MTMR10

Summary

MTMR10 (myotubularin related protein 10, HGNC:25999) is a protein-coding gene on chromosome 15q13.3, encoding Myotubularin-related protein 10 (Q9NXD2).

Predicted to enable phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm.

Source: NCBI Gene 54893 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 129 total — 18 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_017762

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25999
Approved symbol	MTMR10
Name	myotubularin related protein 10
Location	15q13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20313
Ensembl gene	ENSG00000166912
Ensembl biotype	protein_coding
Entrez	54893

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron

ENST00000435680, ENST00000563714, ENST00000564787, ENST00000565728, ENST00000566338, ENST00000566981, ENST00000567567, ENST00000568547, ENST00000568604, ENST00000568611, ENST00000879096, ENST00000879097, ENST00000879098, ENST00000879099, ENST00000879100, ENST00000915121

RefSeq mRNA: 1 — MANE Select: NM_017762 NM_017762

CCDS: CCDS45204

Canonical transcript exons

ENST00000435680 — 16 exons

Exon	Start	End
ENSE00001312110	30967920	30968010
ENSE00002712664	30991447	30991628
ENSE00003481191	30947130	30947300
ENSE00003488607	30959034	30959121
ENSE00003500437	30960881	30961073
ENSE00003511112	30938941	30942072
ENSE00003518958	30954763	30954893
ENSE00003531082	30948302	30948471
ENSE00003538033	30974314	30974456
ENSE00003543567	30942890	30943072
ENSE00003543978	30953562	30953631
ENSE00003590104	30951968	30952038
ENSE00003643355	30976819	30976955
ENSE00003649063	30974931	30975003
ENSE00003659826	30990777	30990837
ENSE00003693623	30958863	30958951

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 97.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.8349 / max 597.0157, expressed in 1811 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149115	15.9086	1783
149117	10.5502	1712
149114	4.3373	1304
149116	0.7386	390
149113	0.2804	108
149112	0.0198	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	97.74	gold quality
inferior vagus X ganglion	UBERON:0005363	97.38	gold quality
spinal cord	UBERON:0002240	97.16	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.10	gold quality
subthalamic nucleus	UBERON:0001906	96.04	gold quality
globus pallidus	UBERON:0001875	95.76	gold quality
medial globus pallidus	UBERON:0002477	95.69	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.54	gold quality
lateral globus pallidus	UBERON:0002476	95.24	gold quality
renal medulla	UBERON:0000362	94.60	gold quality
superior vestibular nucleus	UBERON:0007227	94.46	gold quality
dorsal plus ventral thalamus	UBERON:0001897	94.18	gold quality
tibialis anterior	UBERON:0001385	93.85	gold quality
midbrain	UBERON:0001891	93.80	gold quality
substantia nigra	UBERON:0002038	93.75	gold quality
deltoid	UBERON:0001476	93.74	gold quality
substantia nigra pars compacta	UBERON:0001965	93.61	gold quality
ventral tegmental area	UBERON:0002691	93.61	gold quality
placenta	UBERON:0001987	93.19	gold quality
metanephros cortex	UBERON:0010533	93.11	gold quality
pons	UBERON:0000988	92.59	gold quality
skeletal muscle tissue	UBERON:0001134	91.91	gold quality
quadriceps femoris	UBERON:0001377	91.73	gold quality
gastrocnemius	UBERON:0001388	91.63	gold quality
putamen	UBERON:0001874	91.62	gold quality
muscle of leg	UBERON:0001383	91.46	gold quality
pancreatic ductal cell	CL:0002079	91.43	gold quality
vastus lateralis	UBERON:0001379	91.35	gold quality
adult mammalian kidney	UBERON:0000082	91.32	gold quality
sural nerve	UBERON:0015488	91.10	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

159 targeting MTMR10, 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-340-5P	100.00	72.50	4437
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3148	99.97	75.06	6478

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtmr10	ENSDARG00000010601
mus_musculus	Mtmr10	ENSMUSG00000030522
rattus_norvegicus	Mtmr10	ENSRNOG00000016090
drosophila_melanogaster	mtm	FBGN0025742
drosophila_melanogaster	Sbf	FBGN0025802
drosophila_melanogaster	Mtmr6	FBGN0028497
drosophila_melanogaster	CG14411	FBGN0030582
drosophila_melanogaster	CG3632	FBGN0030735
drosophila_melanogaster	CG5026	FBGN0035945
caenorhabditis_elegans	mtm-1	WBGENE00003475
caenorhabditis_elegans		WBGENE00003476
caenorhabditis_elegans		WBGENE00003477
caenorhabditis_elegans		WBGENE00003478
caenorhabditis_elegans		WBGENE00003479
caenorhabditis_elegans	mtm-10	WBGENE00021683

Paralogs (13): MTMR7 (ENSG00000003987), MTMR11 (ENSG00000014914), MTMR1 (ENSG00000063601), MTMR2 (ENSG00000087053), SBF1 (ENSG00000100241), MTMR3 (ENSG00000100330), MTMR8 (ENSG00000102043), MTMR9 (ENSG00000104643), MTMR4 (ENSG00000108389), SBF2 (ENSG00000133812), MTMR6 (ENSG00000139505), MTMR12 (ENSG00000150712), MTM1 (ENSG00000171100)

Protein

Protein identifiers

Myotubularin-related protein 10 — Q9NXD2 (reviewed: Q9NXD2)

Alternative names: Inactive phosphatidylinositol 3-phosphatase 10

All UniProt accessions (6): Q9NXD2, H3BQP4, H3BQR5, H3BUS9, H3BUZ0, X5D963

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NXD2-1	1	yes
Q9NXD2-2	2
Q9NXD2-3	3

RefSeq proteins (1): NP_060232* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010569	Myotubularin-like_Pase_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR022587	MTMR12-like_C	Domain
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR030564	Myotubularin	Family
IPR030573	MTMR10_PTP	Domain
IPR036004	MTMR10_PH-GRAM	Domain

Pfam: PF06602, PF12578

UniProt features (14 total): splice variant 5, sequence conflict 2, modified residue 2, chain 1, domain 1, sequence variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NXD2-F1	79.94	0.56

Functional residue map

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

Post-translational modifications (2): 607, 751

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1660516	Synthesis of PIPs at the early endosome membrane
R-HSA-1430728	Metabolism
R-HSA-1483255	PI Metabolism
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 183 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, chr15q13, CAGCTG_AP4_Q5, EVI1_05, BERENJENO_TRANSFORMED_BY_RHOA_FOREVER_DN, BERENJENO_TRANSFORMED_BY_RHOA_UP, EVI1_03, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, EVI1_02, ER_Q6_01, PR_01, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, PRC2_EZH2_UP.V1_UP, PRC2_SUZ12_UP.V1_UP, REACTOME_METABOLISM_OF_LIPIDS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
PI Metabolism	1
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

711 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTMR10	FAN1	Q9Y2M0	949
MTMR10	TRPM1	Q7Z4N2	931
MTMR10	OTUD7A	Q8TE49	807
MTMR10	IFT80	Q9P2H3	763
MTMR10	KLF13	Q9Y2Y9	705
MTMR10	ARHGAP11B	Q3KRB8	664
MTMR10	DYNC2H1	Q8NCM8	648
MTMR10	FMN1	Q68DA7	644
MTMR10	GREM1	O60565	565
MTMR10	CHRFAM7A	Q494W8	544
MTMR10	GOLGA8N	F8WBI6	544
MTMR10	MTMR2	Q13614	487
MTMR10	GOLGA8Q	H3BV12	473
MTMR10	RASSF9	O75901	457
MTMR10	MTMR11	A4FU01	449

IntAct

21 interactions, top by confidence:

A	B	Type	Score
MTMR2	CCDC22	psi-mi:“MI:0914”(association)	0.730
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
MTMR10	AATK	psi-mi:“MI:0915”(physical association)	0.370
MTMR10	ERBB3	psi-mi:“MI:0915”(physical association)	0.370
MTMR10	PTK7	psi-mi:“MI:0915”(physical association)	0.370
MTMR10	MEOX2	psi-mi:“MI:0915”(physical association)	0.370
SMAD5	MTMR10	psi-mi:“MI:0915”(physical association)	0.370
MTMR10	SMAD9	psi-mi:“MI:0915”(physical association)	0.370
Mtmr2	SBF1	psi-mi:“MI:0914”(association)	0.350
MTMR2	LUC7L3	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
MTMR10	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SLC18A2	LGALS8	psi-mi:“MI:0914”(association)	0.350
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
	MTMR10	psi-mi:“MI:0915”(physical association)	0.000
DSCAM	MTMR10	psi-mi:“MI:0915”(physical association)	0.000
LCOR	MTMR10	psi-mi:“MI:0915”(physical association)	0.000
NRIP1	MTMR10	psi-mi:“MI:0915”(physical association)	0.000
HUNK	MTMR10	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (52): MTMR10 (Affinity Capture-MS), MTMR10 (Affinity Capture-MS), MTMR10 (Affinity Capture-MS), MTM1 (Affinity Capture-MS), MTMR2 (Affinity Capture-MS), LONP2 (Affinity Capture-MS), TP53RK (Affinity Capture-MS), NMNAT1 (Affinity Capture-MS), OSGEP (Affinity Capture-MS), NUDT16 (Affinity Capture-MS), GADD45GIP1 (Affinity Capture-MS), IDE (Affinity Capture-MS), MTMR10 (Affinity Capture-MS), MTMR10 (Two-hybrid), MTMR10 (Two-hybrid)

ESM2 similar proteins: A0A0G2JXT6, A0JMF6, A0JMK5, A2ALK8, A2BGG1, A6QLT4, A7MB43, G5ED68, O13819, O14830, P26045, P33402, P51432, Q09M05, Q13496, Q13613, Q15111, Q3USB7, Q4KWH5, Q4R6N0, Q4U2V3, Q52KU6, Q5EB32, Q5F452, Q5R6F6, Q5R9S3, Q5U581, Q62688, Q6AXQ4, Q6NU08, Q6TEL0, Q6XPS3, Q7TPM9, Q7ZXF1, Q8K394, Q8NCE2, Q8VE11, Q8VEL2, Q96EF0, Q96MI9

Diamond homologs: A0A0G2JXT6, A0JMK5, A2BGG1, A4FU01, A6QLT2, A6QLT4, A7MB43, E9PXF8, F4J3T8, F4JWB3, G5ED68, O13819, P47147, Q13496, Q13613, Q13614, Q13615, Q22712, Q2KJ24, Q3V1L6, Q52KU6, Q54GQ1, Q55E58, Q5EB32, Q5F452, Q5PQT2, Q5R6F6, Q5R9S3, Q5REB9, Q5U581, Q5ZIV1, Q6AXQ4, Q6NTN5, Q6NU08, Q6TEL0, Q7TPM9, Q7ZXF1, Q80TA6, Q8K296, Q8VE11

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	18
Likely pathogenic	1
Uncertain significance	80
Likely benign	3
Benign	5

Top pathogenic / likely-pathogenic (19)

Variant ID	HGVS	Classification
1072397	NC_000015.9:g.(?31196867)(32404120_?)del	Pathogenic
1705943	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x1	Pathogenic
1711395	GRCh37/hg19 15q13.2-13.3(chr15:30898046-32691186)x1	Pathogenic
1807850	GRCh37/hg19 15q13.2-13.3(chr15:30370018-32446830)x1	Pathogenic
21009	15q13.3	Pathogenic
2582942	GRCh37/hg19 15q13.2-13.3(chr15:30850147-32404100)x1	Pathogenic
37100	NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs)	Pathogenic
3770230	GRCh37/hg19 15q13.2-13.3(chr15:31100000-32500000)x1	Pathogenic
4022066	NM_014967.5(FAN1):c.2421del (p.Thr808fs)	Pathogenic
503579	GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x1	Pathogenic
564178	GRCh37/hg19 15q13.2-13.3(chr15:30769995-32701482)x1	Pathogenic
564183	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x1	Pathogenic
564184	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1	Pathogenic
625720	GRCh37/hg19 15q13.2-13.3(chr15:30950529-32514341)	Pathogenic
685352	GRCh37/hg19 15q13.2-13.3(chr15:31103537-32444261)x3	Pathogenic
979413	GRCh37/hg19 15q13.1-13.3(chr15:28915863-32446830)x1	Pathogenic
997069	GRCh37/hg19 15q13.2-13.3(chr15:30652489-32438943)	Pathogenic
997079	GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863)	Pathogenic
223109	NC_000015.9:g.(?30941572)(32509926_?)del	Likely pathogenic

SpliceAI

2891 predictions. Top by Δscore:

Variant	Effect	Δscore
15:30947124:GCTT:G	donor_loss	1.0000
15:30947125:CTTAC:C	donor_loss	1.0000
15:30947126:TTAC:T	donor_loss	1.0000
15:30947127:TACC:T	donor_loss	1.0000
15:30947128:A:AC	donor_gain	1.0000
15:30947128:A:T	donor_loss	1.0000
15:30947128:AC:A	donor_gain	1.0000
15:30947129:C:CC	donor_gain	1.0000
15:30947129:C:T	donor_loss	1.0000
15:30947129:CC:C	donor_gain	1.0000
15:30947129:CCGTG:C	donor_gain	1.0000
15:30947296:GGAGA:G	acceptor_gain	1.0000
15:30947297:GAGA:G	acceptor_gain	1.0000
15:30947298:AGA:A	acceptor_gain	1.0000
15:30947299:GA:G	acceptor_gain	1.0000
15:30947300:AC:A	acceptor_loss	1.0000
15:30947301:C:CC	acceptor_gain	1.0000
15:30947305:CAAA:C	acceptor_gain	1.0000
15:30947308:A:AC	acceptor_gain	1.0000
15:30947308:A:C	acceptor_gain	1.0000
15:30948472:C:CC	acceptor_gain	1.0000
15:30953561:C:CG	donor_loss	1.0000
15:30953628:GGCT:G	acceptor_gain	1.0000
15:30953629:GCTC:G	acceptor_loss	1.0000
15:30953630:CT:C	acceptor_gain	1.0000
15:30953630:CTCT:C	acceptor_loss	1.0000
15:30953631:TCTGT:T	acceptor_loss	1.0000
15:30953632:C:CC	acceptor_gain	1.0000
15:30953632:CT:C	acceptor_loss	1.0000
15:30953633:T:A	acceptor_loss	1.0000

AlphaMissense

5121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:30948364:A:G	W439R	0.999
15:30948364:A:T	W439R	0.999
15:30960924:A:G	W239R	0.999
15:30960924:A:T	W239R	0.999
15:30960960:A:G	W227R	0.999
15:30960960:A:T	W227R	0.999
15:30967992:G:C	H165D	0.999
15:30976874:A:G	L68P	0.999
15:30976880:C:T	G66E	0.999
15:30976881:C:G	G66R	0.999
15:30976881:C:T	G66R	0.999
15:30943009:A:G	W538R	0.998
15:30943009:A:T	W538R	0.998
15:30958948:A:G	W284R	0.998
15:30958948:A:T	W284R	0.998
15:30974351:A:G	F146S	0.998
15:30976867:G:C	C70W	0.998
15:30976869:A:G	C70R	0.998
15:30976880:C:A	G66V	0.998
15:30976925:A:T	V51E	0.998
15:30953578:A:G	W374R	0.997
15:30953578:A:T	W374R	0.997
15:30960917:A:T	V241D	0.997
15:30967994:G:T	A164D	0.997
15:30967997:A:T	I163K	0.997
15:30968007:A:G	C160R	0.997
15:30974387:A:G	L134S	0.997
15:30976847:A:G	F77S	0.997
15:30976874:A:C	L68R	0.997
15:30976874:A:T	L68Q	0.997

dbSNP variants (sampled 300 via entrez): RS1000095669 (15:30982693 TTAAG>T), RS1000097187 (15:30942193 T>C), RS1000128511 (15:30953054 T>G), RS1000206605 (15:30936978 C>T), RS1000262174 (15:30976723 T>C), RS1000334425 (15:30963613 A>G), RS1000348862 (15:30972647 C>A), RS1000380068 (15:30972361 T>A), RS1000429319 (15:30963435 C>T), RS1000431078 (15:30925540 C>T), RS1000470809 (15:30935043 C>A,T), RS1000472771 (15:30936915 C>T), RS1000487265 (15:30932775 G>A), RS1000500956 (15:30953364 T>G), RS1000517937 (15:30932551 G>A,C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:612001, MIM:614817

GenCC curated gene-disease

Mondo (6): chromosome 15q13.3 microdeletion syndrome (MONDO:0012774), epilepsy (MONDO:0005027), autism spectrum disorder (MONDO:0005258), karyomegalic interstitial nephritis (MONDO:0013898), hereditary breast ovarian cancer syndrome (MONDO:0003582), intellectual disability (MONDO:0001071)

Orphanet (5): 15q13.3 microdeletion syndrome (Orphanet:199318), Karyomegalic interstitial nephritis (Orphanet:401996), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001905_9	Hypertriglyceridemia	6.000000e-06
GCST004691_16	Huntington’s disease progression	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0008336	disease progression measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D004827	Epilepsy	C10.228.140.490
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C567439	Chromosome 15q13.3 Microdeletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
bisphenol A	affects expression, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	decreases expression	1
coumarin	increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
Temozolomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Dexamethasone	increases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
beta-Naphthoflavone	decreases expression	1

Clinical trials (associated diseases)

300 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