KCNJ10 Membrane Protein Introduction

Introduction of KCNJ10

Encoded by KCNJ10 gene, KCNJ10 belongs to the Potassium Voltage-Gated Channel Subfamily J which has been extensively studied during the past few decades because it offers numerous possibilities for therapeutic applications. It is responsible for potassium buffering of glial cells in the brain. Recent research indicates that KCNJ10 variations are associated with multiple diseases, include idiopathic epilepsy syndrome.

Basic Information of KCNJ10
Protein Name	ATP-sensitive inward rectifier potassium channel 10
Gene Name	KCNJ10
Aliases	BIRK-10, KIR1.2
Organism	Homo sapiens (Human)
UniProt ID	P78508
Transmembrane Times	2
Length (aa)	379
Sequence	MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWFLFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQVDTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSASGKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV

Function of KCNJ10 Membrane Protein

KCNJ10, also named ATP-sensitive inward rectifier potassium channel 10, is widely expressed in the brain, kidney, and renal epithelial cells in the central nervous system. Previous research has indicated that KCNJ10 variants are significantly related to EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy). In addition, studies indicate that KCNJ10 encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, activate K⁺ channel to cause the development of EAST syndrome.

Fig.1 Mapping the disease locus on KCNJ10. (Scholl, 2009)

Application of KCNJ10 Membrane Protein in Literature

Severino M., et al. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations. J Neurol. 2018, 265(6): 1419-1425. PubMed ID: 29666984

This article conducts a whole exome sequencing in patients who suffer from epilepsy, ataxia, sensorineural deafness, and tubulopathy to investigate the SNP in EAST syndrome. The results show that KCNJ10 variants (p.Asn232Glnfs*14 and p.Gly275Valfs*7) are likely targets for diagnoses and treatment.
Nicita F., et al. Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia. Cerebellum. 2018, 17(4): 499-503. PubMed ID: 29476442

Authors examine the genetic variants in a patient with non-syndromic early-onset cerebellar ataxia. The data reveals a novel c.180 T > G (p.Ile60Met) mutation in KCNJ10, which could play an important role in the clinic.
Al Dhaibani M.A., et al. Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia, and no electrolyte abnormalities. J Neurogenet. 2018, 32(1): 1-5. PubMed ID: 29191078

Authors in this group reveal a novel mutation in the KCNJ10 gene could be related to central nervous system symptoms, such as seizures, ataxia, and intellectual disability.
Zhang S.P., et al. Dimethylation of Histone 3 Lysine 9 is sensitive to the epileptic activity, and affects the transcriptional regulation of the potassium channel Kcnj10 gene in epileptic rats. Mol Med Rep. 2018, 17(1): 1368-1374. PubMed ID: 29115470

This article focuses on the relationship between KCNJ10 with H3K9me2 and G9a, and the potential mechanism of how H3K9me2 and G9a affect the epileptic seizure activity.
Du M., et al. Astrocytic Kir4.1 channels and gap junctions account for spontaneous epileptic seizure. PLoS Comput Biol. 2018, 14(3): e1005877. PubMed ID: 29590095

This article reveals Kir4.1 channels and gap junctions play important roles in regulating the concentration of extracellular potassium. Meanwhile, Kir4.1 channels and gap junctions can induce spontaneous epileptic activity

KCNJ10 Preparation Options

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Reference

Scholl U I, et al. (2009). Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A. 106(14): 5842-7.

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