NOSTRIN

Summary

NOSTRIN (nitric oxide synthase trafficking, HGNC:20203) is a protein-coding gene on chromosome 2q24.3, encoding Nostrin (Q8IVI9). Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane.

Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.

Source: NCBI Gene 115677 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_001039724

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20203
Approved symbol	NOSTRIN
Name	nitric oxide synthase trafficking
Location	2q24.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC20702
Ensembl gene	ENSG00000163072
Ensembl biotype	protein_coding
OMIM	607496
Entrez	115677

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 18 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000317647, ENST00000397206, ENST00000397209, ENST00000427068, ENST00000439509, ENST00000444448, ENST00000445023, ENST00000447264, ENST00000458381, ENST00000471833, ENST00000472260, ENST00000486873, ENST00000495202, ENST00000868937, ENST00000868938, ENST00000868939, ENST00000868940, ENST00000868941, ENST00000868942, ENST00000868943, ENST00000948119, ENST00000948120, ENST00000948121, ENST00000948122

RefSeq mRNA: 4 — MANE Select: NM_001039724 NM_001039724, NM_001171631, NM_001171632, NM_052946

CCDS: CCDS42771, CCDS42772, CCDS54415, CCDS54416

Canonical transcript exons

ENST00000317647 — 16 exons

Exon	Start	End
ENSE00001071328	168855352	168855460
ENSE00001071330	168842992	168843117
ENSE00001187453	168834227	168834325
ENSE00001187459	168831472	168831534
ENSE00001829457	168802637	168802673
ENSE00001833413	168864834	168865514
ENSE00003553962	168860795	168860909
ENSE00003566393	168851279	168851404
ENSE00003567428	168828158	168828220
ENSE00003584752	168824634	168824717
ENSE00003587023	168811567	168811652
ENSE00003601482	168861960	168862049
ENSE00003624468	168856690	168856778
ENSE00003680194	168859512	168859637
ENSE00003683795	168828420	168828501
ENSE00003784633	168851084	168851182

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.93.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4100 / max 162.8225, expressed in 446 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23518	1.5926	303
23517	0.8173	342

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lung	UBERON:0002167	97.93	gold quality
adrenal tissue	UBERON:0018303	97.90	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.31	gold quality
adipose tissue	UBERON:0001013	94.97	gold quality
upper lobe of left lung	UBERON:0008952	94.95	gold quality
omental fat pad	UBERON:0010414	94.60	gold quality
thoracic mammary gland	UBERON:0005200	94.58	gold quality
lung	UBERON:0002048	94.53	gold quality
rectum	UBERON:0001052	94.17	gold quality
body of pancreas	UBERON:0001150	94.04	gold quality
calcaneal tendon	UBERON:0003701	93.83	gold quality
endometrium	UBERON:0001295	93.57	gold quality
endocervix	UBERON:0000458	93.49	gold quality
placenta	UBERON:0001987	92.88	gold quality
colonic epithelium	UBERON:0000397	92.85	gold quality
myometrium	UBERON:0001296	92.82	gold quality
body of uterus	UBERON:0009853	92.61	gold quality
gall bladder	UBERON:0002110	92.33	gold quality
mucosa of transverse colon	UBERON:0004991	92.09	gold quality
left uterine tube	UBERON:0001303	92.08	gold quality
saliva-secreting gland	UBERON:0001044	92.07	gold quality
metanephros cortex	UBERON:0010533	91.98	gold quality
duodenum	UBERON:0002114	91.85	gold quality
fundus of stomach	UBERON:0001160	91.82	gold quality
minor salivary gland	UBERON:0001830	91.57	gold quality
body of stomach	UBERON:0001161	91.47	gold quality
right adrenal gland cortex	UBERON:0035827	91.36	gold quality
stomach	UBERON:0000945	91.02	gold quality
right atrium auricular region	UBERON:0006631	90.97	gold quality
ectocervix	UBERON:0012249	90.86	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	31.01
E-MTAB-6678	no	2.42
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT3

miRNA regulators (miRDB)

8 targeting NOSTRIN, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-301A-5P	96.88	68.07	931
HSA-MIR-301B-5P	96.88	67.75	946
HSA-MIR-3059-3P	96.71	67.08	606
HSA-MIR-3914	94.91	65.77	643

Literature-anchored findings (GeneRIF, showing 12)

• NOSTRIN modulates nitric oxide release and subcellular distribution of endothelial nitric oxide synthase. (PMID:12446846)
• NOSTRIN may facilitate endocytosis of endothelial nitric oxide synthase by coordinating the function of dynamin and the actin nucleation promoting factor N-WASP. (PMID:16234328)
• A ternary complex between NOSTRIN, caveolin-1, and eNOS mediates translocation of eNOS, with important implications for the activity and availability of eNOS in the cell. (PMID:16807357)
• results suggest that nuclear NOSTRINbeta may negatively regulate transcription of the NOSTRIN gene (PMID:18980613)
• NOSTRIN expression was increased in umbilical vessel of women with pre-eclampsia. (PMID:19399414)
• Results reveal an elegant mechanism of eNOS regulation by PECAM-1 through signal transducers and activators of transcription 3-mediated transcriptional control of NOSTRIN. (PMID:21183735)
• The expression of NOSTRIN is decreased, while the activity of eNOS and the level of NO2-/NO3- increased in the testis tissue of azoospermia patients. (PMID:21351530)
• This study showed that overexpression of NOSTRIN had a significant effect on eNOS activity in HUVECs and resulted in significant cellular damage. (PMID:23592143)
• no significant difference in serum level associated with preeclampsia or intrauterine growth restriction (PMID:24588201)
• NOSTRIN inhibited production of nitric oxide (NO) by suppressing the activation of endothelial nitric oxide synthase (eNOS). (PMID:27401251)
• The suggest that scores obtained with the worst nostril are the most efficient in detecting an olfactory disorder. (PMID:28981819)
• Nitric-Oxide Synthase trafficking inducer (NOSTRIN) is an emerging negative regulator of colon cancer progression. (PMID:35642021)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nostrin	ENSDARG00000077866
mus_musculus	Nostrin	ENSMUSG00000034738
rattus_norvegicus	Nostrin	ENSRNOG00000006611
caenorhabditis_elegans		WBGENE00007983

Paralogs (3): SH3KBP1 (ENSG00000147010), CD2AP (ENSG00000198087), SH3D21 (ENSG00000214193)

Protein

Protein identifiers

Nostrin — Q8IVI9 (reviewed: Q8IVI9)

Alternative names: BM247 homolog, Nitric oxide synthase traffic inducer, Nitric oxide synthase trafficker, eNOS-trafficking inducer

All UniProt accessions (4): E9PDM0, Q8IVI9, F8WCW8, H7BZA6

UniProt curated annotations — full annotation on UniProt →

Function. Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane.

Subunit / interactions. Homotrimer. Interacts with DAB2. Interacts with NOS3, DNM2, WASL and CAV1. Interacts (via SH3 domain) with DNM2; this interaction allows the recruitment of NOS3 to dynamin-positive structures.

Subcellular location. Cell membrane. Cytoplasmic vesicle. Cytoplasm. Cytoskeleton Nucleus.

Tissue specificity. Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level).

Domain organisation. The SH3 domain mediates interaction with NOS3, DNM2 and WASL. The F-BAR domain is necessary for membrane targeting.

Miscellaneous. May negatively regulate transcription of the NOSTRIN gene.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8IVI9-1	1, NOSTRINalpha	yes
Q8IVI9-2	2
Q8IVI9-3	3, NOSTRINbeta
Q8IVI9-4	4

RefSeq proteins (4): NP_001034813, NP_001165102, NP_001165103, NP_443178 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001060	FCH_dom	Domain
IPR001452	SH3_domain	Domain
IPR011072	HR1_rho-bd	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR031160	F_BAR_dom	Domain
IPR035656	Nostrin_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036274	HR1_rpt_sf	Homologous_superfamily
IPR057870	HR1_TOCA	Domain

Pfam: PF00611, PF14604, PF25610

UniProt features (19 total): strand 6, domain 3, splice variant 3, sequence conflict 2, modified residue 2, chain 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2YUN	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVI9-F1	87.36	0.62

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 (2): 114, 479

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-203641	NOSTRIN mediated eNOS trafficking

MSigDB gene sets: 105 (showing top): BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, NF1_Q6_01, chr2q24, HFH8_01, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, RYTTCCTG_ETS2_B, ELK1_01, CUI_TCF21_TARGETS_2_DN, RGAGGAARY_PU1_Q6, GOBP_IMPORT_INTO_CELL, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, GOBP_ENDOCYTOSIS, GOCC_ENDOCYTIC_VESICLE

GO Biological Process (3): endocytosis (GO:0006897), signal transduction (GO:0007165), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), endocytic vesicle membrane (GO:0030666), cytoplasm (GO:0005737), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), organelle (GO:0043226)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of nitric oxide: NOS3 activation and regulation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
endocytic vesicle	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

1452 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NOSTRIN	CAV1	Q03135	740
NOSTRIN	NOSIP	Q9Y314	675
NOSTRIN	NOS3	P29474	665
NOSTRIN	DNM2	P50570	609
NOSTRIN	WAS	P42768	472
NOSTRIN	TRIP10	Q15642	459
NOSTRIN	ADGRD2	Q7Z7M1	426
NOSTRIN	FCHSD1	Q86WN1	413
NOSTRIN	COL19A1	Q14993	407
NOSTRIN	NUBPL	Q8TB37	406
NOSTRIN	PACSIN2	Q9UNF0	396
NOSTRIN	FCHO2	Q0JRZ9	393
NOSTRIN	FCHO1	O14526	393
NOSTRIN	FNBP1L	Q5T0N5	386
NOSTRIN	FNBP1	Q96RU3	385

IntAct

163 interactions, top by confidence:

A	B	Type	Score
NOS3	NOSTRIN	psi-mi:“MI:0915”(physical association)	0.730
NOSTRIN	NOS3	psi-mi:“MI:0915”(physical association)	0.730
NOSTRIN	NOS3	psi-mi:“MI:0403”(colocalization)	0.730
FGFR1	NOSTRIN	psi-mi:“MI:0407”(direct interaction)	0.630
NOSTRIN	FGFR1	psi-mi:“MI:0915”(physical association)	0.630
FGFR1	NOSTRIN	psi-mi:“MI:0915”(physical association)	0.630
DNM1	NOSTRIN	psi-mi:“MI:0915”(physical association)	0.520
NOSTRIN	Wasl	psi-mi:“MI:0915”(physical association)	0.520
Wasl	NOSTRIN	psi-mi:“MI:0915”(physical association)	0.520
DLG3	NOSTRIN	psi-mi:“MI:0407”(direct interaction)	0.440
NOSTRIN	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	NOSTRIN	psi-mi:“MI:0407”(direct interaction)	0.440
NOSTRIN	LIN7C	psi-mi:“MI:0407”(direct interaction)	0.440
NOSTRIN	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
NOSTRIN	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
NOSTRIN	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
NOSTRIN	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
NOSTRIN	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
NOSTRIN	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (18): NOSTRIN (Affinity Capture-MS), NOSTRIN (Synthetic Lethality), NOSTRIN (Affinity Capture-MS), MAGEA6 (Two-hybrid), NOSTRIN (Two-hybrid), NOS3 (Two-hybrid), NOSTRIN (Affinity Capture-Western), NOS3 (Affinity Capture-Western), NOS3 (Reconstituted Complex), NOS3 (Co-localization), NOSTRIN (Two-hybrid), NOSTRIN (Affinity Capture-MS), NOSTRIN (Affinity Capture-MS), NOSTRIN (Cross-Linking-MS (XL-MS)), CRABP1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B7YDZ4, B1H267, B3STP6, O14243, O43150, O97902, P34445, P40531, P47057, P91124, Q09746, Q10253, Q1AAU6, Q2KJA1, Q2KJB5, Q2T9M1, Q3ZBM5, Q4R7Q5, Q54XE8, Q5PPZ5, Q5R613, Q5REH1, Q62083, Q62419, Q68FW8, Q6CTQ0, Q6FPT9, Q6NRL2, Q6P8X1, Q75C43, Q7SIG6, Q7XPJ0, Q80ZJ7, Q86XE0, Q8IVI9, Q99961, Q9C6C3, Q9D8U8, Q9EP80, Q9FG38

Diamond homologs: A1X283, A1ZAY1, A2AAY5, A4RE77, A6NI72, A6SED8, A7EK16, A8MVU1, A8N2Y6, A8PWF6, B0CRJ3, F1M707, O00443, O43586, O77774, O89032, P0CP00, P0CP01, P10569, P14598, P29366, P62484, P97814, Q09014, Q1LYG0, Q2HDI2, Q2KJB5, Q54FG5, Q5I0D6, Q5RAY1, Q5TCX8, Q5TCZ1, Q61194, Q6WKZ7, Q7Z8J6, Q8IVI9, Q8VDG6, Q9NYB9, Q9QX73, Q9Y7Z8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	40.2×	1e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	38.3×	1e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	38.3×	1e-05
Long-term potentiation	5	33.5×	2e-05
Assembly and cell surface presentation of NMDA receptors	9	32.2×	1e-09
Neurexins and neuroligins	10	27.7×	8e-10
Protein-protein interactions at synapses	6	22.4×	2e-05
NRAGE signals death through JNK	5	13.0×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	66.6×	3e-15
protein localization to synapse	6	47.9×	4e-07
receptor clustering	7	45.5×	5e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	36.1×	2e-07
establishment or maintenance of cell polarity	5	20.9×	3e-04
establishment of cell polarity	5	19.9×	3e-04
bicellular tight junction assembly	5	17.2×	6e-04
protein-containing complex assembly	10	11.9×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2432 predictions. Top by Δscore:

Variant	Effect	Δscore
2:168802670:TCCGG:T	donor_loss	1.0000
2:168802671:CCGGT:C	donor_loss	1.0000
2:168802672:CGGTG:C	donor_loss	1.0000
2:168824715:AAGG:A	donor_loss	1.0000
2:168824716:AGG:A	donor_loss	1.0000
2:168824718:G:T	donor_loss	1.0000
2:168824719:T:G	donor_loss	1.0000
2:168828406:T:G	acceptor_gain	1.0000
2:168828412:A:AG	acceptor_gain	1.0000
2:168828413:T:G	acceptor_gain	1.0000
2:168828415:TCCA:T	acceptor_loss	1.0000
2:168828416:CCAG:C	acceptor_loss	1.0000
2:168828417:CAG:C	acceptor_loss	1.0000
2:168828418:A:AG	acceptor_gain	1.0000
2:168828418:A:G	acceptor_loss	1.0000
2:168828419:G:A	acceptor_loss	1.0000
2:168828419:G:GG	acceptor_gain	1.0000
2:168828419:GA:G	acceptor_gain	1.0000
2:168828419:GAA:G	acceptor_gain	1.0000
2:168828419:GAAA:G	acceptor_gain	1.0000
2:168828419:GAAAA:G	acceptor_gain	1.0000
2:168828497:AATCA:A	donor_gain	1.0000
2:168828498:ATCA:A	donor_gain	1.0000
2:168828499:TCA:T	donor_gain	1.0000
2:168828500:CA:C	donor_gain	1.0000
2:168828500:CAG:C	donor_loss	1.0000
2:168828501:AGT:A	donor_loss	1.0000
2:168828502:G:GG	donor_gain	1.0000
2:168828502:GT:G	donor_loss	1.0000
2:168828503:T:A	donor_loss	1.0000

