NPNT

Summary

NPNT (nephronectin, HGNC:27405) is a protein-coding gene on chromosome 4q24, encoding Nephronectin (Q6UXI9). Functional ligand of integrin alpha-8/beta-1 in kidney development.

Predicted to enable integrin binding activity. Predicted to be involved in several processes, including cell-cell adhesion mediated by integrin; positive regulation of ERK1 and ERK2 cascade; and positive regulation of alkaline phosphatase activity. Predicted to act upstream of or within positive regulation of transforming growth factor beta receptor signaling pathway. Located in collagen-containing extracellular matrix and extracellular exosome.

Source: NCBI Gene 255743 — RefSeq curated summary.

At a glance

• Gene–disease (curated): renal agenesis (Strong, GenCC)
• GWAS associations: 34
• Clinical variants (ClinVar): 124 total — 1 likely-pathogenic
• MANE Select transcript: NM_001033047

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27405
Approved symbol	NPNT
Name	nephronectin
Location	4q24
Locus type	gene with protein product
Status	Approved
Aliases	EGFL6L, POEM
Ensembl gene	ENSG00000168743
Ensembl biotype	protein_coding
OMIM	610306
Entrez	255743

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 17 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000305572, ENST00000379987, ENST00000427316, ENST00000453617, ENST00000503451, ENST00000504304, ENST00000504787, ENST00000505821, ENST00000505917, ENST00000506056, ENST00000506666, ENST00000511518, ENST00000513430, ENST00000514622, ENST00000514632, ENST00000514837, ENST00000876319, ENST00000876320, ENST00000876321, ENST00000876322, ENST00000876323, ENST00000963218

RefSeq mRNA: 5 — MANE Select: NM_001033047 NM_001033047, NM_001184690, NM_001184691, NM_001184692, NM_001184693

CCDS: CCDS34046, CCDS54784, CCDS54785, CCDS54786, CCDS54787

Canonical transcript exons

ENST00000379987 — 12 exons

Exon	Start	End
ENSE00001132557	105959028	105959126
ENSE00001132570	105942307	105942702
ENSE00001132573	105940514	105940636
ENSE00001132576	105940075	105940209
ENSE00001348039	105968895	105971671
ENSE00001483283	105958471	105958557
ENSE00002026960	105895471	105895723
ENSE00003500570	105897901	105898001
ENSE00003548527	105937009	105937128
ENSE00003592400	105927336	105927428
ENSE00003629120	105967188	105967444
ENSE00003640920	105938301	105938420

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 99.29.

FANTOM5 (CAGE): breadth broad, TPM avg 5.1015 / max 338.4461, expressed in 587 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49161	3.6915	525
49162	0.8997	326
49160	0.3953	162
49159	0.0525	22
49164	0.0350	16
49154	0.0275	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	99.29	gold quality
left lobe of thyroid gland	UBERON:0001120	99.27	gold quality
thyroid gland	UBERON:0002046	99.20	gold quality
right lung	UBERON:0002167	99.00	gold quality
jejunal mucosa	UBERON:0000399	98.91	gold quality
right coronary artery	UBERON:0001625	98.62	gold quality
descending thoracic aorta	UBERON:0002345	98.60	gold quality
ascending aorta	UBERON:0001496	98.50	gold quality
thoracic aorta	UBERON:0001515	98.50	gold quality
lower lobe of lung	UBERON:0008949	98.24	gold quality
aorta	UBERON:0000947	97.90	gold quality
upper lobe of lung	UBERON:0008948	97.88	gold quality
upper lobe of left lung	UBERON:0008952	97.85	gold quality
kidney epithelium	UBERON:0004819	97.54	gold quality
lung	UBERON:0002048	97.47	gold quality
popliteal artery	UBERON:0002250	97.45	gold quality
tibial artery	UBERON:0007610	97.44	gold quality
artery	UBERON:0001637	97.22	gold quality
ileal mucosa	UBERON:0000331	96.96	gold quality
saphenous vein	UBERON:0007318	96.72	gold quality
left coronary artery	UBERON:0001626	96.67	gold quality
coronary artery	UBERON:0001621	96.25	gold quality
adult mammalian kidney	UBERON:0000082	95.70	gold quality
mucosa of stomach	UBERON:0001199	95.28	gold quality
epithelial cell of pancreas	CL:0000083	95.23	silver quality
adenohypophysis	UBERON:0002196	94.67	gold quality
duodenum	UBERON:0002114	94.53	gold quality
prostate gland	UBERON:0002367	94.37	gold quality
gall bladder	UBERON:0002110	93.90	gold quality
oviduct epithelium	UBERON:0004804	93.54	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-81608	yes	435.91
E-CURD-119	yes	31.02
E-ANND-3	yes	22.30
E-HCAD-10	yes	21.72
E-HCAD-11	yes	11.11
E-GEOD-83139	yes	8.59
E-ENAD-27	yes	8.21
E-MTAB-6678	no	2.42

