KCNH4
gene geneOn this page
Also known as Kv12.3elk1
Summary
KCNH4 (potassium voltage-gated channel subfamily H member 4, HGNC:6253) is a protein-coding gene on chromosome 17q21.2, encoding Voltage-gated delayed rectifier potassium channel KCNH4 (Q9UQ05). Pore-forming (alpha) subunit of a voltage-gated delayed rectifier.
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 channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system.
Source: NCBI Gene 23415 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 214 total
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_012285
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6253 |
| Approved symbol | KCNH4 |
| Name | potassium voltage-gated channel subfamily H member 4 |
| Location | 17q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Kv12.3, elk1 |
| Ensembl gene | ENSG00000089558 |
| Ensembl biotype | protein_coding |
| OMIM | 604528 |
| Entrez | 23415 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000264661, ENST00000607371
RefSeq mRNA: 1 — MANE Select: NM_012285
NM_012285
CCDS: CCDS11420
Canonical transcript exons
ENST00000264661 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001059058 | 42175579 | 42175736 |
| ENSE00001059059 | 42171788 | 42171995 |
| ENSE00001059060 | 42170107 | 42170301 |
| ENSE00001059063 | 42178100 | 42178227 |
| ENSE00001059065 | 42178331 | 42178477 |
| ENSE00001059066 | 42176054 | 42176297 |
| ENSE00001059067 | 42178793 | 42179026 |
| ENSE00001136932 | 42180870 | 42181142 |
| ENSE00001179445 | 42162248 | 42162321 |
| ENSE00001179452 | 42163228 | 42163334 |
| ENSE00001179483 | 42164130 | 42164168 |
| ENSE00001179498 | 42166297 | 42166546 |
| ENSE00001179505 | 42169477 | 42169676 |
| ENSE00001231223 | 42163606 | 42163958 |
| ENSE00001231237 | 42165449 | 42165693 |
| ENSE00001231300 | 42159731 | 42160435 |
| ENSE00003696982 | 42156891 | 42157118 |
Expression profiles
Bgee: expression breadth broad, 96 present calls, max score 82.80.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1764 / max 36.3058, expressed in 77 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 166111 | 0.1072 | 53 |
| 166110 | 0.0692 | 36 |
Top tissues by expression
215 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 82.80 | gold quality |
| putamen | UBERON:0001874 | 77.67 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.97 | silver quality |
| caudate nucleus | UBERON:0001873 | 75.46 | gold quality |
| nucleus accumbens | UBERON:0001882 | 73.02 | gold quality |
| myocardium | UBERON:0002349 | 69.28 | gold quality |
| prefrontal cortex | UBERON:0000451 | 68.32 | gold quality |
| right frontal lobe | UBERON:0002810 | 66.37 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 64.36 | gold quality |
| frontal cortex | UBERON:0001870 | 63.52 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 63.10 | gold quality |
| primary visual cortex | UBERON:0002436 | 63.05 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 62.97 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 62.13 | gold quality |
| neocortex | UBERON:0001950 | 61.54 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 60.36 | gold quality |
| biceps brachii | UBERON:0001507 | 60.16 | gold quality |
| forebrain | UBERON:0001890 | 58.81 | gold quality |
| cerebral cortex | UBERON:0000956 | 57.81 | gold quality |
| secondary oocyte | CL:0000655 | 57.39 | gold quality |
| superficial temporal artery | UBERON:0001614 | 57.29 | gold quality |
| occipital lobe | UBERON:0002021 | 57.24 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 57.08 | gold quality |
| heart right ventricle | UBERON:0002080 | 57.01 | gold quality |
| gingiva | UBERON:0001828 | 56.91 | gold quality |
| vastus lateralis | UBERON:0001379 | 56.61 | gold quality |
| quadriceps femoris | UBERON:0001377 | 56.25 | gold quality |
| oral cavity | UBERON:0000167 | 56.10 | gold quality |
| medial globus pallidus | UBERON:0002477 | 55.95 | gold quality |
| vermiform appendix | UBERON:0001154 | 55.41 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.08 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting KCNH4, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-3147 | 99.52 | 66.34 | 388 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-6507-3P | 99.35 | 67.32 | 1059 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-4716-5P | 98.82 | 68.57 | 1168 |
| HSA-MIR-4763-5P | 98.75 | 63.89 | 854 |
| HSA-MIR-198 | 98.70 | 67.32 | 920 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Cross-species orthologs
15 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kcnh4b | ENSDARG00000061990 |
| danio_rerio | kcnh4a | ENSDARG00000062565 |
| mus_musculus | Kcnh4 | ENSMUSG00000035355 |
| rattus_norvegicus | Kcnh4 | ENSRNOG00000018790 |
| drosophila_melanogaster | sei | FBGN0003353 |
| drosophila_melanogaster | Elk | FBGN0011589 |
| drosophila_melanogaster | CG6026 | FBGN0038676 |
| drosophila_melanogaster | CngA | FBGN0261612 |
| drosophila_melanogaster | Cngl | FBGN0263257 |
| drosophila_melanogaster | CngB | FBGN0266346 |
| caenorhabditis_elegans | WBGENE00000487 | |
| caenorhabditis_elegans | tax-2 | WBGENE00006525 |
| caenorhabditis_elegans | WBGENE00006526 | |
| caenorhabditis_elegans | WBGENE00006830 | |
| caenorhabditis_elegans | WBGENE00022295 |
Paralogs (17): KCNH2 (ENSG00000055118), CNGB1 (ENSG00000070729), HCN2 (ENSG00000099822), CNGA4 (ENSG00000132259), KCNH3 (ENSG00000135519), HCN4 (ENSG00000138622), KCNH5 (ENSG00000140015), KCNH1 (ENSG00000143473), HCN3 (ENSG00000143630), CNGA3 (ENSG00000144191), HCN1 (ENSG00000164588), CNGB3 (ENSG00000170289), KCNH6 (ENSG00000173826), CNGA2 (ENSG00000183862), KCNH8 (ENSG00000183960), KCNH7 (ENSG00000184611), CNGA1 (ENSG00000198515)
Protein
Protein identifiers
Voltage-gated delayed rectifier potassium channel KCNH4 — Q9UQ05 (reviewed: Q9UQ05)
Alternative names: Brain-specific eag-like channel 2, Ether-a-go-go-like potassium channel 1, Potassium voltage-gated channel subfamily H member 4, Voltage-gated potassium channel subunit Kv12.3
All UniProt accessions (1): Q9UQ05
UniProt curated annotations — full annotation on UniProt →
Function. Pore-forming (alpha) subunit of a voltage-gated delayed rectifier. Activates at more negative voltages, exhibits fast prepulse-independent activation kinetics and deactivates much more slowly, but shows no inactivation.
Subunit / interactions. The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits.
Subcellular location. Membrane.
Tissue specificity. Detected only in brain, in particular in the telencephalon. Detected in putamen and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus.
Similarity. Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.3/KCNH4 sub-subfamily.
RefSeq proteins (1): NP_036417* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000014 | PAS | Domain |
| IPR000595 | cNMP-bd_dom | Domain |
| IPR000700 | PAS-assoc_C | Domain |
| IPR001610 | PAC | Repeat |
| IPR003938 | K_chnl_volt-dep_EAG/ELK/ERG | Family |
| IPR003950 | K_chnl_volt-dep_ELK | Family |
| IPR005821 | Ion_trans_dom | Domain |
| IPR014710 | RmlC-like_jellyroll | Homologous_superfamily |
| IPR018490 | cNMP-bd_dom_sf | Homologous_superfamily |
| IPR035965 | PAS-like_dom_sf | Homologous_superfamily |
| IPR050818 | KCNH_animal-type | Family |
Pfam: PF00520, PF13426
Catalyzed reactions (Rhea), 1 shown:
- K(+)(in) = K(+)(out) (RHEA:29463)
UniProt features (34 total): topological domain 8, transmembrane region 6, region of interest 6, compositionally biased region 5, glycosylation site 3, domain 2, chain 1, intramembrane region 1, short sequence motif 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UQ05-F1 | 67.69 | 0.26 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (3): 326, 414, 473
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: 388 (showing top):
PID_BCR_5PATHWAY, GOBP_POTASSIUM_ION_TRANSPORT, RNGTGGGC_UNKNOWN, GOBP_RESPONSE_TO_ETHANOL, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_RESPONSE_TO_IONIZING_RADIATION, BIOCARTA_FMLP_PATHWAY, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_CELLULAR_RESPONSE_TO_LIPID, REACTOME_POTASSIUM_CHANNELS, KEGG_MAPK_SIGNALING_PATHWAY, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, AAGCCAT_MIR135A_MIR135B
GO Biological Process (6): potassium ion transport (GO:0006813), regulation of membrane potential (GO:0042391), potassium ion transmembrane transport (GO:0071805), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)
GO Molecular Function (3): voltage-gated potassium channel activity (GO:0005249), monoatomic ion channel activity (GO:0005216), potassium channel activity (GO:0005267)
GO Cellular Component (4): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020), 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 |
| metal ion transport | 1 |
| monoatomic ion transmembrane transport | 1 |
| regulation of biological quality | 1 |
| potassium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| cellular process | 1 |
| potassium channel activity | 1 |
| voltage-gated monoatomic cation channel activity | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| monoatomic cation channel activity | 1 |
| potassium ion transmembrane transporter activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| potassium channel complex | 1 |
| plasma membrane protein complex | 1 |
| cellular anatomical structure | 1 |
| transmembrane transporter complex | 1 |
Protein interactions and networks
STRING
820 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNH4 | DHX58 | Q96C10 | 695 |
| KCNH4 | GHDC | Q8N2G8 | 549 |
| KCNH4 | HCRT | O43612 | 506 |
| KCNH4 | KCNS2 | Q9ULS6 | 500 |
| KCNH4 | KCNG1 | Q9UIX4 | 491 |
| KCNH4 | KAT2A | Q92830 | 478 |
| KCNH4 | KCNF1 | Q9H3M0 | 476 |
| KCNH4 | NRSN1 | Q8IZ57 | 436 |
| KCNH4 | KCNV1 | Q6PIU1 | 435 |
| KCNH4 | STAT5B | P51692 | 420 |
| KCNH4 | ARHGAP9 | Q9BRR9 | 418 |
| KCNH4 | CAMK2N1 | Q7Z7J9 | 405 |
| KCNH4 | RNF214 | Q8ND24 | 404 |
| KCNH4 | KCNG3 | Q8TAE7 | 403 |
| KCNH4 | NGEF | Q8N5V2 | 398 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| KCNH4 | ARFGEF2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): KCNH4 (Affinity Capture-RNA), KCNH4 (Affinity Capture-RNA), ARFGEF2 (Affinity Capture-MS), TUBB7P (Affinity Capture-MS), ARFGEF1 (Affinity Capture-MS), KCNH4 (Negative Genetic), KCNH4 (Negative Genetic), KCNH4 (Negative Genetic), KCNH5 (Negative Genetic), KCNH6 (Negative Genetic), KCNH8 (Negative Genetic)
ESM2 similar proteins: G5EFJ9, O08703, O08962, O35219, O54852, O54853, O60307, O70344, O88427, O88943, O89047, O95622, P0C550, P40144, P51787, P58126, P59111, P84309, P97414, Q02280, Q02343, Q04400, Q0JKV1, Q12809, Q15878, Q5RDS0, Q61290, Q6ZV29, Q810W7, Q8H569, Q8IY17, Q8WNY2, Q96L42, Q9EQ60, Q9ER47, Q9H252, Q9MYS6, Q9NR82, Q9NS40, Q9PT84
Diamond homologs: A0A364LYQ6, A2XKR7, A6X554, B0G188, B8AX51, O34627, O48963, O49741, O49743, O64511, O65515, O82632, O89047, P58724, P69781, P93025, Q00858, Q01371, Q02280, Q10F25, Q1M667, Q2NB77, Q2NB98, Q2NCA3, Q2QYY8, Q2R2W1, Q2RBR1, Q48IV1, Q4ZSY3, Q54HA4, Q54KX0, Q54NM5, Q54TE3, Q54TM6, Q550D5, Q55C49, Q55GK0, Q59LY1, Q5HZ36, Q5Z8K3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
214 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 160 |
| Likely benign | 10 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3093 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:42165448:CA:C | donor_gain | 1.0000 |
