SCAMP5

Summary

SCAMP5 (secretory carrier membrane protein 5, HGNC:30386) is a protein-coding gene on chromosome 15q24.2, encoding Secretory carrier-associated membrane protein 5 (Q8TAC9). Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5.

Involved in positive regulation of cytokine production; regulation of vesicle-mediated transport; and response to endoplasmic reticulum stress. Located in Golgi apparatus; plasma membrane; and recycling endosome membrane.

Source: NCBI Gene 192683 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 15
• Clinical variants (ClinVar): 34 total
• MANE Select transcript: NM_138967

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30386
Approved symbol	SCAMP5
Name	secretory carrier membrane protein 5
Location	15q24.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC24969
Ensembl gene	ENSG00000198794
Ensembl biotype	protein_coding
OMIM	613766
Entrez	192683

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 27 protein_coding, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000361900, ENST00000425597, ENST00000562212, ENST00000562327, ENST00000562765, ENST00000564141, ENST00000564491, ENST00000564779, ENST00000565923, ENST00000565989, ENST00000566872, ENST00000567529, ENST00000567535, ENST00000567920, ENST00000568018, ENST00000568081, ENST00000568119, ENST00000568423, ENST00000872262, ENST00000872263, ENST00000872264, ENST00000872265, ENST00000872266, ENST00000912840, ENST00000912841, ENST00000912842, ENST00000912843, ENST00000912844, ENST00000912845, ENST00000912846, ENST00000912847, ENST00000912848, ENST00000912849, ENST00000912850

RefSeq mRNA: 3 — MANE Select: NM_138967 NM_001178111, NM_001178112, NM_138967

CCDS: CCDS45306

Canonical transcript exons

ENST00000425597 — 7 exons

Exon	Start	End
ENSE00001361026	75018789	75021495
ENSE00001421448	74995563	74995673
ENSE00003477588	75011792	75011846
ENSE00003627653	75012677	75012805
ENSE00003635052	75018418	75018535
ENSE00003647976	75017870	75017971
ENSE00003788453	75016593	75016749

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 98.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.3159 / max 548.4136, expressed in 1268 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147746	21.0219	1242
147744	0.3308	221
147752	0.3128	135
147745	0.1951	94
147755	0.1925	90
147754	0.1564	81
147749	0.0638	3
147750	0.0288	4
147751	0.0138	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.79	gold quality
cerebellar hemisphere	UBERON:0002245	98.72	gold quality
cerebellar cortex	UBERON:0002129	98.69	gold quality
right frontal lobe	UBERON:0002810	98.64	gold quality
prefrontal cortex	UBERON:0000451	98.18	gold quality
anterior cingulate cortex	UBERON:0009835	97.84	gold quality
cingulate cortex	UBERON:0003027	97.82	gold quality
cerebellum	UBERON:0002037	97.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.65	gold quality
cortical plate	UBERON:0005343	97.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.37	gold quality
frontal cortex	UBERON:0001870	97.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	97.13	gold quality
neocortex	UBERON:0001950	96.93	gold quality
nucleus accumbens	UBERON:0001882	96.53	gold quality
amygdala	UBERON:0001876	96.34	gold quality
islet of Langerhans	UBERON:0000006	96.22	gold quality
cerebral cortex	UBERON:0000956	95.96	gold quality
caudate nucleus	UBERON:0001873	95.95	gold quality
adenohypophysis	UBERON:0002196	95.71	gold quality
telencephalon	UBERON:0001893	95.38	gold quality
body of pancreas	UBERON:0001150	95.33	gold quality
frontal pole	UBERON:0002795	95.33	gold quality
paraflocculus	UBERON:0005351	95.29	gold quality
hypothalamus	UBERON:0001898	95.26	gold quality
cerebellar vermis	UBERON:0004720	95.26	gold quality
putamen	UBERON:0001874	95.19	gold quality
forebrain	UBERON:0001890	95.19	gold quality
brain	UBERON:0000955	95.05	gold quality
central nervous system	UBERON:0001017	94.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	326.82
E-MTAB-8498	yes	12.09
E-GEOD-84465	yes	6.86
E-ANND-3	yes	6.41
E-MTAB-6678	yes	4.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