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FREM1, HNF4A, KLF2, KLF4, TCF7L2, TNF

Literature-anchored findings (GeneRIF, showing 13)

• MicroRNA miR-378 regulates nephronectin expression modulating osteoblast differentiation by targeting GalNT-7 (PMID:19844573)
• Nephronectin is associated with the development of diabetic glomerulosclerosis. (PMID:22172726)
• The expression of nephronectin was sufficient to discriminate DN from other kidney diseases with mesangial matrix expansion and nodular lesions. (PMID:23689482)
• Nephronectin (NPNT), a member of the epidermal growth factor (EGF) repeat superfamily proteins and a homologue of EGFL6, is expressed in osteoblasts. Intriguingly, the gene expression of NPNT is reduced in the bone of osteoporosis patients. (PMID:27782206)
• Biopsies from patients with focal segmental glomerulosclerosis and membranous nephropathy had increased miR-378a-3p expression and reduced glomerular levels of NPNT. (PMID:28476557)
• Serum Npnt was found to be higher in silicosis patients compared to healthy volunteers and seems to play a role in the progression of fibrosis with other cytokines. [review] (PMID:31130697)
• Nephronectin is a prognostic biomarker and promotes gastric cancer cell proliferation, migration and invasion. (PMID:32935851)
• A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans. (PMID:34049960)
• Glomerular Endothelial Cell-Derived microRNA-192 Regulates Nephronectin Expression in Idiopathic Membranous Glomerulonephritis. (PMID:34716242)
• A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis. (PMID:35246978)
• Integrated analysis identified NPNT as a potential key regulator in tumor metastasis of hepatocellular carcinoma. (PMID:35304239)
• Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract. (PMID:36292572)
• LncRNA ADAMTS9-AS1 inhibits the stemness of lung adenocarcinoma cells by regulating miR-5009-3p/NPNT axis. (PMID:36870548)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	npnta	ENSDARG00000018721
danio_rerio		ENSDARG00000100797
mus_musculus	Npnt	ENSMUSG00000040998
rattus_norvegicus	Npnt	ENSRNOG00000052873

Paralogs (1): EGFL6 (ENSG00000198759)

Protein

Protein identifiers

Nephronectin — Q6UXI9 (reviewed: Q6UXI9)

Alternative names: Preosteoblast EGF-like repeat protein with MAM domain, Protein EGFL6-like

All UniProt accessions (6): Q6UXI9, D6RE63, D6RH31, H0Y8M1, H0YA60, H0YAK9

UniProt curated annotations — full annotation on UniProt →

Function. Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins.

Subunit / interactions. Homodimer and homotrimer.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Expressed in kidney and lung and to a lower extent in brain, pregnant uterus, placenta, thyroid gland and blood vessels.

Domain organisation. The MAM domain is required for localization at the cell surface.

Similarity. Belongs to the nephronectin family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q6UXI9-1	1	yes
Q6UXI9-2	2
Q6UXI9-3	3
Q6UXI9-4	4
Q6UXI9-5	5
Q6UXI9-6	6

RefSeq proteins (5): NP_001028219, NP_001171619, NP_001171620, NP_001171621, NP_001171622 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR000998	MAM_dom	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR024731	NELL2-like_EGF	Domain
IPR049883	NOTCH1_EGF-like	Domain
IPR052235	Nephronectin_domain	Family

Pfam: PF00629, PF07645, PF12947

UniProt features (34 total): disulfide bond 12, domain 6, splice variant 4, sequence variant 4, compositionally biased region 2, sequence conflict 2, signal peptide 1, chain 1, region of interest 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXI9-F1	67.42	0.15

