KCNK6
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Also known as K2p6.1TWIK-2
Summary
KCNK6 (potassium two pore domain channel subfamily K member 6, HGNC:6281) is a protein-coding gene on chromosome 19q13.2, encoding Potassium channel subfamily K member 6 (Q9Y257). K(+) channel that conducts outward rectifying currents at the membranes of the endolysosomal system.
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics.
Source: NCBI Gene 9424 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 80 total
- MANE Select transcript:
NM_004823
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6281 |
| Approved symbol | KCNK6 |
| Name | potassium two pore domain channel subfamily K member 6 |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | K2p6.1, TWIK-2 |
| Ensembl gene | ENSG00000099337 |
| Ensembl biotype | protein_coding |
| OMIM | 603939 |
| Entrez | 9424 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000263372, ENST00000588137, ENST00000884216, ENST00000963801
RefSeq mRNA: 1 — MANE Select: NM_004823
NM_004823
CCDS: CCDS12513
Canonical transcript exons
ENST00000263372 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000648390 | 38326593 | 38326988 |
| ENSE00000892785 | 38327180 | 38332076 |
| ENSE00000892786 | 38319845 | 38320272 |
Expression profiles
Bgee: expression breadth ubiquitous, 205 present calls, max score 92.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0220 / max 95.6933, expressed in 1420 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175613 | 7.0220 | 1420 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 92.18 | gold quality |
| decidua | UBERON:0002450 | 90.24 | gold quality |
| ectocervix | UBERON:0012249 | 89.23 | gold quality |
| esophagus mucosa | UBERON:0002469 | 88.91 | gold quality |
| monocyte | CL:0000576 | 87.61 | gold quality |
| right coronary artery | UBERON:0001625 | 87.28 | gold quality |
| leukocyte | CL:0000738 | 87.24 | gold quality |
| ascending aorta | UBERON:0001496 | 86.59 | gold quality |
| thoracic aorta | UBERON:0001515 | 86.37 | gold quality |
| uterine cervix | UBERON:0000002 | 85.05 | gold quality |
| myometrium | UBERON:0001296 | 85.00 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.84 | gold quality |
| vagina | UBERON:0000996 | 84.77 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 84.74 | gold quality |
| parotid gland | UBERON:0001831 | 84.42 | silver quality |
| buccal mucosa cell | CL:0002336 | 84.40 | gold quality |
| skin of leg | UBERON:0001511 | 84.32 | gold quality |
| left coronary artery | UBERON:0001626 | 84.28 | gold quality |
| body of uterus | UBERON:0009853 | 84.16 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.15 | gold quality |
| oral cavity | UBERON:0000167 | 84.01 | gold quality |
| endocervix | UBERON:0000458 | 83.88 | gold quality |
| gingival epithelium | UBERON:0001949 | 83.67 | gold quality |
| coronary artery | UBERON:0001621 | 83.61 | gold quality |
| gingiva | UBERON:0001828 | 83.34 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 83.31 | gold quality |
| mouth mucosa | UBERON:0003729 | 83.28 | gold quality |
| zone of skin | UBERON:0000014 | 83.21 | gold quality |
| minor salivary gland | UBERON:0001830 | 83.07 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 82.86 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8060 | yes | 98.75 |
| E-HCAD-9 | yes | 15.17 |
| E-ANND-3 | yes | 11.73 |
| E-MTAB-6678 | yes | 7.48 |
| E-ENAD-27 | no | 3.79 |
| E-MTAB-5061 | no | 2.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting KCNK6, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
Literature-anchored findings (GeneRIF, showing 2)
- Identification and characterization of Kcnk6 expression within the mammalian cochlea established the gene as a functional candidate for DFNA4. (PMID:14689445)
- Potassium channels, in particular K2P channels, are expressed and functional in the apical membrane of airway epithelial cells (PMID:21964404)
Cross-species orthologs
15 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kcnk6 | ENSDARG00000007383 |
| mus_musculus | Kcnk6 | ENSMUSG00000046410 |
| drosophila_melanogaster | Ork1 | FBGN0017561 |
| drosophila_melanogaster | Task7 | FBGN0037690 |
| drosophila_melanogaster | Task6 | FBGN0038165 |
| drosophila_melanogaster | CG10864 | FBGN0038621 |
| drosophila_melanogaster | CG42340 | FBGN0259242 |
| 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), KCNK10 (ENSG00000100433), KCNK15 (ENSG00000124249), KCNK17 (ENSG00000124780), 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 6 — Q9Y257 (reviewed: Q9Y257)
Alternative names: Inward rectifying potassium channel protein TWIK-2, TWIK-originated similarity sequence
All UniProt accessions (2): Q9Y257, B2RDS2
UniProt curated annotations — full annotation on UniProt →
Function. K(+) channel that conducts outward rectifying currents at the membranes of the endolysosomal system. Active in lysosomes where it regulates lysosome numbers and size. In macrophages, enables K(+) efflux coupled to ATP-induced NLRP3 inflammasome activation upon bacterial infection. Cooperates with ATP-gated P2RX7 channels to activate NLRP3 inflammasome, with P2RX7 conducting Ca(2+) and Na(+) influx that sets the membrane potential for K(+) efflux. Does not display channel activity.
Subunit / interactions. Homodimer; disulfide-linked.
Subcellular location. Late endosome membrane. Lysosome membrane.
Tissue specificity. Widespread expression, detected in all tissues tested except for skeletal muscle. Strongest expression in placenta, pancreas, heart, colon and spleen, lower levels detected in peripheral blood leukocytes, lung, liver, kidney and thymus. Lowest expression detected in brain.
Post-translational modifications. N-glycosylation is necessary for targeting to lysosomes.
Domain organisation. Each subunit contributes two pore-forming domains 1 and 2 which assemble to form a single pore with M2 and M4 transmembrane helices lining the central cavity and M1 and M3 facing the lipid bilayer. The transmembrane helices are bridged by the selectivity filters 1 and 2 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? |
|---|---|---|
| Q9Y257-1 | 1 | yes |
| Q9Y257-2 | 2 |
RefSeq proteins (1): NP_004814* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003092 | 2pore_dom_K_chnl_TASK | Family |
| IPR003280 | 2pore_dom_K_chnl | Family |
| IPR005408 | 2pore_dom_K_chnl_TWIK | Family |
| IPR005409 | 2pore_dom_K_chnl_TWIK2 | Family |
| IPR013099 | K_chnl_dom | Domain |
Pfam: PF07885
Catalyzed reactions (Rhea), 1 shown:
- K(+)(in) = K(+)(out) (RHEA:29463)
UniProt features (40 total): binding site 13, transmembrane region 4, mutagenesis site 4, topological domain 3, region of interest 3, sequence variant 3, short sequence motif 2, glycosylation site 2, intramembrane region 2, chain 1, compositionally biased region 1, disulfide bond 1, splice variant 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9MEK | ELECTRON MICROSCOPY | 2.85 |
| 9MEL | ELECTRON MICROSCOPY | 3.17 |
| 9OTA | ELECTRON MICROSCOPY | 3.2 |
| 9E94 | ELECTRON MICROSCOPY | 3.67 |
| 9OTK | ELECTRON MICROSCOPY | 3.7 |
| 9OV0 | ELECTRON MICROSCOPY | 3.9 |
| 9OV9 | ELECTRON MICROSCOPY | 3.9 |
| 9OVD | ELECTRON MICROSCOPY | 3.9 |
| 9OVE | ELECTRON MICROSCOPY | 4.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y257-F1 | 82.88 | 0.55 |
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 (13): 106; 106; 107; 107; 108; 108; 109; 214; 214; 215; 215; 216 …
Disulfide bonds (1): 53
Glycosylation sites (2): 79, 85
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 53 | no channel activity. |
| 289 | disrupts lysosomal targeting signal. increases localization and k(+) current at the plasma membrane; when associated wit |
| 290 | disrupts lysosomal targeting signal. increases localization and k(+) current at the plasma membrane; when associated wit |
| 308 | disrupts lysosomal targeting signal. increases localization and k(+) current at the plasma membrane. displays additive e |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-1299308 | Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) |
| 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: 241 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOCC_VACUOLAR_MEMBRANE, REACTOME_TANDEM_PORE_DOMAIN_POTASSIUM_CHANNELS, REACTOME_POTASSIUM_CHANNELS, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (9): negative regulation of systemic arterial blood pressure (GO:0003085), potassium ion transport (GO:0006813), regulation of resting membrane potential (GO:0060075), regulation of lysosome size (GO:0062196), potassium ion transmembrane transport (GO:0071805), positive regulation of NLRP3 inflammasome complex assembly (GO:1900227), regulation of systemic arterial blood pressure (GO:0003073), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220)
GO Molecular Function (5): inward rectifier potassium channel activity (GO:0005242), potassium channel activity (GO:0005267), outward rectifier potassium channel activity (GO:0015271), potassium ion leak channel activity (GO:0022841), metal ion binding (GO:0046872)
GO Cellular Component (8): lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), late endosome membrane (GO:0031902), lysosome (GO:0005764), endosome (GO:0005768), membrane (GO:0016020), monoatomic ion channel complex (GO:0034702)
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 |
|---|---|
| voltage-gated potassium channel activity | 2 |
| regulation of systemic arterial blood pressure | 1 |
| negative regulation of blood pressure | 1 |
| metal ion transport | 1 |
| regulation of membrane potential | 1 |
| regulation of cellular component size | 1 |
| potassium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| positive regulation of protein-containing complex assembly | 1 |
| NLRP3 inflammasome complex assembly | 1 |
| positive regulation of inflammasome-mediated signaling pathway | 1 |
| regulation of NLRP3 inflammasome complex assembly | 1 |
| regulation of blood pressure | 1 |
| transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| ligand-gated monoatomic cation channel activity | 1 |
| monoatomic cation channel activity | 1 |
| potassium ion transmembrane transporter activity | 1 |
| potassium channel activity | 1 |
| leak channel activity | 1 |
| cation binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
| potassium channel complex | 1 |
| plasma membrane protein complex | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| lytic vacuole | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
| transmembrane transporter complex | 1 |
Protein interactions and networks
STRING
512 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNK6 | KRT76 | Q01546 | 980 |
| KCNK6 | KCNAB3 | O43448 | 536 |
| KCNK6 | KCNK13 | Q9HB14 | 536 |
| KCNK6 | KCNJ13 | O60928 | 523 |
| KCNK6 | KCNG1 | Q9UIX4 | 508 |
| KCNK6 | KCNJ14 | Q9UNX9 | 485 |
| KCNK6 | CLCN3 | P51790 | 468 |
| KCNK6 | SLC9A2 | Q9UBY0 | 447 |
| KCNK6 | KCNH7 | Q9NS40 | 440 |
| KCNK6 | WNK4 | Q96J92 | 435 |
| KCNK6 | KCNN4 | O15554 | 422 |
| KCNK6 | KCNA3 | P22001 | 416 |
| KCNK6 | CREBL2 | O60519 | 409 |
| KCNK6 | NEK7 | Q8TDX7 | 392 |
| KCNK6 | ANO10 | Q9NW15 | 387 |
IntAct
0 interactions, top by confidence:
ESM2 similar proteins: A0A2Z2U4G9, A4K2M4, A4K2N8, A4K2P6, A4K2Q6, A4K2R3, A4K2S2, A4K2T1, A4K2V2, A4K2W6, A4K2X4, A4K2Y2, G3V8R8, G5E845, L5KLU7, O00180, O08581, O14649, O17185, O19179, O35111, O35173, O54912, O88758, P26770, P51840, P55203, Q02846, Q0P5A0, Q17ST2, Q1KZG0, Q3LS21, Q3TBV4, Q5RD07, Q5UE96, Q7TNJ2, Q8BH02, Q8IZY2, Q8R454, Q8R5I0
Diamond homologs: A8X8I4, Q19907, Q9Y257, 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
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
573 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:38320269:GTGG:G | donor_gain | 1.0000 |
| 19:38326986:CAGG:C | donor_loss | 1.0000 |
| 19:38326987:AG:A | donor_loss | 1.0000 |
| 19:38326989:GTGA:G | donor_loss | 1.0000 |
| 19:38327178:A:AG | acceptor_gain | 1.0000 |
| 19:38327179:G:GG | acceptor_gain | 1.0000 |
| 19:38327179:GTCT:G | acceptor_gain | 1.0000 |
| 19:38327179:GTCTA:G | acceptor_gain | 1.0000 |
| 19:38320271:GG:G | donor_gain | 0.9900 |
| 19:38320272:GG:G | donor_gain | 0.9900 |
| 19:38320273:GTA:G | donor_loss | 0.9900 |
| 19:38320273:GTAC:G | donor_gain | 0.9900 |
