0000074	63.56	silver quality
parotid gland	UBERON:0001831	63.33	gold quality
choroid plexus epithelium	UBERON:0003911	63.08	silver quality
pancreas	UBERON:0001264	62.90	gold quality
saliva-secreting gland	UBERON:0001044	62.69	gold quality
seminal vesicle	UBERON:0000998	62.68	silver quality
cartilage tissue	UBERON:0002418	62.66	gold quality
parietal pleura	UBERON:0002400	62.65	gold quality
bone marrow cell	CL:0002092	62.49	gold quality
kidney epithelium	UBERON:0004819	62.35	silver quality
minor salivary gland	UBERON:0001830	62.25	gold quality
endometrium	UBERON:0001295	62.14	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-8271	yes	522.74
E-HCAD-4	yes	22.14
E-CURD-112	yes	8.85
E-MTAB-5061	yes	6.01
E-ANND-3	no	2.87

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HHEX

miRNA regulators (miRDB)

78 targeting ESM1, 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-8485	100.00	77.57	4731
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3671	99.90	73.04	3897

Literature-anchored findings (GeneRIF, showing 40)

• Identification of endothelial cell genes expressed in an in vitro model of angiogenesis: induction of ESM-1, (beta)ig-h3, and NrCAM. (PMID:11866539)
• demonstrate that a small 139-bp core promoter fragment contains information for endothelial-cell-specific expression in vitro (PMID:12011586)
• Hhex-mediated repression of ESM-1 is critical for the normal function of the vascular endothelium and for tumor vasculogenesis. (PMID:16764824)
• Endocan is overexpressed in non-small cell lung tumors compared with healthy lung and probably represents a response of tumoral endothelium to proangiogenic growth factor stimulation. (PMID:16899604)
• VEGF-A is a specific inducer of endocan transcription which is translated into increased protein levels in VEGF-A treated endothelial cells. Increased endocan protein expression in human renal cancer suggests a role in tumor growth. (PMID:17362927)
• Endocan-microvessel density was a significant factor to predict the prognosis of hepatocellular carcinoma patients after curative hepatectomy. (PMID:18592377)
• Incubation of lymphatic endothelial cells (LEC) with ESM-1 increased the stimulatory effects of both VEGF-A and VEGF-C on LEC proliferation and migration, whereas ESM-1 alone had no effect (PMID:18614759)
• The expression of endocan is down-regulated in colorectal cancer and is positively correlated with the tissue differentiation in colorectal cancer. (PMID:18680240)
• This study suggests that endocan is associated with abnormal vasculature in high-grade gliomas. (PMID:19458546)
• The expression of ESM-1 is significantly up-regulated in hepatocellular carcinoma, and is associated with angiogenesis and tumor invasion. (PMID:19785952)
• endocan is overexpressed in patients with renal clear cell carcinomas (PMID:20102396)
• Higher expression of the ESM1 is associated with gastric cancer. (PMID:20383661)
• Over-expression of the Endocan gene in endothelial cells from hepatocellular carcinoma is associated with angiogenesis and tumour invasion. (PMID:20515564)
• Gene silencing of ESM-1 decreased cell survival, migration, an invasion in hepatocellular carcinoma. (PMID:20821239)
• endocan may act as a marker for angiogenesis or oncogenesis and could be regarded as a candidate gene for inflammatory tissue, neoplasia, tumor development and metastasis (PMID:21526908)
• increased expression on microvascular endothelial cells following peripheral blood stem cell harvesting in patients with multiple myeloma (PMID:21905955)
• Data suggest that serum endocan is a disease marker in AML. (PMID:22183069)
• The immunolabeling of endocan in endothelial cells may therefore appear to be a relevant marker of aggressive behavior in pituitary tumors. (PMID:22353248)
• ESM-1 overexpression in HCT-116 cells enhanced cell proliferation through the Akt-dependent activation of NF-kappa-B pathway. (PMID:22735811)
• results showed that ESM-1 is significantly overexpressed, which is regulated by HIF-1alpha in colorectal cancer (CRC) patients, and can be used as a potential biomarker and a therapeutic target for CRC (PMID:22948784)
• Endocan is upregulated on tumor vessels in invasive bladder cancer where it mediates VEGF-A-induced angiogenesis. (PMID:23243026)
• p14 endocan fragment represents a novel interesting biomarker which could participate to the pathogenesis of sepsis (PMID:23454598)
• Significant correlation between LMP1 and endocan expression was observed (p<0.0001). Moreover, NPC patients with endocan expression were found to have a shorter survival than NPC patients without endocan expression expression. (PMID:24340011)
• Suggest that increased circulating endocan levels represent a new marker in patients with essential hypertension. (PMID:24402320)
• This study shows endocan can elicit severe inflammatory responses and inhibiting endocan release offers a potential strategy for treating sepsis. (PMID:24446198)
• Endocan can be used as strong and significant predictor of sepsis severity and outcome. (PMID:24769132)
• Our findings suggest that upregulation of endocan expression in proliferative diabetic retinopathy could be a reflection of endothelial cell activation associated with angiogenesis. (PMID:24871583)
• endocan expression was found to be an independent prognostic factor for survival and Endocan promoted gastric cancer cell proliferation (PMID:25012244)
• This study suggests that serum ESM-1 level is increased in patients with gastric cancer (PMID:25056533)
• Endocan is a promising biomarker to predict the disease severity and mortality in patients with acute respiratory distress syndrome. (PMID:25132734)
• Endocan, a new biomarker of endothelial pathology, is significantly increased in patients with acute coronary syndrome but does not correlate with severity of coronary artery disease. (PMID:25168956)
• Median maternal plasma endocan concentrations were higher in preeclampsia and lower in acute pyelonephritis with bacteremia than in uncomplicated pregnancy. (PMID:25211383)
• study suggest that amlodipine and valsartan decrease endocan levels in newly diagnosed hypertensive (PMID:25390761)
• Elevated endocan levels were more strongly associated with disease severity among Johnson Syndrome, Toxic Epidermal Necrolysis subjects than among less severe allergic reactions with skin involvement. (PMID:25394955)
• this study did not demonstrate any significant difference between endocan levels of women with pre-eclampsia and those with uncomplicated pregnancies (PMID:25534164)
• Endocan levels are related to endothelial dysfunction in humans in vivo during systemic inflammation evoked by experimental endotoxemia (PMID:25565643)
• Results reveal a novel pathway for endocan in the control of tumor growth, which involves inflammatory cells of the innate immunity. (PMID:25575808)
• In bacteremic cases, serum endocan levels in bacteremia tended to be higher than in non-bacteremic cases. (PMID:25894539)
• higher levels of Endocan-1 were found in maternal plasma in pre-eclamptic group; placental Endocan-1 levels were lower in pre-eclampsia and fetal levels did not show any difference between groups; upregulation of maternal plasma Endocan-1 in the pre-eclamptic group was observed when when stratified in relation to gestational age, systolic blood pressure and proteinuria (PMID:25957465)
• Suggest that serum endocan concentrations are elevated in patients with type 2 diabetes and decrease following anti-hyperglycemic treatment. (PMID:25969567)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	esm1	ENSDARG00000104370
mus_musculus	Esm1	ENSMUSG00000042379
rattus_norvegicus	Esm1	ENSRNOG00000010797

