KCNE2
Sign in to saveAlso known as ATFB4, LQT5, LQT6, MIRP1, potassium voltage-gated channel subfamily E regulatory subunit 2
thumb|KCNE2 3D animation
Gene data
KCNE2- Name
- potassium voltage-gated channel subfamily E regulatory subunit 2
- Type
- protein-coding
- Aliases
- ATFB4, LQT5, LQT6, MIRP1
Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 71688
- exact match
- identifiers.org/ncbigene/9992
- genomic end
- 34371381
- genomic start
- 34364006
- cytogenetic location
- 21q22.11
via Wikidata · CC0
~10 min read
Article
20 sectionsContents
- Discovery
- Tissue distribution
- Structure
- Gene
- Protein
- Function
- Choroid plexus epithelium
- Gastric epithelium
- Thyroid epithelium
- Heart
- Clinical significance
- Gastric epithelium
- Thyroid epithelium
- Heart
- Clinical marker
- See also
- Notes
- References
- Further reading
- External links
thumb|KCNE2 3D animation
Potassium voltage-gated channel subfamily E member 2 (KCNE2), also known as MinK-related peptide 1 (MiRP1), is a protein that in humans is encoded by the KCNE2 gene on chromosome 21. MiRP1 is a voltage-gated potassium channel accessory subunit (beta subunit) associated with Long QT syndrome. It is ubiquitously expressed in many tissues and cell types. Because of this and its ability to regulate multiple different ion channels, KCNE2 exerts considerable influence on a number of cell types and tissues. Human KCNE2 is a member of the five-strong family of human KCNE genes. KCNE proteins contain a single membrane-spanning region, extracellular N-terminal and intracellular C-terminal. KCNE proteins have been widely studied for their roles in the heart and in genetic predisposition to inherited cardiac arrhythmias. The KCNE2 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease. More recently, roles for KCNE proteins in a variety of non-cardiac tissues have also been explored.