psui3905/ncbi_genes_summary huggingface dataset:
KCNJ11, Official Symbol KCNJ11provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 11provided by HGNC Primary source HGNC:HGNC:6257 See related Ensembl:ENSG00000187486 MIM:600937; AllianceGenome:HGNC:6257 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIR; HHF2; PHHI; IKATP; PNDM2; TNDM3; KIR6.2; MODY13 Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] Expression Broad expression in brain (RPKM 2.5), thyroid (RPKM 2.3) and 20 other tissues See more Orthologs mouse all
KCNJ12, Official Symbol KCNJ12provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 12provided by HGNC Primary source HGNC:HGNC:6258 See related Ensembl:ENSG00000184185 MIM:602323; AllianceGenome:HGNC:6258 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRK2; hIRK; IRK-2; hIRK1; KCNJN1; Kir2.2; kcnj12x; hkir2.2x Summary This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 2.3), brain (RPKM 1.4) and 20 other tissues See more Orthologs mouse all
KCNJ13, Official Symbol KCNJ13provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 13provided by HGNC Primary source HGNC:HGNC:6259 See related Ensembl:ENSG00000115474 MIM:603208; AllianceGenome:HGNC:6259 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SVD; LCA16; KIR1.4; KIR7.1 Summary This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] Expression Biased expression in small intestine (RPKM 40.5), thyroid (RPKM 3.6) and 1 other tissue See more Orthologs mouse all
KCNJ14, Official Symbol KCNJ14provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 14provided by HGNC Primary source HGNC:HGNC:6260 See related Ensembl:ENSG00000182324 MIM:603953; AllianceGenome:HGNC:6260 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRK4; KIR2.4 Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013] Expression Broad expression in testis (RPKM 1.5), skin (RPKM 1.2) and 21 other tissues See more Orthologs mouse all
KCNJ15, Official Symbol KCNJ15provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 15provided by HGNC Primary source HGNC:HGNC:6261 See related Ensembl:ENSG00000157551 MIM:602106; AllianceGenome:HGNC:6261 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRKK; KIR1.3; KIR4.2 Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013] Expression Biased expression in kidney (RPKM 38.5), thyroid (RPKM 23.6) and 6 other tissues See more Orthologs mouse all
KCNJ16, Official Symbol KCNJ16provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 16provided by HGNC Primary source HGNC:HGNC:6262 See related Ensembl:ENSG00000153822 MIM:605722; AllianceGenome:HGNC:6262 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIR9; HKTD; KIR5.1 Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] Expression Biased expression in kidney (RPKM 78.7), thyroid (RPKM 73.9) and 4 other tissues See more Orthologs mouse all
KCNJ18, Official Symbol KCNJ18provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 18provided by HGNC Primary source HGNC:HGNC:39080 See related Ensembl:ENSG00000260458 MIM:613236; AllianceGenome:HGNC:39080 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TTPP2; KIR2.6 Summary This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013] Expression Biased expression in skin (RPKM 1.2), heart (RPKM 0.3) and 9 other tissues See more Orthologs all
KCNJ2, Official Symbol KCNJ2provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 2provided by HGNC Primary source HGNC:HGNC:6263 See related Ensembl:ENSG00000123700 MIM:600681; AllianceGenome:HGNC:6263 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRK1; LQT7; SQT3; ATFB9; HHIRK1; KIR2.1; HHBIRK1 Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 3.4), heart (RPKM 3.3) and 23 other tissues See more Orthologs mouse all
KCNJ2-AS1, Official Symbol KCNJ2-AS1provided by HGNC Official Full Name KCNJ2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43720 See related Ensembl:ENSG00000267365 AllianceGenome:HGNC:43720 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KCNJ3, Official Symbol KCNJ3provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 3provided by HGNC Primary source HGNC:HGNC:6264 See related Ensembl:ENSG00000162989 MIM:601534; AllianceGenome:HGNC:6264 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KGA; GIRK1; KIR3.1 Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012] Expression Biased expression in brain (RPKM 10.3), heart (RPKM 5.7) and 8 other tissues See more Orthologs mouse all
KCNJ4, Official Symbol KCNJ4provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 4provided by HGNC Primary source HGNC:HGNC:6265 See related Ensembl:ENSG00000168135 MIM:600504; AllianceGenome:HGNC:6265 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HIR; HRK1; IRK3; HIRK2; IRK-3; Kir2.3 Summary Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 14.9) and heart (RPKM 6.3) See more Orthologs mouse all
KCNJ5, Official Symbol KCNJ5provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 5provided by HGNC Primary source HGNC:HGNC:6266 See related Ensembl:ENSG00000120457 MIM:600734; AllianceGenome:HGNC:6266 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CIR; GIRK4; KATP1; LQT13; KIR3.4 Summary This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017] Expression Biased expression in adrenal (RPKM 34.9), spleen (RPKM 8.6) and 4 other tissues See more Orthologs mouse all
KCNJ6, Official Symbol KCNJ6provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 6provided by HGNC Primary source HGNC:HGNC:6267 See related Ensembl:ENSG00000157542 MIM:600877; AllianceGenome:HGNC:6267 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIR1; GIRK2; KATP2; KCNJ7; KPLBS; GIRK-2; KATP-2; KIR3.2; hiGIRK2 Summary This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015] Expression Biased expression in brain (RPKM 1.1), stomach (RPKM 0.3) and 7 other tissues See more Orthologs mouse all
KCNJ8, Official Symbol KCNJ8provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 8provided by HGNC Primary source HGNC:HGNC:6269 See related Ensembl:ENSG00000121361 MIM:600935; AllianceGenome:HGNC:6269 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIR6.1; uKATP-1 Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012] Expression Broad expression in fat (RPKM 16.1), heart (RPKM 14.3) and 20 other tissues See more Orthologs mouse all
KCNJ9, Official Symbol KCNJ9provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 9provided by HGNC Primary source HGNC:HGNC:6270 See related Ensembl:ENSG00000162728 MIM:600932; AllianceGenome:HGNC:6270 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GIRK3; KIR3.3 Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 8.9) See more Orthologs mouse all
KCNK1, Official Symbol KCNK1provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 1provided by HGNC Primary source HGNC:HGNC:6272 See related Ensembl:ENSG00000135750 MIM:601745; AllianceGenome:HGNC:6272 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DPK; HOHO; K2P1; KCNO1; TWIK1; K2p1.1; TWIK-1 Summary This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 19.7), stomach (RPKM 14.9) and 18 other tissues See more Orthologs mouse all
KCNK10, Official Symbol KCNK10provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 10provided by HGNC Primary source HGNC:HGNC:6273 See related Ensembl:ENSG00000100433 MIM:605873; AllianceGenome:HGNC:6273 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TREK2; TREK-2; K2p10.1; PPP1R97 Summary 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, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008] Expression Biased expression in brain (RPKM 1.7), duodenum (RPKM 1.4) and 8 other tissues See more Orthologs mouse all
KCNK12, Official Symbol KCNK12provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 12provided by HGNC Primary source HGNC:HGNC:6274 See related Ensembl:ENSG00000184261 MIM:607366; AllianceGenome:HGNC:6274 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as THIK2; THIK-2; K2p12.1 Summary This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 1.7), placenta (RPKM 0.4) and 8 other tissues See more Orthologs mouse all
KCNK13, Official Symbol KCNK13provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 13provided by HGNC Primary source HGNC:HGNC:6275 See related Ensembl:ENSG00000152315 MIM:607367; AllianceGenome:HGNC:6275 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as THIK1; THIK-1; K2p13.1 Summary Potassium 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 potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013] Expression Biased expression in testis (RPKM 6.7), kidney (RPKM 2.6) and 6 other tissues See more Orthologs mouse all
KCNK15, Official Symbol KCNK15provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 15provided by HGNC Primary source HGNC:HGNC:13814 See related Ensembl:ENSG00000124249 MIM:607368; AllianceGenome:HGNC:13814 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KT3.3; TASK5; KCNK11; KCNK14; TASK-5; K2p15.1; dJ781B1.1 Summary This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 2.5), endometrium (RPKM 1.1) and 14 other tissues See more Orthologs mouse all
KCNK16, Official Symbol KCNK16provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 16provided by HGNC Primary source HGNC:HGNC:14464 See related Ensembl:ENSG00000095981 MIM:607369; AllianceGenome:HGNC:14464 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TALK1; TALK-1; K2p16.1 Summary 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 expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008] Expression Biased expression in stomach (RPKM 3.5), pancreas (RPKM 1.4) and 2 other tissues See more Orthologs mouse all
