STON2

Summary

STON2 (stonin 2, HGNC:30652) is a protein-coding gene on chromosome 14q31.1, encoding Stonin-2 (Q8WXE9). Adapter protein involved in endocytic machinery.

This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 85439 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 146 total — 1 likely-pathogenic
• MANE Select transcript: NM_001394390

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30652
Approved symbol	STON2
Name	stonin 2
Location	14q31.1
Locus type	gene with protein product
Status	Approved
Aliases	STNB2, STN2
Ensembl gene	ENSG00000140022
Ensembl biotype	protein_coding
OMIM	608467
Entrez	85439

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000553821, ENST00000554710, ENST00000555226, ENST00000555284, ENST00000555447, ENST00000556280, ENST00000614646, ENST00000649389, ENST00000652748, ENST00000864005, ENST00000864006

RefSeq mRNA: 4 — MANE Select: NM_001394390 NM_001256430, NM_001366849, NM_001366850, NM_001394390

CCDS: CCDS58332, CCDS91914, CCDS91915

Canonical transcript exons

ENST00000614646 — 8 exons

Exon	Start	End
ENSE00000941079	81370988	81371185
ENSE00001092926	81276901	81278739
ENSE00001135482	81395894	81396178
ENSE00002307945	81270670	81270872
ENSE00002437825	81260652	81268497
ENSE00003654834	81398295	81398580
ENSE00003837908	81324017	81324187
ENSE00003937490	81400279	81400324

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 93.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5779 / max 683.7570, expressed in 1024 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144328	5.3008	883
144313	4.9195	591
144323	0.7609	120
144324	0.2669	76
144326	0.1943	54
144325	0.0602	17
144327	0.0474	32
144322	0.0279	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	93.50	gold quality
globus pallidus	UBERON:0001875	92.74	gold quality
kidney epithelium	UBERON:0004819	92.64	gold quality
lateral globus pallidus	UBERON:0002476	92.54	gold quality
gingiva	UBERON:0001828	92.30	gold quality
gingival epithelium	UBERON:0001949	92.22	gold quality
corpus callosum	UBERON:0002336	91.73	gold quality
tibialis anterior	UBERON:0001385	90.93	silver quality
caudate nucleus	UBERON:0001873	90.29	gold quality
amygdala	UBERON:0001876	90.17	gold quality
nucleus accumbens	UBERON:0001882	89.21	gold quality
ventricular zone	UBERON:0003053	89.02	gold quality
putamen	UBERON:0001874	88.08	gold quality
temporal lobe	UBERON:0001871	87.74	gold quality
oviduct epithelium	UBERON:0004804	87.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.29	gold quality
deltoid	UBERON:0001476	86.90	silver quality
skin of hip	UBERON:0001554	86.75	gold quality
superior vestibular nucleus	UBERON:0007227	86.43	gold quality
entorhinal cortex	UBERON:0002728	85.74	gold quality
esophagus squamous epithelium	UBERON:0006920	85.68	gold quality
Ammon’s horn	UBERON:0001954	85.59	gold quality
oral cavity	UBERON:0000167	85.38	gold quality
substantia nigra pars reticulata	UBERON:0001966	85.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.00	gold quality
substantia nigra pars compacta	UBERON:0001965	84.65	gold quality
sural nerve	UBERON:0015488	84.21	gold quality
tibia	UBERON:0000979	84.15	gold quality
hypothalamus	UBERON:0001898	84.07	gold quality
substantia nigra	UBERON:0002038	83.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	64.70
E-HCAD-10	yes	17.91
E-ANND-3	yes	12.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

371 targeting STON2, 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-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-188-3P	100.00	68.76	1240
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-126-5P	100.00	72.71	3180
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684

Literature-anchored findings (GeneRIF, showing 10)

