Gene

kcnq2a

ID
ZDB-GENE-080220-37
Name
potassium voltage-gated channel, KQT-like subfamily, member 2a
Symbol
kcnq2a Nomenclature History
Previous Names
  • zgc:171872
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to have calmodulin binding activity and delayed rectifier potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to localize to axon initial segment and voltage-gated potassium channel complex. Is expressed in central nervous system; heart; and inner ear. Human ortholog(s) of this gene implicated in benign neonatal seizures and early infantile epileptic encephalopathy 7. Orthologous to human KCNQ2 (potassium voltage-gated channel subfamily Q member 2).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With kcnq2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
benign neonatal seizures Alliance Myokymia 121200
benign neonatal seizures Alliance Seizures, benign neonatal, 1 121200
early infantile epileptic encephalopathy 7 Alliance Epileptic encephalopathy, early infantile, 7 613720
Associated With kcnq2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR020969 Ankyrin-G binding site
Domain IPR005821 Ion transport domain
Domain IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal
Family IPR003937 Potassium channel, voltage dependent, KCNQ
Family IPR003947 Potassium channel, voltage dependent, KCNQ2
Family IPR028325 Voltage-gated potassium channel
Domain Details Per Protein
Protein Length Ankyrin-G binding site Ion transport domain Potassium channel, voltage dependent, KCNQ Potassium channel, voltage dependent, KCNQ2 Potassium channel, voltage dependent, KCNQ, C-terminal Voltage-gated potassium channel
UniProtKB:A8KB98 349
UniProtKB:F1Q6H2 349
UniProtKB:B8JIR6 883
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations