KIDINS220

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]

Description

Kinase D interacting substrate 220

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

2 (8721081 - 8837630)

Ensembl ID

ENSG00000134313  (ver. 103.38)

Orthologs

Mouse Kidins220: ENSMUSG00000036333

UniProt

Q9ULH0

neXtProt

NX_Q9ULH0

Human splice variants
Mouse splice variants

Protein structure