ENSA

Summary

ENSA (endosulfine alpha, HGNC:3360) is a protein-coding gene on chromosome 1q21.3, encoding Alpha-endosulfine (O43768). Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. It is a selective cancer dependency (DepMap: 20.4% of cell lines).

The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed.

Source: NCBI Gene 2029 — RefSeq curated summary.

At a glance

• GWAS associations: 30
• Clinical variants (ClinVar): 19 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 20.4% of screened cell lines
• MANE Select transcript: NM_004436

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3360
Approved symbol	ENSA
Name	endosulfine alpha
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC4319, MGC8394, MGC78563, ARPP-19e
Ensembl gene	ENSG00000143420
Ensembl biotype	protein_coding
OMIM	603061
Entrez	2029

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 17 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000271690, ENST00000339643, ENST00000354702, ENST00000356527, ENST00000361532, ENST00000361631, ENST00000362052, ENST00000369014, ENST00000369016, ENST00000503241, ENST00000503345, ENST00000505321, ENST00000509582, ENST00000513281, ENST00000638926, ENST00000865477, ENST00000865478, ENST00000865479, ENST00000933079, ENST00000945189

RefSeq mRNA: 8 — MANE Select: NM_004436 NM_004436, NM_207042, NM_207043, NM_207044, NM_207045, NM_207046, NM_207047, NM_207168

CCDS: CCDS958, CCDS959, CCDS960, CCDS961, CCDS962, CCDS963, CCDS964, CCDS965

Canonical transcript exons

ENST00000369014 — 4 exons

Exon	Start	End
ENSE00001448593	150629414	150629612
ENSE00001832832	150622125	150622859
ENSE00003490028	150627467	150627592
ENSE00003627362	150625642	150625808

Expression profiles

Bgee: expression breadth ubiquitous, 303 present calls, max score 99.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.8490 / max 708.0917, expressed in 1815 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14335	49.3354	1814
14333	3.3107	1315
14334	0.2029	66

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cervix squamous epithelium	UBERON:0006922	99.50	gold quality
esophagus squamous epithelium	UBERON:0006920	99.49	gold quality
tongue squamous epithelium	UBERON:0006919	99.40	gold quality
squamous epithelium	UBERON:0006914	99.39	gold quality
frontal pole	UBERON:0002795	99.38	gold quality
epithelium of esophagus	UBERON:0001976	99.36	gold quality
endometrium epithelium	UBERON:0004811	99.35	gold quality
prefrontal cortex	UBERON:0000451	99.16	gold quality
cervix epithelium	UBERON:0004801	99.04	gold quality
esophagus mucosa	UBERON:0002469	99.03	gold quality
skin of abdomen	UBERON:0001416	98.99	gold quality
gingival epithelium	UBERON:0001949	98.99	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.95	gold quality
penis	UBERON:0000989	98.90	gold quality
right frontal lobe	UBERON:0002810	98.90	gold quality
lower esophagus mucosa	UBERON:0035834	98.90	gold quality
skin of leg	UBERON:0001511	98.87	gold quality
mammalian vulva	UBERON:0000997	98.85	gold quality
gingiva	UBERON:0001828	98.84	gold quality
tendon of biceps brachii	UBERON:0008188	98.84	gold quality
zone of skin	UBERON:0000014	98.80	gold quality
cingulate cortex	UBERON:0003027	98.80	gold quality
anterior cingulate cortex	UBERON:0009835	98.78	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.75	gold quality
amygdala	UBERON:0001876	98.72	gold quality
hair follicle	UBERON:0002073	98.69	gold quality
upper leg skin	UBERON:0004262	98.65	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.64	gold quality
esophagus	UBERON:0001043	98.63	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-6	yes	18.29
E-MTAB-2983	no	754.92
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting ENSA, 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-3120-5P	100.00	65.56	965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-561-5P	98.25	68.13	1365
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-4690-3P	97.02	64.72	981
HSA-MIR-5685	97.02	64.34	1004
HSA-MIR-3907	96.76	65.04	662

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 20.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• The considerably decreased alpha-endosulfine could result in the continuous opening of K(ATP) channels and the subsequent decrease of neurotransmitters release associated with cognition in Down Syndrome. (PMID:11771735)
• We mapped ENSA in silico to chromosome 1q21 near a confirmed type 2 diabetes susceptibility locus, and derived the genomic structure of four exons and three introns. (PMID:14728986)
• The ENSA gene on 1q21 produces several alternatively spliced transcripts, and is located within a region linked with T2DM in diverse populations including the Pima Indians (PMID:14728987)
• Overexpressed ENSA suppresses tumor growth in an established hepatic cell line whereas hypermethylated ENSA might help maintain liver cancer initiating cells. (PMID:24211627)
• Taken together our results suggest a hierarchy of phosphatases coordinating Greatwall, Ensa/ARPP19 and Cdk substrate dephosphorylation during mitotic exit. (PMID:24391510)
• The extended S phase in Ensa-depleted cells is completely rescued by the overexpression of Treslin. (PMID:28785014)
• Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa. (PMID:32454406)
• Interaction mechanism of endogenous PP2A inhibitor protein ENSA with PP2A. (PMID:34346186)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ensaa	ENSDARG00000036944
danio_rerio	ensab	ENSDARG00000061644
mus_musculus	Ensa	ENSMUSG00000038619
rattus_norvegicus	Ensa	ENSRNOG00000048617
caenorhabditis_elegans	ensa-1	WBGENE00010730

Paralogs (1): ARPP19 (ENSG00000128989)

Protein

Protein identifiers

Alpha-endosulfine — O43768 (reviewed: O43768)

Alternative names: ARPP-19e

All UniProt accessions (4): O43768, A0A1W2PRU0, A6NMQ3, Q5T5H1

UniProt curated annotations — full annotation on UniProt →

Function. Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase. Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor (ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents.

Subunit / interactions. Interacts (when phosphorylated at Ser-67) with PPP2R2D. Interacts with ABCC8. Interacts with SNCA; interaction is disrupted when phosphorylated at Ser-109.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed with high levels in skeletal muscle and brain and lower levels in the pancreas.

Post-translational modifications. Phosphorylation at Ser-67 by GWL during mitosis is essential for interaction with PPP2R2D (PR55-delta) and subsequent inactivation of PP2A. Phosphorylated by PKA.

Similarity. Belongs to the endosulfine family.

Isoforms (9)

UniProt ID	Names	Canonical?
O43768-1	1, Alpha	yes
O43768-2	2, Beta
O43768-3	3
O43768-4	4
O43768-5	5
O43768-6	6
O43768-7	7
O43768-8	8
O43768-9	9

RefSeq proteins (8): NP_004427, NP_996925, NP_996926, NP_996927, NP_996928, NP_996929, NP_996930, NP_997051 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006760	Endosulphine	Family

Pfam: PF04667

UniProt features (22 total): modified residue 6, splice variant 6, sequence conflict 4, region of interest 2, initiator methionine 1, chain 1, mutagenesis site 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43768-F1	67.74	0.05

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 (6): 109, 2, 2, 21, 43, 67

Mutagenesis-validated functional residues (1):

Position	Phenotype
109	mimicks a phosphorylated state and impairs interaction with snca.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2465910	MASTL Facilitates Mitotic Progression

MSigDB gene sets: 265 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, MORF_MTA1, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MORF_MBD4, MORF_RAB5A, GOBP_INSULIN_SECRETION, GOBP_CELL_CYCLE_PHASE_TRANSITION, MAZ_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MORF_RAD21, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, MORF_PSMC2, YY1_Q6

GO Biological Process (5): G2/M transition of mitotic cell cycle (GO:0000086), mitotic cell cycle (GO:0000278), response to nutrient (GO:0007584), regulation of insulin secretion (GO:0050796), cell division (GO:0051301)

GO Molecular Function (8): protein phosphatase inhibitor activity (GO:0004864), signaling receptor binding (GO:0005102), ion channel inhibitor activity (GO:0008200), phosphatase inhibitor activity (GO:0019212), potassium channel inhibitor activity (GO:0019870), protein phosphatase regulator activity (GO:0019888), protein phosphatase 2A binding (GO:0051721), protein binding (GO:0005515)

