Preferred Label : KCNQ2 wt Allele;
NCIt synonyms : KV7.2; EBN; Potassium Channel, Voltage-Gated, Subfamily Q, Member 2 Gene; DEE7; Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 2 Gene; Potassium Voltage-Gated Channel Subfamily Q Member 2 wt Allele; ENB1; BFNC; HNSPC; EBN1; Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 2 Gene; Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 2 Gene; KCNA11;
NCIt definition : Human KCNQ2 wild-type allele is located in the vicinity of 20q13.33 and is approximately
72 kb in length. This allele, which encodes potassium voltage-gated channel subfamily
KQT member 2 protein, plays a role in neuronal excitability via potassium ion transport.
Mutations in the gene are associated with developmental and epileptic encephalopathy
7, myokymia and benign familial neonatal convulsions type 1 (BFNC; benign neonatal
epilepsy 1; EBN1).;
NCI Metathesaurus CUI : CL1921496;
GenBank Accession Number : AF033348;
Origin ID : C202659;
UMLS CUI : C5890916;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