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 (12): 56–69, 60–75, 77–86, 93–104, 100–113, 115–127, 173–186, 180–195, 197–212, 218–231, 225–240, 242–253

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9830364	Formation of the nephric duct
R-HSA-9830674	Formation of the ureteric bud

MSigDB gene sets: 287 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, chr4q24, GOBP_RESPONSE_TO_PEPTIDE, GOBP_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, AREB6_03, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_OSTEOBLAST_DIFFERENTIATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, MEF2_02, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT

GO Biological Process (18): ureteric bud development (GO:0001657), branching involved in ureteric bud morphogenesis (GO:0001658), cell-matrix adhesion (GO:0007160), transforming growth factor beta receptor signaling pathway (GO:0007179), positive regulation of cell-substrate adhesion (GO:0010811), extracellular matrix organization (GO:0030198), positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511), cell-cell adhesion mediated by integrin (GO:0033631), establishment of protein localization (GO:0045184), positive regulation of osteoblast differentiation (GO:0045669), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of smooth muscle contraction (GO:0045987), smooth muscle cell differentiation (GO:0051145), positive regulation of ERK1 and ERK2 cascade (GO:0070374), cellular response to tumor necrosis factor (GO:0071356), pilomotor reflex (GO:0097195), cell adhesion (GO:0007155), cell differentiation (GO:0030154)

GO Molecular Function (3): integrin binding (GO:0005178), calcium ion binding (GO:0005509), extracellular matrix structural constituent (GO:0005201)

GO Cellular Component (6): extracellular region (GO:0005576), basement membrane (GO:0005604), membrane (GO:0016020), smooth muscle contractile fiber (GO:0030485), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Kidney development	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-substrate adhesion	2
extracellular matrix	2
cellular anatomical structure	2
mesonephric tubule development	1
branching morphogenesis of an epithelial tube	1
ureteric bud morphogenesis	1
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
regulation of cell-substrate adhesion	1
positive regulation of cell adhesion	1
extracellular structure organization	1
external encapsulating structure organization	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
positive regulation of cellular response to transforming growth factor beta stimulus	1
cell adhesion mediated by integrin	1
cell-cell adhesion	1
establishment of localization	1
osteoblast differentiation	1
positive regulation of cell differentiation	1
regulation of osteoblast differentiation	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
smooth muscle contraction	1
regulation of smooth muscle contraction	1
positive regulation of muscle contraction	1
muscle cell differentiation	1
positive regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
regulation of ERK1 and ERK2 cascade	1
response to tumor necrosis factor	1
cellular response to cytokine stimulus	1
reflex	1
cellular process	1
cellular developmental process	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1

Protein interactions and networks

STRING

720 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NPNT	ITGA8	P53708	995
NPNT	ITGB1	P05556	737
NPNT	GSTCD	Q8NEC7	667
NPNT	INTS12	Q96CB8	583
NPNT	FREM1	Q5H8C1	564
NPNT	FAM13A	O94988	495
NPNT	LAMB3	Q13751	492
NPNT	THSD4	Q6ZMP0	480
NPNT	SPP1	P10451	448
NPNT	HHIP	Q96QV1	445
NPNT	PID1	Q7Z2X4	435
NPNT	LOXL1	Q08397	434
NPNT	ARMCX4	Q5H9R4	427
NPNT	CYP2B6	P20813	423
NPNT	PPT2	Q9UMR5	418

IntAct

4 interactions, top by confidence:

A	B	Type	Score
NPNT	TAL1	psi-mi:“MI:0915”(physical association)	0.400
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
CRLF1	MANBA	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): NPNT (Affinity Capture-MS), NPNT (Positive Genetic), NPNT (Affinity Capture-MS), ITGA8 (Reconstituted Complex), NPNT (Affinity Capture-Western), NPNT (Affinity Capture-MS), TAL1 (Affinity Capture-MS), NPNT (Affinity Capture-MS), NPNT (Affinity Capture-MS), NPNT (Affinity Capture-MS), NPNT (Affinity Capture-MS)

