Aliases for ANK3 Gene
External Ids for ANK3 Gene
Previous GeneCards Identifiers for ANK3 Gene
Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
GeneCards Summary for ANK3 Gene
ANK3 (Ankyrin 3, Node Of Ranvier (Ankyrin G)) is a Protein Coding gene. Diseases associated with ANK3 include intellectual disability - hypotonia - spasticity - sleep disorder and mental retardation, autosomal recessive, 37. Among its related pathways are Developmental Biology and Proteoglycans in cancer. GO annotations related to this gene include structural constituent of cytoskeleton and protein binding, bridging. An important paralog of this gene is ANKRD52.
UniProtKB/Swiss-Prot for ANK3 Gene
In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368).
Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.