GO Cellular Component (2): nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Mitotic Prophase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphoprotein phosphatase activity	2
phosphatase regulator activity	2
protein phosphatase binding	2
cellular anatomical structure	2
mitotic cell cycle	1
mitotic cell cycle phase transition	1
cell cycle G2/M phase transition	1
cell cycle	1
mitotic nuclear division	1
response to nutrient levels	1
response to chemical	1
insulin secretion	1
regulation of protein secretion	1
regulation of peptide hormone secretion	1
cellular process	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
protein binding	1
monoatomic ion channel activity	1
channel inhibitor activity	1
transmembrane transporter binding	1
ion channel regulator activity	1
enzyme inhibitor activity	1
phosphatase activity	1
potassium channel activity	1
ion channel inhibitor activity	1
potassium channel regulator activity	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1014 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ENSA	MASTL	Q96GX5	982
ENSA	PPP2R2D	Q66LE6	972
ENSA	MINK1	Q8N4C8	897
ENSA	ABCC8	Q09428	822
ENSA	CDK1	P06493	791
ENSA	ARPP21	Q9UBL0	670
ENSA	PPP2R1A	P30153	665
ENSA	PPP1R1B	Q9UD71	634
ENSA	PPP2R2A	P50409	624
ENSA	PPP2CA	P05323	609
ENSA	REC8	O95072	560
ENSA	SGO2	Q562F6	558
ENSA	SGO1	Q5FBB7	549
ENSA	WEE1	P30291	543
ENSA	ESPL1	Q14674	527

IntAct

47 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PPP2R2D	ENSA	psi-mi:“MI:0914”(association)	0.570
PPP2R2D	ENSA	psi-mi:“MI:2364”(proximity)	0.570
PPP2R1A	ENSA	psi-mi:“MI:0914”(association)	0.530
CHCHD4	ENSA	psi-mi:“MI:0914”(association)	0.530
ENSA	ACD	psi-mi:“MI:0915”(physical association)	0.510
ENSA	TPPP2	psi-mi:“MI:0915”(physical association)	0.400
POT1	ENSA	psi-mi:“MI:0915”(physical association)	0.370
ENSA	DNMT1	psi-mi:“MI:0915”(physical association)	0.370
ENSA	PSEN1	psi-mi:“MI:0915”(physical association)	0.370
PPP2R2A	ENSA	psi-mi:“MI:0914”(association)	0.350
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
PPP2CA	ENSA	psi-mi:“MI:0914”(association)	0.350
PPP2CB	ENSA	psi-mi:“MI:0914”(association)	0.350
SLK	ENSA	psi-mi:“MI:0914”(association)	0.350
BBS1	SHTN1	psi-mi:“MI:0914”(association)	0.350
ZBTB2	SHTN1	psi-mi:“MI:0914”(association)	0.350
B3GNT2	PDLIM1	psi-mi:“MI:0914”(association)	0.350
UBA5	ENSA	psi-mi:“MI:0914”(association)	0.350
XPA	ENSA	psi-mi:“MI:0914”(association)	0.350
ENSA	DPP9	psi-mi:“MI:0914”(association)	0.350
CHCHD4	PDHX	psi-mi:“MI:0914”(association)	0.350
GSTT1	ENSA	psi-mi:“MI:0914”(association)	0.350
PPP2R2D	MAST4	psi-mi:“MI:0914”(association)	0.350
RAE1	NHERF1	psi-mi:“MI:0914”(association)	0.350
SLC33A1	SHTN1	psi-mi:“MI:0914”(association)	0.350
CFTR	UBA6	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (85): ENSA (Co-fractionation), ENSA (Biochemical Activity), ENSA (Affinity Capture-MS), ENSA (Affinity Capture-MS), OFD1 (Affinity Capture-MS), RPP25 (Affinity Capture-MS), DPP9 (Affinity Capture-MS), PEX6 (Affinity Capture-MS), UBB (Affinity Capture-MS), QSOX1 (Affinity Capture-MS), USP4 (Affinity Capture-MS), CBX5 (Affinity Capture-MS), IREB2 (Affinity Capture-MS), DDX19B (Affinity Capture-MS), POP7 (Affinity Capture-MS)

ESM2 similar proteins: A2AQ19, B5G1C4, B5XE27, O43395, O43768, O75391, O95983, P19237, P56211, P56212, P60840, P60841, P68210, P68211, Q0MUU2, Q13123, Q13435, Q1L8X2, Q28055, Q28GU6, Q2KI76, Q2KIA6, Q3UJB0, Q3ZBD4, Q5NVI3, Q5R5F1, Q5R5J3, Q5RAD5, Q5RB90, Q5ZIF8, Q5ZJ85, Q5ZLY8, Q66HG8, Q6DEB4, Q6GQG3, Q6NVR1, Q712U5, Q712U6, Q7TNE3, Q7ZXH9

Diamond homologs: B5G1C4, B5XE27, O43768, P56211, P56212, P60840, P60841, P68210, P68211, P79058, Q1L8X2, Q28055, Q28GU6, Q5ZIF8, Q5ZLY8, Q6DEB4, Q6GQG3, Q6NVR1, Q712U5, Q712U6, Q7ZXH9, P53897, Q9P305

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MASTL	“up-regulates activity”	ENSA	phosphorylation
ENSA	“down-regulates activity”	PPP2R2D	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	Pathogenic

SpliceAI

548 predictions. Top by Δscore:

Variant	Effect	Δscore
1:150625674:T:A	donor_gain	1.0000
1:150627463:ATACC:A	donor_gain	1.0000
1:150627465:ACC:A	donor_gain	1.0000
1:150627466:C:CG	donor_loss	1.0000
1:150627466:CCC:C	donor_gain	1.0000
1:150627593:C:CC	acceptor_gain	1.0000
1:150627593:CTG:C	acceptor_loss	1.0000
1:150627594:T:A	acceptor_loss	1.0000
1:150629409:TTCA:T	donor_loss	1.0000
1:150629410:TCAC:T	donor_loss	1.0000
1:150629411:CACC:C	donor_loss	1.0000
1:150629413:CC:C	donor_loss	1.0000
1:150629413:CCTG:C	donor_gain	1.0000
1:150622873:C:CT	acceptor_gain	0.9900
1:150625640:AC:A	donor_gain	0.9900
1:150625641:CC:C	donor_gain	0.9900
1:150625653:G:A	donor_gain	0.9900
1:150625687:T:TA	donor_gain	0.9900
1:150625804:TTTTG:T	acceptor_gain	0.9900
1:150625807:TG:T	acceptor_gain	0.9900
1:150625809:C:CC	acceptor_gain	0.9900
1:150627465:A:AC	donor_gain	0.9900
1:150627465:AC:A	donor_gain	0.9900
1:150627466:C:CC	donor_gain	0.9900
1:150627466:CC:C	donor_gain	0.9900
1:150627468:C:CA	donor_gain	0.9900
1:150627484:T:TA	donor_gain	0.9900
1:150627588:GTGTC:G	acceptor_gain	0.9900
1:150627589:TGTC:T	acceptor_gain	0.9900
1:150627590:GTC:G	acceptor_gain	0.9900

AlphaMissense

793 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:150625674:T:A	R106S	1.000
1:150625674:T:G	R106S	1.000
1:150625693:G:T	P100Q	1.000
1:150625711:C:T	G94D	1.000
1:150625769:C:G	A75P	1.000
1:150625777:A:G	M72T	1.000
1:150625783:T:C	Y70C	1.000
1:150625784:A:C	Y70D	1.000
1:150625784:A:G	Y70H	1.000
1:150625786:T:A	D69V	1.000
1:150625786:T:C	D69G	1.000
1:150625786:T:G	D69A	1.000
1:150625787:C:G	D69H	1.000
1:150625789:C:A	G68V	1.000
1:150625789:C:G	G68A	1.000
1:150625789:C:T	G68E	1.000
1:150625790:C:G	G68R	1.000
1:150625790:C:T	G68R	1.000
1:150625792:G:A	S67L	1.000
1:150625793:A:G	S67P	1.000
1:150625794:G:C	D66E	1.000
1:150625794:G:T	D66E	1.000
1:150625795:T:A	D66V	1.000
1:150625795:T:C	D66G	1.000
1:150625795:T:G	D66A	1.000
1:150625796:C:G	D66H	1.000
1:150625796:C:T	D66N	1.000
1:150625797:A:C	F65L	1.000
1:150625797:A:T	F65L	1.000
1:150625798:A:C	F65C	1.000