KCNK17, Official Symbol KCNK17provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 17provided by HGNC Primary source HGNC:HGNC:14465 See related Ensembl:ENSG00000124780 MIM:607370; AllianceGenome:HGNC:14465 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TALK2; TASK4; TALK-2; TASK-4; K2p17.1 Summary 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. [provided by RefSeq, Sep 2008] Expression Broad expression in lung (RPKM 2.2), stomach (RPKM 1.6) and 18 other tissues See more Orthologs mouse all
KCNK18, Official Symbol KCNK18provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 18provided by HGNC Primary source HGNC:HGNC:19439 See related Ensembl:ENSG00000186795 MIM:613655; AllianceGenome:HGNC:19439 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TRIK; MGR13; TRESK; TRESK2; K2p18.1; TRESK-2 Summary Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
KCNK2, Official Symbol KCNK2provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 2provided by HGNC Primary source HGNC:HGNC:6277 See related Ensembl:ENSG00000082482 MIM:603219; AllianceGenome:HGNC:6277 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TREK; TPKC1; TREK1; K2p2.1; TREK-1; hTREK-1c; hTREK-1e Summary This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 18.5), thyroid (RPKM 2.6) and 1 other tissue See more Orthologs mouse all
KCNK3, Official Symbol KCNK3provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 3provided by HGNC Primary source HGNC:HGNC:6278 See related Ensembl:ENSG00000171303 MIM:603220; AllianceGenome:HGNC:6278 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OAT1; PPH4; TASK; TASK1; TBAK1; K2p3.1; TASK-1 Summary This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008] Expression Biased expression in adrenal (RPKM 48.3), placenta (RPKM 12.8) and 5 other tissues See more Orthologs mouse all
KCNK4, Official Symbol KCNK4provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 4provided by HGNC Primary source HGNC:HGNC:6279 See related Ensembl:ENSG00000182450 MIM:605720; AllianceGenome:HGNC:6279 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FHEIG; TRAAK; K2p4.1; TRAAK1 Summary This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015] Expression Biased expression in brain (RPKM 1.0), placenta (RPKM 0.2) and 2 other tissues See more Orthologs mouse all
KCNK5, Official Symbol KCNK5provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 5provided by HGNC Primary source HGNC:HGNC:6280 See related Ensembl:ENSG00000164626 MIM:603493; AllianceGenome:HGNC:6280 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TASK2; K2p5.1; KCNK5b; TASK-2 Summary This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008] Expression Broad expression in small intestine (RPKM 18.5), kidney (RPKM 17.9) and 19 other tissues See more Orthologs mouse all
KCNK6, Official Symbol KCNK6provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 6provided by HGNC Primary source HGNC:HGNC:6281 See related Ensembl:ENSG00000099337 MIM:603939; AllianceGenome:HGNC:6281 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TOSS; KCNK8; TWIK2; K2p6.1; TWIK-2 Summary 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 7.3), esophagus (RPKM 6.3) and 24 other tissues See more Orthologs mouse all
KCNK7, Official Symbol KCNK7provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 7provided by HGNC Primary source HGNC:HGNC:6282 See related Ensembl:ENSG00000173338 MIM:603940; AllianceGenome:HGNC:6282 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TWIK3; K2p7.1 Summary This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 11.7), esophagus (RPKM 2.1) and 1 other tissue See more Orthologs mouse all
KCNK9, Official Symbol KCNK9provided by HGNC Official Full Name potassium two pore domain channel subfamily K member 9provided by HGNC Primary source HGNC:HGNC:6283 See related Ensembl:ENSG00000169427 MIM:605874; AllianceGenome:HGNC:6283 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KT3.2; TASK3; BIBARS; K2p9.1; TASK-3; TASK32 Summary This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017] Expression Biased expression in adrenal (RPKM 2.3) and brain (RPKM 2.1) See more Orthologs mouse all
KCNMA1, Official Symbol KCNMA1provided by HGNC Official Full Name potassium calcium-activated channel subfamily M alpha 1provided by HGNC Primary source HGNC:HGNC:6284 See related Ensembl:ENSG00000156113 MIM:600150; AllianceGenome:HGNC:6284 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLO; BKTM; SLO1; hSlo; IEG16; LIWAS; MaxiK; PNKD3; SAKCA; mSLO1; CADEDS; KCa1.1; SLO-ALPHA; bA205K10.1 Summary This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022] Expression Broad expression in endometrium (RPKM 7.1), brain (RPKM 4.7) and 17 other tissues See more Orthologs mouse all
KCNMA1-AS1, Official Symbol KCNMA1-AS1provided by HGNC Official Full Name KCNMA1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51213 See related Ensembl:ENSG00000236467 AllianceGenome:HGNC:51213 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