Protein

Protein identifiers

Endothelial cell-specific molecule 1 — Q9NQ30 (reviewed: Q9NQ30)

All UniProt accessions (2): Q9NQ30, M0R154

UniProt curated annotations — full annotation on UniProt →

Function. Involved in angiogenesis; promotes angiogenic sprouting. May have potent implications in lung endothelial cell-leukocyte interactions.

Subunit / interactions. Monomer.

Subcellular location. Secreted.

Tissue specificity. Expressed in lung, on the vascular capillary network within alveolar walls, and also at lower level in kidney.

Post-translational modifications. May contain intrachain disulfide bonds. O-glycosylated; contains chondroitin sulfate and dermatan sulfate.

Induction. By TNF and IL1B/interleukin-1 beta, but not IL4/interleukin-4.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NQ30-1	1	yes
Q9NQ30-2	2

RefSeq proteins (2): NP_001129076, NP_008967* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000867	IGFBP-like	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR038850	ESM1	Family

Pfam: PF00219

UniProt features (13 total): disulfide bond 6, sequence conflict 2, signal peptide 1, chain 1, splice variant 1, domain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQ30-F1	72.15	0.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (6): 28–51, 32–53, 37–54, 43–57, 65–83, 77–99

Glycosylation sites (1): 156

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 213 (showing top): GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, HINATA_NFKB_TARGETS_KERATINOCYTE_UP, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_SPROUTING_ANGIOGENESIS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, KMCATNNWGGA_UNKNOWN, WTGAAAT_UNKNOWN, TCF11_01, GOBP_BLOOD_VESSEL_MORPHOGENESIS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, TGACATY_UNKNOWN, CREB_Q2_01, HFH1_01, MORF_BMPR2

GO Biological Process (4): angiogenesis (GO:0001525), sprouting angiogenesis (GO:0002040), positive regulation of cell population proliferation (GO:0008284), positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)

