Version: 8.0.0Date: Tue Jan 28 2025
Gene
KCNQ1
- Species
- Homo sapiens
- Symbol
- KCNQ1
- Name
- potassium voltage-gated channel subfamily Q member 1
- Synonyms
- ATFB1
- ATFB3
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including calmodulin binding activity; protein kinase A binding activity; and voltage-gated potassium channel activity. Contributes to delayed rectifier potassium channel activity. Involved in several processes, including regulation of cardiac muscle cell membrane repolarization; regulation of heart contraction; and regulation of potassium ion transmembrane transport. Located in several cellular components, including basolateral plasma membrane; endosome; and membrane raft. Part of voltage-gated potassium channel complex. Implicated in heart conduction disease (multiple); long QT syndrome (multiple); and type 2 diabetes mellitus. Biomarker of seminoma.
- RGD Description
- This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR47735
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| No records match query. Try removing filters. | ||
Showing 0 - 0 of 0 rows
per page
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||
Showing 0 - 0 of 0 rows
per page
Sequence Feature Viewer
- Genome location
- Chr11:2444654...2849105 + (404.45 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.