PLVAP

Summary

PLVAP (plasmalemma vesicle associated protein, HGNC:13635) is a protein-coding gene on chromosome 19p13.11, encoding Plasmalemma vesicle-associated protein (Q9BX97). Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae.

Predicted to enable identical protein binding activity. Involved in MAPK cascade; positive regulation of cellular extravasation; and tumor necrosis factor-mediated signaling pathway. Located in caveola and cell surface. Implicated in congenital diarrhea.

Source: NCBI Gene 83483 — RefSeq curated summary.

At a glance

• Gene–disease (curated): diarrhea 10, protein-losing enteropathy type (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 8
• Clinical variants (ClinVar): 274 total — 6 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 28
• MANE Select transcript: NM_031310

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13635
Approved symbol	PLVAP
Name	plasmalemma vesicle associated protein
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	gp68, PV-1, PV1, FELS
Ensembl gene	ENSG00000130300
Ensembl biotype	protein_coding
OMIM	607647
Entrez	83483

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000252590, ENST00000595816, ENST00000599426, ENST00000962151, ENST00000962152, ENST00000962153, ENST00000962154

RefSeq mRNA: 1 — MANE Select: NM_031310 NM_031310

CCDS: CCDS32952

Canonical transcript exons

ENST00000252590 — 6 exons

Exon	Start	End
ENSE00000951632	17366099	17366195
ENSE00000951633	17365286	17365998
ENSE00000951634	17360772	17360832
ENSE00000951638	17360528	17360609
ENSE00001049957	17351455	17352368
ENSE00002985596	17376920	17377342

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 99.38.

FANTOM5 (CAGE): breadth broad, TPM avg 5.2800 / max 406.7226, expressed in 352 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179861	5.2380	350
179860	0.0230	8
179858	0.0124	5
179859	0.0066	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left lobe of thyroid gland	UBERON:0001120	99.38	gold quality
right lobe of thyroid gland	UBERON:0001119	99.33	gold quality
thyroid gland	UBERON:0002046	98.71	gold quality
colonic epithelium	UBERON:0000397	98.56	gold quality
gall bladder	UBERON:0002110	98.51	gold quality
pericardium	UBERON:0002407	98.44	gold quality
omental fat pad	UBERON:0010414	98.36	gold quality
peritoneum	UBERON:0002358	98.30	gold quality
cardia of stomach	UBERON:0001162	98.27	gold quality
tendon of biceps brachii	UBERON:0008188	98.16	gold quality
metanephros cortex	UBERON:0010533	97.90	gold quality
subcutaneous adipose tissue	UBERON:0002190	97.80	gold quality
spleen	UBERON:0002106	97.66	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.60	gold quality
fundus of stomach	UBERON:0001160	97.04	gold quality
left coronary artery	UBERON:0001626	96.96	gold quality
body of stomach	UBERON:0001161	96.94	gold quality
pylorus	UBERON:0001166	96.94	gold quality
coronary artery	UBERON:0001621	96.89	gold quality
right coronary artery	UBERON:0001625	96.72	gold quality
mucosa of stomach	UBERON:0001199	96.55	gold quality
left uterine tube	UBERON:0001303	96.41	gold quality
ectocervix	UBERON:0012249	96.38	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.03	gold quality
lower esophagus	UBERON:0013473	95.96	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.94	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.81	gold quality
renal medulla	UBERON:0000362	95.76	gold quality
stomach	UBERON:0000945	95.64	gold quality
minor salivary gland	UBERON:0001830	95.46	gold quality

Single-cell (SCXA)

Detected in 28 experiment(s), a significant marker in 26.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	11109.93
E-HCAD-11	yes	4455.59
E-MTAB-8142	yes	3488.27
E-CURD-46	yes	2196.59
E-MTAB-9906	yes	1861.52
E-MTAB-8410	yes	1793.29
E-CURD-112	yes	1731.20
E-MTAB-8271	yes	1683.25
E-HCAD-10	yes	1588.74
E-HCAD-31	yes	1580.75
E-GEOD-124472	yes	1579.08
E-GEOD-135922	yes	1551.38
E-MTAB-6308	yes	1545.49
E-GEOD-114530	yes	1524.76
E-MTAB-7407	yes	1317.53

