KCND1

gene
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Also known as Kv4.1

Summary

KCND1 (potassium voltage-gated channel subfamily D member 1, HGNC:6237) is a protein-coding gene on chromosome Xp11.23, encoding A-type voltage-gated potassium channel KCND1 (Q9NSA2). A-type voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes in the brain.

This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction.

Source: NCBI Gene 3750 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
  • GWAS associations: 1
  • Clinical variants (ClinVar): 99 total
  • Druggable target: yes
  • MANE Select transcript: NM_004979

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6237
Approved symbolKCND1
Namepotassium voltage-gated channel subfamily D member 1
LocationXp11.23
Locus typegene with protein product
StatusApproved
AliasesKv4.1
Ensembl geneENSG00000102057
Ensembl biotypeprotein_coding
OMIM300281
Entrez3750

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000218176, ENST00000376477, ENST00000419374, ENST00000935975, ENST00000935976, ENST00000935977

RefSeq mRNA: 1 — MANE Select: NM_004979 NM_004979

CCDS: CCDS14314

Canonical transcript exons

ENST00000218176 — 6 exons

ExonStartEnd
ENSE000006707394896605548966305
ENSE000008671844896694448967106
ENSE000008671854896676148966844
ENSE000008671864896657848966676
ENSE000010458024896915148971844
ENSE000018413254896138048962806

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 82.68.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5646 / max 33.4380, expressed in 344 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1992170.4386290
1992160.103836
1992180.02224

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
endometrium epitheliumUBERON:000481182.68gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099180.41gold quality
right hemisphere of cerebellumUBERON:001489079.77gold quality
cerebellar hemisphereUBERON:000224579.47gold quality
cerebellar cortexUBERON:000212979.37gold quality
cerebellumUBERON:000203778.15gold quality
left uterine tubeUBERON:000130377.48gold quality
stromal cell of endometriumCL:000225575.59gold quality
descending thoracic aortaUBERON:000234572.67gold quality
paraflocculusUBERON:000535172.07gold quality
thoracic aortaUBERON:000151570.97gold quality
ascending aortaUBERON:000149670.81gold quality
omental fat padUBERON:001041470.42gold quality
peritoneumUBERON:000235870.39gold quality
left coronary arteryUBERON:000162670.04gold quality
granulocyteCL:000009469.75gold quality
gall bladderUBERON:000211069.20gold quality
smooth muscle tissueUBERON:000113568.99gold quality
adipose tissue of abdominal regionUBERON:000780868.96gold quality
body of uterusUBERON:000985368.78gold quality
coronary arteryUBERON:000162168.55gold quality
right coronary arteryUBERON:000162568.54gold quality
right ovaryUBERON:000211868.28gold quality
right frontal lobeUBERON:000281068.15gold quality
frontal poleUBERON:000279568.14gold quality
middle frontal gyrusUBERON:000270267.95gold quality
mucosa of stomachUBERON:000119967.52gold quality
right atrium auricular regionUBERON:000663167.51gold quality
prefrontal cortexUBERON:000045167.47gold quality
cerebellar vermisUBERON:000472067.39gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes8.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting KCND1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4510100.0066.602050
HSA-MIR-6127100.0066.762188
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-6133100.0066.482064
HSA-MIR-4425100.0067.591049
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-118499.9968.191458
HSA-MIR-453499.9966.581907
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-150-5P99.9966.691976
HSA-MIR-103A-3P99.9869.141595
HSA-MIR-10799.9869.141595
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-426799.9666.532368
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-808299.9567.271170
HSA-MIR-545-3P99.9570.742783
HSA-MIR-6845-3P99.9466.881439
HSA-MIR-218-5P99.9372.222103
HSA-MIR-311999.9271.342390
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-76599.8468.242442
HSA-MIR-132199.8465.301811
HSA-MIR-473999.8465.251832
HSA-MIR-4756-5P99.8464.981809
HSA-MIR-607999.8468.541170
HSA-MIR-44899.7972.372103
HSA-MIR-370-5P99.7866.81706

Literature-anchored findings (GeneRIF, showing 5)

  • These results demonstrated that Kv4.1 plays a role in proliferation of tumorigenic human mammary epithelial cells. (PMID:19401188)
  • S-glutathionylation of an auxiliary subunit confers redox sensitivity to Kv4 channel inactivation. (PMID:24675763)
  • reflected in the immunoblotting data KV4.1 receptors were detected at higher levels of expression in patient with cortical dysplasia with intractable epilepsy. (PMID:25003238)
  • Calbindin regulates Kv4.1 trafficking and excitability in dentate granule cells via CaMKII-dependent phosphorylation. (PMID:34234278)
  • Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity. (PMID:38772379)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusKcnd1ENSMUSG00000009731
rattus_norvegicusKcnd1ENSRNOG00000039544

Paralogs (31): KCNG1 (ENSG00000026559), KCNQ1 (ENSG00000053918), KCNQ2 (ENSG00000075043), KCNA7 (ENSG00000104848), KCNA1 (ENSG00000111262), KCNC4 (ENSG00000116396), KCNQ4 (ENSG00000117013), KCNS1 (ENSG00000124134), KCNC1 (ENSG00000129159), KCNA5 (ENSG00000130037), KCNC3 (ENSG00000131398), KCNA10 (ENSG00000143105), KCNA6 (ENSG00000151079), KCNS2 (ENSG00000156486), KCNB1 (ENSG00000158445), KCNF1 (ENSG00000162975), KCNV1 (ENSG00000164794), KCNC2 (ENSG00000166006), KCNV2 (ENSG00000168263), KCNG4 (ENSG00000168418), KCNS3 (ENSG00000170745), KCNG3 (ENSG00000171126), KCND3 (ENSG00000171385), KCNA3 (ENSG00000177272), KCNA2 (ENSG00000177301), KCNG2 (ENSG00000178342), KCNA4 (ENSG00000182255), KCNB2 (ENSG00000182674), KCNQ3 (ENSG00000184156), KCND2 (ENSG00000184408), KCNQ5 (ENSG00000185760)

Protein

Protein identifiers

A-type voltage-gated potassium channel KCND1Q9NSA2 (reviewed: Q9NSA2)

Alternative names: Potassium voltage-gated channel subfamily D member 1, Shal-type potassium channel KCND1, Voltage-gated potassium channel subunit Kv4.1

All UniProt accessions (2): Q9NSA2, H7C3V4

UniProt curated annotations — full annotation on UniProt →

Function. A-type voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes in the brain. Mediates A-type current I(SA) in suprachiasmatic nucleus (SCN) neurons. Exhibits a low-threshold A-type current with a hyperpolarized steady-state inactivation midpoint and the recovery process was steeply voltage-dependent, with recovery being markedly faster at more negative potentials. May regulates repetitive firing rates in the suprachiasmatic nucleus (SCN) neurons and circadian rhythms in neuronal excitability and behavior. Contributes to the regulation of the circadian rhythm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity. The regulatory subunit KCNIP1 modulates the kinetics of channel inactivation, increases the current amplitudes and accelerates recovery from inactivation, shifts activation in a depolarizing direction. The regulatory subunit DPP10 decreases the voltage sensitivity of the inactivation channel gating.

Subunit / interactions. Component of heteromultimeric potassium channels. Identified in potassium channel complexes containing KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10.

Subcellular location. Cell membrane.

Tissue specificity. Widely expressed. Highly expressed in brain, in particular in cerebellum and thalamus; detected at lower levels in the other parts of the brain.

Domain organisation. The transmembrane segment S4 functions as a voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. The zinc binding sites in the N-terminal domain are important for tetramerization and assembly of a functional channel complex. Most likely, the channel undergoes closed-state inactivation, where a subtle conformation change would render the protein less sensitive to activation.

