Preferred Label : KCNJ2 wt Allele;
NCIt synonyms : HHIRK1; IRK1; HHBIRK1; Potassium Channel, Inwardly Rectifying, Subfamily J Member 2 Gene; Potassium Channel, Inwardly Rectifying Subfamily J, Member 2 Gene; Potassium Voltage-Gated Channel Subfamily J Member 2 Gene; Potassium Inwardly-Rectifying Channel, Subfamily J, Member 2 Gene; SQT3; Potassium Voltage-Gated Channel Subfamily J Member 11 Gene; KIR2.1; Inward Rectifier K Channel KIR2.1 Gene; Potassium Channel, Inwardly Rectifying Subfamily J Member 2 Gene; LQT7; ATFB9; Potassium Inwardly Rectifying Channel Subfamily J Member 2 wt Allele;
NCIt definition : Human KCNJ2 wild-type allele is located in the vicinity of 17q24.3 and is approximately
11 kb in length. This allele, which encodes inward rectifier potassium channel 2 protein,
is involved in the establishment of potassium gradient-dependent action potentials
across the membranes of excitable cells. Mutation of the gene is associated with long
QT syndrome 7 (Andersen syndrome), familial atrial fibrillation 9 and short QT syndrome
3.;
NCI Metathesaurus CUI : CL1921507;
GenBank Accession Number : AF011904;
Origin ID : C202644;
UMLS CUI : C5890884;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