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MAP2K1, VIM

miRNA regulators (miRDB)

36 targeting PLVAP, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-3650	97.88	64.89	693
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-197-5P	97.23	68.10	596
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-1225-5P	96.76	66.85	417

Literature-anchored findings (GeneRIF, showing 17)

• PV1 is a key structural component, necessary for the biogenesis of the stomatal and fenestral diaphragms. (PMID:15155804)
• Plasmalemmal vesicle associated protein-1 has a role in brain tumor angiogenesis (PMID:16278383)
• PV-1 transcription was markedly induced in diabetic retina and by VEGF in retinal endothelial cells (PMID:19284967)
• leukocyte transendothelial migration is the first known function for PV-1 (PMID:19420356)
• Case Report: Suggest activated platelets, enhanced coagulation state, glomerular expression of PV-1 and endothelial damage may contribute to glomerulonephropathy associated with polycythemia vera. (PMID:20979949)
• These results suggest that PV1 protein is able to block SV40 infectivity at low but not at high viral concentration either by interfering with the infective internalization pathway at the cell surface or at a post internalization step. (PMID:21827737)
• Expression of plasmalemma vesicle-associated protein (PLVAP) is increased in endothelial cells in the presence of VEGF (PMID:22200486)
• The molecule recognized by PAL-E and anti-PV-1 antibodies is not NRP-1 but PV-1. (PMID:22627768)
• In Kimba and Akimba mice fluorescein leakage was associated with focal angiogenesis and correlated significantly with Plvap gene expression. (PMID:24703908)
• Plasmalemma vesicle-associated protein has a role in vascular permeability (PMID:26878208)
• A novel homozygous stop mutation (c.988C>T, p.Q330*) was discovered in PLVAP gene in a newborn with fatal protein-losing enteropathy (PLE), facial dysmorphism, and renal, ocular and cardiac anomalies. (PMID:29661969)
• PLVAP is essential in the retina during early development for proper retinal vascularization (PMID:30698992)
• Circulating PV-1 as a marker of celiac disease-associated liver injury. (PMID:33346700)
• Plasmalemma vesicle-associated protein promotes angiogenesis in cholangiocarcinoma via the DKK1/CKAP4/PI3K signaling pathway. (PMID:34079085)
• Plasmalemmal Vesicle-Associated Protein Is Associated with Endothelial Cells Sprouting from the Peribiliary Capillary Plexus in Human Cirrhotic Liver. (PMID:34280928)
• The role of PLVAP in endothelial cells. (PMID:36781482)
• PLVAP protein expression correlated with microbial composition, clinicopathological features, and prognosis of patients with stomach adenocarcinoma. (PMID:36884119)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	plvapb	ENSDARG00000045003
danio_rerio	plvapa	ENSDARG00000076972
mus_musculus	Plvap	ENSMUSG00000034845
rattus_norvegicus	Plvap	ENSRNOG00000017676

Protein

Protein identifiers

Plasmalemma vesicle-associated protein — Q9BX97 (reviewed: Q9BX97)

Alternative names: Fenestrated endothelial-linked structure protein, Plasmalemma vesicle protein 1

All UniProt accessions (3): Q9BX97, M0QXT5, M0R310

UniProt curated annotations — full annotation on UniProt →

Function. Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development.

Subunit / interactions. Homodimer.

Subcellular location. Cell membrane. Membrane. Caveola. Cytoplasm. Perinuclear region.

Tissue specificity. Expressed in lung, kidney, heart, aorta, placenta, muscle, pituitary gland, adrenals, mammary gland, bladder, lymph node, bone marrow, trachea, digestive tract, liver and tumor-associated endothelium.

