Potassium Channel, Inwardly Rectifying, Subfamily J, Member 10

Alternative Names

  • KCNJ10
  • Glial Inwardly Rectifying Potassium Channel Kir4.1
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OMIM Number

602208

NCBI Gene ID

3766

Uniprot ID

P78508

Length

32,694 bases

No. of Exons

2

No. of isoforms

1

Protein Name

ATP-sensitive inward rectifier potassium channel 10

Molecular Mass

42508 Da

Amino Acid Count

379

Genomic Location

chr1:160,037,466-160,070,159

Gene Map Locus
1q23.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_002241.4:c.847C>GUnited Arab EmiratesNC_000001.11:g.160041686G>CSeizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte ImbalanceNG_016411.1:g.33486C>G; NM_002241.4:c.847C>G; NP_002232.2:p.Leu283Val
NM_002241.5:c.179T>CArabNC_000001.11:g.160042354A>GLikely Pathogenic,Uncertain SignificanceSeizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte ImbalanceNG_016411.1:g.32818T>C; NM_002241.5:c.179T>C; NP_002232.2:p.Ile60Thr759993423205826
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