• The ability of stonin 2 to facilitate endocytosis of synaptotagmin is dependent on its association with AP-2, an intact mu-homology domain, and functional AP-2 heterotetramers. (PMID:16459302)
• Our data identify the molecular determinants for recognition of synaptotagmin by stonin 2 or its Caenorhabditis elegans orthologue UNC-41B. (PMID:18166656)
• STON2 may be a susceptibility gene for Chinese Han patients with schizophrenia. (PMID:21407139)
• The present study demonstrated that the functional variant of the STON2 gene could alter cortical surface area on the right inferior temporal and contribute to the pathogenesis of schizophrenia. (PMID:23785397)
• STON2 plays an important role in the progression and prognosis of ovarian carcinoma, especially in platinum resistance, intraperitoneal metastasis, and recurrence. STON2 can be a novel antitumor drug target and biomarker which predicts an unfavorable prognosis for EOC patients. (PMID:28758939)
• this study revealed that miR-199b-5p functions as antioncogene miRNA in papillary thyroid carcinoma cells and that the miR-199b-5p/STON2 axis might be a potential treatment option for papillary thyroid carcinoma (PMID:30325582)
• The functional significance of this STON2-DNMT1/MUC1 pathway is supported by the observation that STON2 overexpression suppresses MUC1-induced sphere formation of OCSCs. (PMID:30518424)
• Narrowing down the Common Cytogenetic Deletion 14q to a 5.6-Mb Critical Region in 1p/19q Codeletion Oligodendroglioma-Relapsed Patients Points to Two Potential Relapse-Related Genes: SEL1L and STON2. (PMID:32575107)
• Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson. (PMID:32737415)
• Stonin 2 activates lysosomal-mTOR axis for cell survival in oral cancer. (PMID:36702439)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ston2	ENSDARG00000057452
mus_musculus	Ston2	ENSMUSG00000020961
rattus_norvegicus	Ston2	ENSRNOG00000004458
drosophila_melanogaster	stnB	FBGN0016975
caenorhabditis_elegans		WBGENE00006777

Paralogs (7): AP3M2 (ENSG00000070718), AP1M1 (ENSG00000072958), AP1M2 (ENSG00000129354), AP2M1 (ENSG00000161203), AP3M1 (ENSG00000185009), AP4M1 (ENSG00000221838), STON1 (ENSG00000243244)

Protein

Protein identifiers

Stonin-2 — Q8WXE9 (reviewed: Q8WXE9)

Alternative names: Stoned B

All UniProt accessions (3): Q8WXE9, A0A3B3IU55, H0YJ05

UniProt curated annotations — full annotation on UniProt →

Function. Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating.

Subunit / interactions. Interacts with the second C2 domain of synaptotagmins SYT1 and SYT2. Interacts with EPS15, EPS15R and ITSN1. Interacts indirectly with the AP-2 adapter complex. Interacts with TOR1A and COPS4; the interaction controls STON2 protein stability.

Subcellular location. Cytoplasm. Membrane. Synapse. Synaptosome.

Tissue specificity. Ubiquitous.

Post-translational modifications. Phosphorylated in vitro by PKD. Neddylated; deneddylated via its interaction with the COP9 signalosome (CSN) complex through TOR1A and COPS4. Ubiquitinated; leading to its degradation.

Domain organisation. The Asn-Pro-Phe (NPF) motifs, which are found in proteins involved in the endocytic pathway, mediate the interaction with the EH domain of SYT1, SYT2, EPS15, EPS15R and ITSN1.

Similarity. Belongs to the Stoned B family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WXE9-1	1	yes
Q8WXE9-3	2

RefSeq proteins (4): NP_001243359, NP_001353778, NP_001353779, NP_001381319* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012320	SHD_dom	Domain
IPR017110	Stonin	Family
IPR022699	Stonin2_N	Domain
IPR028565	MHD	Domain
IPR031228	STON2_MHD	Domain
IPR036168	AP2_Mu_C_sf	Homologous_superfamily
IPR050431	Adaptor_comp_med_subunit	Family

Pfam: PF00928, PF12016

UniProt features (30 total): compositionally biased region 5, modified residue 5, sequence variant 4, region of interest 3, domain 2, mutagenesis site 2, sequence conflict 2, short sequence motif 2, chain 1, splice variant 1, strand 1, turn 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2JXC	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXE9-F1	62.31	0.29

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 (5): 255, 281, 287, 302, 762

Mutagenesis-validated functional residues (2):

Position	Phenotype
738	reduces interaction with syt1.
740	reduces interaction with syt1.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 220 (showing top): GOZGIT_ESR1_TARGETS_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_SYNAPTIC_VESICLE_RECYCLING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, NFKB_Q6, MODULE_331, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, NF1_Q6_01, TGCTGAY_UNKNOWN, GATA6_01, GOCC_COATED_VESICLE, GOCC_GOLGI_ASSOCIATED_VESICLE, GOCC_VESICLE_COAT, GOBP_REGULATION_OF_ENDOCYTOSIS

GO Biological Process (5): regulation of endocytosis (GO:0030100), synaptic vesicle endocytosis (GO:0048488), clathrin-dependent endocytosis (GO:0072583), hematopoietic progenitor cell differentiation (GO:0002244), endocytosis (GO:0006897)

GO Molecular Function (2): clathrin-cargo adaptor activity (GO:0035615), protein binding (GO:0005515)

GO Cellular Component (10): nucleolus (GO:0005730), cytosol (GO:0005829), synaptic vesicle (GO:0008021), AP-2 adaptor complex (GO:0030122), neuron projection (GO:0043005), cytoplasm (GO:0005737), membrane (GO:0016020), clathrin-coated vesicle (GO:0030136), synapse (GO:0045202), presynapse (GO:0098793)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Clathrin-mediated endocytosis	1
Membrane Trafficking	1
Vesicle-mediated transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
endocytosis	1
regulation of cellular component organization	1
regulation of vesicle-mediated transport	1
synaptic vesicle recycling	1
presynaptic endocytosis	1
receptor-mediated endocytosis	1
hemopoiesis	1
cell differentiation	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
clathrin binding	1
cargo adaptor activity	1
binding	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
exocytic vesicle	1
presynapse	1
clathrin coat of endocytic vesicle	1
clathrin adaptor complex	1
clathrin coat of coated pit	1
plasma membrane protein complex	1
plasma membrane bounded cell projection	1
intracellular anatomical structure	1
coated vesicle	1
cell junction	1
synapse	1

Protein interactions and networks

STRING

822 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STON2	EPS15	P42566	994
STON2	ITSN1	Q15811	978
STON2	EPS15L1	Q9UBC2	928
STON2	SYT1	P21579	911
STON2	SYT2	Q8N9I0	860
STON2	ITSN2	Q9NZM3	843
STON2	GTF2A1	P52655	817
STON2	SYNJ1	O43426	738
STON2	SYNJ2	O15056	705
STON2	SNAP91	O60641	704
STON2	EPN2	O95208	667
STON2	SYP	P08247	641
STON2	EPN3	Q9H201	617
STON2	FCHO1	O14526	604
STON2	CEP128	Q6ZU80	597

IntAct

98 interactions, top by confidence:

A	B	Type	Score
NEDD8	CUL1	psi-mi:“MI:0914”(association)	0.960
EPS15	STON2	psi-mi:“MI:0407”(direct interaction)	0.840
STON2	EPS15	psi-mi:“MI:0407”(direct interaction)	0.840
EPS15	STON2	psi-mi:“MI:0915”(physical association)	0.840
STON2	EPS15	psi-mi:“MI:0915”(physical association)	0.840
AP2S1	AP2A2	psi-mi:“MI:0914”(association)	0.640
EPS15L1	STON2	psi-mi:“MI:0407”(direct interaction)	0.590
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
CLINT1	PIK3C2A	psi-mi:“MI:0914”(association)	0.530
EPS15L1	NDC80	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
NEDD8	STON2	psi-mi:“MI:0915”(physical association)	0.500
STON2	SYT1	psi-mi:“MI:0403”(colocalization)	0.490
S	STON2	psi-mi:“MI:0915”(physical association)	0.480
BCR/ABL fusion	PIK3R2	psi-mi:“MI:0914”(association)	0.460
STON2	EHD1	psi-mi:“MI:0407”(direct interaction)	0.440
STON2	REPS1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (134): STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS), STON2 (Affinity Capture-MS)

ESM2 similar proteins: A5A6J5, D4AB66, E2RSQ2, F1M5F3, F1N2W9, F1QDI9, I0IUP4, O14795, P17863, P22681, P22682, P49797, Q02040, Q15014, Q24K03, Q2KHI9, Q2KJ58, Q2T9Y1, Q2YDJ8, Q496Y0, Q4KUS2, Q4R578, Q52L14, Q56K12, Q5C9Z4, Q5F3L9, Q5M7C8, Q5R6Y9, Q5R905, Q62768, Q62769, Q66JB6, Q69ZT9, Q6QI89, Q8BND4, Q8BZ60, Q8HXH0, Q8IYS8, Q8N5Y2, Q8VDV3

Diamond homologs: D4AB66, P90761, Q24212, Q8BZ60, Q8CDJ8, Q8WXE9, Q9Y6Q2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
STON2	“up-regulates quantity”	VAMP2	binding
STON2	“up-regulates quantity”	SYT1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 95 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
WNT5A-dependent internalization of FZD4	6	69.2×	9e-09
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	6	57.7×	2e-08
The role of Nef in HIV-1 replication and disease pathogenesis	6	57.7×	2e-08
VLDLR internalisation and degradation	5	54.1×	8e-07
LDL clearance	6	49.4×	6e-08
Plasma lipoprotein clearance	5	36.0×	6e-06
Host Interactions of HIV factors	6	30.5×	1e-06
Golgi Associated Vesicle Biogenesis	9	27.3×	3e-09

GO biological processes:

