KIDINS220
Kinase D-interacting substrate of 220 kDa; a scaffold protein involved in neurotrophin signaling and neuronal development
Gene Information Card
| Symbol | KIDINS220 |
|---|---|
| Full Name | Kinase D-interacting substrate of 220 kDa |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 57498 ncbi.nlm.nih.gov/gene/57498 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9Y2A7 |
| OMIM ID | 615759 |
| HGNC ID | 29583 |
| Aliases | ARMS, KIAA0680 |
Description
KIDINS220 (Kinase D-interacting substrate of 220 kDa) encodes a scaffold protein that plays a critical role in neurotrophin signaling, particularly through Trk receptors. It is involved in neuronal differentiation, survival, and synaptic plasticity. Mutations in this gene are associated with neurodevelopmental disorders including spastic paraplegia and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) | Loss-of-function mutations impair neurotrophin signaling, leading to axonal degeneration and developmental delay | ClinVar, OMIM |
| Intellectual disability, autosomal dominant 65 | Missense and truncating mutations disrupt protein function, affecting neuronal development | ClinVar, OMIM |
| Hereditary spastic paraplegia | Mutations in KIDINS220 cause axonal transport defects and motor neuron degeneration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 14.2 | High |
| Cerebellum | 10.8 | High |
| Spinal cord | 9.1 | Medium |
| Heart | 3.2 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression; used in neurotrophin signaling studies |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
| U-87 MG (glioblastoma) | 8.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired Trk binding and signaling |
| c.3456_3457del (p.Glu1152fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, reducing scaffold function and neurotrophin signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type protein function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • scaffold protein | • neurotrophin TRK receptor signaling pathway |
| • neuron projection development | • synaptic signaling |
| • protein binding |
Pathways
• Neurotrophin signaling pathway (KEGG:04722)
• Trk receptor signaling
• MAPK signaling cascade
Protein Summary
KIDINS220 is a 220 kDa scaffold protein that interacts with protein kinase D and Trk receptors. It is essential for neurotrophin-mediated neuronal survival, differentiation, and axonal growth. The protein contains multiple ankyrin repeats and a sterile alpha motif (SAM) domain, facilitating protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIDINS220 Knockout HEK293 Cell Line | EDJ-KQ1048 | Human | 57498 | Details Get a Quote |
| KIDINS220 Knockout A-549 Cell Line | EDJ-KQ20160 | Human | 57498 | Details Get a Quote |
| KIDINS220 Knockout HCT 116 Cell Line | EDJ-KQ20161 | Human | 57498 | Details Get a Quote |
| KIDINS220 Knockout HeLa Cell Line | EDJ-KQ20162 | Human | 57498 | Details Get a Quote |
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