Similarity. Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q9NSA2-11yes
Q9NSA2-22

RefSeq proteins (1): NP_004970* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000210BTB/POZ_domDomain
IPR003131T1-type_BTBDomain
IPR003968K_chnl_volt-dep_KvFamily
IPR003975K_chnl_volt-dep_Kv4Family
IPR004054K_chnl_volt-dep_Kv4.1Family
IPR005821Ion_trans_domDomain
IPR011333SKP1/BTB/POZ_sfHomologous_superfamily
IPR021645Shal-type_NDomain
IPR024587K_chnl_volt-dep_Kv4_CDomain
IPR027359Volt_channel_dom_sfHomologous_superfamily
IPR028325VG_K_chnlFamily

Pfam: PF00520, PF02214, PF11601, PF11879

Catalyzed reactions (Rhea), 1 shown:

  • K(+)(in) = K(+)(out) (RHEA:29463)

UniProt features (35 total): topological domain 8, transmembrane region 6, region of interest 6, binding site 3, intramembrane region 2, modified residue 2, glycosylation site 2, sequence conflict 2, chain 1, short sequence motif 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NSA2-F170.950.41

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): 104; 131; 132

Post-translational modifications (2): 458, 555

Glycosylation sites (2): 352, 355

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

IDPathway
R-HSA-1296072Voltage gated Potassium channels
R-HSA-5576894Phase 1 - inactivation of fast Na+ channels
R-HSA-112316Neuronal System
R-HSA-1296071Potassium Channels
R-HSA-397014Muscle contraction
R-HSA-5576891Cardiac conduction

MSigDB gene sets: 170 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, RNGTGGGC_UNKNOWN, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, REACTOME_POTASSIUM_CHANNELS, AAGCCAT_MIR135A_MIR135B, AREB6_01, AP2_Q3, CTATGCA_MIR153, AATGGAG_MIR136, GOBP_MONOATOMIC_CATION_TRANSPORT, KOYAMA_SEMA3B_TARGETS_UP, TGCTGAY_UNKNOWN, HEN1_01, MODULE_480, MODULE_99

GO Biological Process (7): action potential (GO:0001508), protein homooligomerization (GO:0051260), potassium ion transmembrane transport (GO:0071805), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)

GO Molecular Function (6): A-type (transient outward) potassium channel activity (GO:0005250), metal ion binding (GO:0046872), monoatomic ion channel activity (GO:0005216), voltage-gated potassium channel activity (GO:0005249), potassium channel activity (GO:0005267), protein binding (GO:0005515)

GO Cellular Component (7): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), neuronal cell body (GO:0043025), dendritic spine (GO:0043197), postsynaptic membrane (GO:0045211), membrane (GO:0016020), monoatomic ion channel complex (GO:0034702)

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
Potassium Channels1
Cardiac conduction1
Neuronal System1
Muscle contraction1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transport2
postsynapse2
regulation of membrane potential1
protein complex oligomerization1
potassium ion transport1
monoatomic cation transmembrane transport1
metal ion transport1
monoatomic ion transport1
transmembrane transport1
cellular process1
outward rectifier potassium channel activity1
cation binding1
monoatomic ion transmembrane transporter activity1
channel activity1
potassium channel activity1
voltage-gated monoatomic cation channel activity1
monoatomic cation channel activity1
potassium ion transmembrane transporter activity1
binding1
membrane1
cell periphery1
potassium channel complex1
plasma membrane protein complex1
somatodendritic compartment1
cell body1
dendrite1
neuron spine1
synaptic membrane1
cellular anatomical structure1
transmembrane transporter complex1

Protein interactions and networks

STRING

1352 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KCND1KCNIP4Q6PIL6920
KCND1KCNIP1Q9NZI2863
KCND1KCNIP2Q9NS61708
KCND1KCNIP3Q9Y2W7677
KCND1VSNL1P28677671
KCND1PI4KBP78405669
KCND1CADPSQ9ULU8649
KCND1NCS1P36610641
KCND1IL1RAPL1Q9NZN1634
KCND1KCND3Q9UK17612
KCND1DPP6P42658611
KCND1KCNA4P22459575
KCND1RCVRNP35243543
KCND1DPP10Q8N608539
KCND1KCNH5Q8NCM2504

IntAct

2 interactions, top by confidence:

ABTypeScore
KCND1HMGA1psi-mi:“MI:0915”(physical association)0.400

BioGRID (2): KCND1 (Proximity Label-MS), KCND1 (Proximity Label-MS)

