SYT4

Summary

SYT4 (synaptotagmin 4, HGNC:11512) is a protein-coding gene on chromosome 18q12.3, encoding Synaptotagmin-4 (Q9H2B2). Synaptotagmin family member which does not bind Ca(2+).

Predicted to enable several functions, including calcium ion sensor activity; protein dimerization activity; and syntaxin binding activity. Involved in negative regulation of catecholamine secretion and positive regulation of dendrite extension. Predicted to be located in neuron projection terminus and secretory vesicle. Predicted to be active in several cellular components, including axon; glutamatergic synapse; and secretory vesicle.

Source: NCBI Gene 6860 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_020783

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11512
Approved symbol	SYT4
Name	synaptotagmin 4
Location	18q12.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1342, HsT1192
Ensembl gene	ENSG00000132872
Ensembl biotype	protein_coding
OMIM	600103
Entrez	6860

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000255224, ENST00000585604, ENST00000586678, ENST00000589479, ENST00000590752, ENST00000591820, ENST00000593720, ENST00000596867, ENST00000967898

RefSeq mRNA: 1 — MANE Select: NM_020783 NM_020783

CCDS: CCDS11922

Canonical transcript exons

ENST00000255224 — 4 exons

Exon	Start	End
ENSE00000668643	43273580	43274394
ENSE00001140606	43267892	43270648
ENSE00002737381	43277248	43277490
ENSE00003655615	43271712	43271832

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 98.48.

FANTOM5 (CAGE): breadth broad, TPM avg 12.2378 / max 837.3310, expressed in 311 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171754	4.3476	232
171750	2.5986	201
171757	1.3951	194
171752	1.0437	155
171748	0.9633	160
171751	0.6994	134
171755	0.4796	128
171749	0.2459	88
171756	0.2357	107
171753	0.2289	85

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	98.48	gold quality
cortical plate	UBERON:0005343	98.14	gold quality
cerebellum	UBERON:0002037	98.05	gold quality
endothelial cell	CL:0000115	97.99	gold quality
cerebellar cortex	UBERON:0002129	97.99	gold quality
cerebellar hemisphere	UBERON:0002245	97.95	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.52	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.37	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.98	gold quality
middle temporal gyrus	UBERON:0002771	96.91	gold quality
superior frontal gyrus	UBERON:0002661	96.89	gold quality
superior vestibular nucleus	UBERON:0007227	96.79	gold quality
islet of Langerhans	UBERON:0000006	96.47	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.40	gold quality
pons	UBERON:0000988	96.01	gold quality
parietal lobe	UBERON:0001872	95.79	gold quality
postcentral gyrus	UBERON:0002581	95.57	gold quality
medulla oblongata	UBERON:0001896	95.45	gold quality
entorhinal cortex	UBERON:0002728	95.30	gold quality
prefrontal cortex	UBERON:0000451	94.95	gold quality
primary visual cortex	UBERON:0002436	94.81	gold quality
occipital lobe	UBERON:0002021	94.62	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.39	gold quality
dorsal root ganglion	UBERON:0000044	94.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.08	gold quality
frontal cortex	UBERON:0001870	94.03	gold quality
frontal lobe	UBERON:0016525	94.03	gold quality
substantia nigra pars compacta	UBERON:0001965	93.22	gold quality
pericardium	UBERON:0002407	93.22	gold quality
neocortex	UBERON:0001950	93.17	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-83139	yes	637.45
E-GEOD-109979	yes	101.84
E-MTAB-5061	yes	9.36
E-HCAD-5	yes	8.18
E-ANND-3	yes	4.99

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): REST

miRNA regulators (miRDB)

210 targeting SYT4, 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-9-5P	100.00	72.28	2361
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
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-507	99.97	70.11	1915
HSA-MIR-3065-5P	99.97	71.56	3281

Literature-anchored findings (GeneRIF, showing 3)

• Synaptotagmin 4 negatively regulates oxytocin exocytosis, and dietary obesity is associated with increased synaptotagmin 4 binding to vesicles. (PMID:21315262)
• Data show although no any significant differences between patient groups and lean subjects of proteins SYT4, BAG3, APOA1, and VAV3, except for VGF protein, there was a trend between the expression of these four genes and their protein levels. (PMID:26337083)
• Syt4 Overexpression Represses Basal Insulin Secretion and Impairs Islet Morphogenesis. (PMID:29656931)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	syt4	ENSDARG00000036505
mus_musculus	Syt4	ENSMUSG00000024261
rattus_norvegicus	Syt4	ENSRNOG00000017333

