| Primary Identifier | MGI:88025 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 109676 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including ATPase binding activity; potassium channel regulator activity; and transmembrane transporter binding activity. Involved in several processes, including positive regulation of ion transmembrane transporter activity; regulation of cardiac muscle cell action potential; and regulation of heart contraction. Acts upstream of or within cardiac muscle contraction; regulation of cardiac muscle cell membrane potential; and regulation of cation channel activity. Located in several cellular components, including T-tubule; intercalated disc; and myofibril. Is active in paranodal junction. Is extrinsic component of cytoplasmic side of plasma membrane. Is expressed in central nervous system; eye; genitourinary system; and heart. Used to study ankyrin-B-related cardiac arrhythmia; autistic disorder; and sinoatrial node disease. Human ortholog(s) of this gene implicated in ankyrin-B-related cardiac arrhythmia; atrial fibrillation; long QT syndrome; and sick sinus syndrome. Orthologous to human ANK2 (ankyrin 2). PHENOTYPE: Homozygous mutation of this gene results in death by postnatal day 8, although some animals survive to P20. Mutant animals display reduced body size, impaired balance and locomotion, brain structure dysmorphologies, abnormal lens, and optic nerve degeneration. [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
