KCNE5
protein-codingpotassium voltage-gated channel subfamily E regulatory subunit 5, the group of Potassium voltage-gated channel regulatory subunits
Gene summary
This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]
- KCNE1L
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~1.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: XL
Disease ID:MONDO:0015263
Submitter: PanelApp Australia
Inheritance Pattern: XL
Disease ID:MONDO:0004981
Submitter: PanelApp Australia
Inheritance Pattern: AD
Disease ID:MONDO:0015263
Submitter: ClinGen
Inheritance Pattern: Unknown
Disease ID:MONDO:0015263
Submitter: Genomics England PanelApp
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to KCNE5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_012282.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 35 | 37 | |||
| missense | 69 | 3 | 1 | 73 | ||
| nonsense | 3 | 1 | 4 | |||
| start loss | 0 | |||||
| frameshift | 2 | 2 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 76 | 39 | 1 | 116 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_036414.1 | 1 | MANE Select | |
| Ensembl | ENSP00000361173.2 | 1 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Antiarrhythmic Pathway, Pharmacodynamics
- Phase 2 - plateau phase
- Phase 3 - rapid repolarisation
- Cardiac conduction
- Muscle contraction
Biological Process
- regulation of heart contraction
- cardiac muscle contraction
- regulation of membrane repolarization
- regulation of ventricular cardiac muscle cell membrane repolarization
- regulation of atrial cardiac muscle cell membrane repolarization
Molecular Function
- voltage-gated potassium channel activity
- delayed rectifier potassium channel activity
- protein binding
- potassium channel regulator activity
- ion channel binding
Cellular Component
- plasma membrane
- voltage-gated potassium channel complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000372101
- Coding exons
- 1
- Length
- 1465
- Individuals with no LoFs
- 0
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 0
- Defined
- 0
- p
- 0.00
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.407 | 60 | 69.5 | 0.863 | 0.00000639 | 876 |
| Missense (PolyPhen) | 10 | 17.284 | 0.57858 | 246 | ||
| Synonymous | 1.32 | 26 | 36.1 | 0.721 | 0.00000366 | 318 |
| Loss of Function | 0.396 | 1 | 1.53 | 0.654 | 1.33e-7 | 20 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1. {ECO:0000269|PubMed:12324418}.;
Recessive Scores
- pRec
- 0.106
Essentials
- Essential (gene trap)
- N