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 voltage-gated potassium channel complex. Human ortholog(s) of this gene implicated in benign neonatal seizures and early infantile epileptic encephalopathy 7. Is expressed in central nervous system; heart; and inner ear. Orthologous to human KCNQ2 (potassium voltage-gated channel subfamily Q member 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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
developmental and epileptic encephalopathy 7 Alliance Developmental and epileptic encephalopathy 7 613720
Associated With kcnq2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005821 Ion transport domain
Family IPR003937 Potassium channel, voltage dependent, KCNQ
Family IPR003947 Potassium channel, voltage dependent, KCNQ2
Domain Details Per Protein
Protein Length Ion transport domain Potassium channel, voltage dependent, KCNQ Potassium channel, voltage dependent, KCNQ2
UniProtKB:A8KB98 349
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations