Description: Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA. RefSeq Summary (NM_002241): 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 potassium 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr1:160,007,257-160,040,051 Size: 32,795 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr1:160,011,183-160,012,322 Size: 1,140 Coding Exon Count: 1
ID:IRK10_HUMAN DESCRIPTION: RecName: Full=ATP-sensitive inward rectifier potassium channel 10; AltName: Full=ATP-dependent inwardly rectifying potassium channel Kir4.1; AltName: Full=Inward rectifier K(+) channel Kir1.2; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 10; FUNCTION: May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). SUBUNIT: Seems to form heterodimer with Kir5.1/KCNJ16. Interacts with INADL (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. DISEASE: Defects in KCNJ10 are the cause of seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]. A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. SIMILARITY: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily. SEQUENCE CAUTION: Sequence=AAH34036.2; Type=Erroneous initiation;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): KCNJ10 CDC HuGE Published Literature: KCNJ10 Positive Disease Associations: epilepsy
, seizures Related Studies:
epilepsy Lenzen, K. P. et al. 2005, Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy., Epilepsy research. 2005 Feb;63(3-Feb):113-8.
[PubMed 15725393]
Our results support previous evidence that the common KCNJ10 Arg271Cys missense variation influences seizure susceptibility of common IGE syndromes.
seizures Buono, R. J. et al. 2004, Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility., Epilepsy research. 2004 Feb;58(3-Feb):175-83.
[PubMed 15120748]
The T allele of SNP rs#1130183 is associated with seizure resistance when common forms of focal and generalized epilepsy are analyzed as a group. These data suggest that this missense variation in KCNJ10 (or a nearby variation) is related to general seizure susceptibility in humans.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 81296 - E set domains 81324 - Voltage-gated potassium channels
ModBase Predicted Comparative 3D Structure on P78508
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006813 potassium ion transport GO:0007601 visual perception GO:0007628 adult walking behavior GO:0010107 potassium ion import GO:0014003 oligodendrocyte development GO:0022010 central nervous system myelination GO:0034765 regulation of ion transmembrane transport GO:0042391 regulation of membrane potential GO:0048169 regulation of long-term neuronal synaptic plasticity GO:0051935 glutamate reuptake GO:0055075 potassium ion homeostasis GO:0060075 regulation of resting membrane potential GO:0071805 potassium ion transmembrane transport
US Server