107 targeting SCAMP5, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-2110	99.96	66.68	1930
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-6739-5P	99.80	67.87	2806

Literature-anchored findings (GeneRIF, showing 8)

• SCAMP5 is involved in calcium-regulated exocytosis of signal peptide-containing cytokines, in cooperation with the SNARE machinery of secretory vesicles. (PMID:19234194)
• exposure to ER stress increases SCAMP5 in the striatum, which positively regulates mtHTT aggregation via the endocytosis pathway (PMID:19240033)
• scanp5 is predicted to play a role in neuronal vesicle trafficking and be involed in autism (PMID:20071347)
• work shows that dysfunction of SCAMP5 shifted the excitation/inhibition balance of the neuronal network in the brain, and the deficiency of SCAMP5 leads to pediatric epilepsy. (PMID:32020363)
• SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses. (PMID:33372133)
• SCAMP2/5 as diagnostic and prognostic markers for acute myeloid leukemia. (PMID:34426610)
• Investigations into SCAMP5, a candidate lupus risk gene expressed in plasmacytoid dendritic cells. (PMID:34728555)
• Activation-induced colocalisation of SCAMP5 with IFNalpha in human plasmacytoid dendritic cells. (PMID:35296555)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	scamp5a	ENSDARG00000018743
danio_rerio	scamp5b	ENSDARG00000040274
mus_musculus	Scamp5	ENSMUSG00000040722
rattus_norvegicus	Scamp5	ENSRNOG00000054008
drosophila_melanogaster	Scamp	FBGN0040285
caenorhabditis_elegans	scm-1	WBGENE00004743

Paralogs (4): SCAMP1 (ENSG00000085365), SCAMP3 (ENSG00000116521), SCAMP2 (ENSG00000140497), SCAMP4 (ENSG00000227500)

Protein

Protein identifiers

Secretory carrier-associated membrane protein 5 — Q8TAC9 (reviewed: Q8TAC9)

All UniProt accessions (11): Q8TAC9, A0A0A8K8F5, H3BMY4, H3BNB3, H3BNH7, H3BNW6, H3BP89, H3BS22, H3BT30, H3BTD1, H3BU33

UniProt curated annotations — full annotation on UniProt →

Function. Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway.

Subunit / interactions. Interacts (via C-terminal part) with SYT1 and SYT2; interaction with synaptotagmins making a link with the SNARE molecules. Interacts with SLC9A7.

Subcellular location. Cell membrane. Golgi apparatus membrane. Golgi apparatus. trans-Golgi network membrane. Recycling endosome membrane. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane.

Tissue specificity. Expressed both by neuronal and non-neuronal tissues. Expressed in brain, stomach, thyroid, spinal cord, lymph node, trachea, adrenal gland, bone marrow and in the different parts of brain. In thyroid tissues, it is expressed by the follicular epithelial cells. In the adrenal gland tissues it is detected in the zona fasciculata of the cortex region (at protein level).

Induction. By endoplasmic reticulum stress.

Similarity. Belongs to the SCAMP family. SCAMP5 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TAC9-1	1	yes
Q8TAC9-2	2
Q8TAC9-3	3

RefSeq proteins (3): NP_001171582, NP_001171583, NP_620417* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007273	SCAMP	Family

Pfam: PF04144

UniProt features (12 total): topological domain 5, transmembrane region 4, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAC9-F1	86.48	0.62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 246 (showing top): ATF_B, FXR_IR1_Q6, MODULE_52, GCM_MAP4K4, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, MODULE_45, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS, AP4_Q6, CREBP1_Q2, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (6): positive regulation of cytokine production (GO:0001819), exocytosis (GO:0006887), protein transport (GO:0015031), response to endoplasmic reticulum stress (GO:0034976), negative regulation of endocytosis (GO:0045806), positive regulation of calcium ion-dependent exocytosis (GO:0045956)

