Aliases for KIDINS220 Gene
External Ids for KIDINS220 Gene
Previous GeneCards Identifiers for KIDINS220 Gene
This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
GeneCards Summary for KIDINS220 Gene
KIDINS220 (Kinase D Interacting Substrate 220) is a Protein Coding gene. Diseases associated with KIDINS220 include Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity and Urethral Diverticulum. Among its related pathways are RET signaling and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. GO annotations related to this gene include PDZ domain binding and protein kinase regulator activity. An important paralog of this gene is ANKHD1.
UniProtKB/Swiss-Prot for KIDINS220 Gene
Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway.