KCNAB2 Membrane Protein Introduction

Introduction of KCNAB2

The ion channel gene, KCNAB2, has been mapped to the 1p36 region and encodes a voltage-gated K⁺ channel β-subunit protein, Kvβ2 (KCNAB2). K⁺ channels are major determinants of membrane excitability, and as such, are of particular interest in the context of epilepsy. Native K⁺ currents are induced by voltage-dependent channels that are composed of tetramers with both α and β subunits. KCNABs can form the pore of the ion channel with α subunits in a 1:1 distribution. Specifically, KCNABs are cytoplasmic proteins that are critical for the correct membrane localization and normal biophysical properties of voltage-gated K⁺ channels.

Basic Information of KCNAB2
Protein Name	Voltage-gated potassium channel subunit beta-2
Gene Name	KCNAB2
Aliases	K(+) channel subunit beta-2, Kv-beta-2
Organism	Homo sapiens (Human)
UniProt ID	Q13303
Transmembrane Times	/
Length (aa)	367
Sequence	MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNGINLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRPDPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGAMTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSVLLGASNADQLMENIGAIQVLPKLSSSIIHEIDSILGNKPYSKKDYRS

Function of KCNAB2 Membrane Protein

KCNAB2 has been identified as a reasonable candidate gene for epilepsy. It can form a ternary complex with SQSTM1 and PRKCZ. KCNAB2 is an important component of voltage-gated potassium (Kv) channels, which represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. KCNAB2 is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member controls the functional properties of the KCNA4 gene product. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. In melanocytic cells, KCNAB2 gene expression may be regulated by MITF.

KCNAB2 Membrane Protein Introduction

Application of KCNAB2 Membrane Protein in Literature

Heilstedt H.A., et al. Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Epilepsia. 2001, 42(9): 1103-11. PubMed ID: 11580756

The authors show a possible relation between loss of KCNAB2 and the development of seizures. There may be additional genes within 1p36 that contribute to epilepsy in this syndrome. They also suggest that haploinsufficiency for KCNAB2 is a significant risk factor for epilepsy.
McCormack K., et al. Genetic analysis of the mammalian K⁺ channel beta subunit Kvbeta 2 (Kcnab2). J Biol Chem. 2002, 277(15): 13219-28. PubMed ID: 11825900

This article concludes that Kvbeta2 contributes to the regulation of excitability in vivo. However, Kvbeta2 relies upon as yet unidentified mechanisms in the regulation of K(+) channel and/or oxidoreductive functions.
Perkowski J.J. and Murphy G.G. Deletion of the mouse homolog of KCNAB2, a gene linked to monosomy 1p36, results in associative memory impairments and amygdala hyperexcitability. J Neurosci. 2011, 31(1): 46-54. PubMed ID: 21209188

In this article, they find that deletion of Kcnab2 leads to a reduction in the slow afterhyperpolarization following a burst of action potentials and a concomitant increase in neuronal excitability. Their results suggest that loss of Kvβ2 likely contributes to the cognitive and neurological impairments observed in 1p36DS patients.
Zerr P., et al. The murine Bis1 seizure gene and the Kcnab2 gene encoding the beta2-subunit of the K⁺ channel are different. Neurogenetics. 2000, 2(4): 231-4. PubMed ID: 10983719

In this article, they find that Kcnab2 is located in the 3.1-cM confidence interval containing Bis1 and K⁺ channels have been shown in involvement of in the genesis of seizures.

KCNAB2 Preparation Options

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