GO Molecular Function (4): hepatocyte growth factor receptor binding (GO:0005171), integrin binding (GO:0005178), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), extracellular matrix (GO:0031012)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
angiogenesis	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
positive regulation of signal transduction	1
hepatocyte growth factor receptor signaling pathway	1
regulation of hepatocyte growth factor receptor signaling pathway	1
growth factor receptor binding	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
structural molecule activity	1
extracellular matrix	1
binding	1
cellular anatomical structure	1
external encapsulating structure	1

Protein interactions and networks

STRING

1198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ESM1	ITGAL	P20701	796
ESM1	ITGB2	P05107	748
ESM1	SDC1	P18827	587
ESM1	HGF	P14210	577
ESM1	ANGPT2	O15123	574
ESM1	CDH5	P33151	554
ESM1	DLL4	Q9NR61	542
ESM1	ICAM2	P13598	541
ESM1	PDGFB	P01127	531
ESM1	CLDN5	O00501	523
ESM1	IL1B	P01584	520
ESM1	EMCN	Q9ULC0	485
ESM1	APLN	Q9ULZ1	469
ESM1	ICAM3	P32942	462
ESM1	MDK	P21741	460

IntAct

53 interactions, top by confidence:

A	B	Type	Score
ANKS1A	ESM1	psi-mi:“MI:0915”(physical association)	0.560
HDAC7	ESM1	psi-mi:“MI:0915”(physical association)	0.560
AQP1	ESM1	psi-mi:“MI:0915”(physical association)	0.560
NUFIP2	ESM1	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	ESM1	psi-mi:“MI:0915”(physical association)	0.560
ADAM12	ESM1	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	ESM1	psi-mi:“MI:0915”(physical association)	0.560
VGLL3	ESM1	psi-mi:“MI:0915”(physical association)	0.560
NRF1	ESM1	psi-mi:“MI:0915”(physical association)	0.560
FRS3	ESM1	psi-mi:“MI:0915”(physical association)	0.560
FAM124B	ESM1	psi-mi:“MI:0915”(physical association)	0.560
YY1	ESM1	psi-mi:“MI:0915”(physical association)	0.560
BANP	ESM1	psi-mi:“MI:0915”(physical association)	0.560
PRKAB2	ESM1	psi-mi:“MI:0915”(physical association)	0.560
ESM1	WFS1	psi-mi:“MI:0915”(physical association)	0.560
ESM1	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
ESM1	RNF11	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (21): ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), ESM1 (Two-hybrid), BANP (Two-hybrid), VGLL3 (Two-hybrid), AQP1 (Two-hybrid), ESM1 (Affinity Capture-Western)

ESM2 similar proteins: A0A023FBW7, A0A023FDY8, A0A023FFB5, A0A023FT45, A0A023G6B6, A0A023G9N9, A8CZZ0, A8CZZ1, A8CZZ8, B7XFU7, B7XFU8, C8BKF2, C8BKF3, G3MIX6, G3MJ83, L7M8Z8, O35736, O70514, P08505, P0C7L1, P0C8E7, P15514, P20607, P20826, P21581, P21583, P26893, P79169, P79368, Q06220, Q09108, Q09TK9, Q14512, Q28132, Q29030, Q5R6N2, Q6X784, Q802A9, Q8MUP7, Q8N3H0

Diamond homologs: A0JNK3, A2RNT9, A2RT60, A4IHA1, A4XSC0, A5PKD8, A5W8F5, A6VUA4, A6YFB5, A9JRB3, B0KV30, B1J4D7, B3LVG7, B3P3J9, B4G316, B4HEM8, B4JTT7, B4K835, B4LY58, B4N937, B4PST0, B4QZU6, D0ZY51, D3ZA76, D3ZKF5, E1BJW1, E1V4H2, F1N152, F6AA62, O05942, O06291, O22609, O31754, O34358, O43464, O53896, O85291, P05676, P0A3Z5, P0AEE3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

447 predictions. Top by Δscore:

Variant	Effect	Δscore
5:54978828:C:CT	acceptor_gain	0.9900
5:54978829:A:T	acceptor_gain	0.9900
5:54979434:CT:C	acceptor_gain	0.9900
5:54982143:CAGT:C	acceptor_gain	0.9900
5:54985413:A:AC	donor_gain	0.9900
5:54985414:C:CC	donor_gain	0.9900
5:54985414:CTG:C	donor_gain	0.9900
5:54979432:TGCT:T	acceptor_gain	0.9800
5:54979436:C:CC	acceptor_gain	0.9800
5:54985211:CTTTA:C	donor_loss	0.9800
5:54985212:TTTAC:T	donor_loss	0.9800
5:54985213:TTA:T	donor_loss	0.9800
5:54985214:TA:T	donor_loss	0.9800
5:54985215:A:AT	donor_loss	0.9800
5:54985216:CCTT:C	donor_loss	0.9800
5:54978828:C:T	acceptor_gain	0.9700
5:54982147:C:CC	acceptor_gain	0.9700
5:54985292:T:TA	donor_gain	0.9600
5:54985305:G:A	donor_gain	0.9500
5:54979437:T:A	acceptor_loss	0.9400
5:54981995:AC:A	donor_gain	0.9400
5:54981996:CC:C	donor_gain	0.9400
5:54985232:A:C	donor_gain	0.9400
5:54985233:CTCT:C	donor_gain	0.9400
5:54985234:TCTT:T	donor_gain	0.9400
5:54985235:CTTC:C	donor_gain	0.9400
5:54985267:TGA:T	donor_gain	0.9400
5:54978822:C:T	acceptor_gain	0.9300
5:54979352:T:TA	donor_gain	0.9300
5:54979438:G:C	acceptor_loss	0.9300

AlphaMissense

1216 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:54985222:C:G	C99S	0.999
5:54985223:A:T	C99S	0.999
5:54985288:C:G	C77S	0.999
5:54985289:A:T	C77S	0.999
5:54982083:C:G	C122S	0.998
5:54982084:A:T	C122S	0.998
5:54985221:G:C	C99W	0.998
5:54985270:C:G	C83S	0.998
5:54985271:A:T	C83S	0.998
5:54985222:C:T	C99Y	0.997
5:54985324:C:G	C65S	0.997
5:54985325:A:T	C65S	0.997
5:54985223:A:G	C99R	0.996
5:54985289:A:G	C77R	0.996
5:54985323:G:C	C65W	0.996
5:54982062:C:G	C129S	0.995
5:54982063:A:T	C129S	0.995
5:54982104:C:G	C115S	0.995
5:54982105:A:T	C115S	0.995
5:54982116:C:G	C111S	0.995
5:54982117:A:T	C111S	0.995
5:54985271:A:G	C83R	0.995
5:54985276:A:G	L81P	0.995
5:54985287:A:C	C77W	0.995
5:54985324:C:T	C65Y	0.995
5:54985325:A:G	C65R	0.995
5:54985366:C:G	C51S	0.995
5:54985367:A:T	C51S	0.995
5:54985372:T:A	D49V	0.995
5:54982083:C:T	C122Y	0.994

dbSNP variants (sampled 300 via entrez): RS1000254501 (5:54979692 A>C), RS1000743008 (5:54986195 T>A), RS1001377369 (5:54986485 C>G), RS1001581135 (5:54980375 T>C), RS1001665878 (5:54980984 T>C), RS1001835941 (5:54986743 T>C,G), RS1001925178 (5:54981679 A>G), RS1002268744 (5:54982665 C>G), RS1002273059 (5:54981412 C>T), RS1003102572 (5:54982319 T>C,G), RS1003157626 (5:54977624 T>C), RS1003193586 (5:54977996 T>A), RS1003679208 (5:54984163 A>C,T), RS1003701225 (5:54983881 C>T), RS1003989124 (5:54981390 A>G)

Disease associations

OMIM: gene MIM:601521 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003174_2	Sense of smell	8.000000e-06
GCST006088_30	Familial squamous cell lung carcinoma	1.000000e-07
GCST008399_7	Cocaine dependence	8.000000e-06
GCST012189_6	Systolic blood pressure and diastolic blood pressure (bivariate analysis)	7.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006953	family history of lung cancer
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression, affects cotreatment	2
Arsenic	affects expression, affects cotreatment, increases abundance, increases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
methylmercuric chloride	decreases expression	1
bisphenol A	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	increases abundance, increases expression	1
tobacco tar	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
1-nitropyrene	increases expression	1
diallyl trisulfide	increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
mono(2-ethyl-5-oxohexyl)phthalate	increases abundance, increases methylation	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
mirdametinib	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases methylation	1
NSC668394	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Microplastics	increases abundance, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ampicillin	decreases expression	1
Boron Compounds	increases expression	1
Cadmium	increases expression	1
Chloranil	increases expression	1
Cisplatin	decreases expression, decreases reaction	1

Cellosaurus cell lines

3 cell lines: 1 spontaneously immortalized cell line, 1 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XI04	CHO-K1-ESM	Spontaneously immortalized cell line	Female
CVCL_XI05	293-ESM	Transformed cell line	Female
CVCL_XI06	A549-ESM	Cancer cell line	Male

Clinical trials (associated diseases)

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