KCNE2
Potassium voltage-gated channel subfamily E member 2
Also known as: KCNE2_HUMAN, LQT6, MiRP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y6J6
- Gene
- KCNE2
- Ensembl
- ENSG00000159197
- Chromosome
- 21
- Canonical length
- 123 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
123 residues, UniProt reviewed canonical sequence.
>Q9Y6J6|KCNE2
1 MSTLSNFTQT LEDVFRRIFI TYMDNWRQNT TAEQEALQAK VDAENFYYVI LYLMVMIGMF
61 SFIIVAILVS TVKSKRREHS NDPYHQYIVE DWQEKYKSQI LNLEESKATI HENIGAAGFK
121 MSPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNE2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 299 nTPM
Expression across tissuesHPA
Tissue
- stomach: 299 nTPM
- duodenum: 6.7 nTPM
- testis: 4 nTPM
- choroid plexus: 2.8 nTPM
- blood vessel: 2.1 nTPM
- kidney: 1.8 nTPM
Single-cell type
- parietal cells: 2,376 nCPM
- gastric chief cells: 772 nCPM
- mucous neck cells: 210 nCPM
- early spermatids: 40 nCPM
- late spermatids: 29 nCPM
- foveolar cells: 24 nCPM
Immune cell
- eosinophil: 0.5 nTPM
- naive CD4 T-cell: 0.4 nTPM
- classical monocyte: 0.3 nTPM
- myeloid DC: 0.3 nTPM
- T-reg: 0.3 nTPM
- memory CD4 T-cell: 0.2 nTPM
Brain region
- hypothalamus: 1.9 nTPM
- choroid plexus: 1.6 nTPM
- pons: 1.6 nTPM
- midbrain: 1.5 nTPM
- basal ganglia: 1.4 nTPM
- cerebral cortex: 1.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNE2.
Disease | AllUniProt
Conditions KCNE2 is implicated in, by any mechanism.
- Long QT syndrome 6 (LQT6) MIM:613693
- Atrial fibrillation, familial, 4 (ATFB4) MIM:611493
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 167 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Long QT syndrome 3/6, digenic
- Congenital long QT syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.94
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.11
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cardiac muscle cell action potential involved in contraction
- cellular response to xenobiotic stimulus
- membrane repolarization
- membrane repolarization during action potential
- membrane repolarization during ventricular cardiac muscle cell action potential
- negative regulation of delayed rectifier potassium channel activity
- positive regulation of proteasomal protein catabolic process
- potassium ion export across plasma membrane
- potassium ion import across plasma membrane
- potassium ion transmembrane transport
- regulation of heart rate by cardiac conduction
- regulation of membrane repolarization
- regulation of potassium ion transmembrane transport
- regulation of ventricular cardiac muscle cell membrane repolarization
- ventricular cardiac muscle cell action potential
Molecular functions
- potassium channel regulator activity
- transmembrane transporter binding
- voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Potassium channel, voltage-dependent, beta subunit, KCNE
- Slow voltage-gated potassium channel
- Potassium channel, voltage-dependent, beta subunit, KCNE2
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KCNE2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KCNE2 as an antibody target. Whether an autoantibody or antibody against KCNE2 could matter depends on whether native KCNE2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNE2 is annotated at the cell surface, where native KCNE2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KCNE2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...