KCNV1

Summary

KCNV1 (potassium voltage-gated channel modifier subfamily V member 1, HGNC:18861) is a protein-coding gene on chromosome 8q23.2, encoding Potassium voltage-gated channel subfamily V member 1 (Q6PIU1). Potassium channel subunit that does not form functional channels by itself.

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types.

Source: NCBI Gene 27012 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 27 total
• Druggable target: yes
• MANE Select transcript: NM_014379

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18861
Approved symbol	KCNV1
Name	potassium voltage-gated channel modifier subfamily V member 1
Location	8q23.2
Locus type	gene with protein product
Status	Approved
Aliases	Kv8.1
Ensembl gene	ENSG00000164794
Ensembl biotype	protein_coding
OMIM	608164
Entrez	27012

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000297404, ENST00000524391

RefSeq mRNA: 1 — MANE Select: NM_014379 NM_014379

CCDS: CCDS6314

Canonical transcript exons

ENST00000524391 — 4 exons

Exon	Start	End
ENSE00001087537	109972258	109972787
ENSE00002150930	109963636	109968599
ENSE00002180301	109973928	109975192
ENSE00002187712	109975619	109975771

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 97.34.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9977 / max 100.4753, expressed in 145 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94436	0.3308	64
94435	0.2750	72
94432	0.1374	41
94431	0.1154	44
94437	0.0591	32
94433	0.0495	30
94434	0.0305	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.34	gold quality
prefrontal cortex	UBERON:0000451	84.02	gold quality
cortical plate	UBERON:0005343	81.74	gold quality
endothelial cell	CL:0000115	81.61	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	80.23	gold quality
Brodmann (1909) area 9	UBERON:0013540	78.95	gold quality
frontal cortex	UBERON:0001870	78.51	gold quality
frontal lobe	UBERON:0016525	78.48	gold quality
neocortex	UBERON:0001950	76.81	gold quality
superior frontal gyrus	UBERON:0002661	76.13	gold quality
right frontal lobe	UBERON:0002810	75.49	gold quality
cerebral cortex	UBERON:0000956	74.41	gold quality
Brodmann (1909) area 23	UBERON:0013554	73.87	gold quality
Brodmann (1909) area 46	UBERON:0006483	73.26	gold quality
cingulate cortex	UBERON:0003027	72.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.39	gold quality
anterior cingulate cortex	UBERON:0009835	72.11	gold quality
primary visual cortex	UBERON:0002436	71.89	gold quality
middle temporal gyrus	UBERON:0002771	71.77	gold quality
orbitofrontal cortex	UBERON:0004167	71.29	gold quality
postcentral gyrus	UBERON:0002581	70.67	gold quality
parietal lobe	UBERON:0001872	70.15	gold quality
entorhinal cortex	UBERON:0002728	70.10	gold quality
telencephalon	UBERON:0001893	69.60	gold quality
occipital lobe	UBERON:0002021	68.43	gold quality
temporal lobe	UBERON:0001871	67.67	gold quality
amygdala	UBERON:0001876	66.29	gold quality
forebrain	UBERON:0001890	65.92	gold quality
Ammon’s horn	UBERON:0001954	62.59	gold quality
brain	UBERON:0000955	61.11	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.08
E-MTAB-6379	no	123.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

178 targeting KCNV1, 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-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4789-5P	99.98	70.76	2721

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcnv1	ENSDARG00000070092
mus_musculus	Kcnv1	ENSMUSG00000022342
rattus_norvegicus	Kcnv1	ENSRNOG00000004117

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), KCNS2 (ENSG00000156486), KCNB1 (ENSG00000158445), KCNF1 (ENSG00000162975), 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

Potassium voltage-gated channel subfamily V member 1 — Q6PIU1 (reviewed: Q6PIU1)

Alternative names: Neuronal potassium channel alpha subunit HNKA, Voltage-gated potassium channel subunit Kv8.1

All UniProt accessions (1): Q6PIU1

UniProt curated annotations — full annotation on UniProt →

Function. Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes.

Subunit / interactions. Heteromultimer with KCNB1 and KCNB2. Interacts with KCNC4 and KCND1.

Subcellular location. Cell membrane.

Tissue specificity. Detected in brain.

Domain organisation. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

Similarity. Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.1/KCNV1 sub-subfamily.

