| 732016 | KCNJ1 | potassium inwardly rectifying channel subfamily J member 1 | 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. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 11 | 128838020 | 128867296 | Human | 218 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 731912 | KCNJ10 | potassium inwardly rectifying channel subfamily J member 10 | This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the p otassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008] | 1 | 160037467 | 160070160 | Human | 369 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 69098 | KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | 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] | 11 | 17385248 | 17389346 | Human | 1036 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 733298 | KCNJ12 | potassium inwardly rectifying channel subfamily J member 12 | 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 chr omosome 17. [provided by RefSeq, Jul 2008] | 17 | 21376357 | 21419870 | Human | 143 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 734216 | KCNJ13 | potassium inwardly rectifying channel subfamily J member 13 | 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] | 2 | 232765802 | 232776565 | Human | 181 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 735432 | KCNJ14 | potassium inwardly rectifying channel subfamily J member 14 | 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 neur ons. [provided by RefSeq, Feb 2013] | 19 | 48455574 | 48466980 | Human | 63 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 731050 | KCNJ15 | potassium inwardly rectifying channel subfamily J member 15 | 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] | 21 | 38229926 | 38307357 | Human | 104 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1343172 | KCNJ16 | potassium inwardly rectifying channel subfamily J member 16 | 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 rath er 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] | 17 | 70075225 | 70135608 | Human | 130 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 150523948 | KCNJ17 | inward rectifying K+ channel negative regulator Kir2.2v | ENCODES a protein that exhibits inward rectifier potassium channel activity (inferred); INVOLVED IN monoatomic cation transmembrane transport (inferred); monoatomic ion transmembrane transport (inferred); monoatomic ion transport (inferred); FOUND IN membrane (inferred); monoatomic ion channel compl ex (inferred) | | | | Human | 11 | symbol , GTEx , COSMIC , Human Proteome Map | gene, protein-coding, PROVISIONAL [RefSeq] |
| 4144939 | KCNJ18 | potassium inwardly rectifying channel subfamily J member 18 | 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 period ic paralysis. [provided by RefSeq, Jan 2013] | 17 | 21692523 | 21704612 | Human | 79 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 16562626 | AC124798.1 | antisense to KCNJ11 and overlapping to a novel gene | | | | | Human | | name | gene, lncrna |
| 16563739 | AC069061.1 | potassium inwardly-rectifying channel, subfamily J, member 12 (KCNJ12) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 38613468 | LOC105372430 | uncharacterized LOC105372430 | | 19 | 48465411 | 48469533 | Human | | old_gene_name | gene, ncrna, VALIDATED [RefSeq] |
