KCNS2

gene
On this page

Also known as Kv9.2

Summary

KCNS2 (potassium voltage-gated channel modifier subfamily S member 2, HGNC:6301) is a protein-coding gene on chromosome 8q22.2, encoding Delayed-rectifier potassium channel regulatory subunit KCNS2 (Q9ULS6). Potassium channel regulatory subunit that modulate the delayed rectifier voltage-gated potassium channel activity of KCNB1 and KCNB2 by altering their kinetics, expression levels, and shifting the half-inactivation potential to more polarized values.

Predicted to enable potassium channel regulator activity. Predicted to be involved in action potential; potassium ion transmembrane transport; and regulation of potassium ion transmembrane transport. Predicted to be located in perinuclear region of cytoplasm and plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in membrane.

Source: NCBI Gene 3788 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 49 total — 1 pathogenic
  • Druggable target: yes
  • MANE Select transcript: NM_020697

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6301
Approved symbolKCNS2
Namepotassium voltage-gated channel modifier subfamily S member 2
Location8q22.2
Locus typegene with protein product
StatusApproved
AliasesKv9.2
Ensembl geneENSG00000156486
Ensembl biotypeprotein_coding
OMIM602906
Entrez3788

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000287042, ENST00000521839

RefSeq mRNA: 1 — MANE Select: NM_020697 NM_020697

CCDS: CCDS6279

Canonical transcript exons

ENST00000287042 — 2 exons

ExonStartEnd
ENSE000010267869842793898432853
ENSE000014784129842695898427329

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 93.39.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6047 / max 30.8201, expressed in 175 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
899380.297987
899370.133478
2052700.073245
899350.055635
899360.044732

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
endothelial cellCL:000011593.39gold quality
middle temporal gyrusUBERON:000277178.74gold quality
Brodmann (1909) area 23UBERON:001355477.95gold quality
primary visual cortexUBERON:000243675.36gold quality
prefrontal cortexUBERON:000045175.25gold quality
occipital lobeUBERON:000202172.93gold quality
buccal mucosa cellCL:000233672.19silver quality
frontal cortexUBERON:000187070.93gold quality
Brodmann (1909) area 9UBERON:001354069.32gold quality
dorsolateral prefrontal cortexUBERON:000983469.31gold quality
superior frontal gyrusUBERON:000266168.86gold quality
neocortexUBERON:000195068.68gold quality
right frontal lobeUBERON:000281066.27gold quality
cerebral cortexUBERON:000095666.07gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451166.06gold quality
saphenous veinUBERON:000731865.79gold quality
nippleUBERON:000203065.61gold quality
trabecular bone tissueUBERON:000248365.46gold quality
cardia of stomachUBERON:000116265.29gold quality
pericardiumUBERON:000240765.26gold quality
subthalamic nucleusUBERON:000190665.19gold quality
dorsal plus ventral thalamusUBERON:000189765.15gold quality
inferior vagus X ganglionUBERON:000536365.08gold quality
parietal lobeUBERON:000187265.07silver quality
vena cavaUBERON:000408765.05gold quality
postcentral gyrusUBERON:000258164.99silver quality
superior surface of tongueUBERON:000737164.92gold quality
pharyngeal mucosaUBERON:000035564.91gold quality
body of tongueUBERON:001187664.84gold quality
medulla oblongataUBERON:000189664.79gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no2.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting KCNS2, 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-548P99.9872.253784
HSA-MIR-548AN99.9770.912817
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-545-3P99.9570.742783
HSA-MIR-971899.9468.91918
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-6845-3P99.9466.881439
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-314399.9371.963104
HSA-MIR-498-3P99.9171.271114
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-449699.8868.892236
HSA-MIR-444799.8567.812900
HSA-MIR-548AR-3P99.8571.263889
HSA-MIR-130B-5P99.8368.501888
HSA-MIR-442099.8270.081624
HSA-MIR-548AZ-3P99.8270.563549
HSA-MIR-548BC99.8270.613524
HSA-MIR-548E-3P99.8270.593514
HSA-MIR-548F-3P99.8270.593540
HSA-MIR-181B-2-3P99.8170.061646
HSA-MIR-181B-3P99.8170.061646
HSA-MIR-4668-5P99.7970.583782
HSA-MIR-548A-3P99.7670.583524
HSA-MIR-117999.7168.701040