| 17:42166291:CCTTA:C | donor_loss | 1.0000 |
| 17:42166292:CTTA:C | donor_loss | 1.0000 |
| 17:42166293:TTA:T | donor_loss | 1.0000 |
| 17:42166294:TA:T | donor_loss | 1.0000 |
| 17:42166295:A:AT | donor_loss | 1.0000 |
| 17:42166295:AC:A | donor_gain | 1.0000 |
| 17:42166296:CC:C | donor_gain | 1.0000 |
| 17:42166547:C:CC | acceptor_gain | 1.0000 |
| 17:42169473:CTA:C | donor_loss | 1.0000 |
| 17:42169474:TACCT:T | donor_loss | 1.0000 |
| 17:42169475:A:AC | donor_gain | 1.0000 |
| 17:42169475:A:AT | donor_loss | 1.0000 |
| 17:42169476:C:CC | donor_gain | 1.0000 |
| 17:42169476:CC:C | donor_loss | 1.0000 |
| 17:42169476:CCT:C | donor_gain | 1.0000 |
| 17:42169478:T:TA | donor_gain | 1.0000 |
| 17:42171993:GGT:G | acceptor_gain | 1.0000 |
| 17:42171994:GT:G | acceptor_gain | 1.0000 |
| 17:42171995:TCT:T | acceptor_loss | 1.0000 |
| 17:42171996:C:CC | acceptor_gain | 1.0000 |
| 17:42171997:T:C | acceptor_loss | 1.0000 |
| 17:42175572:CACT:C | donor_loss | 1.0000 |
| 17:42175573:ACTC:A | donor_loss | 1.0000 |
| 17:42175574:CTCA:C | donor_loss | 1.0000 |
| 17:42175575:TCA:T | donor_loss | 1.0000 |
| 17:42175576:C:CG | donor_loss | 1.0000 |
| 17:42175577:A:AC | donor_gain | 1.0000 |
| 17:42175577:A:AT | donor_loss | 1.0000 |
| 17:42175578:C:CC | donor_gain | 1.0000 |
AlphaMissense
6543 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:42170171:A:C | F442L | 1.000 |
| 17:42170171:A:T | F442L | 1.000 |
| 17:42170173:A:G | F442L | 1.000 |
| 17:42170180:A:C | S439R | 1.000 |
| 17:42170180:A:T | S439R | 1.000 |
| 17:42170182:T:G | S439R | 1.000 |
| 17:42170189:G:C | S436R | 1.000 |
| 17:42170189:G:T | S436R | 1.000 |
| 17:42170191:T:G | S436R | 1.000 |
| 17:42169654:G:C | F471L | 0.999 |
| 17:42169654:G:T | F471L | 0.999 |
| 17:42169656:A:G | F471L | 0.999 |
| 17:42170109:C:T | G463D | 0.999 |
| 17:42170165:G:C | N444K | 0.999 |
| 17:42170165:G:T | N444K | 0.999 |
| 17:42170169:C:A | G443V | 0.999 |
| 17:42170169:C:T | G443D | 0.999 |
| 17:42170172:A:C | F442C | 0.999 |
| 17:42170175:C:T | G441D | 0.999 |
| 17:42170176:C:G | G441R | 0.999 |
| 17:42170192:G:C | S435R | 0.999 |
| 17:42170192:G:T | S435R | 0.999 |
| 17:42170194:T:G | S435R | 0.999 |
| 17:42170297:C:A | W400C | 0.999 |
| 17:42170297:C:G | W400C | 0.999 |
| 17:42170299:A:G | W400R | 0.999 |
| 17:42170299:A:T | W400R | 0.999 |
| 17:42178957:A:G | F49S | 0.999 |
| 17:42166350:A:T | V596D | 0.998 |
| 17:42169583:A:G | L495P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000010324 (17:42178144 C>G,T), RS1000293921 (17:42173033 C>T), RS1000385284 (17:42161174 C>T), RS1000386312 (17:42167081 C>T), RS1000457651 (17:42165367 G>A,T), RS1000664315 (17:42159472 G>A), RS1000665374 (17:42159771 C>A), RS1000686714 (17:42172665 G>A), RS1000734032 (17:42160995 C>A,G,T), RS1000960099 (17:42159638 T>C), RS1001074741 (17:42165820 G>A,C,T), RS1001077720 (17:42177943 C>G), RS1001104185 (17:42166166 C>A,T), RS1001129438 (17:42168221 G>A), RS1001543495 (17:42178154 G>A)
Disease associations
OMIM: gene MIM:604528 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004278_32 | Pulse pressure | 3.000000e-09 |
| GCST004278_41 | Pulse pressure | 6.000000e-08 |
| GCST004278_63 | Pulse pressure | 3.000000e-09 |
| GCST004278_71 | Pulse pressure | 4.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure 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 (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
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| benzo(e)pyrene | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Ivermectin | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Sodium Selenite | decreases expression | 1 |
| Coal Ash | 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.