KCNMA1-AS2, Official Symbol KCNMA1-AS2provided by HGNC Official Full Name KCNMA1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:51214 See related Ensembl:ENSG00000225497 AllianceGenome:HGNC:51214 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.5) See more
KCNMA1-AS3, Official Symbol KCNMA1-AS3provided by HGNC Official Full Name KCNMA1 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:51215 See related AllianceGenome:HGNC:51215 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 3.2) See more
KCNMB1, Official Symbol KCNMB1provided by HGNC Official Full Name potassium calcium-activated channel subfamily M regulatory beta subunit 1provided by HGNC Primary source HGNC:HGNC:6285 See related Ensembl:ENSG00000145936 MIM:603951; AllianceGenome:HGNC:6285 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hbeta1; BKbeta1; SLO-BETA; hslo-beta; K(VCA)beta; slo-beta-1; k(VCA)beta-1 Summary MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 43.3), prostate (RPKM 41.0) and 15 other tissues See more Orthologs mouse all
KCNMB2, Official Symbol KCNMB2provided by HGNC Official Full Name potassium calcium-activated channel subfamily M regulatory beta subunit 2provided by HGNC Primary source HGNC:HGNC:6286 See related Ensembl:ENSG00000197584 MIM:605214; AllianceGenome:HGNC:6286 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013] Expression Biased expression in ovary (RPKM 5.5), adrenal (RPKM 2.4) and 8 other tissues See more Orthologs mouse all
KCNMB3, Official Symbol KCNMB3provided by HGNC Official Full Name potassium calcium-activated channel subfamily M regulatory beta subunit 3provided by HGNC Primary source HGNC:HGNC:6287 See related Ensembl:ENSG00000171121 MIM:605222; AllianceGenome:HGNC:6287 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HBETA3; KCNMB2; KCNMBL; BKBETA3; SLOBETA3; SLO-BETA-3; K(VCA)BETA-3 Summary MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in fat (RPKM 6.7), gall bladder (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
KCNMB4, Official Symbol KCNMB4provided by HGNC Official Full Name potassium calcium-activated channel subfamily M regulatory beta subunit 4provided by HGNC Primary source HGNC:HGNC:6289 See related Ensembl:ENSG00000135643 MIM:605223; AllianceGenome:HGNC:6289 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 7.6), adrenal (RPKM 4.7) and 15 other tissues See more Orthologs mouse all
KCNN1, Official Symbol KCNN1provided by HGNC Official Full Name potassium calcium-activated channel subfamily N member 1provided by HGNC Primary source HGNC:HGNC:6290 See related Ensembl:ENSG00000105642 MIM:602982; AllianceGenome:HGNC:6290 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SK1; hSK1; SKCA1; KCa2.1 Summary Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 5.8), testis (RPKM 0.7) and 1 other tissue See more Orthologs mouse all
KCNN2, Official Symbol KCNN2provided by HGNC Official Full Name potassium calcium-activated channel subfamily N member 2provided by HGNC Primary source HGNC:HGNC:6291 See related Ensembl:ENSG00000080709 MIM:605879; AllianceGenome:HGNC:6291 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SK2; hSK2; DYT34; SKCA2; KCa2.2; NEDMAB; SKCa 2 Summary Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Biased expression in adrenal (RPKM 4.9), liver (RPKM 3.5) and 8 other tissues See more Orthologs mouse all
KCNN3, Official Symbol KCNN3provided by HGNC Official Full Name potassium calcium-activated channel subfamily N member 3provided by HGNC Primary source HGNC:HGNC:6292 See related Ensembl:ENSG00000143603 MIM:602983; AllianceGenome:HGNC:6292 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SK3; ZLS3; hSK3; SKCA3; KCa2.3 Summary Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] Expression Broad expression in brain (RPKM 8.1), endometrium (RPKM 1.9) and 16 other tissues See more Orthologs mouse all
KCNN4, Official Symbol KCNN4provided by HGNC Official Full Name potassium calcium-activated channel subfamily N member 4provided by HGNC Primary source HGNC:HGNC:6293 See related Ensembl:ENSG00000104783 MIM:602754; AllianceGenome:HGNC:6293 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IK; IK1; SK4; DHS2; KCA4; hSK4; IKCA1; hKCa4; KCa3.1; hIKCa1 Summary The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008] Expression Biased expression in salivary gland (RPKM 25.8), stomach (RPKM 13.6) and 10 other tissues See more Orthologs mouse all
KCNQ1, Official Symbol KCNQ1provided by HGNC Official Full Name potassium voltage-gated channel subfamily Q member 1provided by HGNC Primary source HGNC:HGNC:6294 See related Ensembl:ENSG00000053918 MIM:607542; AllianceGenome:HGNC:6294 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1 Summary This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] Expression Broad expression in adrenal (RPKM 44.1), thyroid (RPKM 34.9) and 16 other tissues See more Orthologs mouse all