KCNJ12 Membrane Protein Introduction

Introduction of KCNJ12

KCNJ12, also known as ATP-sensitive inward rectifier potassium channel 12, is encoded by KCNJ12 gene. It belongs to the multiple inwardly rectifying channels that contribute to the cardiac inward rectifier current (IK1), which plays a crucial role in establishing action potential waveform and excitability of neuronal and muscle tissues. KCNJ12 is mainly expressed in skeletal muscle, brain, heart, and kidney. Recent studies suggest that KCNJ12 variants are associated with various diseases, such as Smith-magenis syndrome and Leber congenital amaurosis 16.

Basic Information of KCNJ12
Protein Name ATP-sensitive inward rectifier potassium channel 12
Gene Name KCNJ12
Aliases IRK2, KCNJN1
Organism Homo sapiens (Human)
UniProt ID Q14500
Transmembrane Times 2
Length (aa) 433

Function of KCNJ12 Membrane Protein

KCNJ12, as a member of the inward-rectifier potassium channel family, is responsible for many biological functions. Previous research has indicated that KCNJ12 could be involved in establishing action potential waveforms and excitability of nerve and muscle tissues. In addition, studies conducted on KCNJ12 demonstrate that its variants should be causes of familial dilated cardiomyopathy (DC) and biomarkers for the esophageal squamous cell carcinoma. It has been documented that KCNJ12 (p.Glu334del) genetic polymorphism is significantly associated with DC.

Structure of chicken Kcnj12/Kir2.2 membrane protein. Fig.1 Structure of chicken Kcnj12/Kir2.2 membrane protein.

Application of KCNJ12 Membrane Protein in Literature

  1. Khalilipour N., et al. Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes. Cancer Genet. 2018, 221: 46-52. PubMed ID: 29405996

    This article conducts a whole exome sequencing (WES) to identify the potential biomarker of esophageal squamous cell carcinoma in several patients who carry KCNJ12/KCNJ18 and GPRIN2 genes. The results suggest that some variants of these genes should be associated with ESCC.

  2. Yuan H.X., et al. Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. Medicine (Baltimore). 2017, 96(33): e7727. PubMed ID: 28816949

    Authors examine the genetic variants in family patients with dilated cardiomyopathy. The data reveal KCNJ12 (p.Glu334del) genetic polymorphism is significantly associated with DC.

  3. Paninka R.M., et al. Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms. Mol Genet Genomics. 2016, 291(4): 1535-44. PubMed ID: 27008341

    Authors in this group conduct the whole genome and exome sequencing of several genes, include (KCNJ12, KCNJ17, and KCNJ18) in patients who suffer from Kir channels-caused disorders. The results show that Kir2.6_RRAI and QHEV isoforms play an important role in thyrotoxic periodic paralysis.

KCNJ12 Preparation Options

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As a forward-looking research institute as well as a leading custom service provider in the field of membrane protein, Creative Biolabs has won good reputation among our worldwide customers for successfully accomplishing numerous challenging projects including generation of many functional membrane proteins. Please feel free to contact us for more information.

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