dbSNP variants (sampled 300 via entrez): RS1000223236 (1:150630035 G>C), RS1000340352 (1:150621431 G>A), RS1000740383 (1:150621241 G>C), RS1000836365 (1:150629556 T>C,G), RS1001396202 (1:150622307 A>G), RS1001562095 (1:150626706 G>GCC), RS1001779737 (1:150629829 C>G,T), RS1001887407 (1:150621019 A>G), RS1001906593 (1:150626823 C>G,T), RS1002084672 (1:150629534 G>A), RS1002348515 (1:150621465 G>A), RS1003169933 (1:150625393 A>G,T), RS1003631829 (1:150624948 AGT>A), RS1003727236 (1:150626972 G>C), RS1003845019 (1:150621869 TA>T)

Disease associations

OMIM: gene MIM:603061 | disease phenotypes: MIM:612475

GenCC curated gene-disease

Mondo (1): chromosome 1q21.1 duplication syndrome (MONDO:0012915)

Orphanet (1): 1q21.1 microduplication syndrome (Orphanet:250994)

HPO phenotypes

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

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST001966_1	Rhegmatogenous retinal detachment	1.000000e-07
GCST003968_2	Pericardial adipose tissue adjusted for height and weight	5.000000e-07
GCST003968_3	Pericardial adipose tissue adjusted for height and weight	3.000000e-09
GCST004600_66	Eosinophil percentage of white cells	6.000000e-15
GCST004606_173	Eosinophil count	5.000000e-19
GCST004608_37	Granulocyte percentage of myeloid white cells	1.000000e-39
GCST004608_38	Granulocyte percentage of myeloid white cells	4.000000e-51
GCST004609_182	Monocyte percentage of white cells	3.000000e-41
GCST004609_183	Monocyte percentage of white cells	4.000000e-56
GCST004617_59	Eosinophil percentage of granulocytes	2.000000e-17
GCST004623_151	Neutrophil percentage of granulocytes	6.000000e-19
GCST004624_199	Sum eosinophil basophil counts	1.000000e-20
GCST004625_39	Monocyte count	5.000000e-64
GCST005977_25	Monocyte count	1.000000e-10
GCST005987_21	Albumin-globulin ratio	3.000000e-09
GCST005990_37	Non-albumin protein levels	2.000000e-11
GCST006544_1	Pericardial adipose tissue adjusted for height and weight	4.000000e-06
GCST007565_51	Morning person	6.000000e-15
GCST007576_309	Chronotype	3.000000e-10
GCST008480_2	Lung function (FEV1)	4.000000e-09
GCST008482_2	Lung function (FVC)	6.000000e-09
GCST008972_73	Urate levels	6.000000e-14
GCST009801_1	Coffee consumption	1.000000e-10
GCST010002_366	Refractive error	3.000000e-15
GCST90002381_3	Eosinophil count	5.000000e-55
GCST90002382_11	Eosinophil percentage of white cells	4.000000e-39
GCST90002392_282	Mean corpuscular volume	1.000000e-09
GCST90002393_48	Monocyte count	9.000000e-86
GCST90002394_79	Monocyte percentage of white cells	3.000000e-48
GCST90002394_80	Monocyte percentage of white cells	1.000000e-31

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004338	body weight
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0005091	monocyte count
EFO:0005128	albumin:globulin ratio measurement
EFO:0008328	chronotype measurement
EFO:0004314	forced expiratory volume
EFO:0004312	vital capacity
EFO:0004531	urate measurement
EFO:0006781	coffee consumption measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567290	Chromosome 1q21.1 Duplication Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	5
bisphenol A	decreases expression, increases expression	2
sodium arsenite	decreases expression, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Cisplatin	affects expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression, increases abundance	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
ochratoxin A	decreases expression	1
coumarin	decreases phosphorylation	1
entinostat	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression, increases abundance	1
Estradiol	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01238250	Not specified	RECRUITING	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight