KCNK17
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Also known as K2p17.1TALK-2TALK2TASK4TASK-4
Summary
KCNK17 (potassium two pore domain channel subfamily K member 17, HGNC:14465) is a protein-coding gene on chromosome 6p21.2, encoding Potassium channel subfamily K member 17 (Q96T54). K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization.
The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 89822 — RefSeq curated summary.
At a glance
- Gene–disease (curated): heart conduction disease (Limited, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 66 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_031460
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14465 |
| Approved symbol | KCNK17 |
| Name | potassium two pore domain channel subfamily K member 17 |
| Location | 6p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | K2p17.1, TALK-2, TALK2, TASK4, TASK-4 |
| Ensembl gene | ENSG00000124780 |
| Ensembl biotype | protein_coding |
| OMIM | 607370 |
| Entrez | 89822 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron
ENST00000373231, ENST00000453413, ENST00000503878, ENST00000884805, ENST00000884806, ENST00000884807, ENST00000969858
RefSeq mRNA: 2 — MANE Select: NM_031460
NM_001135111, NM_031460
CCDS: CCDS47419, CCDS4842
Canonical transcript exons
ENST00000373231 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000849838 | 39303957 | 39304131 |
| ENSE00000849839 | 39304495 | 39304655 |
| ENSE00001814406 | 39299001 | 39299737 |
| ENSE00002021329 | 39314084 | 39314419 |
| ENSE00003522284 | 39310893 | 39311007 |
Expression profiles
Bgee: expression breadth ubiquitous, 140 present calls, max score 87.05.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5000 / max 115.2183, expressed in 146 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73475 | 0.4229 | 134 |
| 73476 | 0.0720 | 26 |
| 73477 | 0.0050 | 2 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ascending aorta | UBERON:0001496 | 87.05 | gold quality |
| thoracic aorta | UBERON:0001515 | 86.90 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 86.40 | gold quality |
| tibialis anterior | UBERON:0001385 | 80.80 | silver quality |
| right coronary artery | UBERON:0001625 | 80.43 | gold quality |
| islet of Langerhans | UBERON:0000006 | 79.62 | gold quality |
| left coronary artery | UBERON:0001626 | 79.20 | gold quality |
| right lung | UBERON:0002167 | 79.01 | gold quality |
| coronary artery | UBERON:0001621 | 78.44 | gold quality |
| upper lobe of lung | UBERON:0008948 | 75.42 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 75.42 | gold quality |
| lower lobe of lung | UBERON:0008949 | 74.57 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 74.50 | gold quality |
| ileal mucosa | UBERON:0000331 | 74.47 | silver quality |
| tibia | UBERON:0000979 | 73.58 | gold quality |
| right atrium auricular region | UBERON:0006631 | 73.15 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 72.90 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 72.75 | gold quality |
| cardiac atrium | UBERON:0002081 | 72.72 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 71.99 | gold quality |
| thyroid gland | UBERON:0002046 | 71.54 | gold quality |
| parotid gland | UBERON:0001831 | 71.39 | silver quality |
| pancreas | UBERON:0001264 | 71.02 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 70.98 | gold quality |
| right lobe of liver | UBERON:0001114 | 70.83 | gold quality |
| aorta | UBERON:0000947 | 70.77 | gold quality |
| granulocyte | CL:0000094 | 70.60 | gold quality |
| lung | UBERON:0002048 | 69.06 | gold quality |
| body of pancreas | UBERON:0001150 | 68.59 | gold quality |
| secondary oocyte | CL:0000655 | 67.61 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9067 | yes | 12.01 |
| E-ANND-3 | no | 2.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting KCNK17, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| 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-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-363-5P | 99.46 | 64.51 | 1015 |
| HSA-MIR-2392 | 99.43 | 67.50 | 708 |
| HSA-MIR-593-3P | 99.22 | 67.28 | 1327 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-12125 | 98.59 | 67.54 | 1044 |
| HSA-MIR-1262 | 98.17 | 66.52 | 757 |
| HSA-MIR-4701-3P | 98.17 | 66.25 | 788 |
| HSA-MIR-6736-5P | 98.17 | 66.43 | 760 |
| HSA-MIR-8071 | 95.69 | 64.93 | 484 |
| HSA-MIR-1468-5P | 94.18 | 69.04 | 176 |
| HSA-MIR-6879-3P | 93.93 | 64.00 | 759 |
| HSA-MIR-6741-5P | 93.86 | 63.06 | 437 |
| HSA-MIR-6743-3P | 80.87 | 61.31 | 50 |
Literature-anchored findings (GeneRIF, showing 7)
- The A allele of the rs10947803 variant of KCNK17 was associated with increased risk of IS and increased levels of KCNK17 gene expression. (PMID:19647252)
- The rs10947803 SNP (A allele) in KCNK17 increases the risk of cerebral hemorrhage but not ischemic stroke in the Chinese population. (PMID:23391755)
- This study demonstrates that Gly88 is a crucial residue for normal TASK-4 gating behavior and that the channel is strongly expressed in the cardiac conduction system. (PMID:24972929)
- The T carrier of an single-nucleotide polymorphism is associated with reduced risk of cerebral hemorrhage in the Chinese population. (PMID:25179130)
- The results suggested that heterodimerization of TASK1 and TALK2 provides cells with the ability to make multiple responses to a variety of physiological and pharmacological stimuli. (PMID:29016681)
- 2 novel gene variants in REM2 and KCNK17 that provide a physiologically plausible explanation for variable expressivity in a large subset of patients in a multigenerational long QT syndrome type 2 family (PMID:29431731)
- Ion occupancy of the selectivity filter controls opening of a cytoplasmic gate in the K2P channel TALK-2. (PMID:39215031)
Cross-species orthologs
18 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kcnk12l | ENSDARG00000057037 |
| danio_rerio | si:ch211-261a10.5 | ENSDARG00000097085 |
| drosophila_melanogaster | Ork1 | FBGN0017561 |
| drosophila_melanogaster | sand | FBGN0033257 |
| drosophila_melanogaster | Task7 | FBGN0037690 |
| drosophila_melanogaster | Task6 | FBGN0038165 |
| drosophila_melanogaster | CG10864 | FBGN0038621 |
| drosophila_melanogaster | CG34396 | FBGN0085425 |
| drosophila_melanogaster | CG42340 | FBGN0259242 |
| drosophila_melanogaster | CG42594 | FBGN0260971 |
| caenorhabditis_elegans | WBGENE00006661 | |
| caenorhabditis_elegans | WBGENE00006674 | |
| caenorhabditis_elegans | WBGENE00006675 | |
| caenorhabditis_elegans | WBGENE00006679 | |
| caenorhabditis_elegans | WBGENE00006685 | |
| caenorhabditis_elegans | WBGENE00006686 | |
| caenorhabditis_elegans | WBGENE00006695 | |
| caenorhabditis_elegans | WBGENE00006696 |
Paralogs (14): KCNK2 (ENSG00000082482), KCNK16 (ENSG00000095981), KCNK6 (ENSG00000099337), KCNK10 (ENSG00000100433), KCNK15 (ENSG00000124249), KCNK1 (ENSG00000135750), KCNK13 (ENSG00000152315), KCNK5 (ENSG00000164626), KCNK9 (ENSG00000169427), KCNK3 (ENSG00000171303), KCNK7 (ENSG00000173338), KCNK4 (ENSG00000182450), KCNK12 (ENSG00000184261), KCNK18 (ENSG00000186795)
Protein
Protein identifiers
Potassium channel subfamily K member 17 — Q96T54 (reviewed: Q96T54)
Alternative names: 2P domain potassium channel Talk-2, Acid-sensitive potassium channel protein TASK-4, TWIK-related acid-sensitive K(+) channel 4, TWIK-related alkaline pH-activated K(+) channel 2
All UniProt accessions (1): Q96T54
UniProt curated annotations — full annotation on UniProt →
Function. K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an ‘ion flux gating’ mode where outward but not inward ion flow opens the gate. Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties. Present in the cardiac conduction system where it may regulate action potential duration and beating frequency of cardiac myocytes. Permeable to other monovalent cations such as Rb(+) and Cs(+).
Subunit / interactions. Homodimer; disulfide-linked. Heterodimer with KCNK5 and KCNK16.
Subcellular location. Cell membrane.
Tissue specificity. Widely expressed. Highly expressed in aorta and coronary artery. Expressed in pancreas, in both endocrine (alpha, beta, gamma, delta, and epsilon) and exocrine (acinar and ductal) cells.
Activity regulation. Inhibited by Ba(2+), quinidine, chloroform and halothane. Activated at alkaline pH. Activated by quinine and isoflurane.
Domain organisation. The pore-forming domains 1 and 2 assemble to form a single pore in which M2 and M4 transmembrane helices line the central cavity and M1 and M3 face the lipid bilayer. The transmembrane helices are bridged by the selectivity filters 1 and 2 carrying a signature sequence TxTTxGYGD that coordinate the permeant ions. Up to four ions can simultaneously occupy the selectivity filter and at least two elementary charges must translocate across the filter to convert it into the open conformation.
Similarity. Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96T54-3 | 1 | yes |
| Q96T54-4 | 2 |
RefSeq proteins (2): NP_001128583, NP_113648* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003092 | 2pore_dom_K_chnl_TASK | Family |
| IPR003280 | 2pore_dom_K_chnl | Family |
| IPR013099 | K_chnl_dom | Domain |
Pfam: PF07885
Catalyzed reactions (Rhea), 3 shown:
- K(+)(in) = K(+)(out) (RHEA:29463)
- Rb(+)(in) = Rb(+)(out) (RHEA:78547)
- Cs(+)(in) = Cs(+)(out) (RHEA:78555)
UniProt features (38 total): binding site 14, transmembrane region 4, sequence variant 4, topological domain 3, region of interest 3, mutagenesis site 3, glycosylation site 2, intramembrane region 2, chain 1, disulfide bond 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96T54-F1 | 77.25 | 0.44 |
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 (14): 116; 116; 117; 117; 118; 118; 119; 221; 221; 222; 222; 223 …
Disulfide bonds (1): 68
Glycosylation sites (2): 65, 94
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 88 | slightly increased current conductance when compared to wild-type. |
| 88 | 3.6-fold increased current conductance when compared to wild-type. |
| 88 | 7.3-fold increased current conductance when compared to wild-type. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-1299361 | TWIK-related alkaline pH activated K+ channel (TALK) |
| R-HSA-5576886 | Phase 4 - resting membrane potential |
| R-HSA-112316 | Neuronal System |
| R-HSA-1296071 | Potassium Channels |
| R-HSA-1296346 | Tandem pore domain potassium channels |
| R-HSA-397014 | Muscle contraction |
| R-HSA-5576891 | Cardiac conduction |
MSigDB gene sets: 65 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, BENPORATH_ES_WITH_H3K27ME3, REACTOME_TANDEM_PORE_DOMAIN_POTASSIUM_CHANNELS, REACTOME_POTASSIUM_CHANNELS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_TRANSPORTER_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOMF_NARROW_PORE_CHANNEL_ACTIVITY, GOMF_PROTEIN_HETERODIMERIZATION_ACTIVITY, GOMF_VOLTAGE_GATED_MONOATOMIC_CATION_CHANNEL_ACTIVITY, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_GATED_CHANNEL_ACTIVITY, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY
GO Biological Process (4): potassium ion transport (GO:0006813), potassium ion transmembrane transport (GO:0071805), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220)
GO Molecular Function (6): potassium channel activity (GO:0005267), outward rectifier potassium channel activity (GO:0015271), potassium ion leak channel activity (GO:0022841), metal ion binding (GO:0046872), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), monoatomic ion channel complex (GO:0034702), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Tandem pore domain potassium channels | 1 |
| Cardiac conduction | 1 |
| Neuronal System | 1 |
| Potassium Channels | 1 |
| Muscle contraction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metal ion transport | 1 |
| potassium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| monoatomic cation channel activity | 1 |
| potassium ion transmembrane transporter activity | 1 |
| voltage-gated potassium channel activity | 1 |
| potassium channel activity | 1 |
| leak channel activity | 1 |
| cation binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| transmembrane transporter complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
520 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNK17 | KRT76 | Q01546 | 720 |
| KCNK17 | KCNK18 | Q7Z418 | 697 |
| KCNK17 | PRKACB | P22694 | 506 |
| KCNK17 | KCNH8 | Q96L42 | 496 |
| KCNK17 | DPY19L4 | Q7Z388 | 493 |
| KCNK17 | KCNC2 | Q96PR1 | 493 |
| KCNK17 | PRKACA | P17612 | 490 |
| KCNK17 | PRKACG | P22612 | 485 |
| KCNK17 | TMEM9B | Q9NQ34 | 473 |
| KCNK17 | CCNQ | Q8N1B3 | 462 |
| KCNK17 | NOC4L | Q9BVI4 | 460 |
| KCNK17 | KCNJ1 | P48048 | 459 |
| KCNK17 | VWA7 | Q9Y334 | 458 |
| KCNK17 | GK5 | Q6ZS86 | 449 |
| KCNK17 | SAYSD1 | Q9NPB0 | 447 |
IntAct
0 interactions, top by confidence:
BioGRID (1): KCNK17 (Two-hybrid)
ESM2 similar proteins: A1L1C2, A2RRU4, A6QM06, A6QP75, E1BE10, E2RD63, G5E872, O75888, P29376, P70295, P97260, Q12770, Q1LZ97, Q28DT3, Q2M2I3, Q3TAA7, Q3U5Q7, Q3ZCA1, Q4FZD7, Q5EBM0, Q5MNU5, Q5SWZ9, Q60I26, Q60I27, Q69Z89, Q6AZ51, Q6GQT6, Q6IN84, Q6NUI2, Q6P9U1, Q7Z6J9, Q8BH06, Q8BTM9, Q8C0R7, Q8IYL2, Q8N1F8, Q8N2A8, Q8NAC3, Q8NFR9, Q8TDF6
Diamond homologs: G3V8R8, G3V8V5, G5E845, O00180, O08581, O14649, O17185, O35111, O54912, O88454, O95069, O95279, P57789, P97438, Q0P5A0, Q23435, Q3LS21, Q3TBV4, Q5RD07, Q5UE96, Q5VSE6, Q63ZI0, Q6Q1P3, Q6VV64, Q7Z418, Q8BUW1, Q8R454, Q8R5I0, Q920B6, Q96T54, Q96T55, Q9ERS1, Q9ES08, Q9H427, Q9HB14, Q9HB15, Q9JIS4, Q9JL58, Q9NPC2, Q9NYG8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 55 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 132903 | NM_031460.4(KCNK17):c.262G>A (p.Gly88Arg) | Likely pathogenic |
SpliceAI
1144 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:39304532:ACTC:A | donor_gain | 1.0000 |
| 6:39304533:CTCC:C | donor_gain | 1.0000 |
| 6:39304535:C:CA | donor_gain | 1.0000 |
| 6:39299735:TTC:T | acceptor_gain | 0.9900 |
| 6:39299735:TTCC:T | acceptor_loss | 0.9900 |
| 6:39299736:TCCTG:T | acceptor_loss | 0.9900 |
| 6:39299738:C:CG | acceptor_loss | 0.9900 |
| 6:39299739:T:A | acceptor_loss | 0.9900 |
| 6:39303146:A:AC | donor_gain | 0.9900 |
| 6:39303147:C:CC | donor_gain | 0.9900 |
| 6:39303951:TCTCA:T | donor_loss | 0.9900 |
| 6:39303952:CTCAC:C | donor_loss | 0.9900 |
| 6:39303953:TCA:T | donor_loss | 0.9900 |
| 6:39303954:CA:C | donor_loss | 0.9900 |
| 6:39303955:A:C | donor_loss | 0.9900 |
| 6:39303956:CCAA:C | donor_gain | 0.9900 |
| 6:39303956:CCAAT:C | donor_gain | 0.9900 |
| 6:39303966:AGTCG:A | donor_gain | 0.9900 |
| 6:39310886:CCCTT:C | donor_loss | 0.9900 |
| 6:39310887:CCTTA:C | donor_loss | 0.9900 |
| 6:39310888:CTTAC:C | donor_loss | 0.9900 |
| 6:39310889:TTACC:T | donor_loss | 0.9900 |
| 6:39310890:T:TG | donor_loss | 0.9900 |
| 6:39310891:A:AT | donor_loss | 0.9900 |
| 6:39310892:C:CA | donor_loss | 0.9900 |
| 6:39314077:C:A | donor_gain | 0.9900 |
| 6:39314140:C:CA | donor_gain | 0.9900 |
| 6:39314143:A:AC | donor_gain | 0.9900 |
| 6:39314144:C:CC | donor_gain | 0.9900 |
| 6:39299738:C:CC | acceptor_gain | 0.9800 |
AlphaMissense
2154 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:39303985:G:C | S220R | 0.995 |
| 6:39303985:G:T | S220R | 0.995 |
| 6:39303987:T:G | S220R | 0.995 |
| 6:39310942:C:A | W101C | 0.995 |
| 6:39310942:C:G | W101C | 0.995 |
| 6:39304003:G:C | F214L | 0.991 |
| 6:39304003:G:T | F214L | 0.991 |
| 6:39304005:A:G | F214L | 0.991 |
| 6:39299684:A:G | W248R | 0.990 |
| 6:39299684:A:T | W248R | 0.990 |
| 6:39303973:G:C | F224L | 0.990 |
| 6:39303973:G:T | F224L | 0.990 |
| 6:39303975:A:G | F224L | 0.990 |
| 6:39303971:C:A | G225V | 0.989 |
| 6:39304029:A:G | W206R | 0.983 |
| 6:39304029:A:T | W206R | 0.983 |
| 6:39304027:C:A | W206C | 0.982 |
| 6:39304027:C:G | W206C | 0.982 |
| 6:39310918:A:C | F109L | 0.982 |
| 6:39310918:A:T | F109L | 0.982 |
| 6:39310920:A:G | F109L | 0.982 |
| 6:39310944:A:G | W101R | 0.982 |
| 6:39310944:A:T | W101R | 0.982 |
| 6:39303974:A:C | F224C | 0.981 |
| 6:39303997:G:C | F216L | 0.980 |
| 6:39303997:G:T | F216L | 0.980 |
| 6:39303999:A:G | F216L | 0.980 |
| 6:39304590:C:G | G140R | 0.979 |
| 6:39304590:C:T | G140R | 0.979 |
| 6:39299663:A:G | W255R | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000052218 (6:39311803 T>C,G), RS1000142649 (6:39308443 A>G), RS1000479957 (6:39315723 T>C), RS1000654575 (6:39310746 C>T), RS1000815762 (6:39304858 C>T), RS1001410275 (6:39303547 G>C), RS1001410921 (6:39303418 C>T), RS1001800165 (6:39300218 G>A,T), RS1001961869 (6:39315631 A>G), RS1001990057 (6:39309282 C>A,T), RS1002167590 (6:39310456 C>G,T), RS1002224382 (6:39304084 C>A,T), RS1002255359 (6:39304296 T>C), RS1002941876 (6:39314037 C>A,G,T), RS1002973113 (6:39314206 C>G,T)
Disease associations
OMIM: gene MIM:607370 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| heart conduction disease | Limited | Unknown |
Mondo (1): heart conduction disease (MONDO:0000992)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002221_61 | Cholesterol, total | 3.000000e-08 |
| GCST010243_107 | Apolipoprotein B levels | 2.000000e-12 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004574 | total cholesterol measurement |
| EFO:0004615 | apolipoprotein B measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523433 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: vgic — Two-pore domain potassium channels (K2P)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.09 | IC50 | 8100 | nM | CHEMBL148342 |
PubChem BioAssay actives
1 with measured affinity, of 3 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 |
|---|---|---|---|---|
| N-[(2,4-difluorophenyl)methyl]-2-[2-[[[2-(4-methoxyphenyl)acetyl]amino]methyl]phenyl]benzamide | 1525549: Inhibition of human TASK4 expressed in CHO cells by Inside-out macro-patches based electrophysiology assay | ic50 | 8.1000 | uM |
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Arsenic | affects expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Folic Acid | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4322152 | Binding | Inhibition of human TASK4 expressed in CHO cells by Inside-out macro-patches based electrophysiology assay | TASK Channels Pharmacology: New Challenges in Drug Design. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: heart conduction disease
- Targeted by drugs: Chloroform, Nitric Oxide, Nitrogen
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): heart conduction disease