KCNA2

Identifiers

Aliases, HBK5, HK4, HUKIV, KV1.2, MK2, NGK1, RBK2, EIEE32, potassium voltage-gated channel subfamily A member 2, DEE32

External IDsOMIM: ; MGI: ; HomoloGene: ; GeneCards: ; OMA:

Gene location ( Human )

Chr.Chromosome 1 (human)

Band 1p13.3 Start 110,519,837 bp

End110,631,474 bp

Gene location ( Mouse )

Chr.Chromosome 3 (mouse)

Band 3 F2.3|3 46.61 cM Start 107,008,462 bp

End107,022,321 bp

RNA expression pattern

HumanMouse (ortholog)Brodmann area 23 middle temporal gyrus lateral nuclear group of thalamus postcentral gyrus primary visual cortex cerebellar vermis superior frontal gyrus pons Brodmann area 46 endothelial celllateral geniculate nucleus pontine nuclei lobe of cerebellum medial geniculate nucleus anterior horn of spinal cord medial vestibular nucleus medial dorsal nucleus deep cerebellar nuclei cerebellar vermis facial motor nucleus

Human Mouse (ortholog)

Brodmann area 23 middle temporal gyrus lateral nuclear group of thalamus postcentral gyrus primary visual cortex cerebellar vermis superior frontal gyrus pons Brodmann area 46 endothelial celllateral geniculate nucleus pontine nuclei lobe of cerebellum medial geniculate nucleus anterior horn of spinal cord medial vestibular nucleus medial dorsal nucleus deep cerebellar nuclei cerebellar vermis facial motor nucleus

Brodmann area 23 middle temporal gyrus lateral nuclear group of thalamus postcentral gyrus primary visual cortex cerebellar vermis superior frontal gyrus pons Brodmann area 46 endothelial cell

lateral geniculate nucleus pontine nuclei lobe of cerebellum medial geniculate nucleus anterior horn of spinal cord medial vestibular nucleus medial dorsal nucleus deep cerebellar nuclei cerebellar vermis facial motor nucleus

Gene ontologyMolecular functionCellular componentBiological processSources: /

Gene ontology

Molecular function

Cellular component

Biological process

Sources: /

OrthologsSpeciesHumanMouseEntrez Ensembl UniProtRefSeq (mRNA)RefSeq (protein)Location (UCSC)PubMed search

Orthologs

Species Human Mouse

Entrez

Ensembl

UniProt

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

PubMed search

Wikidata

View/Edit HumanView/Edit Mouse

Potassium voltage-gated channel subfamily A member 2 also known as Kv1.2 is a protein that in humans is encoded by the KCNA2 gene.

Function

Potassium channels 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1.

Interactions

KCNA2 has been shown to interact with KCNA4, DLG4, PTPRA, KCNAB2, RHOA and Cortactin.

Clinical significance

Mutations in this gene cause KCNA2-related disorders. These can include epilepsy, intellectual and developmental disabilities, movement disorders, autism spectrum disorder, attention deficit hyperactivity disorder, and hereditary spastic paraplegia.

External links

at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.