RefSeq proteins (1): NP_055194* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR003131	T1-type_BTB	Domain
IPR003968	K_chnl_volt-dep_Kv	Family
IPR003970	K_chnl_volt-dep_Kv8.1	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 (17 total): topological domain 6, transmembrane region 6, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PIU1-F1	79.01	0.35

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: 114 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, RNGTGGGC_UNKNOWN, BENPORATH_ES_WITH_H3K27ME3, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, REACTOME_POTASSIUM_CHANNELS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_PROTEIN_HOMOOLIGOMERIZATION, HUANG_FOXA2_TARGETS_UP, MODULE_48, MODULE_95, GOBP_TRANSMEMBRANE_TRANSPORT, NUYTTEN_EZH2_TARGETS_DN, GOCC_POTASSIUM_CHANNEL_COMPLEX, GOBP_REGULATION_OF_MEMBRANE_POTENTIAL, GOCC_CATION_CHANNEL_COMPLEX

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

GO Molecular Function (6): voltage-gated potassium channel activity (GO:0005249), ion channel inhibitor activity (GO:0008200), potassium channel regulator activity (GO:0015459), monoatomic ion channel activity (GO:0005216), potassium channel activity (GO:0005267), protein binding (GO:0005515)

GO Cellular Component (5): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020), intercellular bridge (GO:0045171), 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
transport	2
potassium channel activity	2
ion channel regulator activity	2
cellular anatomical structure	2
regulation of membrane potential	1
metal ion transport	1
protein complex oligomerization	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
monoatomic ion transport	1
transmembrane transport	1
cellular process	1
voltage-gated monoatomic cation channel activity	1
monoatomic ion channel activity	1
channel inhibitor activity	1
transmembrane transporter binding	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
transmembrane transporter complex	1

Protein interactions and networks

STRING

1646 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNV1	KCNAB1	Q14722	746
KCNV1	KCNAB2	Q13303	633
KCNV1	KCNAB3	O43448	611
KCNV1	CA4	P22748	554
KCNV1	OR51T1	Q8NGJ9	538
KCNV1	KCNH3	Q9ULD8	500
KCNV1	KCNH7	Q9NS40	450
KCNV1	NOMO2	Q5JPE7	447
KCNV1	NOMO3	P69849	446
KCNV1	KCNT2	Q6UVM3	441
KCNV1	KCNH4	Q9UQ05	435
KCNV1	NOMO1	P78421	431
KCNV1	SYBU	Q9NX95	407
KCNV1	DENR	O43583	398
KCNV1	KCNN1	Q92952	387

IntAct

130 interactions, top by confidence:

A	B	Type	Score
SDCBP	KCNV1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	PARD3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	FRMPD3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	FRMPD4	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
GRIP2	KCNV1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	MPP7	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	HTRA3	psi-mi:“MI:0407”(direct interaction)	0.440
PTPN3	KCNV1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	GORASP2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	LIN7C	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (7): KCNV1 (Proximity Label-MS), HSPA8 (Affinity Capture-MS), BAG1 (Affinity Capture-MS), KCNV1 (Negative Genetic), KCNV1 (Negative Genetic), KCNB2 (Affinity Capture-Western), KCNB1 (Reconstituted Complex)

ESM2 similar proteins: A0JMD4, B7ZC96, F6RG56, O65718, O73606, P17971, P17972, P70259, P97557, Q00195, Q03041, Q05973, Q0P583, Q16280, Q16281, Q24278, Q28718, Q29441, Q3U2S8, Q3UW12, Q5F4C0, Q5R5V8, Q5RC10, Q60565, Q62398, Q64359, Q6PIU1, Q6Q760, Q6R6I7, Q8AYS8, Q8BWC0, Q8BXR5, Q8BZN2, Q8IV77, Q8IZF0, Q8IZK6, Q8K595, Q8TDD5, Q90980, Q94AS9

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	51.0×	2e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	48.5×	2e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	48.5×	2e-06
Long-term potentiation	5	42.5×	3e-06
Assembly and cell surface presentation of NMDA receptors	9	40.8×	8e-11
Neurexins and neuroligins	10	35.2×	4e-11
Protein-protein interactions at synapses	6	28.5×	2e-06
RHOB GTPase cycle	5	13.8×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	78.0×	3e-16
protein localization to synapse	6	56.0×	1e-07
receptor clustering	7	53.3×	1e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	42.3×	5e-08
protein-containing complex assembly	10	13.9×	2e-07
cell-cell adhesion	10	12.4×	6e-07
regulation of small GTPase mediated signal transduction	5	8.8×	6e-03
chemical synaptic transmission	8	7.5×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

552 predictions. Top by Δscore:

Variant	Effect	Δscore
8:109972788:C:CC	acceptor_gain	1.0000
8:109972789:T:C	acceptor_gain	1.0000
8:109975616:CACC:C	donor_loss	1.0000
8:109975618:C:CG	donor_loss	1.0000
8:109968595:TAATC:T	acceptor_gain	0.9900
8:109968598:TC:T	acceptor_gain	0.9900
8:109968598:TCCTG:T	acceptor_loss	0.9900
8:109968599:CC:C	acceptor_gain	0.9900
8:109968600:C:A	acceptor_loss	0.9900
8:109968600:C:CC	acceptor_gain	0.9900
8:109968601:T:A	acceptor_loss	0.9900
8:109972252:GAATA:G	donor_loss	0.9900
8:109972253:AATAC:A	donor_loss	0.9900
8:109972255:TAC:T	donor_loss	0.9900
8:109972784:GTAT:G	acceptor_gain	0.9900
8:109972785:TAT:T	acceptor_gain	0.9900
8:109972789:T:TC	acceptor_gain	0.9900
8:109972791:T:C	acceptor_gain	0.9900
8:109972791:T:TC	acceptor_gain	0.9900
8:109975617:A:AC	donor_gain	0.9900
8:109975618:C:CC	donor_gain	0.9900
8:109975618:CCTG:C	donor_gain	0.9900
8:109968128:G:A	donor_gain	0.9800
8:109968597:ATC:A	acceptor_gain	0.9800
8:109972258:C:A	donor_loss	0.9800
8:109972306:TCAAC:T	donor_gain	0.9800
8:109972510:A:AC	donor_gain	0.9800
8:109972511:C:CC	donor_gain	0.9800
8:109972513:C:CA	donor_gain	0.9800
8:109972786:AT:A	acceptor_gain	0.9800

AlphaMissense

3262 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:109968438:A:G	W385R	1.000
8:109968438:A:T	W385R	1.000
8:109973969:C:A	W140C	1.000
8:109973969:C:G	W140C	1.000
8:109973971:A:G	W140R	1.000
8:109973971:A:T	W140R	1.000
8:109968298:G:C	F431L	0.999
8:109968298:G:T	F431L	0.999
8:109968300:A:G	F431L	0.999
8:109968323:G:C	P423R	0.999
8:109968323:G:T	P423H	0.999
8:109968344:C:T	G416E	0.999
8:109968345:C:G	G416R	0.999
8:109968345:C:T	G416R	0.999
8:109968355:A:C	C412W	0.999
8:109968357:A:G	C412R	0.999
8:109968377:C:A	G405V	0.999
8:109968392:G:T	P400Q	0.999
8:109968393:G:A	P400S	0.999
8:109968404:C:A	G396V	0.999
8:109968404:C:T	G396E	0.999
8:109968405:C:A	G396W	0.999
8:109968410:C:T	G394E	0.999
8:109968411:C:G	G394R	0.999
8:109968411:C:T	G394R	0.999
8:109968425:G:A	S389F	0.999
8:109968425:G:T	S389Y	0.999
8:109968436:C:A	W385C	0.999
8:109968436:C:G	W385C	0.999
8:109968441:A:G	W384R	0.999

dbSNP variants (sampled 300 via entrez): RS1000013428 (8:109964619 A>G), RS1000069539 (8:109971826 A>G), RS1000484986 (8:109966822 T>A), RS1000536136 (8:109964859 G>A), RS1000789197 (8:109974091 C>G,T), RS1001071321 (8:109973577 C>T), RS1001323127 (8:109974986 C>A), RS1001391667 (8:109975743 G>C), RS1001573483 (8:109977100 C>G,T), RS1001807399 (8:109963436 A>G), RS1001884527 (8:109970053 T>A), RS1001904620 (8:109963370 C>T), RS1002356801 (8:109976782 A>C,G), RS1002521669 (8:109976851 G>A), RS1002906488 (8:109969788 T>C,G)

Disease associations

OMIM: gene MIM:608164 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST002539_75	Schizophrenia	3.000000e-11
GCST004071_13	Cerebrospinal T-tau levels	5.000000e-06
GCST004946_125	Schizophrenia	4.000000e-10
GCST005790_11	Rosacea symptom severity	4.000000e-06
GCST005790_12	Rosacea symptom severity	4.000000e-06
GCST005790_13	Rosacea symptom severity	8.000000e-06
GCST006803_85	Schizophrenia	4.000000e-12
GCST009391_182	Metabolite levels	8.000000e-06
GCST009391_2145	Metabolite levels	6.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004760	t-tau measurement
EFO:0009180	rosacea severity measurement
EFO:0010476	dimethylglycine measurement
EFO:0010551	xanthurenate measurement

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 (K_v)

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

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	6
trichostatin A	affects cotreatment, increases expression	3
Aflatoxin B1	affects expression, increases expression, increases methylation	3
sodium arsenite	decreases expression, affects methylation, affects splicing	2
Benzo(a)pyrene	increases methylation, increases expression	2
methyleugenol	increases expression	1
propionaldehyde	increases expression	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	increases expression	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
4-nonylphenol	affects cotreatment, decreases expression	1
4-tert-octylphenol	affects cotreatment, decreases 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
Sunitinib	decreases expression	1
Panobinostat	affects cotreatment, increases expression	1
Citrulline	increases expression	1
Estradiol	increases expression	1
Lipopolysaccharides	affects response to substance, affects cotreatment, increases expression	1
N-Nitrosopyrrolidine	increases expression	1
Niclosamide	decreases expression	1
Okadaic Acid	increases expression	1
S-Nitrosoglutathione	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

Clinical trials (associated diseases)

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