KCNS2
gene geneOn 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
| Field | Value |
|---|---|
| HGNC ID | HGNC:6301 |
| Approved symbol | KCNS2 |
| Name | potassium voltage-gated channel modifier subfamily S member 2 |
| Location | 8q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Kv9.2 |
| Ensembl gene | ENSG00000156486 |
| Ensembl biotype | protein_coding |
| OMIM | 602906 |
| Entrez | 3788 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001026786 | 98427938 | 98432853 |
| ENSE00001478412 | 98426958 | 98427329 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 89938 | 0.2979 | 87 |
| 89937 | 0.1334 | 78 |
| 205270 | 0.0732 | 45 |
| 89935 | 0.0556 | 35 |
| 89936 | 0.0447 | 32 |
Top tissues by expression
234 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 93.39 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 78.74 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 77.95 | gold quality |
| primary visual cortex | UBERON:0002436 | 75.36 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.25 | gold quality |
| occipital lobe | UBERON:0002021 | 72.93 | gold quality |
| buccal mucosa cell | CL:0002336 | 72.19 | silver quality |
| frontal cortex | UBERON:0001870 | 70.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 69.32 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 69.31 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 68.86 | gold quality |
| neocortex | UBERON:0001950 | 68.68 | gold quality |
| right frontal lobe | UBERON:0002810 | 66.27 | gold quality |
| cerebral cortex | UBERON:0000956 | 66.07 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 66.06 | gold quality |
| saphenous vein | UBERON:0007318 | 65.79 | gold quality |
| nipple | UBERON:0002030 | 65.61 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 65.46 | gold quality |
| cardia of stomach | UBERON:0001162 | 65.29 | gold quality |
| pericardium | UBERON:0002407 | 65.26 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 65.19 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 65.15 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 65.08 | gold quality |
| parietal lobe | UBERON:0001872 | 65.07 | silver quality |
| vena cava | UBERON:0004087 | 65.05 | gold quality |
| postcentral gyrus | UBERON:0002581 | 64.99 | silver quality |
| superior surface of tongue | UBERON:0007371 | 64.92 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 64.91 | gold quality |
| body of tongue | UBERON:0011876 | 64.84 | gold quality |
| medulla oblongata | UBERON:0001896 | 64.79 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.45 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
Literature-anchored findings (GeneRIF, showing 1)
- KCNS2 mutation is associated with Essential Tremor. (PMID:29769701)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Kcns2 | ENSMUSG00000050963 |
| rattus_norvegicus | Kcns2 | ENSRNOG00000066111 |
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 KCNS2 — Q9ULS6 (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)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR003131 | T1-type_BTB | Domain |
| IPR003968 | K_chnl_volt-dep_Kv | Family |
| IPR003971 | K_chnl_volt-dep_Kv5/Kv9 | Family |
| IPR005821 | Ion_trans_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR027359 | Volt_channel_dom_sf | Homologous_superfamily |
| IPR028325 | VG_K_chnl | Family |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULS6-F1 | 81.14 | 0.41 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1296072 | Voltage gated Potassium channels |
| R-HSA-112316 | Neuronal System |
| R-HSA-1296071 | Potassium 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:
| Category | Pathways |
|---|---|
| Potassium Channels | 1 |
| Neuronal System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| transport | 2 |
| potassium channel activity | 2 |
| regulation of membrane potential | 1 |
| metal ion transport | 1 |
| protein complex oligomerization | 1 |
| potassium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| regulation of potassium ion transport | 1 |
| potassium ion transmembrane transport | 1 |
| regulation of monoatomic cation transmembrane transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| cellular process | 1 |
| voltage-gated monoatomic cation channel activity | 1 |
| ion channel regulator activity | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| monoatomic cation channel activity | 1 |
| potassium ion transmembrane transporter activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| potassium channel complex | 1 |
| plasma membrane protein complex | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
| transmembrane transporter complex | 1 |
Protein interactions and networks
STRING
1758 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNS2 | HAPLN4 | Q86UW8 | 633 |
| KCNS2 | CCDC183 | Q5T5S1 | 540 |
| KCNS2 | USP46 | P62068 | 507 |
| KCNS2 | KCNH4 | Q9UQ05 | 500 |
| KCNS2 | KCNH3 | Q9ULD8 | 487 |
| KCNS2 | SCN11A | Q9UI33 | 486 |
| KCNS2 | TENM4 | Q6N022 | 484 |
| KCNS2 | STK32B | Q9NY57 | 479 |
| KCNS2 | SCN4A | P35499 | 458 |
| KCNS2 | GPR151 | Q8TDV0 | 442 |
| KCNS2 | KCNH7 | Q9NS40 | 432 |
