KIDINS220 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | KIDINS220 |
| Official Name | kinase D interacting substrate 220 [Source:HGNC Symbol;Acc:HGNC:29508] |
| Ensembl ID | ENSG00000134313 |
| Bio databases IDs | |
| Aliases | kinase D interacting substrate 220, ankyrin repeat-rich membrane-spanning protein |
| Synonyms | 3110039L19Rik, ARMS, C330002I19Rik, kinase D-interacting substrate 220, mKIAA1250, SINO, VENARG |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KIDINS220 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PDZ domain ligand
- transcription regulator
- Ankyrin repeats (many copies)
- protein kinase binding
- KAP family P-loop domain
- Ankyrin repeats (3 copies)
- protein kinase regulator
- cytosolic tail domain
- protein binding
- PDZ-domain binding
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- spastic paraplegia, intellectual disability, nystagmus, and obesity
- melanoma
- melanoma cancer
- cutaneous melanoma
- cutaneous melanoma cancer
- hereditary disorder
- fetal cerebral ventriculomegaly and limb contracture
- metastatic melanoma
- metastatic melanoma cancer
role in cell
- expression in
- phosphorylation in
- migration
- activation in
- apoptosis
- number
- growth
- activation
- quantity
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- membrane fraction
- glutaminergic synapse
- perimembrane region
- Cytoplasm
- cell surface
- postsynaptic region
- cellular membrane
- Plasma Membrane
- cytosol
- uropod
- perinuclear space
- neuromuscular junctions
- neurites
- nerve ending
- sarcolemma
- late endosomes
- membrane rafts
- perikaryon
- uropod rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIDINS220 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- in utero embryonic development
- positive regulation of neuron projection development
- dendrite morphogenesis
Cellular Component
Where in the cell the gene product is active
- membrane
- late endosome
- cytosol
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- PDZ domain binding
- protein kinase regulator activity