GO term	Partners	Fold	FDR
clathrin coat assembly	10	121.5×	7e-17
clathrin-dependent endocytosis	9	71.6×	1e-12
synaptic vesicle endocytosis	8	47.4×	1e-09
negative regulation of protein localization to plasma membrane	5	42.8×	8e-06
endocytosis	11	14.3×	3e-08
vesicle-mediated transport	10	13.2×	4e-07
intracellular protein transport	11	9.8×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	123
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	Likely pathogenic

SpliceAI

1727 predictions. Top by Δscore:

Variant	Effect	Δscore
14:81278735:ATTGT:A	acceptor_gain	1.0000
14:81278736:TTGT:T	acceptor_gain	1.0000
14:81278737:TGT:T	acceptor_gain	1.0000
14:81278738:GT:G	acceptor_gain	1.0000
14:81278738:GTCT:G	acceptor_loss	1.0000
14:81278739:TCTAA:T	acceptor_loss	1.0000
14:81278740:C:CC	acceptor_gain	1.0000
14:81278741:T:G	acceptor_loss	1.0000
14:81395888:CCTCA:C	donor_loss	1.0000
14:81395889:CTCA:C	donor_loss	1.0000
14:81395893:C:CA	donor_loss	1.0000
14:81395902:G:C	donor_gain	1.0000
14:81398293:AC:A	donor_gain	1.0000
14:81398294:CC:C	donor_gain	1.0000
14:81398294:CCCTG:C	donor_gain	1.0000
14:81270873:C:CC	acceptor_gain	0.9900
14:81281528:AC:A	donor_gain	0.9900
14:81281529:CC:C	donor_gain	0.9900
14:81281665:C:CT	acceptor_gain	0.9900
14:81281666:A:T	acceptor_gain	0.9900
14:81287288:A:AC	donor_gain	0.9900
14:81287289:C:CC	donor_gain	0.9900
14:81320722:C:A	donor_gain	0.9900
14:81324203:CAAGA:C	acceptor_gain	0.9900
14:81324204:A:T	acceptor_gain	0.9900
14:81370982:TCTTA:T	donor_loss	0.9900
14:81370983:CTTAC:C	donor_loss	0.9900
14:81370984:TTA:T	donor_loss	0.9900
14:81370985:T:TG	donor_loss	0.9900
14:81370986:ACCAG:A	donor_loss	0.9900

AlphaMissense

6666 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000005161 (14:81392165 A>T), RS1000007385 (14:81310326 T>C), RS1000038602 (14:81310134 T>A,C), RS1000048129 (14:81434898 G>A), RS1000065008 (14:81266856 C>T), RS1000085587 (14:81351440 C>T), RS1000092411 (14:81394403 C>T), RS1000110090 (14:81302963 A>C,G), RS1000116259 (14:81271989 C>T), RS1000149004 (14:81409428 A>AAT), RS1000169389 (14:81407148 T>C), RS1000186122 (14:81346567 G>A), RS1000187367 (14:81285123 T>C), RS1000197504 (14:81435848 C>A), RS1000201752 (14:81409602 T>A,C)

Disease associations

OMIM: gene MIM:608467 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001762_480	Obesity-related traits	5.000000e-06
GCST003542_76	Night sleep phenotypes	4.000000e-06
GCST004603_140	Platelet count	3.000000e-09
GCST004607_98	Plateletcrit	2.000000e-09
GCST004639_33	Prudent dietary pattern	7.000000e-06
GCST005667_34	Central corneal thickness	4.000000e-09
GCST008058_50	Estimated glomerular filtration rate	3.000000e-10
GCST008059_205	Estimated glomerular filtration rate	8.000000e-09
GCST009391_1947	Metabolite levels	3.000000e-06
GCST009391_249	Metabolite levels	3.000000e-06
GCST009391_556	Metabolite levels	4.000000e-06
GCST009391_599	Metabolite levels	2.000000e-06
GCST90000654_56	Central corneal thickness	3.000000e-13
GCST90002400_139	Plateletcrit	2.000000e-13
GCST90002402_193	Platelet count	6.000000e-16

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0008111	diet measurement
EFO:0005213	central corneal thickness
EFO:0010462	aspartate measurement
EFO:0010491	glycocholate measurement
EFO:0009769	histidine measurement
EFO:0010502	indoxyl sulfate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases expression	3
trichostatin A	affects cotreatment, decreases expression	3
Estradiol	affects cotreatment, increases expression, decreases expression	3
Valproic Acid	increases expression	3
Acetaminophen	affects cotreatment, increases expression	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Benzo(a)pyrene	increases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, increases abundance	2
Aflatoxin B1	decreases methylation, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
torcetrapib	increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
incobotulinumtoxinA	increases expression	1
Sunitinib	decreases expression	1
Leflunomide	increases expression	1

Clinical trials (associated diseases)

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