Paralogs (31): SYT7 (ENSG00000011347), SYT13 (ENSG00000019505), SYT1 (ENSG00000067715), RPH3A (ENSG00000089169), SYTL4 (ENSG00000102362), SYT17 (ENSG00000103528), SYT10 (ENSG00000110975), SYT5 (ENSG00000129990), SYT11 (ENSG00000132718), SYT6 (ENSG00000134207), SYTL2 (ENSG00000137501), SYT16 (ENSG00000139973), SYTL1 (ENSG00000142765), SYT14 (ENSG00000143469), SYT2 (ENSG00000143858), SYTL5 (ENSG00000147041), SYT8 (ENSG00000149043), DOC2A (ENSG00000149927), SYTL3 (ENSG00000164674), TC2N (ENSG00000165929), SYT9 (ENSG00000170743), SYT12 (ENSG00000173227), RPH3AL (ENSG00000181031), C2CD4C (ENSG00000183186), C2CD4A (ENSG00000198535), SYT15 (ENSG00000204176), C2CD4B (ENSG00000205502), SYT3 (ENSG00000213023), C2CD4D (ENSG00000225556), DOC2B (ENSG00000272636), SYT15B (ENSG00000277758)

Protein

Protein identifiers

Synaptotagmin-4 — Q9H2B2 (reviewed: Q9H2B2)

Alternative names: Synaptotagmin IV

All UniProt accessions (3): Q9H2B2, M0QZF3, M0R2I0

UniProt curated annotations — full annotation on UniProt →

Function. Synaptotagmin family member which does not bind Ca(2+). Involved in neuronal dense core vesicles (DCVs) mobility through its interaction with KIF1A. Upon increased neuronal activity, phosphorylation by MAPK8/JNK1 destabilizes the interaction with KIF1A and captures DCVs to synapses. Plays a role in dendrite formation by melanocytes.

Subunit / interactions. Interacts with KIF1A; the interaction increases in presence of calcium and decreases when SYT4 is phosphorylated at Ser-135.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Neuronal dense core vesicle membrane.

Tissue specificity. Expressed in melanocytes. Expressed in brain. Within brain, expression is highest in hippocampus, with substantial levels also detected in amygdala and thalamus.

Post-translational modifications. Phosphorylation at Ser-135 by MAPK8/JNK1 reduces interaction with KIF1A and neuronal dense core vesicles mobility.

Domain organisation. Unlike in other synaptotagmin family members, the first C2 domain/C2A does not bind Ca(2+) neither mediates Ca(2+)-dependent phospholipid binding. An aspartate-to-serine substitution in this domain inactivates Ca(2+)/phospho-lipid binding.

Similarity. Belongs to the synaptotagmin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H2B2-1	1	yes
Q9H2B2-2	2

RefSeq proteins (1): NP_065834* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR001565	Synaptotagmin	Domain
IPR035892	C2_domain_sf	Homologous_superfamily

Pfam: PF00168

UniProt features (28 total): strand 8, binding site 3, topological domain 2, helix 2, turn 2, domain 2, region of interest 2, compositionally biased region 2, chain 1, modified residue 1, splice variant 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1UGK	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2B2-F1	73.43	0.43

Functional residue map

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

Ligand- & substrate-binding residues (3): 246; 249; 252

Post-translational modifications (1): 135

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 359 (showing top): GOBP_MEMORY, MYAATNNNNNNNGGC_UNKNOWN, GOBP_GLUTAMATE_SECRETION, GOBP_REGULATION_OF_VESICLE_FUSION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_COGNITION, MYOGENIN_Q6, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, GOBP_BEHAVIOR, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_ORGANIC_ACID_TRANSPORT, GOBP_VESICLE_LOCALIZATION, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY

GO Biological Process (24): vesicle fusion (GO:0006906), memory (GO:0007613), positive regulation of glutamate secretion (GO:0014049), regulation of dopamine secretion (GO:0014059), vesicle-mediated transport (GO:0016192), regulation of calcium ion-dependent exocytosis (GO:0017158), regulation of endocytosis (GO:0030100), cell differentiation (GO:0030154), negative regulation of catecholamine secretion (GO:0033604), negative regulation of calcium ion-dependent exocytosis (GO:0045955), positive regulation of calcium ion-dependent exocytosis (GO:0045956), negative regulation of short-term neuronal synaptic plasticity (GO:0048174), negative regulation of protein secretion (GO:0050709), calcium-dependent activation of synaptic vesicle fusion (GO:0099502), dense core granule cytoskeletal transport (GO:0099519), regulation of trans-synaptic signaling by BDNF, modulating synaptic transmission (GO:0150035), regulation of postsynaptic dense core vesicle exocytosis (GO:0150044), positive regulation of dendrite extension (GO:1903861), positive regulation of dense core granule exocytosis (GO:1905415), negative regulation of retrograde trans-synaptic signaling by neuropeptide (GO:1905433), negative regulation of synaptic vesicle exocytosis (GO:2000301), neurotransmitter secretion (GO:0007269), regulation of vesicle fusion (GO:0031338), negative regulation of secretion by cell (GO:1903531)

GO Molecular Function (6): SNARE binding (GO:0000149), calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), calcium ion sensor activity (GO:0061891), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (22): Golgi membrane (GO:0000139), plasma membrane (GO:0005886), axon (GO:0030424), dendrite (GO:0030425), synaptic vesicle membrane (GO:0030672), dense core granule membrane (GO:0032127), neuronal cell body (GO:0043025), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), exocytic vesicle (GO:0070382), astrocyte projection (GO:0097449), glutamatergic synapse (GO:0098978), neuronal dense core vesicle (GO:0098992), neuronal dense core vesicle membrane (GO:0099012), microvesicle (GO:1990742), Golgi apparatus (GO:0005794), membrane (GO:0016020), dense core granule (GO:0031045), cytoplasmic vesicle (GO:0031410), vesicle (GO:0031982), somatodendritic compartment (GO:0036477), neuron projection (GO:0043005)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
calcium-ion regulated exocytosis	3
cytoplasm	3
regulation of catecholamine secretion	2
negative regulation of secretion by cell	2
regulation of calcium ion-dependent exocytosis	2
regulation of dense core granule exocytosis	2
neuron projection	2
dense core granule	2
cellular anatomical structure	2
vesicle organization	1
vesicle-mediated transport	1
organelle membrane fusion	1
learning or memory	1
glutamate secretion	1
regulation of glutamate secretion	1
positive regulation of organic acid transport	1
positive regulation of amino acid transport	1
positive regulation of secretion by cell	1
dopamine secretion	1
transport	1
cellular process	1
regulation of regulated secretory pathway	1
endocytosis	1
regulation of cellular component organization	1
regulation of vesicle-mediated transport	1
cellular developmental process	1
catecholamine secretion	1
negative regulation of amine transport	1
negative regulation of regulated secretory pathway	1
positive regulation of regulated secretory pathway	1
regulation of short-term neuronal synaptic plasticity	1
negative regulation of neurogenesis	1
protein secretion	1
regulation of protein secretion	1
negative regulation of protein transport	1
synaptic vesicle exocytosis	1
positive regulation of synaptic vesicle fusion to presynaptic active zone membrane	1
axon	1
vesicle cytoskeletal trafficking	1
dense core granule transport	1

Protein interactions and networks

STRING

2198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SYT4	CPLX1	O14810	839
SYT4	SNAP25	P13795	783
SYT4	STX6	O43752	658
SYT4	VAMP2	P19065	638
SYT4	KIF1A	Q12756	627
SYT4	OTOF	Q9HC10	617
SYT4	STX1A	Q16623	537
SYT4	STX1B	P61266	530
SYT4	SYP	P08247	484
SYT4	RIT2	Q99578	478
SYT4	VAMP3	Q15836	467
SYT4	SYN1	P17600	466
SYT4	VAMP4	O75379	461
SYT4	SSTR2	P30874	447
SYT4	NEFM	P07197	444

IntAct

26 interactions, top by confidence:

A	B	Type	Score
SYT4	SGTA	psi-mi:“MI:0915”(physical association)	0.780
SGTA	SYT4	psi-mi:“MI:0915”(physical association)	0.780
NBR1	SYT4	psi-mi:“MI:0915”(physical association)	0.560
SYT4	NBR1	psi-mi:“MI:0915”(physical association)	0.560
SGTB	SYT4	psi-mi:“MI:0915”(physical association)	0.560
SYT4	NDUFA12	psi-mi:“MI:0915”(physical association)	0.560
SYT4	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400
SYT4		psi-mi:“MI:0915”(physical association)	0.370
CACNA1C	IGLL5	psi-mi:“MI:0914”(association)	0.350
CACNA1C	CACNB4	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
SYT4	SGTA	psi-mi:“MI:0915”(physical association)	0.000
SYT4	NBR1	psi-mi:“MI:0915”(physical association)	0.000
SYT4	SGTB	psi-mi:“MI:0915”(physical association)	0.000
SYT4	NDUFA12	psi-mi:“MI:0915”(physical association)	0.000
BRWD1	SYT4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): SYT4 (Two-hybrid), SYT4 (Two-hybrid), SYT4 (Two-hybrid), SYT4 (Affinity Capture-MS), SYT4 (Two-hybrid), NDUFA12 (Two-hybrid), NBR1 (Two-hybrid), SGTB (Two-hybrid), SYT4 (Proximity Label-MS), SYNCRIP (Reconstituted Complex), SYT4 (Proximity Label-MS), SYT4 (Two-hybrid), SYT4 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A075F932, A1ZBD6, K8FE10, O08835, P05130, P13677, P13678, P21521, P21579, P21707, P23678, P24505, P24506, P24507, P29101, P34693, P34722, P35991, P40749, P41823, P46096, P46097, P47191, P48018, P50232, P51813, P70169, P70610, P70611, P97610, Q06187, Q06846, Q14184, Q16975, Q5M7N9, Q5R4J5, Q60HC0, Q69ZN7, Q7TNF0, Q7ZWU7

Diamond homologs: A0A075F932, A0FGR8, A4IJ05, K8FE10, O00445, O00750, O08625, O08835, O35681, O43581, P04409, P05128, P05129, P05130, P05696, P10102, P10829, P13677, P17252, P20444, P21521, P21579, P21707, P24505, P24506, P24507, P29101, P34693, P40748, P40749, P41823, P41885, P46096, P46097, P47191, P47708, P47709, P47861, P48018, P50232

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MAPK8	“up-regulates activity”	SYT4	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

366 predictions. Top by Δscore:

Variant	Effect	Δscore
18:43271706:TCTTA:T	donor_loss	1.0000
18:43271707:CTTA:C	donor_loss	1.0000
18:43271708:TTACC:T	donor_loss	1.0000
18:43271709:TACCT:T	donor_loss	1.0000
18:43271710:A:T	donor_loss	1.0000
18:43271828:GACTT:G	acceptor_gain	1.0000
18:43271830:CTT:C	acceptor_gain	1.0000
18:43271831:TT:T	acceptor_gain	1.0000
18:43271831:TTC:T	acceptor_loss	1.0000
18:43271832:TC:T	acceptor_loss	1.0000
18:43271833:C:A	acceptor_loss	1.0000
18:43271833:C:CC	acceptor_gain	1.0000
18:43271834:T:G	acceptor_loss	1.0000
18:43271836:C:CT	acceptor_gain	1.0000
18:43273662:T:TA	donor_gain	1.0000
18:43273663:C:A	donor_gain	1.0000
18:43277246:A:AC	donor_gain	1.0000
18:43277247:C:CC	donor_gain	1.0000
18:43270646:GATC:G	acceptor_loss	0.9900
18:43270648:TCTG:T	acceptor_loss	0.9900
18:43270649:C:CC	acceptor_gain	0.9900
18:43270649:CTG:C	acceptor_loss	0.9900
18:43270650:T:C	acceptor_loss	0.9900
18:43271829:ACTTC:A	acceptor_gain	0.9900
18:43271830:CTTCT:C	acceptor_gain	0.9900
18:43271837:A:T	acceptor_gain	0.9900
18:43272717:ATT:A	donor_gain	0.9900
18:43273584:A:C	donor_gain	0.9900
18:43273770:T:C	donor_gain	0.9900
18:43277244:TTA:T	donor_loss	0.9900

AlphaMissense

2792 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:43270362:C:A	W419C	1.000
18:43270362:C:G	W419C	1.000
18:43270364:A:G	W419R	1.000
18:43270364:A:T	W419R	1.000
18:43270404:C:A	W405C	1.000
18:43270404:C:G	W405C	1.000
18:43270406:A:G	W405R	1.000
18:43270406:A:T	W405R	1.000
18:43270558:A:G	F354S	1.000
18:43270591:G:A	T343I	1.000
18:43270639:A:T	V327D	1.000
18:43271759:A:T	V308D	1.000
18:43271771:A:G	L304P	1.000
18:43271798:A:G	L295P	1.000
18:43271807:A:G	L292P	1.000
18:43273665:C:T	G255E	1.000
18:43273666:C:A	G255W	1.000
18:43273694:A:C	F245L	1.000
18:43273694:A:T	F245L	1.000
18:43273696:A:G	F245L	1.000
18:43273806:G:A	T208I	1.000
18:43273914:A:T	V172D	1.000
18:43270363:C:G	W419S	0.999
18:43270369:G:T	A417D	0.999
18:43270405:C:G	W405S	0.999
18:43270453:C:T	G389E	0.999
18:43270492:A:T	V376D	0.999
18:43270504:A:T	V372D	0.999
18:43270539:A:C	F360L	0.999
18:43270539:A:T	F360L	0.999

dbSNP variants (sampled 300 via entrez): RS1000122280 (18:43275611 C>A,G), RS1000141691 (18:43272358 C>G), RS1000616580 (18:43272078 A>T), RS1000649872 (18:43277415 A>G), RS1001336951 (18:43273524 C>A,G,T), RS1001409649 (18:43272881 C>T), RS1001463077 (18:43279405 G>A), RS1002185833 (18:43279147 A>C), RS1003190275 (18:43277813 G>A), RS1003222939 (18:43278172 G>A,C), RS1003299329 (18:43271026 G>A,T), RS1003376876 (18:43269589 G>A,T), RS1003411786 (18:43268387 G>A,T), RS1003490497 (18:43275519 T>A), RS1003970321 (18:43275152 T>C)

Disease associations

OMIM: gene MIM:600103 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST001126_6	Parkinson’s disease	2.000000e-07
GCST002379_5	Pyoderma gangrenosum in inflammatory bowel disease	2.000000e-06
GCST002783_143	Body mass index	1.000000e-06
GCST002783_330	Body mass index	8.000000e-07
GCST004750_14	Squamous cell lung carcinoma	8.000000e-06
GCST004902_12	Parkinson’s disease	6.000000e-16
GCST004904_196	Body mass index	1.000000e-09
GCST004904_246	Body mass index	7.000000e-09
GCST006099_3	Accelerometer-based physical activity measurement (average acceleration)	2.000000e-09
GCST006284_17	Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease	3.000000e-07
GCST006284_9	Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease	5.000000e-06
GCST006912_4	Physical activity (overall physical activity time)	2.000000e-09
GCST006915_2	Physical activity (moderate intensity activity duration)	8.000000e-06
GCST007095_60	Systolic blood pressure	9.000000e-08
GCST007096_177	Pulse pressure	2.000000e-16
GCST007097_42	Pulse pressure	2.000000e-08
GCST007097_43	Pulse pressure	1.000000e-10
GCST007099_42	Systolic blood pressure	3.000000e-12
GCST008526_14	Coffee consumption	1.000000e-06
GCST009391_1603	Metabolite levels	3.000000e-06
GCST009391_639	Metabolite levels	3.000000e-06
GCST009391_641	Metabolite levels	4.000000e-06
GCST010121_12	Ceramide levels (C24:0)	8.000000e-08
GCST010151_30	Carotid intima media thickness x smoking interaction	8.000000e-07
GCST012189_17	Systolic blood pressure and diastolic blood pressure (bivariate analysis)	9.000000e-06

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0006835	pyoderma gangrenosum
EFO:0004340	body mass index
EFO:0008002	physical activity measurement
EFO:0006899	PCSK9 protein measurement
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006781	coffee consumption measurement
EFO:0010377	phosphatidylcholine 34:3 measurement
EFO:0010504	inositol measurement
EFO:0006527	smoking status measurement
EFO:0006336	diastolic blood pressure

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
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	6
Vorinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
bisphenol A	affects cotreatment, decreases methylation	1
trichostatin A	increases expression	1
sodium arsenite	affects cotreatment, decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
beta-methylcholine	affects expression	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
dorsomorphin	affects cotreatment, increases expression	1
Venlafaxine Hydrochloride	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Lead	affects expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Oxygen	increases expression	1
Thalidomide	increases expression	1
Tretinoin	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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