ANO4

Summary

ANO4 (anoctamin 4, HGNC:23837) is a protein-coding gene on chromosome 12q23.1, encoding Anoctamin-4 (Q32M45). Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide.

Enables intracellularly calcium-gated chloride channel activity. Involved in chloride transmembrane transport. Located in plasma membrane.

Source: NCBI Gene 121601 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 8
• Clinical variants (ClinVar): 114 total — 6 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001286615

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23837
Approved symbol	ANO4
Name	anoctamin 4
Location	12q23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ34221, FLJ34272, FLJ35277
Ensembl gene	ENSG00000151572
Ensembl biotype	protein_coding
OMIM	610111
Entrez	121601

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 14 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000392977, ENST00000392979, ENST00000546991, ENST00000548940, ENST00000549155, ENST00000549234, ENST00000550015, ENST00000551148, ENST00000644049, ENST00000852680, ENST00000852681, ENST00000852682, ENST00000852683, ENST00000852684, ENST00000852685, ENST00000922750, ENST00000922751, ENST00000956090, ENST00000956092

RefSeq mRNA: 3 — MANE Select: NM_001286615 NM_001286615, NM_001286616, NM_178826

CCDS: CCDS31884, CCDS66445

Canonical transcript exons

ENST00000392977 — 28 exons

Exon	Start	End
ENSE00001100559	101086660	101086824
ENSE00001100577	101083678	101083818
ENSE00001100580	101094256	101094292
ENSE00001271888	101120520	101120625
ENSE00001271894	101110404	101110556
ENSE00001271959	101116679	101116798
ENSE00001271968	101111563	101111710
ENSE00001271985	101099578	101099720
ENSE00001271996	101097848	101097945
ENSE00001272008	101097651	101097708
ENSE00001272180	101126879	101127074
ENSE00001389998	101079193	101079275
ENSE00001595846	101096536	101096647
ENSE00002345969	100794776	100795027
ENSE00003486098	100974845	100974889
ENSE00003502964	101037095	101037150
ENSE00003509128	101020034	101020140
ENSE00003546307	100942377	100942535
ENSE00003548950	101039955	101040076
ENSE00003555823	101042334	101042468
ENSE00003604640	100971306	100971406
ENSE00003611722	100922226	100922330
ENSE00003630456	100901646	100901840
ENSE00003639817	101043539	101043635
ENSE00003642831	101048341	101048401
ENSE00003654070	100939315	100939451
ENSE00003664280	100987539	100987670
ENSE00003846046	101127861	101128629

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 93.65.

FANTOM5 (CAGE): breadth broad, TPM avg 3.7008 / max 217.0966, expressed in 564 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127598	0.7391	163
127592	0.5733	154
127587	0.4530	219
127599	0.3879	149
127596	0.3244	150
127588	0.2693	147
127586	0.2478	119
127597	0.2120	126
127595	0.1789	109
127593	0.1319	77

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	93.65	gold quality
cortical plate	UBERON:0005343	88.15	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.15	gold quality
stromal cell of endometrium	CL:0002255	83.69	gold quality
prefrontal cortex	UBERON:0000451	83.21	gold quality
Ammon’s horn	UBERON:0001954	82.86	gold quality
primary visual cortex	UBERON:0002436	82.45	gold quality
frontal cortex	UBERON:0001870	81.92	gold quality
superior frontal gyrus	UBERON:0002661	81.27	gold quality
putamen	UBERON:0001874	81.18	gold quality
substantia nigra	UBERON:0002038	81.15	gold quality
temporal lobe	UBERON:0001871	81.05	gold quality
amygdala	UBERON:0001876	80.94	gold quality
cerebral cortex	UBERON:0000956	80.93	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.77	gold quality
right frontal lobe	UBERON:0002810	80.01	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	79.73	gold quality
hypothalamus	UBERON:0001898	79.59	gold quality
anterior cingulate cortex	UBERON:0009835	78.64	gold quality
caudate nucleus	UBERON:0001873	77.85	gold quality
brain	UBERON:0000955	77.37	gold quality
right adrenal gland cortex	UBERON:0035827	76.73	gold quality
right adrenal gland	UBERON:0001233	76.44	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.28	gold quality
left adrenal gland cortex	UBERON:0035825	75.76	gold quality
endometrium	UBERON:0001295	75.75	gold quality
adrenal gland	UBERON:0002369	75.70	gold quality
left adrenal gland	UBERON:0001234	75.21	gold quality
nucleus accumbens	UBERON:0001882	74.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting ANO4, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-381-3P	99.93	71.87	2854

Literature-anchored findings (GeneRIF, showing 4)

• Anoctamin-4 is a bona fide Ca(2+)-dependent non-selective cation channel. (PMID:30783137)
• ANO4 is one of the most highly expressed genes in the adrenal zona glomerulosa. It attenuates stimulated aldosterone secretion and cell proliferation. (PMID:31564164)
• Prediction of Functional Consequences of Missense Mutations in ANO4 Gene. (PMID:33800471)
• Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect. (PMID:38744284)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ano4	ENSMUSG00000035189
rattus_norvegicus	Ano4	ENSRNOG00000006841

Paralogs (10): ANO2 (ENSG00000047617), ANO8 (ENSG00000074855), PPP1R7 (ENSG00000115685), ANO1 (ENSG00000131620), ANO3 (ENSG00000134343), ANO7 (ENSG00000146205), ANO10 (ENSG00000160746), ANO5 (ENSG00000171714), ANO6 (ENSG00000177119), ANO9 (ENSG00000185101)

Protein

Protein identifiers

Anoctamin-4 — Q32M45 (reviewed: Q32M45)

Alternative names: Transmembrane protein 16D

All UniProt accessions (4): Q32M45, A0A2R8Y532, F8VUH1, F8VW62

UniProt curated annotations — full annotation on UniProt →

Function. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity.

Subcellular location. Cell membrane.

Miscellaneous. The term ‘anoctamin’ was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.

Similarity. Belongs to the anoctamin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q32M45-1	1	yes
Q32M45-2	2
Q32M45-3	3

RefSeq proteins (3): NP_001273544, NP_001273545, NP_849148 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007632	Anoctamin	Family
IPR032394	Anoct_dimer	Domain
IPR049452	Anoctamin_TM	Domain

Pfam: PF04547, PF16178

Catalyzed reactions (Rhea), 3 shown:

• a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
• a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:38663)
• a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine(out) = a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine(in) (RHEA:38899)

UniProt features (28 total): topological domain 9, transmembrane region 8, glycosylation site 4, splice variant 3, chain 1, region of interest 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q32M45-F1	79.27	0.35

Functional residue map

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

Glycosylation sites (4): 83, 105, 257, 288

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-2672351	Stimuli-sensing channels
R-HSA-9733458	Induction of Cell-Cell Fusion
R-HSA-1643685	Disease
R-HSA-382551	Transport of small molecules
R-HSA-5663205	Infectious disease
R-HSA-9679506	SARS-CoV Infections
R-HSA-9694516	SARS-CoV-2 Infection
R-HSA-9772573	Late SARS-CoV-2 Infection Events
R-HSA-9824446	Viral Infection Pathways
R-HSA-983712	Ion channel transport

MSigDB gene sets: 120 (showing top): AAGCCAT_MIR135A_MIR135B, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_INORGANIC_ANION_TRANSPORT, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_CHLORIDE_TRANSPORT, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, ACATATC_MIR190, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_PHOSPHOLIPID_TRANSPORT, TAATGTG_MIR323, GOBP_MEMBRANE_ORGANIZATION, GOBP_LIPID_LOCALIZATION, GOBP_TRANSMEMBRANE_TRANSPORT

GO Biological Process (7): monoatomic ion transmembrane transport (GO:0034220), establishment of localization in cell (GO:0051649), calcium activated phosphatidylserine scrambling (GO:0061589), calcium activated phosphatidylcholine scrambling (GO:0061590), calcium activated galactosylceramide scrambling (GO:0061591), chloride transmembrane transport (GO:1902476), lipid transport (GO:0006869)

