KIDINS220 - kinase D interacting substrate 220 Gene
Also Known as ARMS; SINO; VENARG
Species: Homo sapiens
About KIDINS220
This gene has 38 transcripts (splice variants), 272 orthologues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 28.9), ovary (RPKM 19.1) and 25 other tissues.
Summary
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]
KIDINS220 Products (14)
| mRNA | Protein | Name |
|---|---|---|
| NM_001348729.2 | NP_001335658.1 | kinase D-interacting substrate of 220 kDa isoform 2 |
| NM_001348731.2 | NP_001335660.1 | kinase D-interacting substrate of 220 kDa isoform 3 |
| NM_001348732.2 | NP_001335661.1 | kinase D-interacting substrate of 220 kDa isoform 4 |
| NM_001348734.2 | NP_001335663.1 | kinase D-interacting substrate of 220 kDa isoform 5 |
| NM_001348735.2 | NP_001335664.1 | kinase D-interacting substrate of 220 kDa isoform 6 |
| NM_001348736.2 | NP_001335665.1 | kinase D-interacting substrate of 220 kDa isoform 7 |
| NM_001348738.2 | NP_001335667.1 | kinase D-interacting substrate of 220 kDa isoform 8 |
| NM_001348739.2 | NP_001335668.1 | kinase D-interacting substrate of 220 kDa isoform 9 |
| NM_001348740.2 | NP_001335669.1 | kinase D-interacting substrate of 220 kDa isoform 9 |
| NM_001348741.2 | NP_001335670.1 | kinase D-interacting substrate of 220 kDa isoform 10 |
| NM_001348742.2 | NP_001335671.1 | kinase D-interacting substrate of 220 kDa isoform 10 |
| NM_001348743.2 | NP_001335672.1 | kinase D-interacting substrate of 220 kDa isoform 10 |
| NM_001348745.2 | NP_001335674.1 | kinase D-interacting substrate of 220 kDa isoform 11 |
| NM_020738.4 | NP_065789.1 | kinase D-interacting substrate of 220 kDa isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
KIDINS220 Protein Structure
Ank_2: Ankyrin repeats (3 copies) (13 - 101)
Ank: Ankyrin repeat (104 - 132)
Ank_2: Ankyrin repeats (3 copies) (142 - 233)
Ank: Ankyrin repeat (235 - 266)
Ank: Ankyrin repeat (269 - 298)
Ank_2: Ankyrin repeats (3 copies) (306 - 390)
KAP_NTPase: KAP family P-loop domain (440 - 953)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1771 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
kinase D-interacting substrate of 220 kDa |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
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| Ventriculomegaly And Arthrogryposis |
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| Paraplegia |
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| Cerebral Palsy |
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| Coffin-Siris Syndrome 9 |
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| Melanoma |
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| Hydrocephalus |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | KIDINS220 | VGNC | VGNC:81109 |
| Mus musculus | KIDINS220 | MGD | MGI:1924730 |
| Bos taurus | KIDINS220 | VGNC | VGNC:30579 |
| Rattus norvegicus | KIDINS220 | RGD | RGD:619949 |
| Canis familiaris | KIDINS220 | VGNC | VGNC:42378 |
| Macaca mulatta | KIDINS220 | VGNC | VGNC:73947 |
| Others | KIDINS220 | NCBI |