Disease relevance. Diarrhea 10, protein-losing enteropathy type (DIAR10) [MIM:618183] An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Induction. By phorbol myristate acetate (PMA) or VEGF in endothelial cell culture.

RefSeq proteins (1): NP_112600* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009538	PV-1	Family

Pfam: PF06637

UniProt features (20 total): glycosylation site 4, sequence variant 3, sequence conflict 3, coiled-coil region 3, topological domain 2, region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BX97-F1	82.39	0.47

Functional residue map

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

Glycosylation sites (4): 83, 89, 113, 151

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 201 (showing top): GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_RESPONSE_TO_PEPTIDE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_EXTRAVASATION, GOCC_CELL_SURFACE, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_CELLULAR_EXTRAVASATION, GOBP_LEUKOCYTE_MIGRATION, MODULE_205, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_CELLULAR_EXTRAVASATION, GOBP_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, CAIRO_HEPATOBLASTOMA_UP, RGAGGAARY_PU1_Q6, ACEVEDO_LIVER_CANCER_UP, BOQUEST_STEM_CELL_DN

GO Biological Process (5): MAPK cascade (GO:0000165), positive regulation of cellular extravasation (GO:0002693), developmental process (GO:0032502), tumor necrosis factor-mediated signaling pathway (GO:0033209), regulation of vascular permeability (GO:0043114)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (7): caveola (GO:0005901), cell surface (GO:0009986), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular signaling cassette	1
positive regulation of leukocyte migration	1
regulation of cellular extravasation	1
cellular extravasation	1
biological_process	1
cytokine-mediated signaling pathway	1
cellular response to tumor necrosis factor	1
vascular process in circulatory system	1
blood circulation	1
regulation of biological quality	1
protein binding	1
binding	1
plasma membrane raft	1
cytoplasm	1
extracellular vesicle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLVAP	BST2	Q10589	747
PLVAP	ZSCAN1	Q8NBB4	712
PLVAP	MZF1	P28698	710
PLVAP	CLDN5	O00501	593
PLVAP	PDPN	Q86YL7	541
PLVAP	CAV1	Q03135	526
PLVAP	RXRA	P19793	491
PLVAP	ACKR1	Q16570	491
PLVAP	SELE	P16111	490
PLVAP	APLNR	P35414	467
PLVAP	CDH5	P33151	466
PLVAP	PECAM1	P16284	464
PLVAP	NDP	Q00604	452
PLVAP	PXDN	Q92626	419
PLVAP	LYVE1	Q9Y5Y7	419

IntAct

16 interactions, top by confidence:

A	B	Type	Score
	PLVAP	psi-mi:“MI:0915”(physical association)	0.560
PLVAP	SMPD2	psi-mi:“MI:0914”(association)	0.530
ASGR1	PTPN2	psi-mi:“MI:0914”(association)	0.530
	PLVAP	psi-mi:“MI:0915”(physical association)	0.000
PLVAP	purCD	psi-mi:“MI:0915”(physical association)	0.000
glmS	PLVAP	psi-mi:“MI:0915”(physical association)	0.000
PLVAP	rnb	psi-mi:“MI:0915”(physical association)	0.000
PLVAP	cheA	psi-mi:“MI:0915”(physical association)	0.000
PLVAP		psi-mi:“MI:0915”(physical association)	0.000
PLVAP	sctC	psi-mi:“MI:0915”(physical association)	0.000
lipB	PLVAP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (26): FUT8 (Affinity Capture-MS), SMPD2 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), LMAN2L (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), FLT4 (Affinity Capture-MS), PLVAP (Affinity Capture-MS), PLVAP (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), SMPD2 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), FUT8 (Affinity Capture-MS), LMAN2L (Affinity Capture-MS), CDSN (Two-hybrid), PLVAP (Proximity Label-MS)

ESM2 similar proteins: A2VE53, A5PJQ2, A5PMY6, A6H6E2, A6QP79, A8WGB1, F1QC17, O35550, O35551, O70340, O75071, O94901, P21757, P21758, P30204, P47970, P47971, P47972, P97738, P97927, Q05585, Q07065, Q15276, Q15818, Q16363, Q2LK54, Q3MI99, Q4V885, Q5EAJ6, Q5KU26, Q5RFW0, Q5RI56, Q62443, Q6AZY7, Q6P132, Q6P402, Q6ZMJ2, Q70UQ0, Q8BGQ6, Q8BMK4

Diamond homologs: Q91VC4, Q9BX97, Q9WV78

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	2
Uncertain significance	117
Likely benign	126
Benign	12

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
2089517	NM_031310.3(PLVAP):c.634C>T (p.Gln212Ter)	Pathogenic
2792836	NM_031310.3(PLVAP):c.847del (p.Val283fs)	Pathogenic
3662878	NM_031310.3(PLVAP):c.356dup (p.Cys119fs)	Pathogenic
590326	NM_031310.3(PLVAP):c.1072C>T (p.Arg358Ter)	Pathogenic
590327	NM_031310.3(PLVAP):c.988C>T (p.Gln330Ter)	Pathogenic
590328	NM_031310.3(PLVAP):c.101T>C (p.Leu34Pro)	Pathogenic
2501702	NM_031310.3(PLVAP):c.1086del (p.Lys363fs)	Likely pathogenic
2504164	NM_031310.3(PLVAP):c.670_676del (p.Leu224fs)	Likely pathogenic

SpliceAI

935 predictions. Top by Δscore:

Variant	Effect	Δscore
19:17360522:CCTTA:C	donor_loss	1.0000
19:17360523:CTTA:C	donor_loss	1.0000
19:17360524:TTA:T	donor_loss	1.0000
19:17360525:TACCT:T	donor_loss	1.0000
19:17360526:A:T	donor_loss	1.0000
19:17360527:C:CA	donor_loss	1.0000
19:17360605:TGGGT:T	acceptor_gain	1.0000
19:17360606:GGGT:G	acceptor_gain	1.0000
19:17360607:GGT:G	acceptor_gain	1.0000
19:17360608:GT:G	acceptor_gain	1.0000
19:17360610:C:CC	acceptor_gain	1.0000
19:17360610:CT:C	acceptor_loss	1.0000
19:17360611:T:G	acceptor_loss	1.0000
19:17360833:C:CC	acceptor_gain	1.0000
19:17365994:CAAGG:C	acceptor_gain	1.0000
19:17366201:C:CT	acceptor_gain	1.0000
19:17366201:C:T	acceptor_gain	1.0000
19:17366202:G:T	acceptor_gain	1.0000
19:17366207:A:AC	acceptor_gain	1.0000
19:17366207:A:C	acceptor_gain	1.0000
19:17376916:TTA:T	donor_loss	1.0000
19:17376918:A:AC	donor_gain	1.0000
19:17376918:AC:A	donor_gain	1.0000
19:17376918:ACCC:A	donor_loss	1.0000
19:17376919:C:CC	donor_gain	1.0000
19:17376919:C:CT	donor_loss	1.0000
19:17376919:CC:C	donor_gain	1.0000
19:17352369:C:CC	acceptor_gain	0.9900
19:17360526:A:AC	donor_gain	0.9900
19:17360527:C:CC	donor_gain	0.9900

AlphaMissense

2908 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:17377165:C:G	G42R	0.997
19:17377165:C:T	G42R	0.997
19:17377151:G:C	F46L	0.995
19:17377151:G:T	F46L	0.995
19:17377153:A:G	F46L	0.995
19:17377148:C:A	M47I	0.994
19:17377148:C:G	M47I	0.994
19:17377148:C:T	M47I	0.994
19:17376944:G:C	S115R	0.993
19:17376944:G:T	S115R	0.993
19:17376946:T:G	S115R	0.993
19:17377161:A:G	L43P	0.993
19:17377164:C:T	G42E	0.993
19:17377161:A:T	L43H	0.992
19:17377026:A:G	L88P	0.991
19:17377155:A:G	L45P	0.988
19:17377170:A:T	I40N	0.988
19:17377155:A:T	L45H	0.986
19:17377170:A:G	I40T	0.985
19:17377149:A:T	M47K	0.984
19:17377152:A:C	F46C	0.984
19:17377152:A:G	F46S	0.983
19:17377161:A:C	L43R	0.983
19:17377176:A:G	L38P	0.983
19:17377153:A:T	F46I	0.982
19:17377196:G:C	F31L	0.982
19:17377196:G:T	F31L	0.982
19:17377198:A:G	F31L	0.982
19:17360587:G:C	F421L	0.981
19:17360587:G:T	F421L	0.981

dbSNP variants (sampled 300 via entrez): RS1000053724 (19:17378309 A>G), RS1000245140 (19:17376849 A>T), RS1000264796 (19:17361564 C>A), RS1000406358 (19:17361628 C>A), RS1000554537 (19:17370660 T>C), RS1000748939 (19:17353516 C>A), RS1000832784 (19:17355332 G>A), RS1000950930 (19:17371547 T>C), RS1001262794 (19:17356140 C>A), RS1001472625 (19:17366563 A>C), RS1001535853 (19:17354362 G>A,T), RS1001711339 (19:17360819 A>G), RS1001922163 (19:17353124 T>C), RS1002039684 (19:17360701 A>G,T), RS1002048595 (19:17358962 G>C)

Disease associations

OMIM: gene MIM:607647 | disease phenotypes: MIM:618183

GenCC curated gene-disease

Disease	Classification	Inheritance
diarrhea 10, protein-losing enteropathy type	Strong	Autosomal recessive
congenital diarrhea 7 with exudative enteropathy	Supportive	Autosomal recessive

Mondo (2): diarrhea 10, protein-losing enteropathy type (MONDO:0032586), congenital diarrhea 7 with exudative enteropathy (MONDO:0014375)

Orphanet (0):

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000103	Polyuria
HP:0000110	Renal dysplasia
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000589	Coloboma
HP:0000821	Hypothyroidism
HP:0001522	Death in infancy
HP:0001541	Ascites
HP:0001561	Polyhydramnios
HP:0001698	Pericardial effusion
HP:0001942	Metabolic acidosis
HP:0002155	Hypertriglyceridemia
HP:0002202	Pleural effusion
HP:0002243	Protein-losing enteropathy
HP:0002573	Hematochezia
HP:0002788	Recurrent upper respiratory tract infections
HP:0002901	Hypocalcemia
HP:0002902	Hyponatremia
HP:0002917	Hypomagnesemia
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
HP:0003073	Hypoalbuminemia
HP:0003623	Neonatal onset
HP:0004313	Decreased circulating immunoglobulin concentration
HP:0005208	Secretory diarrhea
HP:0011968	Feeding difficulties
HP:0012050	Anasarca

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST007394_2	Mitochondrial DNA copy number	1.000000e-14
GCST90000025_559	Appendicular lean mass	1.000000e-12
GCST90002385_504	High light scatter reticulocyte count	7.000000e-12
GCST90002386_74	High light scatter reticulocyte percentage of red cells	6.000000e-12
GCST90002393_649	Monocyte count	7.000000e-11
GCST90002394_447	Monocyte percentage of white cells	3.000000e-09
GCST90002405_541	Reticulocyte count	1.000000e-10
GCST90002406_496	Reticulocyte fraction of red cells	1.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0006312	mitochondrial DNA measurement
EFO:0004980	appendicular lean mass
EFO:0007986	reticulocyte count
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenite	increases expression	1
tobacco tar	decreases expression	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
licochalcone B	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Malathion	decreases expression	1
Methapyrilene	increases methylation	1
Selenium	increases expression	1
Teratogens	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	decreases expression	1
Alendronate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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