GO Molecular Function (4): intracellularly calcium-gated chloride channel activity (GO:0005229), chloride channel activity (GO:0005254), phospholipid scramblase activity (GO:0017128), protein dimerization activity (GO:0046983)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Ion channel transport	1
Late SARS-CoV-2 Infection Events	1
Disease	1
Viral Infection Pathways	1
SARS-CoV Infections	1
SARS-CoV-2 Infection	1
Infectious disease	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
calcium activated phospholipid scrambling	3
monoatomic ion transport	1
transmembrane transport	1
establishment of localization	1
cellular localization	1
chloride transport	1
monoatomic anion transmembrane transport	1
transport	1
lipid localization	1
chloride channel activity	1
ligand-gated monoatomic anion channel activity	1
intracellularly calcium-gated channel activity	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
plasma membrane phospholipid scrambling	1
intramembrane lipid carrier activity	1
protein binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

638 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANO4	SLC17A8	Q8NDX2	779
ANO4	ACOT7	O00154	510
ANO4	MCTP2	Q6DN12	500
ANO4	ASCL1	P50553	497
ANO4	ARHGEF33	A8MVX0	485
ANO4	ZNF592	Q92610	438
ANO4	FGFBP3	Q8TAT2	436
ANO4	OR6C75	A6NL08	435
ANO4	CLCA2	Q9UQC9	432
ANO4	CDC42BPB	Q9Y5S2	418
ANO4	USP31	Q70CQ4	410
ANO4	XKR8	Q9H6D3	400
ANO4	CLCA4	Q14CN2	399
ANO4	SNAP25	P13795	396
ANO4	CLCA1	A8K7I4	391

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PWP2	FBL	psi-mi:“MI:0914”(association)	0.610
ANO4	ANO6	psi-mi:“MI:0914”(association)	0.530
ANO4	H3-4	psi-mi:“MI:0915”(physical association)	0.400
NCBP3	RSL1D1	psi-mi:“MI:0914”(association)	0.350
ANO4	ANO9	psi-mi:“MI:0914”(association)	0.350
ANO4	LAGE3	psi-mi:“MI:0914”(association)	0.350

BioGRID (28): ANO4 (Affinity Capture-RNA), ANO4 (Proximity Label-MS), ANO6 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), TPRKB (Affinity Capture-MS), ANO4 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), TP53RK (Affinity Capture-MS), DNAJC30 (Affinity Capture-MS), ENOSF1 (Affinity Capture-MS), PPP1R15B (Affinity Capture-MS), TPGS1 (Affinity Capture-MS), PREB (Affinity Capture-MS), CTAGE5 (Affinity Capture-MS), OSGEP (Affinity Capture-MS)

ESM2 similar proteins: A2BIE7, A6QLE6, D3Z649, D3Z7P3, E9PTA2, E9PV86, O94759, O94925, P13264, P13666, Q05B45, Q08DW9, Q13507, Q13635, Q17R16, Q32M45, Q4R766, Q4VBD2, Q5EAY8, Q5JUK3, Q5U4E0, Q5ZIN0, Q5ZLG8, Q61115, Q6AYT7, Q6NXT6, Q6UVM3, Q6UVM4, Q6ZPR4, Q7TQ48, Q7TSY2, Q7Z6J6, Q7Z7J7, Q86TD4, Q8BWB6, Q8C5H1, Q8N2K0, Q8NBT3, Q8NFT2, Q8QFV0

Diamond homologs: A1A5B4, A2AHL1, A6QLE6, P86044, Q14AT5, Q32M45, Q4KMQ2, Q5XXA6, Q6IFT6, Q6IWH7, Q6P9J9, Q75UR0, Q75V66, Q8BHY3, Q8C5H1, Q8CFW1, Q9BYT9, Q9NQ90, Q6PB70, Q9HCE9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	1
Uncertain significance	94
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
3067131	NM_001286615.2(ANO4):c.1688T>A (p.Met563Lys)	Pathogenic
3067132	NM_001286615.2(ANO4):c.1674C>A (p.Asn558Lys)	Pathogenic
3067133	NM_001286615.2(ANO4):c.1684A>T (p.Ile562Phe)	Pathogenic
3067134	NM_001286615.2(ANO4):c.1807A>G (p.Asn603Asp)	Pathogenic
3067135	NM_001286615.2(ANO4):c.387C>G (p.Asn129Lys)	Pathogenic
3067136	NM_001286615.2(ANO4):c.1582G>A (p.Val528Met)	Pathogenic
3068501	NM_001286615.2(ANO4):c.2174T>C (p.Ile725Thr)	Likely pathogenic

SpliceAI

5836 predictions. Top by Δscore:

Variant	Effect	Δscore
12:100794986:G:GT	donor_gain	1.0000
12:100901853:G:GT	donor_gain	1.0000
12:100901853:G:T	donor_gain	1.0000
12:100922327:GAAA:G	donor_gain	1.0000
12:100922331:G:GG	donor_gain	1.0000
12:100939309:TTCTA:T	acceptor_loss	1.0000
12:100939311:CTAG:C	acceptor_loss	1.0000
12:100939312:TAGT:T	acceptor_loss	1.0000
12:100939313:A:AG	acceptor_gain	1.0000
12:100939313:AGT:A	acceptor_gain	1.0000
12:100939314:G:GA	acceptor_gain	1.0000
12:100939314:GT:G	acceptor_gain	1.0000
12:100939314:GTG:G	acceptor_gain	1.0000
12:100939449:GAG:G	donor_gain	1.0000
12:100939452:G:GA	donor_loss	1.0000
12:100939452:G:GG	donor_gain	1.0000
12:100939453:T:G	donor_loss	1.0000
12:100942373:GCA:G	acceptor_loss	1.0000
12:100942375:A:AG	acceptor_gain	1.0000
12:100942376:G:GG	acceptor_gain	1.0000
12:100942376:GA:G	acceptor_gain	1.0000
12:100942376:GAC:G	acceptor_gain	1.0000
12:100942376:GACA:G	acceptor_gain	1.0000
12:100942485:G:GT	donor_gain	1.0000
12:100942531:AAGAG:A	donor_loss	1.0000
12:100942532:AGAGG:A	donor_loss	1.0000
12:100942533:GAG:G	donor_gain	1.0000
12:100942534:AG:A	donor_loss	1.0000
12:100942535:GG:G	donor_loss	1.0000
12:100942536:G:A	donor_loss	1.0000

AlphaMissense

6340 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:101020035:T:C	F246L	1.000
12:101020036:T:C	F246S	1.000
12:101020037:C:A	F246L	1.000
12:101020037:C:G	F246L	1.000
12:101040027:T:A	W324R	1.000
12:101040027:T:C	W324R	1.000
12:101042345:G:A	G344E	1.000
12:101042345:G:T	G344V	1.000
12:101042365:T:C	F351L	1.000
12:101042367:T:A	F351L	1.000
12:101042367:T:G	F351L	1.000
12:101042396:T:A	L361H	1.000
12:101042416:G:A	G368R	1.000
12:101042416:G:C	G368R	1.000
12:101042417:G:A	G368E	1.000
12:101048398:T:A	W437R	1.000
12:101048398:T:C	W437R	1.000
12:101079213:T:A	W445R	1.000
12:101079213:T:C	W445R	1.000
12:101079246:T:A	W456R	1.000
12:101079246:T:C	W456R	1.000
12:101079248:G:C	W456C	1.000
12:101079248:G:T	W456C	1.000
12:101096613:A:C	S606R	1.000
12:101096615:C:A	S606R	1.000
12:101096615:C:G	S606R	1.000
12:101099673:T:C	L701P	1.000
12:101110430:T:C	F726L	1.000
12:101110432:T:A	F726L	1.000
12:101110432:T:G	F726L	1.000

dbSNP variants (sampled 300 via entrez): RS1000005801 (12:101103139 C>A), RS1000014748 (12:100751440 C>G,T), RS1000017868 (12:100948077 C>G,T), RS1000025175 (12:100757358 A>G), RS1000035907 (12:101031922 G>A), RS1000049027 (12:101057886 T>A,C), RS1000072149 (12:100797950 G>A), RS1000096256 (12:100725308 T>G), RS1000103992 (12:101045575 C>G), RS1000104362 (12:100812624 G>C), RS1000106009 (12:100861895 G>A), RS1000107228 (12:101008040 T>G), RS1000108520 (12:100930526 G>A,C), RS1000121243 (12:100945862 C>G,T), RS1000121644 (12:101103483 G>A)

Disease associations

OMIM: gene MIM:610111 | disease phenotypes: MIM:604233, MIM:600512

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant
complex neurodevelopmental disorder	Moderate	Autosomal dominant

Mondo (5): developmental and epileptic encephalopathy (MONDO:0100620), generalized epilepsy with febrile seizures plus (MONDO:0018214), temporal lobe epilepsy (MONDO:0005115), complex neurodevelopmental disorder (MONDO:0100038), neurodevelopmental disorder (MONDO:0700092)

Orphanet (2): Genetic epilepsy with febrile seizure plus (Orphanet:36387), Familial temporal lobe epilepsy (Orphanet:98819)

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001915_30	Alzheimer’s disease (cognitive decline)	4.000000e-07
GCST002408_10	Response to methotrexate in juvenile idiopathic arthritis	5.000000e-06
GCST003264_1615	Post bronchodilator FEV1/FVC ratio	1.000000e-06
GCST003264_823	Post bronchodilator FEV1/FVC ratio	9.000000e-07
GCST003264_826	Post bronchodilator FEV1/FVC ratio	9.000000e-07
GCST008114_19	Type 2 diabetes	8.000000e-06
GCST008508_8	Stress sensitivity (neuroticism score x major depressive disorder status interaction)	6.000000e-06
GCST010220_4	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	6.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0007660	neuroticism measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D004833	Epilepsy, Temporal Lobe	C10.228.140.490.360.290; C10.228.140.490.493.375
D065886	Neurodevelopmental Disorders	F03.625
C565808	Generalized Epilepsy with Febrile Seizures Plus (supp.)

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
Valproic Acid	decreases methylation, affects cotreatment, increases expression	5
Aflatoxin B1	decreases expression, decreases methylation, increases methylation	3
potassium chromate(VI)	increases expression, affects cotreatment, decreases expression	2
Benzo(a)pyrene	decreases methylation, increases mutagenesis	2
methyleugenol	decreases expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
lead acetate	increases expression	1
trichostatin A	increases expression	1
arsenite	decreases expression	1
butyraldehyde	increases expression	1
triadimefon	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
dichloroacetonitrile	affects response to substance	1
chromium hexavalent ion	affects expression	1
CGP 52608	increases reaction, affects binding	1
entinostat	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
(+)-JQ1 compound	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Cisplatin	increases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	affects expression	1
Estradiol	increases expression	1
Methyl Methanesulfonate	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00595699	PHASE4	COMPLETED	Escitalopram Treatment of Major Depression in Patients With Temporal Lobe Epilepsy
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT03347526	PHASE3	SUSPENDED	A Novel Approach to Infantile Spasms
NCT03421496	PHASE3	TERMINATED	A Study to Assess Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms
NCT06719141	PHASE3	RECRUITING	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
NCT06908226	PHASE3	ENROLLING_BY_INVITATION	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
NCT00717431	PHASE3	TERMINATED	A Multicenter Study of Hippocampal Electrical Stimulation (HS, in Mesial Temporal Lobe Epilepsy
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT04289467	PHASE2	RECRUITING	Treatment of Refractory Infantile Spasms With Fenfluramine
NCT05626634	PHASE2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT04727970	PHASE1	COMPLETED	Tricaprilin Infantile Spasms Pilot Study
NCT06700811	PHASE1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
NCT05179083	PHASE1	UNKNOWN	Exercise for Brain Regeneration in Epilepsy
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial