Gene: KCNJ10

Alternate names for this Gene: BIRK-10|KCNJ13-PEN|KIR1.2|KIR4.1|SESAME

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.2

Description of this Gene: potassium inwardly rectifying channel subfamily J member 10

Type of Gene: protein-coding

rs137853074 in KCNJ10 gene and DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT PMID 19426954 2009 Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

rs137853066 in KCNJ10 gene and SeSAME syndrome PMID 19420365 2009 Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

PMID 19289823 2009 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 24561201 2014 Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.

rs12133079 in KCNJ10 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).