| KCNS2 | KCNB1 | Q14721 | 429 |
| KCNS2 | KCNU1 | A8MYU2 | 390 |
| KCNS2 | KCNK15 | Q9H427 | 385 |
| KCNS2 | KCNJ15 | Q99712 | 374 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KCNS2 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| FATE1 | KCNS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NOTCH2NLC | KCNS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | KCNS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNS2 | NOTCH2NLC | psi-mi:“MI:0915”(physical association) | 0.000 |
| KCNS2 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| KCNS2 | CYSRT1 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3245482 | NC_000008.10:g.(?99346108)(100589843_?)del | Pathogenic |
SpliceAI
163 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:98427326:CCAG:C | donor_loss | 0.9900 |
| 8:98427327:CAGG:C | donor_loss | 0.9900 |
| 8:98427329:GGTAA:G | donor_loss | 0.9900 |
| 8:98427330:G:GA | donor_loss | 0.9900 |
| 8:98427331:T:A | donor_loss | 0.9900 |
| 8:98429291:G:GT | donor_gain | 0.9900 |
| 8:98427933:TCCA:T | acceptor_loss | 0.9700 |
| 8:98427934:CCA:C | acceptor_loss | 0.9700 |
| 8:98427935:CA:C | acceptor_loss | 0.9700 |
| 8:98427936:A:AC | acceptor_loss | 0.9700 |
| 8:98429076:G:GA | donor_gain | 0.9700 |
| 8:98427330:G:GG | donor_gain | 0.9600 |
| 8:98427937:GGT:G | acceptor_gain | 0.9600 |
| 8:98429036:G:GT | donor_gain | 0.9600 |
| 8:98429089:C:A | donor_gain | 0.9600 |
| 8:98429075:T:TA | donor_gain | 0.9400 |
| 8:98429315:G:T | donor_gain | 0.9400 |
| 8:98429314:GGAC:G | donor_gain | 0.9300 |
| 8:98427287:G:T | donor_gain | 0.9200 |
| 8:98429090:A:AG | donor_gain | 0.9200 |
| 8:98429091:G:GG | donor_gain | 0.9200 |
| 8:98427287:G:GT | donor_gain | 0.9100 |
| 8:98427937:G:T | acceptor_gain | 0.8800 |
| 8:98427937:GGTGT:G | acceptor_gain | 0.8800 |
| 8:98427935:CAGG:C | acceptor_gain | 0.8700 |
| 8:98427936:A:AG | acceptor_gain | 0.8700 |
| 8:98427936:AGG:A | acceptor_gain | 0.8700 |
| 8:98427937:G:GG | acceptor_gain | 0.8700 |
| 8:98429211:A:AG | donor_gain | 0.8700 |
| 8:98427934:CCAGG:C | acceptor_gain | 0.8600 |
AlphaMissense
3160 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:98428191:T:C | F71S | 1.000 |
| 8:98428197:G:C | R73P | 1.000 |
| 8:98428301:T:A | W108R | 1.000 |
| 8:98428301:T:C | W108R | 1.000 |
| 8:98428303:G:C | W108C | 1.000 |
| 8:98428303:G:T | W108C | 1.000 |
| 8:98429078:T:A | W367R | 1.000 |
| 8:98429078:T:C | W367R | 1.000 |
| 8:98429090:A:C | S371R | 1.000 |
| 8:98429092:T:A | S371R | 1.000 |
| 8:98429092:T:G | S371R | 1.000 |
| 8:98429105:G:T | G376W | 1.000 |
| 8:98429106:G:A | G376E | 1.000 |
| 8:98429161:C:G | C394W | 1.000 |
| 8:98429171:G:C | G398R | 1.000 |
| 8:98429172:G:A | G398D | 1.000 |
| 8:98429193:C:A | P405H | 1.000 |
| 8:98429193:C:G | P405R | 1.000 |
| 8:98429216:T:C | F413L | 1.000 |
| 8:98429218:C:A | F413L | 1.000 |
| 8:98429218:C:G | F413L | 1.000 |
| 8:98428116:T:C | L46S | 0.999 |
| 8:98428156:C:G | C59W | 0.999 |
| 8:98428190:T:C | F71L | 0.999 |
| 8:98428192:C:A | F71L | 0.999 |
| 8:98428192:C:G | F71L | 0.999 |
| 8:98428196:C:A | R73S | 0.999 |
| 8:98428197:G:T | R73L | 0.999 |
| 8:98428268:T:C | C97R | 0.999 |
| 8:98428269:G:A | C97Y | 0.999 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST003991_12 | Childhood ear infection | 1.000000e-08 |
| GCST005013_62 | Childhood ear infection | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007904 | susceptibility to childhood ear infection measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536438 | Cohen 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).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 9.82 | Ki | 0.15 | nM | CHEMBL5722941 |
| 9.74 | IC50 | 0.18 | nM | CHEMBL5722941 |
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.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 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 acid | 2198828: Binding affinity to KV channel (unknown origin) assessed as inhibition constant | ki | 0.0001 | uM |
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| nutlin 3 | increases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Valproic Acid | increases methylation | 1 |
| Sodium Selenite | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
ChEMBL screening assays
21 unique, capped per target: 20 binding, 1 toxicity
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1787442 | Binding | Inhibition of human recombinant Kv channel at 10 uM by radioligand binding assay | Structure-activity relationships of pyrrole based S-nitrosoglutathione reductase inhibitors: pyrrole regioisomers and propionic acid replacement. — Bioorg Med Chem Lett |
| CHEMBL5522525 | Toxicity | Inhibition of human K+ channel by automated electrophysiology | Discovery 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):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1K3 | PrecisION hKv2.1/Kv9.2-CHO | Spontaneously immortalized cell line | Female |
| CVCL_YA70 | IDG-HEK293T-KCNS2-V5-OE | Transformed cell line | Female |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01907555 | Not specified | COMPLETED | Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Cohen syndrome