Literature-anchored findings (GeneRIF, showing 1)

  • KCNS2 mutation is associated with Essential Tremor. (PMID:29769701)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusKcns2ENSMUSG00000050963
rattus_norvegicusKcns2ENSRNOG00000066111

Paralogs (31): KCNG1 (ENSG00000026559), KCNQ1 (ENSG00000053918), KCNQ2 (ENSG00000075043), KCND1 (ENSG00000102057), KCNA7 (ENSG00000104848), KCNA1 (ENSG00000111262), KCNC4 (ENSG00000116396), KCNQ4 (ENSG00000117013), KCNS1 (ENSG00000124134), KCNC1 (ENSG00000129159), KCNA5 (ENSG00000130037), KCNC3 (ENSG00000131398), KCNA10 (ENSG00000143105), KCNA6 (ENSG00000151079), 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

Delayed-rectifier potassium channel regulatory subunit KCNS2Q9ULS6 (reviewed: Q9ULS6)

Alternative names: Delayed-rectifier K(+) channel alpha subunit 2, Delayed-rectifier potassium channel subunit Kv9.2, Potassium voltage-gated channel subfamily S member 2

All UniProt accessions (1): Q9ULS6

UniProt curated annotations — full annotation on UniProt →

Function. Potassium channel regulatory subunit that modulate the delayed rectifier voltage-gated potassium channel activity of KCNB1 and KCNB2 by altering their kinetics, expression levels, and shifting the half-inactivation potential to more polarized values. While it does not form functional channels on its own, it can form functional heterotetrameric channels with KCNB1 and KCNB2. Each regulatory subunit has unique regulatory properties that can lead to extensive inhibition, significant changes in kinetics, and/or substantial shifts in the voltage dependencies of the inactivation process.

Subunit / interactions. Heterotetramer with KCNB1 and KCNB2. Does not form homomultimers.

Subcellular location. Cell membrane.

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.

Similarity. Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.2/KCNS2 sub-subfamily.

RefSeq proteins (1): NP_065748* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000210BTB/POZ_domDomain
IPR003131T1-type_BTBDomain
IPR003968K_chnl_volt-dep_KvFamily
IPR003971K_chnl_volt-dep_Kv5/Kv9Family
IPR005821Ion_trans_domDomain
IPR011333SKP1/BTB/POZ_sfHomologous_superfamily
IPR027359Volt_channel_dom_sfHomologous_superfamily
IPR028325VG_K_chnlFamily

Pfam: PF00520, PF02214

UniProt features (18 total): topological domain 8, transmembrane region 6, intramembrane region 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9ULS6-F181.140.41

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-1296072Voltage gated Potassium channels
R-HSA-112316Neuronal System
R-HSA-1296071Potassium Channels

MSigDB gene sets: 107 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, BENPORATH_ES_WITH_H3K27ME3, E2F4DP1_01, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, REACTOME_POTASSIUM_CHANNELS, CAGCTG_AP4_Q5, GOBP_MONOATOMIC_CATION_TRANSPORT, E2F1DP1_01, E2F1DP2_01, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, chr8q22, AACTTT_UNKNOWN, GOBP_PROTEIN_HOMOOLIGOMERIZATION, EGR1_01, GOBP_REGULATION_OF_TRANSPORT

GO Biological Process (8): action potential (GO:0001508), potassium ion transport (GO:0006813), protein homooligomerization (GO:0051260), potassium ion transmembrane transport (GO:0071805), regulation of potassium ion transmembrane transport (GO:1901379), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)

GO Molecular Function (5): voltage-gated potassium channel activity (GO:0005249), potassium channel regulator activity (GO:0015459), monoatomic ion channel activity (GO:0005216), potassium channel activity (GO:0005267), protein binding (GO:0005515)

GO Cellular Component (6): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), monoatomic ion channel complex (GO:0034702)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Potassium Channels1
Neuronal System1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
transport2
potassium channel activity2
regulation of membrane potential1
metal ion transport1
protein complex oligomerization1
potassium ion transport1
monoatomic cation transmembrane transport1
regulation of potassium ion transport1
potassium ion transmembrane transport1
regulation of monoatomic cation transmembrane transport1
monoatomic ion transport1
transmembrane transport1
cellular process1
voltage-gated monoatomic cation channel activity1
ion channel regulator activity1
monoatomic ion transmembrane transporter activity1
channel activity1
monoatomic cation channel activity1
potassium ion transmembrane transporter activity1
binding1
membrane1
cell periphery1
potassium channel complex1
plasma membrane protein complex1
cytoplasm1
intracellular anatomical structure1
transmembrane transporter complex1

Protein interactions and networks

STRING

1758 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KCNS2HAPLN4Q86UW8633
KCNS2CCDC183Q5T5S1540
KCNS2USP46P62068507
KCNS2KCNH4Q9UQ05500
KCNS2KCNH3Q9ULD8487
KCNS2SCN11AQ9UI33486
KCNS2TENM4Q6N022484
KCNS2STK32BQ9NY57479
KCNS2SCN4AP35499458
KCNS2GPR151Q8TDV0442
KCNS2KCNH7Q9NS40432
KCNS2KCNB1Q14721429
KCNS2KCNU1A8MYU2390
KCNS2KCNK15Q9H427385
KCNS2KCNJ15Q99712374

IntAct

13 interactions, top by confidence:

ABTypeScore
KCNS2FATE1psi-mi:“MI:0915”(physical association)0.720
FATE1KCNS2psi-mi:“MI:0915”(physical association)0.720
NOTCH2NLCKCNS2psi-mi:“MI:0915”(physical association)0.560
CYSRT1KCNS2psi-mi:“MI:0915”(physical association)0.560
KCNS2NOTCH2NLCpsi-mi:“MI:0915”(physical association)0.000
KCNS2FATE1psi-mi:“MI:0915”(physical association)0.000
KCNS2CYSRT1psi-mi:“MI:0915”(physical association)0.000

BioGRID (10): FATE1 (Two-hybrid), KCNS2 (Affinity Capture-MS), KCNS2 (Two-hybrid), CYSRT1 (Two-hybrid), NOTCH2NL (Two-hybrid), NBPF19 (Two-hybrid), KCNS2 (Negative Genetic), KCNV1 (Negative Genetic), KCNS2 (Two-hybrid), KCNS2 (Two-hybrid)

ESM2 similar proteins: A0A072VMJ3, F4IME1, F4IME2, G7IBJ4, G7JND3, O35174, O48538, O81209, O81210, O81211, O82226, O88759, Q5ZAJ0, Q6J2K5, Q6R8G2, Q6R8G3, Q6R8G6, Q84M97, Q8BQZ8, Q8GWD2, Q8L7Z0, Q8RWS9, Q948U0, Q9BQ31, Q9ER26, Q9FIJ0, Q9FJD6, Q9FXH6, Q9LD37, Q9LD40, Q9LDR2, Q9LEQ3, Q9LH74, Q9LNJ0, Q9LPG3, Q9LYG9, Q9LZU9, Q9M0A4, Q9S9N5, Q9SBI0

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

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance42
Likely benign2
Benign2

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
3245482NC_000008.10:g.(?99346108)(100589843_?)delPathogenic

SpliceAI

163 predictions. Top by Δscore:

VariantEffectΔscore
8:98427326:CCAG:Cdonor_loss0.9900
8:98427327:CAGG:Cdonor_loss0.9900
8:98427329:GGTAA:Gdonor_loss0.9900
8:98427330:G:GAdonor_loss0.9900
8:98427331:T:Adonor_loss0.9900
8:98429291:G:GTdonor_gain0.9900
8:98427933:TCCA:Tacceptor_loss0.9700
8:98427934:CCA:Cacceptor_loss0.9700
8:98427935:CA:Cacceptor_loss0.9700
8:98427936:A:ACacceptor_loss0.9700
8:98429076:G:GAdonor_gain0.9700
8:98427330:G:GGdonor_gain0.9600
8:98427937:GGT:Gacceptor_gain0.9600
8:98429036:G:GTdonor_gain0.9600
8:98429089:C:Adonor_gain0.9600
8:98429075:T:TAdonor_gain0.9400
8:98429315:G:Tdonor_gain0.9400
8:98429314:GGAC:Gdonor_gain0.9300
8:98427287:G:Tdonor_gain0.9200
8:98429090:A:AGdonor_gain0.9200
8:98429091:G:GGdonor_gain0.9200
8:98427287:G:GTdonor_gain0.9100
8:98427937:G:Tacceptor_gain0.8800
8:98427937:GGTGT:Gacceptor_gain0.8800
8:98427935:CAGG:Cacceptor_gain0.8700
8:98427936:A:AGacceptor_gain0.8700
8:98427936:AGG:Aacceptor_gain0.8700
8:98427937:G:GGacceptor_gain0.8700
8:98429211:A:AGdonor_gain0.8700
8:98427934:CCAGG:Cacceptor_gain0.8600

AlphaMissense

3160 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:98428191:T:CF71S1.000
8:98428197:G:CR73P1.000
8:98428301:T:AW108R1.000
8:98428301:T:CW108R1.000
8:98428303:G:CW108C1.000
8:98428303:G:TW108C1.000
8:98429078:T:AW367R1.000
8:98429078:T:CW367R1.000
8:98429090:A:CS371R1.000
8:98429092:T:AS371R1.000
8:98429092:T:GS371R1.000
8:98429105:G:TG376W1.000
8:98429106:G:AG376E1.000
8:98429161:C:GC394W1.000
8:98429171:G:CG398R1.000
8:98429172:G:AG398D1.000
8:98429193:C:AP405H1.000
8:98429193:C:GP405R1.000
8:98429216:T:CF413L1.000
8:98429218:C:AF413L1.000
8:98429218:C:GF413L1.000
8:98428116:T:CL46S0.999
8:98428156:C:GC59W0.999
8:98428190:T:CF71L0.999
8:98428192:C:AF71L0.999
8:98428192:C:GF71L0.999
8:98428196:C:AR73S0.999
8:98428197:G:TR73L0.999
8:98428268:T:CC97R0.999
8:98428269:G:AC97Y0.999

dbSNP variants (sampled 300 via entrez): RS1000847535 (8:98426866 G>A), RS1001630997 (8:98426290 C>T), RS1001775282 (8:98433327 G>A), RS1002011492 (8:98430498 G>C), RS1002086011 (8:98431871 T>C), RS1002126209 (8:98430214 C>CT), RS1002575074 (8:98425033 G>A,C,T), RS1003641148 (8:98430114 G>A), RS1003760502 (8:98430415 T>G), RS1004969573 (8:98432005 C>T), RS1004976019 (8:98429993 T>C), RS1005148346 (8:98425811 A>G), RS1005263331 (8:98429747 T>G), RS1005350956 (8:98427305 C>G,T), RS1005484870 (8:98427136 A>T)

Disease associations

OMIM: gene MIM:602906 | disease phenotypes: MIM:216550

GenCC curated gene-disease

Mondo (1): Cohen syndrome (MONDO:0008999)

Orphanet (1): Cohen syndrome (Orphanet:193)

HPO phenotypes

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

GWAS associations

2 associations (top):

StudyTraitp-value
GCST003991_12Childhood ear infection1.000000e-08
GCST005013_62Childhood ear infection1.000000e-08

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007904susceptibility to childhood ear infection measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
C536438Cohen syndrome (supp.)

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)

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

14 total (human), top 14 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Adecreases expression1
2,5,2’,5’-tetrachlorobiphenyldecreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression1
nutlin 3increases expression, affects cotreatment1
Benzo(a)pyreneincreases methylation1
Camptothecinincreases expression1
Cisplatinincreases expression1
Dactinomycinaffects cotreatment, increases expression1
Doxorubicinincreases expression1
Leadaffects expression1
Lipopolysaccharidesincreases expression, affects response to substance1
Valproic Acidincreases methylation1
Sodium Selenitedecreases expression1
Antirheumatic Agentsincreases 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

Cellosaurus cell lines

2 cell lines: 1 spontaneously immortalized cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D1K3PrecisION hKv2.1/Kv9.2-CHOSpontaneously immortalized cell lineFemale
CVCL_YA70IDG-HEK293T-KCNS2-V5-OETransformed cell lineFemale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01907555Not specifiedCOMPLETEDClinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Cohen syndrome