ESM2 similar proteins: A0A060WQA3, A5PMY6, A8WGB1, B4HVU2, B4IXJ2, B4PD96, B4QMF4, D3YXF5, O18738, O35167, O35251, O35348, O43278, O43915, O75339, O89103, P06213, P10643, P13385, P21757, P21758, P51864, P51865, P97946, Q03637, Q05585, Q29243, Q3MI99, Q4LDE5, Q4ZJM7, Q58T08, Q5G872, Q5RAD0, Q5RBP1, Q62165, Q66K08, Q6NZL8, Q6UXH8, Q6UXI9, Q76LD0

Diamond homologs: A0A6I8RMG7, A2AJ76, B3EWY9, B5DFC9, O35568, O77469, O88322, P10493, P14543, P41413, P48960, P98095, Q04592, Q09165, Q14112, Q19267, Q2KIT5, Q2Q421, Q2Q426, Q4G063, Q4V7F2, Q4V7M2, Q5EA46, Q5RBP1, Q5XH36, Q60438, Q6UXH1, Q6UXI9, Q7SXF6, Q7ZXL5, Q86XX4, Q8BPB5, Q8K4G1, Q8R4U0, Q8R4Y4, Q91XD7, Q96HD1, Q96RW7, Q9CYA0, Q9JJS0

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
KLF2	“up-regulates quantity by expression”	NPNT	“transcriptional regulation”
KLF4	“up-regulates quantity by expression”	NPNT	“transcriptional regulation”
NPNT	up-regulates	Myoblast_fusion
FREM1	“up-regulates quantity by expression”	NPNT	“transcriptional regulation”
NPNT	“up-regulates activity”	“A8/b1 integrin”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	84
Likely benign	13
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3774323	NM_001033047.3(NPNT):c.439G>T (p.Gly147Ter)	Likely pathogenic

SpliceAI

2958 predictions. Top by Δscore:

Variant	Effect	Δscore
4:105901687:T:A	acceptor_gain	1.0000
4:105927331:CACAG:C	acceptor_loss	1.0000
4:105927332:ACAGC:A	acceptor_loss	1.0000
4:105927333:C:G	acceptor_gain	1.0000
4:105927333:CAGCT:C	acceptor_loss	1.0000
4:105927334:A:AG	acceptor_gain	1.0000
4:105927334:AGCT:A	acceptor_gain	1.0000
4:105927335:G:GA	acceptor_gain	1.0000
4:105927335:GC:G	acceptor_gain	1.0000
4:105927335:GCT:G	acceptor_gain	1.0000
4:105927335:GCTG:G	acceptor_gain	1.0000
4:105927335:GCTGT:G	acceptor_gain	1.0000
4:105927424:TCAAG:T	donor_loss	1.0000
4:105927425:CAAG:C	donor_loss	1.0000
4:105927426:AAG:A	donor_loss	1.0000
4:105927427:AGG:A	donor_loss	1.0000
4:105927429:G:GA	donor_loss	1.0000
4:105927430:T:A	donor_loss	1.0000
4:105936998:ATT:A	acceptor_gain	1.0000
4:105937003:TTTCA:T	acceptor_loss	1.0000
4:105937004:TTCA:T	acceptor_loss	1.0000
4:105937005:TCA:T	acceptor_loss	1.0000
4:105937006:CAGAT:C	acceptor_loss	1.0000
4:105937007:AG:A	acceptor_loss	1.0000
4:105937008:G:A	acceptor_loss	1.0000
4:105937128:AGTA:A	donor_loss	1.0000
4:105937129:G:GC	donor_loss	1.0000
4:105937129:G:GG	donor_gain	1.0000
4:105937130:T:A	donor_loss	1.0000
4:105940500:A:AG	acceptor_gain	1.0000

AlphaMissense

3679 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:105937020:T:A	C93S	0.997
4:105937020:T:C	C93R	0.997
4:105937021:G:C	C93S	0.997
4:105937053:T:A	C104S	0.997
4:105937054:G:C	C104S	0.997
4:105938414:T:C	C167R	0.997
4:105959104:G:C	W441C	0.997
4:105959104:G:T	W441C	0.997
4:105937041:T:C	C100R	0.996
4:105937042:G:A	C100Y	0.996
4:105937043:T:G	C100W	0.996
4:105937053:T:C	C104R	0.996
4:105937055:C:G	C104W	0.996
4:105938372:T:C	C153R	0.996
4:105938415:G:A	C167Y	0.996
4:105940086:T:A	C173S	0.996
4:105940087:G:C	C173S	0.996
4:105940125:T:A	C186S	0.996
4:105940126:G:C	C186S	0.996
4:105940203:T:A	C212S	0.996
4:105940203:T:C	C212R	0.996
4:105940204:G:C	C212S	0.996
4:105959102:T:A	W441R	0.996
4:105959102:T:C	W441R	0.996
4:105897973:G:C	W48C	0.995
4:105897973:G:T	W48C	0.995
4:105937041:T:A	C100S	0.995
4:105937042:G:C	C100S	0.995
4:105937080:T:C	C113R	0.995
4:105937088:T:G	C115W	0.995

dbSNP variants (sampled 300 via entrez): RS1000046554 (4:105928780 A>G), RS10000995 (4:105917861 T>C,G), RS10001493 (4:105897435 C>G,T), RS1000224290 (4:105943680 G>A), RS1000250247 (4:105965404 A>G), RS1000278080 (4:105943977 A>G), RS1000285553 (4:105899159 G>T), RS1000322861 (4:105965013 C>G), RS1000358489 (4:105904988 G>C,T), RS1000382561 (4:105923769 C>T), RS1000387215 (4:105958696 T>C), RS1000410928 (4:105905308 A>C), RS10004951 (4:105922891 C>T), RS1000513990 (4:105962618 G>A), RS1000528779 (4:105918833 G>T)

Disease associations

OMIM: gene MIM:610306 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
renal agenesis	Strong	Autosomal recessive

Mondo (2): bilateral renal agenesis (MONDO:0015986), renal agenesis (MONDO:0018470)

Orphanet (1): Renal agenesis, bilateral (Orphanet:1848)

HPO phenotypes

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

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST000542_6	Pulmonary function	5.000000e-17
GCST001784_49	Pulmonary function (smoking interaction)	1.000000e-16
GCST002938_37	Copper levels	7.000000e-06
GCST003262_843	Post bronchodilator FEV1	1.000000e-06
GCST003264_45	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST003542_180	Night sleep phenotypes	4.000000e-06
GCST004147_1	Chronic obstructive pulmonary disease	4.000000e-14
GCST004183_1	Lung function (FEV1)	2.000000e-21
GCST004184_14	Lung function (FVC)	8.000000e-09
GCST004185_36	Lung function (FEV1/FVC)	2.000000e-31
GCST004279_20	Systolic blood pressure	2.000000e-14
GCST004776_35	Systolic blood pressure	3.000000e-16
GCST004776_85	Systolic blood pressure	1.000000e-08
GCST006585_1723	Blood protein levels	2.000000e-10
GCST007094_85	Diastolic blood pressure	3.000000e-08
GCST007096_187	Pulse pressure	4.000000e-06
GCST007099_243	Systolic blood pressure	2.000000e-11
GCST007267_270	Systolic blood pressure	9.000000e-18
GCST007429_6	Lung function (FVC)	1.000000e-21
GCST007430_102	Peak expiratory flow	2.000000e-51
GCST007431_94	Lung function (FEV1/FVC)	4.000000e-134
GCST007432_131	FEV1	9.000000e-97
GCST007692_50	Chronic obstructive pulmonary disease	3.000000e-46
GCST007705_9	Pulse pressure	3.000000e-06
GCST007707_45	Hypertension	2.000000e-06
GCST007928_19	Medication use (diuretics)	8.000000e-10
GCST007929_96	Medication use (calcium channel blockers)	2.000000e-08
GCST007930_129	Medication use (agents acting on the renin-angiotensin system)	5.000000e-12
GCST008480_5	Lung function (FEV1)	6.000000e-15
GCST008481_5	Lung function (FEV1/FVC)	2.000000e-23

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0004312	vital capacity
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0009718	peak expiratory flow
EFO:0009928	Diuretic use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	7
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases expression, increases methylation	3
Estradiol	affects cotreatment, decreases expression	3
mercuric bromide	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ferrous chloride	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
CGP 52608	increases reaction, affects binding	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
incobotulinumtoxinA	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Azathioprine	decreases expression	1
Copper	affects binding, decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06728228	Not specified	RECRUITING	Amnioinfusion for Fetal Renal Failure