| Primary Identifier | MGI:1341722 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 16511 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables inward rectifier potassium channel activity. Acts upstream of or within potassium ion transmembrane transport; regulation of heart rate by cardiac conduction; and regulation of ventricular cardiac muscle cell membrane repolarization. Predicted to be located in cell surface and perinuclear region of cytoplasm. Predicted to be part of inward rectifier potassium channel complex. Predicted to be active in plasma membrane. Is expressed in several structures, including brain; early conceptus; gonad; heart; and retina. Used to study short QT syndrome. Human ortholog(s) of this gene implicated in long QT syndrome; long QT syndrome 2; and short QT syndrome. Orthologous to human KCNH2 (potassium voltage-gated channel subfamily H member 2). PHENOTYPE: Mutant mice which maintain expression of the A isoform and lack expression of the B isoform are predisposed to episodic sinus bradycardia. Mice with mutations causing defects in both isoforms are embryonic lethal with defects in cardiac development and function. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