ESM2 similar proteins: A2BDX4, A4K2T1, A4K2Y2, D4AD53, O15554, O73606, O88454, O89109, P15388, P17971, P17972, P35739, P48547, P59053, P59994, P59995, P97557, Q03719, Q0P583, Q17ST2, Q52PG9, Q5RC10, Q60565, Q63881, Q6IVV8, Q6PIU1, Q7TN37, Q80XM3, Q8BZN2, Q8CFS6, Q8HYZ1, Q8IV77, Q8R1P5, Q8R523, Q8TAE7, Q8TD43, Q8TDN1, Q8TDN2, Q96RP8, Q9ERS0

Diamond homologs: A2BDX4, A4K2M4, A4K2N8, A4K2P6, A4K2Q6, A4K2R3, A4K2S2, A4K2T1, A4K2V2, A4K2W6, A4K2X4, A4K2Y2, A6H8H5, D4AD53, D4ADX7, G5EFC3, O18868, O35173, O35174, O73606, O88758, O88759, P10499, P15384, P15385, P15387, P15388, P16388, P16390, P17970, P17971, P17972, P22001, P22459, P22739, P25122, P48547, P59053, P59994, P59995

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance70
Likely benign7
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1058 predictions. Top by Δscore:

VariantEffectΔscore
X:48962804:CGG:Cacceptor_gain1.0000
X:48962807:C:CCacceptor_gain1.0000
X:48966049:GCTTA:Gdonor_loss1.0000
X:48966050:CTTA:Cdonor_loss1.0000
X:48966051:TTACC:Tdonor_loss1.0000
X:48966052:TACC:Tdonor_loss1.0000
X:48966053:A:ACdonor_gain1.0000
X:48966053:ACC:Adonor_loss1.0000
X:48966054:C:CCdonor_gain1.0000
X:48966054:CCT:Cdonor_gain1.0000
X:48966756:CCCA:Cdonor_loss1.0000
X:48966759:A:Tdonor_loss1.0000
X:48966784:A:ACdonor_gain1.0000
X:48966785:C:CCdonor_gain1.0000
X:48966840:ACCTT:Aacceptor_gain1.0000
X:48966841:CCTTC:Cacceptor_gain1.0000
X:48966842:CTT:Cacceptor_gain1.0000
X:48966843:TT:Tacceptor_gain1.0000
X:48966843:TTCTG:Tacceptor_loss1.0000
X:48966845:C:CCacceptor_gain1.0000
X:48966848:C:CTacceptor_gain1.0000
X:48966849:A:Tacceptor_gain1.0000
X:48966939:GTTAC:Gdonor_loss1.0000
X:48966940:TTAC:Tdonor_loss1.0000
X:48966941:TACC:Tdonor_loss1.0000
X:48966942:A:ACdonor_gain1.0000
X:48966942:ACC:Adonor_loss1.0000
X:48966943:C:CCdonor_gain1.0000
X:48966943:CCTG:Cdonor_gain1.0000
X:48967105:AG:Aacceptor_gain1.0000

AlphaMissense

4212 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
X:48966990:C:GR413P1.000
X:48966995:A:CF411L1.000
X:48966995:A:TF411L1.000
X:48966996:A:CF411C1.000
X:48966996:A:GF411S1.000
X:48966997:A:GF411L1.000
X:48967008:A:CI407S1.000
X:48967008:A:TI407N1.000
X:48967011:A:TV406D1.000
X:48967020:G:CP403R1.000
X:48967020:G:TP403H1.000
X:48967023:A:CL402R1.000
X:48967023:A:GL402P1.000
X:48967023:A:TL402Q1.000
X:48967026:G:TA401D1.000
X:48967029:A:TI400N1.000
X:48967035:A:CL398W1.000
X:48967041:C:TG396D1.000
X:48967042:C:GG396R1.000
X:48967043:A:CS395R1.000
X:48967043:A:TS395R1.000
X:48967045:T:GS395R1.000
X:48967047:A:GL394P1.000
X:48967047:A:TL394H1.000
X:48967052:G:CC392W1.000
X:48967053:C:TC392Y1.000
X:48967054:A:GC392R1.000
X:48967062:C:TG389E1.000
X:48967063:C:AG389W1.000
X:48967063:C:GG389R1.000