| 19:38320277:G:GG | donor_gain | 0.9900 |
| 19:38324605:G:GT | donor_gain | 0.9900 |
| 19:38326587:CCCTA:C | acceptor_loss | 0.9900 |
| 19:38326588:CCTAG:C | acceptor_loss | 0.9900 |
| 19:38326589:CTAGG:C | acceptor_loss | 0.9900 |
| 19:38326590:TAG:T | acceptor_loss | 0.9900 |
| 19:38326591:A:AC | acceptor_loss | 0.9900 |
| 19:38326591:A:AG | acceptor_gain | 0.9900 |
| 19:38326591:AG:A | acceptor_gain | 0.9900 |
| 19:38326592:G:GA | acceptor_gain | 0.9900 |
| 19:38326592:GG:G | acceptor_gain | 0.9900 |
| 19:38326592:GGCT:G | acceptor_gain | 0.9900 |
| 19:38326592:GGCTA:G | acceptor_gain | 0.9900 |
| 19:38327177:CA:C | acceptor_loss | 0.9900 |
| 19:38327178:A:AC | acceptor_loss | 0.9900 |
| 19:38327179:GT:G | acceptor_gain | 0.9900 |
| 19:38327179:GTC:G | acceptor_gain | 0.9900 |
| 19:38326592:GGC:G | acceptor_gain | 0.9800 |
AlphaMissense
1958 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:38326630:G:C | K120N | 0.995 |
| 19:38326630:G:T | K120N | 0.995 |
| 19:38320251:A:C | S101R | 0.994 |
| 19:38320253:C:A | S101R | 0.994 |
| 19:38320253:C:G | S101R | 0.994 |
| 19:38326889:T:C | F207L | 0.990 |
| 19:38326891:C:A | F207L | 0.990 |
| 19:38326891:C:G | F207L | 0.990 |
| 19:38320223:G:C | W91C | 0.989 |
| 19:38320223:G:T | W91C | 0.989 |
| 19:38326599:G:A | G110E | 0.985 |
| 19:38326658:G:C | G130R | 0.985 |
| 19:38320245:T:C | F99L | 0.984 |
| 19:38320247:C:A | F99L | 0.984 |
| 19:38320247:C:G | F99L | 0.984 |
| 19:38326598:G:T | G110W | 0.983 |
| 19:38326893:G:A | C208Y | 0.983 |
| 19:38326617:C:T | T116I | 0.982 |
| 19:38326894:C:G | C208W | 0.982 |
| 19:38326650:C:A | A127E | 0.981 |
| 19:38326593:G:A | G108D | 0.980 |
| 19:38320011:G:C | G21R | 0.979 |
| 19:38320272:G:C | G108R | 0.977 |
| 19:38326659:G:A | G130D | 0.977 |
| 19:38326914:T:A | I215N | 0.976 |
| 19:38326917:G:A | G216D | 0.976 |
| 19:38320267:C:T | T106I | 0.975 |
| 19:38326892:T:C | C208R | 0.975 |
| 19:38326902:C:A | S211Y | 0.975 |
| 19:38320012:G:A | G21D | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000308085 (19:38322165 G>T), RS1000311762 (19:38330093 G>A,C), RS1000372110 (19:38323995 A>G), RS1000387631 (19:38317897 A>C), RS1000488188 (19:38324309 G>A,C), RS1000662488 (19:38330474 C>T), RS1000835862 (19:38319235 A>T), RS1001268720 (19:38331776 T>C), RS1001314777 (19:38327206 A>C,G), RS1001383353 (19:38325419 G>A,T), RS1001721465 (19:38331498 A>C,T), RS1001764678 (19:38321396 C>A), RS1001786620 (19:38320869 G>A,T), RS1002122175 (19:38331649 T>C,G), RS1002449716 (19:38331641 G>A)
Disease associations
OMIM: gene MIM:603939 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
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)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 7 |
| Estradiol | affects binding, increases expression, affects cotreatment | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Nickel | increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, decreases expression | 1 |
| picene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol Z | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Camptothecin | increases expression | 1 |
| Cosmetics | affects cotreatment, decreases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Flame Retardants | affects cotreatment, decreases expression | 1 |
| Plasticizers | affects cotreatment, decreases expression | 1 |
| Progesterone | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2A6 | HAP1 KCNK6 (-) 1 | Cancer cell line | Male |
| CVCL_E2A7 | HAP1 KCNK6 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.