AlphaMissense

3365 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:168864909:T:C	F487S	0.996
2:168824634:G:C	R38S	0.995
2:168824634:G:T	R38S	0.995
2:168862010:T:C	F449L	0.994
2:168862012:T:A	F449L	0.994
2:168862012:T:G	F449L	0.994
2:168824642:T:C	L41P	0.993
2:168824666:T:C	L49P	0.993
2:168828174:T:A	W72R	0.993
2:168828174:T:C	W72R	0.993
2:168828207:G:C	A83P	0.993
2:168862035:T:C	L457S	0.993
2:168824635:G:C	A39P	0.992
2:168828216:C:G	H86D	0.991
2:168864882:G:A	G478E	0.991
2:168824656:G:C	A46P	0.990
2:168828428:G:A	G90D	0.989
2:168859531:T:C	L358P	0.989
2:168859539:G:C	A361P	0.987
2:168864908:T:C	F487L	0.987
2:168864910:T:A	F487L	0.987
2:168864910:T:G	F487L	0.987
2:168811652:G:C	R38T	0.986
2:168859553:A:C	K365N	0.986
2:168859553:A:T	K365N	0.986
2:168864909:T:G	F487C	0.986
2:168824657:C:A	A46D	0.984
2:168824645:A:T	E42V	0.983
2:168859555:T:C	L366P	0.982
2:168862041:T:C	L459S	0.982

dbSNP variants (sampled 300 via entrez): RS1000066338 (2:168848333 T>TG), RS1000132992 (2:168835365 C>A), RS1000209452 (2:168857767 G>A), RS1000221580 (2:168788564 A>G), RS1000258116 (2:168829152 A>G), RS1000273804 (2:168788874 TACAC>T,TAC,TACACAC), RS1000296896 (2:168841758 A>T), RS1000309163 (2:168810100 A>C,G,T), RS1000316082 (2:168823226 C>G,T), RS1000319926 (2:168851747 G>A), RS1000327229 (2:168823040 G>A,T), RS1000343994 (2:168799463 T>G), RS1000373171 (2:168836668 A>G), RS1000464482 (2:168797257 T>A,C,G), RS1000478804 (2:168816852 T>C)

Disease associations

OMIM: gene MIM:607496 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST002616_21	Mitochondrial DNA levels	8.000000e-06
GCST004610_48	White blood cell count	5.000000e-16
GCST004613_82	Sum neutrophil eosinophil counts	1.000000e-14
GCST004614_132	Granulocyte count	6.000000e-15
GCST004620_47	Sum basophil neutrophil counts	1.000000e-14
GCST004625_54	Monocyte count	8.000000e-14
GCST004626_20	Myeloid white cell count	1.000000e-16
GCST004629_25	Neutrophil count	5.000000e-14
GCST008163_593	Height	3.000000e-06
GCST010698_85	Subcortical volume (min-P)	4.000000e-19
GCST010699_3	Brain morphology (min-P)	4.000000e-11
GCST010700_55	Cortical thickness (MOSTest)	7.000000e-120
GCST010701_34	Cortical surface area (MOSTest)	1.000000e-26
GCST010702_11	Subcortical volume (MOSTest)	4.000000e-08
GCST010703_69	Brain morphology (MOSTest)	2.000000e-08
GCST90000025_823	Appendicular lean mass	3.000000e-24
GCST90002381_52	Eosinophil count	4.000000e-09
GCST90002393_386	Monocyte count	7.000000e-21
GCST90002398_107	Neutrophil count	2.000000e-23
GCST90002407_75	White blood cell count	3.000000e-26
GCST90011899_74	Aspartate aminotransferase levels	5.000000e-18
GCST90020028_100	Hip circumference adjusted for BMI	3.000000e-09

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0006312	mitochondrial DNA measurement
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0005091	monocyte count
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004980	appendicular lean mass
EFO:0004736	aspartate aminotransferase measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects splicing, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	2
Nickel	decreases expression	2
methyleugenol	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity, increases expression	1
polyhexamethyleneguanidine	affects expression	1
cylindrospermopsin	increases expression	1
CGP 52608	increases reaction, affects binding	1
entinostat	increases expression	1
quinocetone	increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases expression	1
Arsenic	affects methylation	1
Endosulfan	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Gallic Acid	increases expression	1
Hydrogen Peroxide	affects expression	1
Niclosamide	decreases expression	1
Silicon Dioxide	decreases expression	1
Testosterone	decreases expression	1
Urethane	decreases expression	1
Vitamin K 3	affects expression	1

Clinical trials (associated diseases)

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