dbSNP variants (sampled 300 via entrez): RS1000248357 (X:48965178 A>G), RS1000896122 (X:48967448 C>T), RS1001350211 (X:48967927 G>A,C), RS1001954752 (X:48970450 G>A,T), RS1002902342 (X:48972463 C>T), RS1002968328 (X:48961339 C>T), RS1003363685 (X:48973073 C>T), RS1003590 (X:48961175 C>G,T), RS1003976554 (X:48964141 G>A), RS1004071350 (X:48964569 T>C,G), RS1005029989 (X:48966790 G>A,C), RS1005534692 (X:48967269 T>A), RS1007082738 (X:48971854 T>C), RS1009160812 (X:48965820 G>A,T), RS1009546833 (X:48968590 G>A)

Disease associations

OMIM: gene MIM:300281 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
neurodevelopmental disorderStrongX-linked

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST90002400_517Plateletcrit7.000000e-14

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007985platelet crit

MeSH disease descriptors (1)

DescriptorNameTree numbers
D065886Neurodevelopmental DisordersF03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2362996 (PROTEIN FAMILY)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: vgic — Voltage-gated potassium channels (Kv)

Most potent curated ligand interactions (3 total), top 3:

LigandActionAffinityParameter
HmTx1Channel blocker6.5pIC50
tetraethylammoniumChannel blocker2.0pIC50
fampridineChannel blocker2.0pIC50

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
9.82Ki0.15nMCHEMBL5722941
9.74IC500.18nMCHEMBL5722941

PubChem BioAssay actives

2 with measured affinity, of 34 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
3-[(1R,2aS,4S,5aS,8aS,10S,11aR,14aS,16S,17aS,19S,20aS,22S,23aS,25S,26aS,28S,29aS,31R,32aS,35aS,36R,38aS,39S,41aS,42S,44aS,45S,48R,50aS,51S,53aS,54S,56aS,57S,59aS,60S,63S,66S,69S,72S,75S,78S,87R,93S,96S,99S)-17a,20a,23a,53a,63-pentakis(4-aminobutyl)-31-[[(2S)-2-[[(2S)-6-amino-2-[[(2S)-5-carbamimidamido-2-[[(2S)-5-carbamimidamido-2-[[(2S)-1-[(2S)-5-oxopyrrolidine-2-carbonyl]pyrrolidine-2-carbonyl]amino]pentanoyl]amino]pentanoyl]amino]hexanoyl]amino]-4-methylpentanoyl]amino]-16,29a,72,78-tetrakis(2-amino-2-oxoethyl)-14a,26a-bis(3-amino-3-oxopropyl)-2a,38a,66-tribenzyl-28,50a,57-tris[(2S)-butan-2-yl]-4,5a,19,42,45,69-hexakis(3-carbamimidamidopropyl)-51,54-bis(2-carboxyethyl)-56a,99-bis(carboxymethyl)-36-[[(2S,3S)-1-(carboxymethylamino)-3-methyl-1-oxopentan-2-yl]carbamoyl]-39,60-bis[(1R)-1-hydroxyethyl]-75,93-bis(hydroxymethyl)-32a,35a,59a-tris[(4-hydroxyphenyl)methyl]-22-(1H-imidazol-4-ylmethyl)-96-(1H-indol-3-ylmethyl)-41a-methyl-25-(2-methylpropyl)-1a,3,4a,6,7a,9,10a,13a,15,16a,18,19a,21,22a,24,25a,27,28a,30,31a,34a,37a,38,40a,41,43a,44,47,49a,50,52a,53,55a,56,58a,59,61a,62,65,68,71,74,77,80,83,86,89,92,95,98-pentacontaoxo-33,34,63a,64a,67a,68a-hexathia-a,2,3a,5,6a,8,9a,12a,14,15a,17,18a,20,21a,23,24a,26,27a,29,30a,33a,36a,37,39a,40,42a,43,46,48a,49,51a,52,54a,55,57a,58,60a,61,64,67,70,73,76,79,82,85,88,91,94,97-pentacontazapentacyclo[85.74.4.448,111.010,14.0144,148]nonahexacontahectan-8a-yl]propanoic acid2198828: Binding affinity to KV channel (unknown origin) assessed as inhibition constantki0.0001uM