GO Molecular Function (2): protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (10): Golgi membrane (GO:0000139), plasma membrane (GO:0005886), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), trans-Golgi network membrane (GO:0032588), recycling endosome membrane (GO:0055038), endosome (GO:0005768), Golgi apparatus (GO:0005794), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
endomembrane system	2
cytoplasm	2
cytokine production	1
regulation of cytokine production	1
positive regulation of gene expression	1
positive regulation of multicellular organismal process	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
cellular response to stress	1
endocytosis	1
regulation of endocytosis	1
negative regulation of transport	1
negative regulation of cellular component organization	1
calcium-ion regulated exocytosis	1
regulation of calcium ion-dependent exocytosis	1
positive regulation of regulated secretory pathway	1
Golgi apparatus	1
bounding membrane of organelle	1
membrane	1
cell periphery	1
cellular anatomical structure	1
synaptic vesicle	1
exocytic vesicle membrane	1
trans-Golgi network	1
organelle membrane	1
endosome membrane	1
recycling endosome	1
cytoplasmic vesicle	1
intracellular membrane-bounded organelle	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

694 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCAMP5	RPP25	Q9BUL9	672
SCAMP5	SYT1	P21579	568
SCAMP5	CLK3	P49761	482
SCAMP5	APBA2	Q99767	469
SCAMP5	SV2A	Q7L0J3	460
SCAMP5	PPCDC	Q96CD2	450
SCAMP5	KLC2	Q9H0B6	443
SCAMP5	CNTNAP1	P78357	429
SCAMP5	RAB3C	Q96E17	416
SCAMP5	ZNF628	Q5EBL2	415
SCAMP5	CAMK2N1	Q7Z7J9	409
SCAMP5	PRMT2IP	Q6ZRI6	400
SCAMP5	KIAA0408	Q6ZU52	394
SCAMP5	TMEM230	Q96A57	372
SCAMP5	LMAN1L	Q9HAT1	370
SCAMP5	HGH1	P0CB43	370

IntAct

67 interactions, top by confidence:

A	B	Type	Score
SCAMP5	MUC1	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
TTPA	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	TMX2	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	FATE1	psi-mi:“MI:0915”(physical association)	0.560
AQP6	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
MUC1	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
SHISAL1	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
SLC10A6	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	PITPNC1	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	SH3GL1	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	CERS4	psi-mi:“MI:0915”(physical association)	0.560
HSD17B13	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	TLCD4	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	TIMMDC1	psi-mi:“MI:0915”(physical association)	0.560
PIGP	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
GDNF	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
ARFIP2	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
SGPL1	SCAMP5	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
SCAMP5	Syt1	psi-mi:“MI:0915”(physical association)	0.520
SCAMP5	Syt2	psi-mi:“MI:0915”(physical association)	0.520
SLC9A7	SCAMP5	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (24): SCAMP5 (Affinity Capture-MS), SCAMP5 (Two-hybrid), DNAJC5 (FRET), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid), SCAMP5 (Two-hybrid)

ESM2 similar proteins: A1CKG4, A1D708, A2XSY1, A4R2N5, A6QRX6, A6RRF7, A7EMV1, B0XXU1, B2AR67, O46521, O95214, O95807, P13498, P52650, Q0CNZ5, Q0JDK9, Q0V0G4, Q17QF8, Q1E1E0, Q28F21, Q2GSS4, Q32PD8, Q39080, Q3ZBX1, Q4WXT2, Q566G2, Q5PQQ4, Q5R5Z8, Q5RDE9, Q61462, Q62737, Q6CC06, Q6GM42, Q6GPA8, Q6P0C7, Q6PDU4, Q7S693, Q8K3C0, Q8TAC9, Q92535

Diamond homologs: O14828, O15126, O15127, O35609, O77735, P56603, Q17QF8, Q28F21, Q58DF6, Q58DR5, Q5R5Z8, Q5RCY9, Q6GM42, Q6GPA8, Q6P0C7, Q8K021, Q8TAC9, Q969E2, Q9ERN0, Q9ET20, Q9JKD3, Q9JKE3, Q9JKV5, Q9LR68, Q0JAI9, Q6Z8F5, Q9SXA5, Q9SKT3, Q9M5P2, Q9C6X2, Q9ZTX0, Q60EA5, A2YMP7, Q75IC7, Q7F613, Q8H5X5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1409 predictions. Top by Δscore:

Variant	Effect	Δscore
15:74995669:GGCAG:G	donor_gain	1.0000
15:74995670:GCAG:G	donor_gain	1.0000
15:74995670:GCAGG:G	donor_gain	1.0000
15:74995674:GTGA:G	donor_loss	1.0000
15:74995675:T:A	donor_loss	1.0000
15:75011791:GTTCA:G	acceptor_gain	1.0000
15:75012675:A:AG	acceptor_gain	1.0000
15:75012676:G:GG	acceptor_gain	1.0000
15:75012676:GA:G	acceptor_gain	1.0000
15:75012676:GAGA:G	acceptor_gain	1.0000
15:75012676:GAGAA:G	acceptor_gain	1.0000
15:75012801:G:GT	donor_gain	1.0000
15:75012801:GATGT:G	donor_gain	1.0000
15:75012802:ATGT:A	donor_gain	1.0000
15:75012803:TGTG:T	donor_loss	1.0000
15:75012804:GT:G	donor_gain	1.0000
15:75012804:GTGTG:G	donor_loss	1.0000
15:75012805:TG:T	donor_loss	1.0000
15:75012806:G:GA	donor_loss	1.0000
15:75012806:G:GG	donor_gain	1.0000
15:75012807:T:G	donor_loss	1.0000
15:75012808:GAGT:G	donor_loss	1.0000
15:75016750:G:GG	donor_gain	1.0000
15:74995674:G:GG	donor_gain	0.9900
15:75011790:A:AG	acceptor_gain	0.9900
15:75011791:G:GA	acceptor_gain	0.9900
15:75011791:GTT:G	acceptor_gain	0.9900
15:75011791:GTTC:G	acceptor_gain	0.9900
15:75011848:T:G	donor_loss	0.9900
15:75012669:A:AG	acceptor_gain	0.9900

AlphaMissense

1574 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:75018422:T:A	W134R	1.000
15:75018422:T:C	W134R	1.000
15:75012691:T:C	F8L	0.999
15:75012693:C:A	F8L	0.999
15:75012693:C:G	F8L	0.999
15:75012799:T:A	W44R	0.999
15:75012799:T:C	W44R	0.999
15:75016618:C:A	N54K	0.999
15:75016618:C:G	N54K	0.999
15:75016630:T:G	C58W	0.999
15:75016685:T:A	W77R	0.999
15:75016685:T:C	W77R	0.999
15:75016706:T:C	C84R	0.999
15:75016718:T:C	C88R	0.999
15:75016721:T:A	W89R	0.999
15:75016721:T:C	W89R	0.999
15:75017889:T:C	F105L	0.999
15:75017891:C:A	F105L	0.999
15:75017891:C:G	F105L	0.999
15:75017898:T:C	F108L	0.999
15:75017900:C:A	F108L	0.999
15:75017900:C:G	F108L	0.999
15:75017949:G:C	G125R	0.999
15:75017964:G:C	G130R	0.999
15:75018419:G:C	G133R	0.999
15:75018420:G:A	G133D	0.999
15:75018805:G:C	R177P	0.999
15:75018886:C:A	A204D	0.999
15:75016625:G:C	G57R	0.998
15:75016628:T:C	C58R	0.998

dbSNP variants (sampled 300 via entrez): RS1000006556 (15:75002373 A>G), RS1000011863 (15:75011151 A>G), RS1000157789 (15:75007906 C>G), RS1000179850 (15:75003113 G>C), RS1000293069 (15:75007632 C>T), RS1000371573 (15:75021038 A>T), RS1000472250 (15:75014128 G>A), RS1000542876 (15:75001978 C>T), RS1000579402 (15:74995567 G>A,C), RS1000620470 (15:75016161 A>G), RS1000648328 (15:75006235 G>T), RS1000674060 (15:75012877 G>T), RS1000728589 (15:75019548 G>A,C), RS1000800713 (15:75014333 G>C), RS1000845156 (15:75019217 C>T)

Disease associations

OMIM: gene MIM:613766 | disease phenotypes: MIM:615637

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant
complex neurodevelopmental disorder	Moderate	Autosomal dominant
epilepsy	Limited	Autosomal recessive

Mondo (4): macrocephaly-developmental delay syndrome (MONDO:0014289), neurodevelopmental disorder (MONDO:0700092), epilepsy (MONDO:0005027), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (1): Macrocephaly-developmental delay syndrome (Orphanet:397612)

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001032_1	Caffeine consumption	6.000000e-07
GCST002040_2	Blood trace element (Zn levels)	2.000000e-18
GCST003155_18	Systemic lupus erythematosus	6.000000e-15
GCST004602_214	Mean corpuscular volume	2.000000e-10
GCST006190_13	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-16
GCST006190_83	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	7.000000e-25
GCST006192_57	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-18
GCST006192_84	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-13
GCST006193_46	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-18
GCST006193_84	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-27
GCST006195_35	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-15
GCST006195_76	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	4.000000e-20
GCST006612_62	LDL cholesterol	8.000000e-10
GCST90002392_434	Mean corpuscular volume	8.000000e-21
GCST90002397_263	Mean spheric corpuscular volume	6.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004330	coffee consumption
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0004611	low density lipoprotein cholesterol measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D004827	Epilepsy	C10.228.140.490
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	2
bisphenol F	increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	decreases expression	1
arsenite	increases methylation	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
perfluorooctanoic acid	decreases expression	1
tobacco tar	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression, affects cotreatment	1
Temozolomide	affects response to substance	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Cadmium	increases expression, increases abundance	1
Carmustine	affects response to substance	1
Cisplatin	affects cotreatment, increases expression	1
Cytarabine	increases expression	1
Lead	affects expression	1
Lipopolysaccharides	affects cotreatment, decreases expression, affects response to substance, increases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00004637	PHASE4	COMPLETED	Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy
NCT00043914	PHASE4	COMPLETED	Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy
NCT00132223	PHASE4	UNKNOWN	Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients
NCT00133081	PHASE4	UNKNOWN	Study to Improve the Treatment of Epilepsy (SITE)
NCT00137709	PHASE4	UNKNOWN	Hormone Profiles in Adults With Newly Diagnosed Epilepsy
NCT00154076	PHASE4	COMPLETED	A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies
NCT00165828	PHASE4	TERMINATED	Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization
NCT00181116	PHASE4	COMPLETED	Levetiracetam for Benign Rolandic Epilepsy
NCT00207935	PHASE4	COMPLETED	Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population
NCT00215592	PHASE4	COMPLETED	Open Label, Zonegran (Zonisamide) In Partial Onset Seizures
NCT00266604	PHASE4	COMPLETED	A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy
NCT00288639	PHASE4	COMPLETED	Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER).
NCT00312676	PHASE4	UNKNOWN	Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote
NCT00323947	PHASE4	COMPLETED	Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy
NCT00385411	PHASE4	COMPLETED	Study of Valproate in Young Patients Suffering From Epilepsy
NCT00522418	PHASE4	TERMINATED	Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients
NCT00537940	PHASE4	COMPLETED	Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures
NCT00552526	PHASE4	UNKNOWN	Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy
NCT00564915	PHASE4	COMPLETED	RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy
NCT00571155	PHASE4	COMPLETED	Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery
NCT00572195	PHASE4	COMPLETED	RNS® System LTT Study
NCT00610532	PHASE4	TERMINATED	Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy
NCT00630357	PHASE4	COMPLETED	Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy
NCT00630630	PHASE4	COMPLETED	Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy
NCT00630968	PHASE4	COMPLETED	S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00631150	PHASE4	COMPLETED	A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00659958	PHASE4	COMPLETED	ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs
NCT00713622	PHASE4	COMPLETED	Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate
NCT00807989	PHASE4	COMPLETED	The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy
NCT00832884	PHASE4	COMPLETED	The Safety of Intravenous Lacosamide
NCT00869622	PHASE4	COMPLETED	Antiepileptic Drugs and Osteoporotic Prevention Trial
NCT00896987	PHASE4	COMPLETED	Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies
NCT00952081	PHASE4	COMPLETED	A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients
NCT01118455	PHASE4	TERMINATED	Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures
NCT01127165	PHASE4	COMPLETED	Low and High Dose Zonisamide in Children as Monotherapy
NCT01127256	PHASE4	COMPLETED	Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation
NCT01140867	PHASE4	COMPLETED	Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy
NCT01175954	PHASE4	COMPLETED	Cognitive and Behavioral Effects of Lacosamide
NCT01229735	PHASE4	COMPLETED	Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures
NCT01244724	PHASE4	TERMINATED	Lexapro for Major Depression in Patients With Epilepsy