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, increases expression2
aristolochic acid Iincreases expression1
triphenyl phosphateaffects expression1
hydroxyhydroquinonedecreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
sulforaphanedecreases expression1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608affects binding, increases reaction1
jinfukangaffects cotreatment, decreases expression1
Air Pollutantsaffects expression, increases abundance1
Benzo(a)pyrenedecreases methylation1
Cisplatinaffects cotreatment, decreases expression1
Diethylhexyl Phthalatedecreases expression1
Estradiolaffects cotreatment, increases expression1
Ozoneaffects expression, increases abundance1
Silicon Dioxidedecreases expression1
Smokedecreases expression1
Tobacco Smoke Pollutionincreases expression1
Urethaneincreases expression1
Valproic Acidincreases methylation1
Acrylamideincreases expression1

ChEMBL screening assays

21 unique, capped per target: 20 binding, 1 toxicity

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1787442BindingInhibition of human recombinant Kv channel at 10 uM by radioligand binding assayStructure-activity relationships of pyrrole based S-nitrosoglutathione reductase inhibitors: pyrrole regioisomers and propionic acid replacement. — Bioorg Med Chem Lett
CHEMBL5522525ToxicityInhibition of human K+ channel by automated electrophysiologyDiscovery of Clinical Candidate AZD5462, a Selective Oral Allosteric RXFP1 Agonist for Treatment of Heart Failure. — J Med Chem

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT04586348PHASE4UNKNOWNPrenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115PHASE4UNKNOWNDouble-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,
NCT02559102PHASE3COMPLETEDDexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079PHASE3COMPLETEDStudy of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480PHASE3RECRUITINGReducing Missed Appointments
NCT07377032PHASE3RECRUITINGTAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959PHASE2COMPLETEDSulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348PHASE2RECRUITINGSertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372PHASE2COMPLETEDSafety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191PHASE1COMPLETEDNeuroModulation Technique Treatment of Autism
NCT04475848PHASE1COMPLETEDA Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398PHASE1COMPLETEDIAMA-6 Oral Dose Study in Healthy Adults
NCT01783041PHASE2/PHASE3COMPLETEDEffect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385PHASE2/PHASE3RECRUITINGFetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098EARLY_PHASE1NOT_YET_RECRUITINGCentral Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783Not specifiedCOMPLETEDCYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504Not specifiedRECRUITINGStudying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784Not specifiedUNKNOWNHigh Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791Not specifiedCOMPLETEDNutrition and Pregnancy Intervention Study
NCT01942525Not specifiedUNKNOWNInfluence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170Not specifiedCOMPLETEDEtiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649Not specifiedACTIVE_NOT_RECRUITINGEnhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191Not specifiedTERMINATEDBiomarkers, Neurodevelopment and Preterm Infants
NCT02690675Not specifiedCOMPLETEDIron Supplement Effect on Child Development
NCT02694003Not specifiedCOMPLETEDBetter Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894Not specifiedCOMPLETEDFamily Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674Not specifiedUNKNOWNGood Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157Not specifiedCOMPLETEDAnalyzing Retinal Microanatomy in ROP
NCT02898298Not specifiedCOMPLETEDPositive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780Not specifiedUNKNOWNIntroduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293Not specifiedCOMPLETEDn-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644Not specifiedCOMPLETEDImproving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991Not specifiedUNKNOWNEarly Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189Not specifiedTERMINATEDEffect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028Not specifiedCOMPLETEDDevelopmental Origins of Mental Health Disorders
NCT03148782Not specifiedCOMPLETEDBrain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104Not specifiedCOMPLETEDNeurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375Not specifiedRECRUITINGSQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928Not specifiedCOMPLETEDClinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489Not specifiedUNKNOWNStudy for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice